牛13个体尺性状相关基因的克隆表达、序列特征及遗传效应分析

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英文题名：Cloning, Expression, Molecular Characterization and Genetics Effect Analysis of the Thirteen Genes Related to Bovine Body Measurement Traits 作者：刘永峰 论文级别：博士 学科专业名称：动物遗传育种与繁殖 中文关键词：牛 ; 体尺性状 ; 基因 ; 表达 ; 启动子 ; 多态性 ; 关联分析 英文关键词：cattle ; body measurement traits ; gene ; expression ; promoter ; polymorphism ; association analysis 学位年度：2010 导师：昝林森 ; 李奎 学科代码：090501 学位授予单位：西北农林科技大学 论文提交日期：2010-05-01

摘要

本研究以秦川牛、鲁西牛、南阳牛、郏县红牛、夏南牛、婆罗门牛、BMY牛、雪龙黑牛、秦杂牛组合、西鲁杂牛组合等群体为研究对象,运用电子克隆技术和DNA序列分析方法对部分基因进行了克隆;结合生物信息学方法,运用启动子分析技术对牛部分基因启动子的结构和功能进行了分析;结合生物软件,运用生物信息学方法分析了13个体尺相关基因的DNA和蛋白序列的特征;运用荧光定量PCR技术和生物信息学方法,对13个基因进行了组织表达谱分析;运用PCR-RFLP、等位基因PCR技术(AS-PCR)、创造酶切位点酶切技术(ACRS-PCR-RFLP)、DNA直接测序技术、飞行质谱MALDI-TOF技术分析了13个基因的多态性;通过生物统计学软件的应用,对检测的38个SNP位点进行了频率、平衡性、群体遗传性及与体尺性状的相关性进行了统计分析。筛选出对中国黄牛体尺性状有重要影响的功能基因和分子标记,以期发现对牛体尺性状的有效分子标记,为中国黄牛生长发育性状的分子标记辅助选择和优质高产新品种(系)牛的培育提供科学依据。本研究主要结果如下:
     1.采用电子克隆(e-PCR)、反转录PCR(RT-PCR)、基因组学等技术,从秦川牛组织中分离、克隆得到了牛UQCC基因编码区全长序列和内含子序列,得到牛GDF5基因和CDK6基因的启动子序列。
     2.对牛UQCC、GDF5、ADAMTSL3、ZBTB38、CDK6、HHIP、IHH、GHRL、PTHR1、INS、UCP2、col1A1和col1A2基因,通过生物信息学方法对其序列特征和功能进行了预测分析,得到了13个基因的序列及氨基酸信息、预测了13个基因蛋白质的二级和三级结构、信号肽序列、跨膜结构、功能域结构,并对这些蛋白进行了亚细胞定位,与其它物种该基因的蛋白进行了保守性分析,构建了系统发生树。
     3.采用荧光定量PCR技术,分析牛UQCC和ADAMTSL3基因的组织表达谱,发现牛UQCC基因在牛不同组织中由高到低表达的顺序为:脾脏、心脏、气管、大肠、脂肪、睾丸、肾脏、肌肉和膀胱;牛ADAMTSL3基因在牛不同组织中由高到低表达的顺序为:睾丸、心脏、脂肪、胃、小肠、肝脏、肺脏、气管、肾脏、脾脏、大肠和肌肉。结合生物信息学方法,分析、归纳了13个基因的组织表达谱信息。
     4.采用生物信息学方法,结合国外文献对人基因启动子序列结构和特征的报道,分析了牛GDF5基因和CDK6基因启动子的结构和功能,发现牛GDF5基因启动子没有TATA box和CAAT box结构,发现了不同于人该基因的转录因子AML-la、CdxA、GTATA-1、MZF1、CdxA和CdxA,推测断定牛GDF5基因启动子转录起始位点位于翻译起始密码子ATG上游-359bp位置,-457至-423序列中的GT重复序列可以增加基因的转录,其最小增强子处于-458和-377之间;发现牛CDK6基因启动子亦没有TATA box和CAAT box结构,发现了不同于人该基因的转录因子Ik-2、Ik-1、CREB和NF-E2,推测断定牛GDF5基因启动子转录起始位点位于翻译起始密码子ATG上游-90bp位置。
     5.采用PCR-RFLP酶切技术检测了牛UQCC和GDF5基因的3个位点的多态性,在牛群中进行基因分型,并与体尺性状进行关联分析,结果发现:牛UQCC基因的A2691T SNP基因型与总群体的尻长、胸深和坐骨端宽极显著相关(P<0.01),A3150G SNP基因型与总群体的体长和胸深显著相关(P<0.05),两位点联合基因型与总群体的体长、胸深和坐骨端宽显著相关(P<0.05);牛GDF5基因的T586C SNP基因型与普通牛总群体的体长和腰角宽极显著相关(P<0.01),与BMY牛群体的体长显著相关(P<0.05),与秦川牛的体长、体高和腰角宽极显著相关(P<0.01),与秦杂牛组合的体长、腰高和腰角宽显著相关(P<0.05)。
     6.采用AS-PCR技术分析了牛ADAMTSL3基因和ZBTB38基因的3个位点的多态性,在牛群中进行基因分型,并与体尺性状进行关联分析,结果发现:牛ADAMTSL3基因的T1532C SNP基因型与总群体的体尺指标无显著相关(P>0.05),C1899T SNP基因型与总群体的坐骨端宽显著相关(P<0.05),两位点联合基因型与总群体的体长、胸深、胸围和坐骨端宽显著相关(P<0.05);牛ZBTB38基因的A841G SNP基因型与总群体的体长显著相关(P<0.05),与秦杂牛组合群体腰高和胸围显著相关(P<0.05),与雪龙黑牛群体体高显著相关(P<0.05)。
     7.采用创造酶切位点PCR技术分析了牛CDK6基因的1个位点的多态性,在牛群中进行基因分型,并与体尺性状进行关联分析,结果发现:牛CDK6基因的T-1075C SNP基因型与总群体的体长和胸围显著相关(P<0.05)。
     8.采用DNA直接测序技术分析了牛ZBTB38基因的9个位点的多态性,通过单倍型分析、连锁不平衡分析,在牛群中进行基因分型,并与体尺性状进行关联分析,结果发现:牛ZBTB38基因9个SNP位点形成单倍型中频率大于0.03的有TTGCTGCGG(0.643)、TTATTGCGG(0.137)、CCGCTCTAA(0.130)和CCGCCGCGA(0.041)等4个;T2145C、T2286C、G2457C、C2583T、G2643A、G2676A等6个SNP位点可作为一个整体(r2>0.33),G2323A和C2325T可作为一个整体(r2>0.33);T2145C、T2286C、G2457C、C2583T、G2643A、G2676A等6个SNP与牛总群体体尺数据无显著相关(P>0.05),T2409C SNP与牛总群体体尺数据亦无显著相关(P>0.05),仅G2323A和C2325T SNP与总群体的体长、体高和尻长有显著相关关系(P<0.05)。
     9.结合多重PCR技术,从牛65个多态位点中筛选了31目的位点,采用中通量多态分析方法——飞行质谱MALDI-TOF技术对分析了牛31个多态位点的多态性,通过单倍型分析、连锁不平衡分析,在牛群中进行基因分型,并与体尺性状进行关联分析,结果发现:8个SNP位点为假SNP ,23个为有效SNPs,并分布于位于2号、19号、21号、29号、4号(4个)、13号(4个)、15号(6个)、17号(2个)、22号(3个)染色体上;其中15号染色体上SNP58、SNP60、SNP63可作为一个整体(r2>0.33),SNP61与SNP63可作为一个整体(r2>0.33),22号染色体上的SNP22与SNP25可作为一个整体(r2>0.33);GDF5基因的SNP9、col1A2基因的SNP36和SNP37、ZBTB38基因的SNP46、UQCC基因的SNP49和SNP50、UCP2基因的SNP55、SNP58、SNP60、SNP61和SNP63,这11个SNPs与牛总群体体尺性状无显著相关(P>0.05),CDK6基因的SNP4基因型与总群体的腰高和胸围显著相关(P<0.05),CDK6基因的SNP5基因型与总群体的腰角宽显著相关(P<0.05),HHIP基因的SNP12基因型与总群体的体高显著相关(P<0.05),HHIP基因的SNP13基因型与总群体的体长和体高显著相关(P<0.05),IHH基因的SNP14基因型与总群体的胸深极显著相关(P<0.01),GHPL基因的SNP16基因型与总群体的体高显著相关(P<0.05),PTHR1基因的SNP22基因型与总群体的体长、体高、腰角宽、胸围和坐骨端宽显著相关(P<0.05),PTHR1基因的SNP25基因型与总群体的体长、腰角宽、胸围和坐骨端宽显著相关(P<0.05),col1A1基因的SNP30基因型与总群体的坐骨端宽显著相关(P<0.05),INS基因的SNP41基因型与总群体的尻长显著相关(P<0.05),GDF5基因的SNP52基因型与总群体的体长和体高显著相关(P<0.05),UCP2基因的SNP64基因型与总群体的腰角宽和胸围显著相关(P<0.05)。
The e-PCR and DNA sequence analysis techniques were applied not only to clone and predict several bovine genes but also analyze partial stuctures and functions of these genes promoters in ten bovin breeds, including Qinchuan (QC), Luxi (LX), Nanyang (NY), Jiaxian Red (JR), Xianan (XN), Brahma (BH), Brahma crossed with descendant of male murry grey and female Yunnan yellow cattle (BMY), Angus crossed with descendant of male Japanese Black cattle and female Fuzhou cattle (XL), Qinchuan improvement steers (QI) and Simmental and Luxi crossbred steers (SL). Combining biological software and bioinformatics, the characteristics of 13 body measurement traits related to these genes sequences of DNA and protein were analyzed. The tissue expression of these 13 genes were analyzed by Real-time-PCR and bioinformatics, while the polymorphism of these genes were analyzed by RT-PCR, bioinformatics, PCR-RFLP, AS-PCR, CARS-PCR-RFLP and MALDI-TOF. The frequency, equitability, total heritability and relevance of body measurement traits of 13 SNPs were analyzed by Bio-statistics.In order to produce scientific proof for marker-assisted selection of growth and devolopment traits of chinese yellow cattle and built scientific basis for high-yield breeding skills of new breed, some of the effecitve function genes and molecular marks were selected in our study reaserch. The main resules of our study are as follwed:
     1. The whole cDNA sequence , intron of UQCC gene and partial promoter sequences of GDF5 and CDK6 gene were separated, cloned and identified from Qinchuan cattle by e-PCR, RT-PCR and genomics.
     2. The characteristics and functions of gene sequences and amino acid information in 13 genes, including UQCC, GDF5, ADAMTSL3, ZBTB38, CDK6, HHIP, IHH, GHRL, PTHR1, UCP2, collA1 and collA2, were predicted and analyzed by bioinformatics. The secondary and tertiary structure, signal peptide sequence, transmembrane region and functional domain of these 13 proteins were predicted and analyzed, too. The phylogenetic trees were also built by comparison with other species and conservative analysis of corresponding proteins in other species.
     3. Real-time-PCR showed the content order of UQCC in different cattle tissues and the order from high to low is spleen, heart, trachea, large intestine, fat, testis, kinney, muscle and bladder, while the content order of ADAMTSL3 is testis, heart, fat, stomach, small intestine, liver, lung, trachea, kidney, spleen, large intestine and muscle.
     4. Combinding abroad articles about human promter genes, bioinformatics were used to analyze the strcture and function of bovine GDF5 and CDK6 gene. Several different cattle transcription factors, named AML-LA, CdxA, GTATA-1 and MZF1, were found, which implied the transcriptional start site in GDF5 was at -359 bp position before ATG and the GT repetitive sequence between -457 bp and -423 bp could enhance gene transcription, while the samllest enhancer was between -458 bp and -377 bp and no TATA box or CAAT box was found. On the other hand, Lk-2, Ik-1, CREB and NF-E2 were found in CDK6 gene, with no TATA box or CAAT box in CDK6 either,which implied that the transcriptional start site was at -90 bp before ATG.
     5. PCR-RFLP technology were adopted to detect the polymorphism of three locus of UQCC gene and GDF5 gene and analysis of genotype identification in bovine population and their association with body measurement traits were conducted, the results show that the genotypes of A2691T SNP of bovine UQCC gene have a highly remarkable correlation with Rump Length (RL), Chest Depth (CD) and Pin Bone Width (PBW) in the total population (P<0.01), the genotypes of A3150G SNP have an significant association with Body Length (BL) and CD in the total population(P<0.05), joint genotypes are conspicuously relavant with BL, CD, PBW in the total population (P<0.05); the genotypes of T586C SNP of GDF5 gene have a highly remarkable correlation with BL, Hip Width (HW) in Bos Taurus population (P<0.01), they are also significantly correlated with BL in BMY population (P<0.05) and BL, Hip Height (HH) and HW in QI population (P<0.05).
     6. Three SNPs polymorphism of bovine ADAMTSL3 gene and ZBTB38 gene were studied using AS-PCR technology, at the same time, genotypes identification in bovine population and their association with body measurement traits were analyzed. The result show that the genotypes of T1532C SNP of bovine ADAMTSL3 gene have no significant correlation with body measurement in total population (P>0.05), and the genotypes of C1899T SNP there is a remarkable correlation with PBW(P<0.05), joint genotypes is significantly relavant with BL, CD, Heart Girth (HG) and PBW in the total population(P<0.05); the genotypes of A841G SNP of bovine ZBTB38 gene have a conspicuous association with BL in total population (P<0.05), HH and HG in the QI population (P<0.05) and Withers Height (WH) in XL population.
     7. ACRS-PCR-RFLP technology were adopted to study a SNP polymorphism of bovine CDK6 gene, genotype identification in bovine population and their association with body measurement were analyzed, the results show that the genotypes of T-1075C SNP of CDK 6 gene have a remarkable association with BL and HG in total population (P<0.05).
     8. The polymorphism of 9 locus of bovine ZBTB38 gene were studied through DNA sequencing. The analysis results of haplotype, linkage disequilibrium, genotype identification in bovine population and their association with body measurement traits show that, from the nine SNPs, four SNPs haplotype frequencies, including TTGCTGCGG (0.643), TTATTGCGG (0.137), CCGCTCTAA (0.130) and CCGCCGCGA (0.041), are higher than 0.03; SNPs of T2145C, T2286C, G2457C, C2583T, G2643A, G2676A could be seen as an integrity (r2>0.33), G2323A and C2325T could be seen as an integrity (r2>0.33), SNPs of T2145C, T2286C, G2457C, C2583T, G2643A, G2676A have no correlation with boty measurement traits in total bovine population (P>0.05), only SNPs of G2323A and C2325T have an significant association with body measurement traits of BL,WH and RL in the total population.
     9. Thirty one locus were selected from bovine 65 SNPs to anyalze their polymorphism using MALDI-TOF and multi-PCR technology. Haplotype, linkage disequilibrium, genotyope identification in bovine population and their association with body measurement traits were analyzed. The results show that 8 locus of SNP are faulse, 23 SNPs are effective and located on the chromosome of 2, 19, 21, 29, 4 (4 SNPs), 13 (4 SNPs), 15 (6 SNPs), 17 (2 SNPs) and 22 (3 SNPs) respectively. From all these effective SNPs, three SNPs on chromosome 15, including SNP 58, SNP 60 and SNP 63, could be seen as an integrity (r2>0.33); SNP22 and SNP25 of chromosome 22 could be seen as an integrity (r2>0.33); eleven SNPs, including SNP9 of GDF5 gene, SNP36 and SNP37 of col1A2 gene, SNP46 of ZBTB38 gene, SNP49 and SNP50 of UQCC gene, SNP55, SNP58, SNP 60, SNP61 and SNP 63 of UCP2 gene, have no significant correlation with body measurement traits in total bovine population (P>0.05); the genotypes of SNP4 on CDK6 gene are significantly associated with HH and HG in the total population (P<0.05), the genotypes of SNP5 on CDK6 gene have prominent association with PBW in the total pouplation (P<0.05), genotypes of SNP12 on HHIP gene are significantly relavant with WH in the total population (P<0.05), genotypes of SNP13 on HHIP gene are significantly relavant with BL and WH in the total population (P<0.05), genotypes of SNP14 on IHH gene have highly significant difference with CD in the total population (P<0.01), genotypes of SNP16 on GHPL gene are have a remarkable association with WH in the total population (P<0.05), genotypes of SNP22 on PTHR1 gene are significantly associated with BL, WH, PBW, HG and HW in the total population (P<0.05), genotypes of SNP25 on PTHR1 gene are significantly relavant with BL, HW, HG and PBW in the total population (P<0.05), genotypes of SNP30 on col1A1 gene are significantly associated with PBW in the total population (P<0.05), genotypes of SNP41 on INS gene have a distinct association with RL in the total population (P<0.05), the genotypes of SNP52 on GDF5 gene have a remarkable correlation with BL and WH in the total population (P<0.05), genotypes of SNP64 on UCP2 gene have significant correlation with HW and HG in the total population (P<0.05).

引文

Ahmadian A, Gharizadeh B, O’Meara D, Odeberg J, Lundeberg J. 2001. Genotyping by apyrase- mediated allele-specific extension [J]. Nucl Acids Res, 29(24): e121
    Al-Aynati M M, Radulovich N, Ho J, Tsao M S. 2004. Overexpression of G1-S cyclins and cyclin dependent kinases during multistage human pancreatic duct cell carcinogenesis [J]. Clin Cancer Res, 10(19): 6598~6605
    Albagli O, Dhordain P, Deweindt C, Lecocq G, Leprince D. 1995. The BTB/POZ domain: A new protein–protein interaction motif common to DNA and actin binding proteins [J]. Cell Growth Differ, 6: 1193~1198
    Alves A M, Carr F J. 1988. Dot blot detection of point mutations with adjacently hybridising synthetic oligonucleotide probes [J]. Nucl Acids Res, 16(17): 8723
    Aravind L, Koonin E V. 1999. Fold prediction and evolutionary analysis of the POZ domain: Structural and evolutionary relationship with the potassium channel tetramerization domain [J]. J Mol Biol, 285: 1353~1361
    Argyropoulos G, Brown A M, Willi S M, Zhu J, He J, Reitman M, Gevao S M, Spruill I, Garvey W T. 1998. Effects of mutations in the human uncoupling protein 3 gene on the respiratory quotient and fatoxidation in severe obesity and type 2 diabetes [J]. Clin Invest, 102(7): 1345~1347
    Arvat E, Di Vito L, Broglio F, Papotti M, Muccioli G, Dieguez C, Casanueva F F, Deghenghi R, Camanni F, Ghigo E. 2000. Preliminary evidence that ghrelin, the natural GH secretagogue-receptour Ligand, strongly stimulates GH secretion in human [J]. Endocrinol Invest, 23: 493~495
    Babon J J, McKenzie M, Cotton R G H. 1999. Mutation detection using fluorescent enzyme mismatch cleavage with T4 endonuclease VII [J]. Electrophoresis, 20: 1162~1170
    Bak M, Hansen C, Friis Henriksen K, Tommerup N. 2001. The human hedgehog2interacting protein gene: structure and chromosome mapping to 4q31.21→q31.3 [J]. Cytogenet Cell Genet, 92: 300~303
    Banér J, Isaksson A, Waldenstrm E, Jarvius J, Landegren U, Nilsson M. 2003. Parallel gene analysis with allele- specific padlock probes and tag microarrays [J]. Nucl Acids Res, 31(17): e103
    Bao Y P, Huber M, Wei T F, Marla S S, Storhoff J J, Müller U R. 2005. SNP identification in unamplified human genomic DNA with gold nanoparticle probes [J]. Nucl Acids Res, 33(2): e15
    Batley J, Hayes P K. 2003. Development of high throughput single nucleotide polymorphism genotyping for the analysis of Nodaria (cyanobacteria) population genetics [J]. J Phycol, 39: 248~252
    Baughn L B, Liberto M D, Wu K, Toogood P L, Louie T, Gottschalk R, Niesvizky R, Cho H, Ely S, M AS,Moore M A. 2006. Chen-Kiang S, A novel orally active small molecule potently induces g1 arrest in primary myeloma cells and prevents tumor growth by specific inhibition of cyclin-dependent kinase 4/6 [J]. Cancer Res, 66(15): 7661~7667
    Berman D M, Karhadkar S S, Hallahan A R, Pritchard J I, Eberhart C G, Wat kins D N, Chen J K, Cooper M K, Taipale J, Olson J M, Beachy P A. 2002. Medulloblastoma growth inhibition by hedgehog pathway blockade [J]. Science, 297: 1559~1561
    Berman D M, Karhadkar S S, Mait ra A, Montes De Oca R, Gerstenblit H M R, Briggs K, Parker A R, Shimada Y, Eshleman J R, Watkins D N, Beachy P A. 2003. Widespread requirement for Hedgehogligand stimulation in growth of digestivet ract tumours [J]. Nature, 425: 846~851
    Bettoun J D, Minagwa M, Hendy G N, Alpert L C, Goodyer C G, Goltzman D, White J H. 1998. Developmental upregulation of human parathyroid hormone (PHT)/PTH-related peptide receptor gene expression from conserved and human-specific promoters [J]. Clin Invest, 102: 958~967
    Bosse K, Regina C, Betz, Lee Y, Thomas F, Wienker, Reis A, Kleen H, Propping P, CichonS, Markus M, N?then. 2000. Localization of a gene for syndactyly type 1 to chromosome 2q34-2q36 [J ]. AmJ Hum Genet, 67: 492~497
    Bowers C Y. 2001. Unnatural growth hormone-releasing acylate peptide begets natural ghrelin [J]. Clin Endocrino Metab, 86: 1464~1469
    Brommage R, Hotchkiss C E, Lees C J, Stancill M W, Hock M J, Jerome C P.1999. Daily treatment with human recombinant parathyroid hormone-(1-34), LY333334, for 1 year inereases bone mass in ovariectomized monkeys [J]. Clin Endocrinol Metba, 84: 3757~3763
    Bundock, P C, Cross M J, Shapter F M, Henry R J. 2006. Robust allele-specific polymerase chain reaction markers developed for single nucleotide polymorphisms in expressed barley sequences [J]. Theor. Appl. Genet, 112: 358~365
    Buts J P, De Keyser N, Kolanowski J, Van Hoof F. 1990. Hormonal regulation of the rat small intestine: Responsiveness of villus and crypt cells to insulin during the suckling Period and unresponsiveness after weaning [J]. Pediatr Res, 27: 161~164
    Byers P H, Pyeritz R E, Uitto J. 1992. Research perspectives in heritable disorders of connective tissue [J]. Matrix, 12: 333~342
    Cable D R, Stephens J W, Cooper J A, Miller G J, Humphries S E. 2006. Variation in the UCP2-UCP3 gene cluster predicts the development of type 2 diabetes in healthy middlaged ment [J]. Diabetes, 55(5): 1504~1511
    Cahill P, Bakis M, Hurley J, Kamath V, Nielsen W, Weymouth D, Dupuis J, Doucette Stamm L, Smith D R. 2003. Exo-proofreading, a versatile SNP scoring technology [J]. Genome Res, 13(5): 925~931
    Chakravarti A. 1999. Population genetics-making sense out of sequence [J]. Nat Genet, 21(1):56~60
    Chang J G, Chiou S S, Perng L, Chen T C, Liu T C, Lee L S, Chen P H, Tang T K. 1992a. Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency by natural and amplification created restriction sites: five mutations account for most G6PD deficiency cases in taiwan [J]. Blood, 80: 1079~1082
    Chang J G, Chen P H, Chiou S S, Lee L S, Perng L, Liu T C. 1992b. Rapid diagnosis of P-Thalassemia mutations in Chinese by naturally and amplified created restriction sites [J]. Blood, 80: 2092~2096
    Chang S C, Hoang B, Thomas J T, Vukicevic S, Luyten F P, Ryba N J, Kozak C A, Reddi A H, Moos M. 1994. Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-b superfamily predominantly expressed in long bones during human embryonic development [J]. Biol Chem, 269: 28227~28234
    Chee M, Yang R, Hubbell E, Berno A, Huang X C, Stern D, Winkler J, Lockhart D J, Morris M S, Fodor S P. 1996. Accessing genetic information with high-densityDNAarrays [J]. Science, 274: 610~614
    Christa L, Zarski J P, Nalpas B, Augereau B, Bréchot C. 1992. Nested polymerase chain reaction on cellular DNA in plasma: a rapid method to investigate the collagen type I A2 MspI polymorphic restriction site in alcoholic patients [J]. Human Genetics, 88 (5): 537~540
    Chujo T, Anhoward S, Akeda K, Miyamoto K, Muehleman C, Attawia M, Andersson G, Masuda K. 2006. Effects of growth differentiation factor-5 on the intervertebral disc-in vitro bovine study and in vivo rabbit disc degeneration model study [J]. Spine, 31: 2909~2917
    Chuang P T, Kawcak T, McMahon A P. 2003. Feedback control of mammalian Hedgehog signaling by the Hedgehog-binding protein, Hip1, modulates Fgfsignaling during branching morphogenesis of the lung [J]. Genes Dev, 17: 342~347
    Collins F S, Guyer M S, Chakravarti A. 1997. Variations on a theme: Cataloging human DNA sequence variation [J]. Science, 278(5343): 1580~1581
    Comai L, Young K, Till B J, Reynolds S H, Greene E A, Codomo C A, Enns L C, Johnson J E, Burtner C, Odden A R, Henikoff S. 2004. Efficient discovery of DNA polymorphisms in natural populations by Ecotilling [J]. Plant J, 37: 778~786
    Comai1 L, Henikoff S. 2006. TILLING: Practical single-nucleotide mutation discovery [J]. Plant J, 45: 684~694
    Cooper D N, Smith B A, Cooke H J, Niemann S, Schmidtke J. 1985. An estimate of unique DNA sequence heterozygosity in the human genome [J]. Hum Genet, 69: 201~205
    Costoya J A. 2007. Functional analysis of the role of POK transcriptional repressors [J]. Briefings In Functional Genomics And Proteomics, 6(1): 8~18
    Cotton R H, Rodrigues NR, Campbell R D. 1988. Reactivity of cytosine and thymine in single base-pair mismatches with hydroxylamine and osmiumtetroxide and its application to the study ofmutations [J]. PNAS, 85 (2): 4397~4401
    Cram E J, Liu B D, Bjeldanes L F and Firestone G L. 2001. Indole-3-carbinol inhibits CDK6 expression in human MCF-7 breast cancer cells by disrupting Sp1 transcription factor interactions with a composite element in the CDK6 gene promoter [J]. Biol. Chem, 276: 22332~22340
    Crockett A O, Wittwer C T. 2001. Fluorescein- labeled oligonucleotides for real-time PCR: Using the inherent quenching of deoxyguanosine nucleotides [J]. Anal Biochem, 290(1): 89-97
    Date Y, Kojima M, Hosoda H, Sawaguehi A, Mondal M S, Suganuma T, Matsukura S, Kangawa K, Nakazato M. 2000. Ghrelin, a novel growth hormone releasing acylated peptide, is synthesized in a distinct endocrine cell type in the gastrointestinal tracts of rat and humans [J]. Endocrinology, 141: 4255~4261
    Day I N, Humphries S E. 1999. Electrophoresis for genotyping: Microtiter array diagonal gel electrophoresis on horizontal polyacrylamide gels, hydrolink, or agarose [J]. Anal Biochem, 222 (2): 389~395
    Dieguez C, Casanueza F. 2000. Ghrelin: a step forward in the understanding of somatotroph cell fuction and growth regulation [J]. Eur J Endocrinol, 142: 413~417
    Di Vito L, Broglio F, Benso A, Gottero C, Prodam F, PaPotti M, Muccioli G, Dieguez C, Casanueva F F, Deghenghi R, Ghigo E, Arvat E. 2002. The GH-releasing effeet of ghrelin, a natural secretgogue, is only blunted by the infusion of exogenous somatostatin in human [J]. Clin Endocrinol (Oxf), 56: 643~648
    Dunean E L, Brown M A, Sinsheimer J, Bell J, Carr A J, Wordsworth B P, Wass J A. 1999. Suggestive linkage of the parathyroid receptor type 1 to osteoporosis [J]. Bone Miner Res, 14: 1993~1999 Edwards C J, Frances-West P H. 2001. Bone morphogenetic proteins in the development and healing of synovial joints [J]. Semin Arthritis Rheu, 31: 33~42
    Eiken HG, Odland E, Boman H, Skjelkvale1 L, Engebretsen LF, Apold J. 1991. Application of naturaland amplification created restriction sites for the diagnosis of PKU mutations [J]. Nucleic Acids Research, 19: 1427~1430
    Elenitoba-Johnson K S J, Bohling S D. 2001. Solution- based scanning for single-base alterations using a double- stranded DNA binding dye and fluorescence-melting profiles [J]. Am J Pathol, 159: 845~853
    Ericson K K, Krull D, Slomiany P and Grossel M J. 2003. Expression of cyclin-dependent kinase 6, but not cyclin-dependent kinase 4, alters morphology of cultured mouse astrocytes [J]. Mo. Cancer R, 1: 654~664
    Erlacher L, McCartney J, Piek E, ten Dijke P, Yanagishita M, Oppermann H, Luyten FP. 1998. Cartilage-derived morphogenetic proteins and osteogenic protein-1 differentially regulate osteogenesis [J]. Bone Miner Res, 13: 383~392
    Faham M, Zheng J, Moorhead M, Fakhrai Rad H, Namsaraev E, Wong K, Wang Z, Chow S G, Lee L, Suyenaga K, Reichert J, Boudreau A, Eberle J, Bruckner C, Jain M, Karlin Neumann G, Jones H B, Willis T D, Buxbaum J D, Davis R W. 2005. Multiplexed variation scanning for 1 000 amplicons in hundreds of patients usingmismatch repair detection (MRD) on tag arrays [J]. PNAS, 102(41): 14717~14722
    Fakhrai-Rad H, Zheng J, Willis T D. 2004. SNP Discovery in pooled samples with mismatch repair detection [J]. Genome Res, 14 (7): 1404~1412
    Faruqi F A, Hosono S, Driscoll M D, Dean F B, Alsmadi O, Bandaru R, Kumar G, Grimwade B, Zong Q, Sun Z, Du Y, Kingsmore S, Knott T, Lasken RS. 2001. High-throughput genotyping of single nucleotide polymorphisms with rolling circle amplification [J]. BMC Genom ics, 2: 4
    Feighner S D, Tan C P, McKee K K, Palyha O C, Hreniuk D L, Pong S S, Austin C P, Figueroa D, MacNeil D, Cascieri M A, Nargund R, Bakshi R, Abramovitz M, Stocco R, Kargman S, O’Neill G, Van Der Ploeg L H, Evans J, Patchett A A, Smith R G, Howard A D. 1999. Receptor for motilin identified in the human gastrointestinal system [J]. Science, 284: 2184~2188
    Feng K, Li J, Jiang J H, Shen G L, Yu R G. 2006. QCMdetection of DNA targets with single-base mutation based on DNA ligase reaction and biocatalyzed deposition amplification [J]. Biosens and Bioelect, 22(8): 1651~1657
    Filion G J P, Zhenilo S, Salozhin S, Yamada D, Prokhortchouk E, Defossez P A. 2006. A family of human zinc finger proteins that bindmethylated DNA and repress transcription [J]. Mol Cell Biol, 26(1): 169~181
    Fischer S G, Lerman L S. 1979. Length-independent separation of DNA restriction fragments in two- dimensional gel electrophoresis [J]. Cell, 16 (1): 191~200
    Fleury C, Neverova M.Collins S, Raimbault S, Champigny O, Levi-Meyrueis C, Bouillaud F, Seldin M F, Surwit R S, Ricquier D, Warden C H. l997. Unconpling protein-2: a novel gene linked to obesity and hyperins jlinemia [J]. Nat Genett, 15(3): 269 ~272
    Francis-West P H, Abdelfattah A, Chen P, Allen C, Parish J, Ladher R, Allen S, MacPherson S, Luyten F P, Archer CW. 1999. Mechanisms of GDF-5 action during skeletal development [J]. Development, 126: 1305~1315
    French D J, Archard C L, Brown T, McDowel D G. 2001. HyBeaconTMprobes: A newtool for DNA sequence detection and allele discrimination [J]. Mol Cell Probes, 15(6): 363~374
    Fujimoto T, Anderson K, Jacobsen S E, Nishikawa S I and Nerlov C. 2007. Cdk6 blocks myeloiddifferentiation by interfering with Runx1 DNA binding and Runx1-C/EBPalpha interaction [J]. EMBO, 26: 2361~2370
    Fukushima N, Walter K M, Uek TSato N, Mat subayashi H, Cameron J L, Hruban R H, Canto M, Yeo C J, Goggins M. Diagnosing pancreatic cancer using met hylation specific PCR analysis of pancreatic juice [J]. Cancer Biol Ther, 2003, 2: 78~83
    Ganguly A, Rock M J, Prockop D J. 1993. Conformation- sensitive gel electrophoresis for rapid detection of single- base differences in double-stranded PCR products and DNA fragments: Evidence for solvent- induced bends in DNA heteroduplexes [J]. PNAS, 90 (21): 10325-10329
    Gao Bo, Guo Jingzhi, She Chaowen, Shu A, Yang M, Tan Z, Yang X, Guo S, Feng G, He L. 2001. Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1[J]. Nature genetics, 28: 386~ 388
    Gao G, Westling J, Thompson V P, Howell T D, Gottschall P E, Sandy J D. 2002. Activation of the proteolytic activity of ADAMTS4 (aggrecanase-1) by C-terminal truncation [J]. J Biol Chem, 277(13): 110341~11041
    Garnero P, Borel O, Grant S F, Ralston S H, Delmas P D. 1998. Collagen I alphal Sp1 polymorphism, bone mass, and bone turn over in healthy French Premenopausal women: The OFELY study [J]. J Bone Miner Res, 13: 813~817
    Garcia-Giralt N, Nogués X, Enjuanes A, Puig J, Mellibovsky L, Bay-jensen A, Carreras R, Balcells S, Díez-pérez A, Grinberg A. 2002. Two new single-nucleotide polymorphism in the COL1A1 upstream regulatory region and their relationship to bone mineral density [J]. J Bone Miner Res, 17:384~393
    Gaunt T R, Hinks L J, Rassoulian H, Hinks L J, Rassoulian H, Day I N M. 2003. Manual 768 or 384 well microplate gel‘dry’electrophoresis for PCR checking and SNP genotyping [J]. Nucl Acids Res, 31(9): e48
    Gaylord B S, Massie M R, Feinstein S C, Bazan G C. 2005. SNP detection using peptide nucleic acid probes and conjugated polymers: Applications in neurodegenerative disease identification [J]. PNAS, 102: 34~39
    Gilbert R P, Bailey D R C, Shannon N H. 1993. Linear body measurements of cattle before and after 20 years of selection for postweaning gain when fed two different diets [J]. J Anim Sci, 71: 1712~1720
    Goldrick M M, Kimball G R, Liu Q, Martin L A, Sommer S S, Tseng J Y. 1996. NIRCA: A rapid robust method for screening for unknown point mutations [J]. Biotechniques, 21(1): 106~112
    Goldring M B, Tsuchimochi K, and Ijiri K. 2006. The control of chondrogenesis [J]. Cell Biochem, 97: 33~44
    Gottgens B, Barton L M, Gilbert J G, Bench A J, Sanchez M J, Bahn S, Mistry S, Grafham D, McMurray A, Vaudin M, Amaya E, Bentley D R, Green A R, Sinclair A M. 2000. Analysis of vertebrate SCL loci identifies conserved enhancers [J]. Nature Biotechnol, 18: 181~186.
    Gresham D, Ruderfer D M, Pratt S C. 2006. Genome- wide detection of polymorphisms at nucleotide resolution with a single DNA microarray [J]. Science, 311(5769): 1932~1936
    Grnat F, Reid D M, Blake G, Herd R, Fogelman I, Ralston SH. 1996. Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I a1pha 1 gene [J]. Nat Genet, 14: 203~205
    Grossel M J, Hinds P W. 2006. Beyond the cell cycle: a new role for Cdk6 in differentiation [J]. CellBiochem, 97:485~493
    Gualillo O, Lago F, Gómez-Reino J, Casanueva F F, Dieguez C. 2003. Ghrelin a Widespread Hormone: Insights into molecular and cellular regulation of its expression and mechanism of action [J]. FEBS Lett, 552: 105~109
    Gudbjartsson D F, Walters G B, Thorleifsson G., Stefansson H, Halldorsson B V, Zusmanovich P, Sulem P, Thorlacius S, Gylfason A, Steinberg S, Helgadottir A, Ingason A, Steinthorsdottir V, Olafsdottir E J, Olafsdottir G H, Jonsson T, Borch-Johnsen K, Hansen T, Andersen G, Jorgensen T, Pedersen O, Aben K K, Witjes J A, Swinkels D W, den Heijer M, Franke B, Verbeek A L, Becker D M, Yanek L R, Becker L C, Tryggvadottir L, Rafnar T, Gulcher J, Kiemeney L A, Kong A, Thorsteinsdottir U, Stefansson K. 2008. Many sequence variants affecting diversity of adult human height [J]. Nat Genet, 40, 609~615
    Gunderson K L, Steemers F J, Lee G, Mendoza L G, Chee M S. 2005. A genome-wide scalable SNP genotyping assay using microarray technology [J]. Nature Genet, 37: 549~554
    Gundry C N, Vandersteen J G, Reed G H, Pryor R J, Chen J, Wittwer C T. 2003. Amplicon melting analysis with labeled primers: A closed-tube method for differentiating homozygotes and heterozygotes [J]. Clin Chem, 49: 396~406
    Gwee P C, Tang K, Sew P H, Lee E J, Chong S S, Lee C G. 2005. Strong linkage disequilibrium at the nucleotide analogue transporter ABCC5 gene locus [J]. Pharmacogenet Genomics, 15(2): 91~104
    Hacia J G, Brody L C, Chee M S, Fodor S P, Collins F S. 1996. Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis [J]. Nature Genet, 14: 441~447
    Haff LA, Smirnov I P. 1997. Single- nucleotide polymorphism identification assays using a thermostable DNA polymerase and delayed extraction MALDI-TOF mass spectrometry [J]. Genome Res, 7: 378~388
    Hall NG, Klenotic P, Anand-Apte B, Apte SS. 2003. ADAMTSL-3/punctin-2, a novel glycoprotein in extracellular matrix related to the ADAMTS family of metalloproteases [J]. Matrix Biology, 22: 501~510
    Hancock D B, Eijgelsheim M, Wilk J B, Gharib S A, Loehr L R, Marciante K D, Franceschini N, Yannick M T, Durme A V, Chen T H, Barr R G, Schabath M B, Couper D J, Brusselle G G, Psaty B M, van Duijn C M, Rotter J I, Uitterlinden A G, Hofman A, Punjabi N M, Rivadeneira F, Morrison A C, Enright P L, North K E, Heckbert S R, Lumley T, Stricker B H C, O'Connor G T, London S J. 2010. Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function [J]. Nature genetics. 42(1): 45~52
    Harada M, Takahara M, Zhe P, Otsuji M, Iuchi Y, Takagi M, Ogino T. 2007. Developmental failure of the intra-articular ligaments in mice with absence of growth differentiation factor 5 [J]. Osteoarthritis Cartilage, 15: 468~474
    Hardenbol P, Baner J, Jain M, Nilsson M, Namsaraev E A, Karlin-Neumann G A, Fakhrai-Rad H, Ronaghi M, Willis T D, Landegren U, Davis R W. 2003. Multiplexed genotyping with sequence- tagged molecular inversion probes [J]. Nature Biotechnol, 21: 673~678
    Hardenbol P, Yu F, John Belmont J, Mackenzie J, Bruckner C, Brundage T, Boudreau A, Chow S, Eberle J, Erbilgin A, Falkowski M, Fitzgerald R, Ghose S, Iartchouk O, Jain M, Karlin Neumann G, Lu X, Miao X, Moore B, Moorhead M, Namsaraev E, Pasternak S, Prakash E, Tran K, Wang Z, Jones H B, Davis R W, Willis T D, Gibbs R A. 2005. Highly multiplexed molecular inversion probe genotyping: Over 10 000targeted SNPs genotyped in a single tube assay [J]. Genome Res, 15: 269~275
    Hartikka H , Kuurila K, Korkko J , Kaitila I, Grénman R, Pynn?nen S, Hyland J C, Ala-Kokko L. 2004. Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients [J]. Hum Mutat, 24: 147~154
    Hart J R, Johnson MD, Barton J K. 2004. Single- nucleotide polymorphism discovery by targeted DNA photocleavage [J]. PNAS, 101(39): 14040~14044
    Hawkins G A, Hoffman L M. 1997. Base excision sequence scanning [J]. Nature Biotechnol, 15: 803~804
    Hazbón M H, Alland D. 2004. Hairpin primers for simplified single-nucleotide polymorphismanalysis of Mycobacteriumtuberculosis and other organisms [J]. J ClinMicrobiol, 42(3): 1236~1242
    Heegaard A, Jorgensen H L, Vestergaard A W, Hassager C, Ralston S H. 2000. Lack of influence of collagen type Ialphal SP1 binding site polymorphism on the rate of bone loss in a cohort of postmenopausal Danish women followed for 18 years [J]. Caleif Tissue Int, 66: 409~413
    Hill D J, Nilner R D G. 1985. Insulin as agrowth faetor [J]. Pediatr Res, 9: 879~886.
    Hirohata S, Wang L W, Miyagi M, Yan L, Seldin M F, Keene D R, Crabb J W, Apte S S. 2002. Punctin, a novel ADAMTS-like molecule (ADAMTSL-1) in extracellular matrix [J]. J Biolo Chem, 277: 12182~12189
    Holland P M, Abramson R D, Watson R, Gelfand G H. 1991. Detection of specific polymerase chain reaction product by utilizing the 5’→3’exonuclease activity of Thermus aquaticus DNA polymerase [J]. PNAS, 88(16): 7276~7280
    Hoskins B E, Thorn A, Scambler P J, Beales P L. 2003. Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique [J]. HumMut, 22(2): 151~157
    Hoskins P J, Leslie P D G, Pyke D A. 1985. Height at diagnosis of diabetes in children: A study In identical twins [J]. Br Med J, 290: 278~280
    Hosoda H, Kojima M, Matsuo H, Kangawa K. 2000. Ghrenlin and des-acyl ghrenlin: two major forms of rat ghrenlin peptide in gastrointestinal tissue [J]. Biochem Biophys Res Commun, 279: 909~913
    Howell W M, Jobs M, Gyllensten U, Brookes A J. 1999. Dynamic allele- specific hybridization. A new method for scoring single nucleotide polymorphisms [J]. Nature Biotechnol, 17(1): 87~88
    Howell W M, Jobs M, Brookes A J. 2002. iFRET: An improved fluorescence system for DNA-melting analysis [J]. Genome Res, 12(9): 1401~1407
    Hultin E, Kaller M, Ahmadian A, Lundeberg J. 2005. Competitive enzymatic reaction to control allele-specific extensions [J]. Nucl Acids Res, 33(5): e48
    Hu M G., Deshpande A, Enos M, Mao D, Hinds E A, Hu G F, Chang R, Guo Z, Dose M, Mao C, Tsichlis P N, Gounari F, Hinds P W. 2009. A requirement for cyclin-dependent kinase 6 in thymocyte development and tumorigenesis [J]. Cancer Res, 69: 810~818
    Hurley J D, Engle L J, Davis J T, Welsh A M, Welsh G E. 2005. A simple, bead-based approach for multi-SNP molecular haplotyping [J]. Nucl Acids Res, 32(22): e186
    Hurskainen T L, Hirohata S, Seldin M F, Apte S S. 1999. ADAMTS5, ADAM-TS6, and ADAM-TS7, novel members of a new family of zinc metalloproteases. General features and genomic distribution of the ADAM-TSfamily [J]. J Biolo Chem, 274: 25555~25563
    Huxley-Jones J, Apte S S, Robertson D L, Boot-Handford R P. 2005. The characterisation of sixADAMTS proteases in the basal chordate Ciona intestinalis provides new insights into the vertebrate ADAMTS family [J]. Int. J. Biochem. J Cell Biology, 37: 1838~1845
    Hyman E D. 1988. A new method of sequencing DNA [J]. Anal Biochem, 174: 423~436
    Ilva J E and Rabelo R. 1997. Regulation of the Uncoupling Protein gene Expression [J]. Eur J Endocrinol, 136(3): 251~264
    Imabayashi H, Mori T, Gojo S, Kiyono T, Sugiyama T, Irie R, Isogai T, Hata J I, Toyama Y, Umezawa A. 2003. Redifferentiation of dedifferentiated chondrocytes and chondrogenesis of human bone marrow stromal cells via chondrosphere formation with expression profiling by large-scale cDNA analysis [J]. Exp. Cell Res, 288: 35~50
    Imyanitov E N, Buslov K G, Suspitsin E N, Kuligina E S, Belogubova E V, Grigoriev M Y, Togo A V, Hanson K P. 2002. Improved reliability of allele-specific PCR [J]. Biotechniques, 33: 484~490
    Jaremko M, Justenhoven C, Abraham B K, Schroth W, Fritz P, Brod S, Vollmert C, Illig T, Brauch H. 2005. MALDI-TOF MS and TaqMan assisted SNP genotyping of DNA isolated from formalin-fixed and paraffin-embedded tissues (FFPET) [J]. Hum Mutat, 25(3): 232~238
    Jezek P, Urbankova E. 2000. Specific sequence of motifs of mitochondrial uncoupling proteins[J]. IUBMB Life, 49: 63~70
    Jobs M, Howell W M, Strmqvist L, Mayr T, Brookes A J. 2003. DASH-2: Flexible, low-cost, and high- throughput SNP genotyping by dynamic allele-specific hybridization on membrane arrays [J]. Genome Res, 13 (5): 916~924
    Johnson C D, Esquela-Kerscher A, Stefani G, Byrom M, Kelnar K, Ovcharenko D, Wilson M, Slack F J. 2007. The let-7 microRNA represses cell proliferation pathways in human cells [J]. Cancer Res, 67: 7713~7722
    Juppner H. 2000. Role of parathyroid hormone-related peptide and Indian hedgehog in skeletal development [J]. Pediatr Nephrol, 14: 606~611
    Jura N, Archer H, Bar-Sagi D. 2005. Chronic Pancreatitis, Pancreatic adenocarcinoma and the black box in-between [J]. Cell Res, 15(1): 72~77
    Kaller M, Tuominen R, Ahmadian A, Magnusson V, Egyhazi S, Hansson J, Lundeberg J. 2005. Detection of MC1R polymorphisms with protease-mediated allele- specific extension as an alternative to direct sequencing [J]. Clin Chem, 51: 2388~2391
    Karhadkar S S, Bova G S, Abdallah N, Dhara S, Gardner D, Maitra A, Isaacs J T, Berman D M, Beachy PA. 2004. Hedgehog signaling in prostate regeneration, neoplasia and metastasis [J]. Nature, 431: 707~712
    Kawahira H, Ma N H, Tzanakakis E S ,McMahon A P, Chuang P T , Hebrok M. 2003. Combined activities of hedgehog signaling inhibitors regulate pancreas development [J]. Development, 130:4871~4879
    Kayed H, Kleeff J, Keleg S, Guo J, Ketterer K, Berberat P O, Giese N, Esposito I, Giese T, Büchler M W, Friess H. 2004. Indian hedgehog signaling pat hway: expression and regulation in pancreatic cancer [J]. Int J Cancer, 110: 668~676
    Kellgren J H, Moore R. 1952. Generalized osteoarthritis and Heberden’s nodes [J]. Br Med J, 1: 181~187
    Khalid K, Alharbi, Mohammed A, Aldahmesh, Emmanuel Spanakis, Lema Haddad, Roslyn A.Whittall, Xiao-he Chen, Hamid Rassoulian, Matt J. Smith, Julie Sillibourne, Nicola J. Ball, Nikki J, Graham, Patricia J, Briggs, Iain A, Simpson, David I W, Phillips, Deborah A, Lawlor, Shu Ye, Stephen E, Humphries, Cyrus Cooper, George Davey Smith, Shah Ebrahim, Diana M, Eccles, and Ian N M, Day. 2005. Mutation scanning by melt MADGE: Validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population [J]. Genome Res, 15(7): 967~977
    Kiefer H, Hermitte F C, Ravassard P, Bayard E, Brunet I, Mallet J. 2005. ZENON, a novel POZ Kruppel-like DNA binding protein associated with differentiation and/or survival of late postmitotic neurons [J]. Mol. Cell Biol, 25: 1713~1729
    Kim T H, Barrera L O, Qu C, Van Calcar S, Trinklein N D, Cooper S J, Luna R M, Glass C K, Rosenfeld M G, Myers R M, Ren B. 2005. Direct isolation and identification of promoters in the human genome [J]. Genome Res, 15: 830-839
    Kohrt D M, Crary J I, Gocheva V, Hinds P W, Grossel M J. 2009. Distinct subcellular distribution of cyclin dependent kinase 6 [J]. Cell Cycle,8: 2837~2843
    Koizumia M, Morita K, Takagi M, Yasumo H, Kasuya A. 2005. Improvement of single nucleotide polymorphism genotyping by allele-specific PCR using primers modified with an ENA residue [J]. Anal Biochem, 340(2): 287~294
    Kojima M, Hosoda H, Date Y, Nakazato M, Matsuo H, Kangawa K. 1999. Ghrelin is Growth hormone releasing Acylated from Stomach [J]. Nature, 402: 656~660
    Kokoris M, Dix K, Moynihan K, Mathis J, Erwin B, Grass P, Hines B, Duesterhoeft A. 2000. High-throughput SNP genotyping with the masscode system [J]. Molecular Diagnosis, 5(4): 329~340
    Konieczny A, Ausubel F M. 1993. A procedure for mapping Arabidopsis mutations using co-dominant ecotype- specific markers [J]. Plant J, 4(2): 403~410
    Konishi S, Izawa T, Lin S Y, Ebana K, Fukuta Y, Sasaki T, Yano M. 2006. An SNP caused loss of seed shattering during rice domestication [J]. Science, 312 (5778): 1392~1396
    Koo B H, Hurskainen T, Mielke K, Aung P P, Casey G, Autio-Harmainen H, Apte S S. 2007.
    ADAMTSL3/punctin-2, a gene frequently mutated in colorectal tumors, is widely expressed in normal and malignant epithelial cells, vascular endothelial cells and other cell types, and its mRNA is reduced in colon cancer [J]. International J Cancer, 121: 1710~1716.
    Kozlowski P, Krzyzosiak W J. 2001. Combined SSCP/duplex analysis by capillary electrophoresis for more efficient mutation detection [J]. Nucl Acids Res, 29(14): e71~71
    Kraft P, Peltonen L, Salomaa V, Schlessinger D, Hunter D J, Hayes R B, Abecasis G R, Wichmann H E, Mohlke K L, Hirschhorn J N. 2008. Identification of ten loci associated with height highlights new biological pathways in human growth [J]. Nat Genet, 40
    Kuno K, Kanada N, Nakashima E, Fujiki F, Ichimura F, Matsushima K. 1997. Molecular cloning of a gene encoding a new type of metalloproteinase-disintegrin family protein with thrombospondin motifs as an inflammation associated gene [J]. Journal Biolo Chem, 272: 556~562
    Kwok S, Kellogg D E, McKinney N, Spasic D, Goda L, Levenson C, Sninsky J J. 1990. Effects of primer-template mismatches on the polymerase chain reaction: human immunodeficiency virus type 1 model studies [J]. Nucleic Acids Res, 18(4): 999~1005
    Laman H, Funes J M, Ye H, Henderson S, Galinanes-Garcia L, Eiji Hara E, Knowles P, McDonald NQ, Boshoff C. 2005. Transforming activity of Fbxo7 is mediated specifically through regulation of cyclin D/cdk6 EMBO [J]. Journal, 24: 3104~3116
    Landegren U, Kaiser R, Sanders J, Hood L. 1988. A ligase-mediated gene detection technique [J]. Science, 241(4869): 1077~1080
    Lei S F, Deng F Y, Liu X H, Huang Q R, Qin Y J, Zhou Q, Jinag D K, Li Y M, Mo X Y, Liu M Y, Chen X D, Wu X S, Shen H, Dvornyk V, Zhao L J, Reeker R R, DengH W. 2003. Polymorphisms of four bone mineral density candidate genes in Chinese populations and comparison with other Populations of different ethnicity [J]. J Bone Miner Metab, 21: 34~42
    Lettre G A, Jackson A U, Gieger C, Schumacher F R, Berndt S I, Sanna S, Eyheramendy S, Voight B F, Butler J L, Guiducci C, Illig T, Hackett R, Heid IM, Jacobs K B, Lyssenko V, Uda M, Boehnke M, Chanock S J, Groop L C, Hu FB, Isomaa B, Kraft P, Peltonen L, Salomaa V, Schlessinger D, Hunter D J, Hayes R B, Abecasis G R, Wichmann H E, Mohlke K L, Hirschhorn J N. 2008. Identification of ten loci associated with height highlights new biological pathways in human growth [J]. Nat Genet, 40: 584~591
    Liden M, Wilen B, Ljunghall S, Melhus H. 1998. Polymorphism at the Sp 1 binding site in the collagen type I alpha 1 gene does not Predict bone mineral density in postmenopausal women in Sweden [J]. Caleif Tissue Int, 63: 293~295
    Li J, Chu X, Liu Y L, Jiang J H, He Z M, Zhang Z W, Shen G L, Yu R Q. 2005. A colorimetric method for point mutation detection using high- fidelity DNA ligase [J]. Nucl Acids Res, 33(19): e168
    Lim J T E, Mansukhani M, Weinstein I B. 2005. Cyclin-dependent kinase 6 associates with the androgen receptor and enhances its transcriptional activity in prostate cancer cells [J]. PNAS, 102(14): 5156~5161
    Lipsky R H, Mazzanti C M, Rudolph J G, Xu K, Vyas G, Bozak D, Radel M Q, Goldman D. 2001. DNA melting analysis for detection of single nucleotide polymorphisms [J]. Clin Chem, 47: 635~644
    Li Q, Zhaowei Liu Z, Monroe H, Culiat C T. 2002. Integrated platform for detection of DNA sequence variants using capillary array electrophoresis [J]. Electrophoresis, 23(10): 1499~1511
    Liu Q, Thorland E C, Heit J A, Sommer S S. 1997. Overlapping PCR for bidirectional PCR amplification of specific alleles: a rapid one- tube method for simultaneously differentiating homozygotes and heterozygotes[J]. Genome Res, 7: 389~398
    Llave C, Xie Z, Kasschau K D. 2002. Cleavage of Scarecrow-like mRNA targets directed by a class of Arabidopsis miRNA [J]. Science, 297 (5589): 2053~2056
    Loots G G, Locksley R M, Blankespoor C M, Wang Z E, Miller W, Rubin E M, Frazer K A. 2000. Identification of a coordinate regulator of interleukins 4, 13 and 5 by cross-species sequence comparisons [J]. Science, 288 (5463): 136~140
    Lucarelli P, Gloria-Bottini F, Antonacci E, Borgiani P, Palmarino R, Bottini E. 2000. A study of human growth hormone and insulin gene regions in relation to metabolic control of non-insulin-dependent diabetes mellitus [J]. Metabolism, 49 ( 4): 424~426
    Lujambio A, Ropero S, Ballestar E, Fraga M F, Cerrato C, Setien F, Casado S, Suarez-Gauthier A, Sanchez-Cespedes M, Gitt A., Spiteri I, Das P P, Caldas C, Miska E, Esteller M. 2007 Genetic unmasking of an epigenetically silenced microRNA in human cancer cells [J]. Cancer Res. 67, 1424~1429
    Lund A M, Skovby F, Schwartz M. 1997. Serine for glycine substitutions in the Cterminal third of the alpha1 (I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta [J]. Hum Mutat, 9:378~382
    Luyten F P. 1997. Cartilage-derived morphogenetic protein-1 [J]. Int. J. Biochem. Cell Biol, 29: 1241~1244
    Lyamichev V, BrowM A, Dahlberg J E. 1993. Structure- specific endonucleolytic cleavage of nucleic acids by eubacterial DNA polymerases [J]. Science, 260(5109): 778~783
    Lyamichev V, Mast A L, Hall J G, et al. 1999. Polymorphism identification and quantitative detection of genomic DNA by invasive cleavage of oligonucleotide probes [J]. Nature Biotechnol, 17(3): 292-296
    Macdonald S J, Pastinen T, Genissel A, Cornforth T W, Long A D. 2005. Alow-cost open-source SNP genotyping platformfor association mapping applications [J]. Genome Biol, 6(12): R105
    Maeda T, Hobbs RM, Pandolfi PP. 2005. The transcription factor Pokemon: A new key player in cancer pathogenesis [J]. Cancer Res, 65(19): 8575~8578
    Malumbres M, Sotillo R, Santamaria D, Galan J, Cerezo A, Ortega A, Dubus P, Barbacid M. 2004.
    Mammalian cells cycle without the D-type cyclin-dependent kinases Cdk4 and Cdk6 [J]. Cell, 118: 493~504
    Malven P V, Head H H, Collier R J, Buonomo F C. 1987. PeriParturient changes in seeretion and mammary uptake of insulin and in coneentrations of insulin and insulin-like growth factors in milk daily cows [J]. J Dairy Sci, 70: 2250~2265
    Manen D, Palmer G, Bonjour J P, Rizzoli R. 2000. Positive and negative control of the expression of Parathyroid hormone (PTH)/PTH-related protein receptor via proximal promoter P3 in human osteoblast-like cells [J]. J Clin Endocr Metab, 85: 3376~3382
    Margulies M, Egholm M, Altman W E, Attiya S, Bader J S, Bemben L A, Berka J, Braverman M S, Chen Y J, Chen Z, Dewell S B, Du L, Fierro J M, Gomes X V, Godwin B C, He W, Helgesen S, Ho C H, Irzyk G P, Jando S C, Alenquer M L, Jarvie T P, Jirage K B, Kim J B, Knight J R, Lanza J R, Leamon J H, Lefkowitz S M, Lei M, Li J, Lohman K L, Lu H, Makhijani V B, McDade K E, McKenna M P, Myers E W,
    Nickerson E, Nobile J R, Plant R, Puc B P, Ronan M T, Roth G T, Sarkis G J, Simons J F, Simpson J W, Srinivasan M, Tartaro K R, Tomasz A, Vogt K A, Volkmer G A, Wang S H, Wang Y, Weiner M P, Yu P, Begley R F, Rothberg J M. 2005. Genome sequencing in microfabricated high-density picolitre reactors [J]. Nature, 437: 376~380
    Marotta C A, Wilson J T, Forget B G, Weissman S M. 1977. Human beta- globin messenger RNA. III. Nucleotide sequences derived from complementary DNA [J]. J Biol Chem, 252: 5040~5053
    Martha L B. 2003. Computational prediction of transcription factor binding site locations [J]. Genome Biology, 5: 201~212
    Marti A, Larrarte E, Novo F J, Garcia M, Martinez J A. 2001. UCP2 muscle gene transfer modifies mitochondrial membrane potential [J] . Int J Obes Relat Metab Disord, 25 (1): 68~74
    Martin S T, Sato N, Dhara S, Chang R, Hustinx S R, Abe T, Maitra A, Goggins M. 2005. Aberrant Met hylation of t he Human hedgehog interacting protein (HHIP) gene in pancreatic neoplasms [J]. Cancer Biol Ther, 4: 728~733
    Mashal R D, Koontz J, Sklar J. 1995. Detection of mutations by cleavage of DNA heteroduplexes with bacteriophage resolvases [J]. Nature Genet, 9(2): 177~183
    Masuya H, Nishida K, Furuichi T, Toki H, Nishimura G, Kawabata H, Yokoyama H, Yoshida A, Tominaga S, Nagano J. 2007. A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesisimpairs joint formation and causes osteoarthritis in mice [J]. Hum Mol Genet, 16: 2366~2375
    Mateescu RG, Zhang Z, Tsai K, Phavaphutanon J, Burton-wurster N I, Quaas R, Murphy K, Acland G M, Todhunter R J. 2005. Analysis of allele fidelity, polymorphic information content, and density of microsatellites in a genome-wide screening for hip dysplasia in a crossbreed pedigree [J]. J Here, 96: 847~853
    Matsuzaki H, Loi H, Shoulian Dong S, Tsai YY, Fang J, Law J, Di X, Liu W M, Yang G, Liu G, Huang J, Kennedy G C, Ryder TB, Marcus G A, Walsh P S, Shriver M D, Puck J M, Jones K W, Mei R. 2004. Parallel genotyping of over 10 000 SNPs using a one-primer assay on a highdensity oligonucleotide array [J]. Genome Res, 14: 414~425
    Matushansky I, Radparvar F, Skoultchi A I. 2003. CDK6 blocks differentiation: coupling cell proliferation to the block to differentiation in leukemic cells [J]. Oncogene ,22:4143-4149
    McCallum C M, Comai L, Greene E A, Henikoff S. 2000. Targeting Induced Local Lesions IN Genomes (TILLING) for plant functional genomics [J]. Plant Physiol, 123: 439~442
    Melnick A, Ahmad K F, Arai S, Polinger A, Ball H, Borden K L, Carlile G W, Prive G G, Licht J D. 2000. In depth mutational analysis of the promyelocytic leukemia zinc finger BTB/POZ domain reveals motifs and residues required for biological and transcriptional functions[J]. Mol Cell Biol, 20: 6550~6567
    Merinoa R, Maciasb D, Ga?anb Y, Economidesc A N, Wangc X, Wuc Q, Stahlc N, Sampathd K T, Varonaa P, Hurlea J M. 1999. Expression and function of Gdf-5 during digit skeletogenesis in the embryonic chick leg bud [J]. Dev. Biol, 206: 33~45
    Meyerson M, Harlow E. 1994. Identification of G1 kinase activity for Cdk6, a novel cyclin D partner [J]. Mol Cell Biol, 14: 2077~2086
    Mhlanga M M, Malmberg L. 2001. Using molecular beacons to detect single- nucleotide polymorphisms with real- time PCR [J]. Methods, 25: 463~471
    Mikic B. 2004. Multiple effects of GDF5 deficiency on skeletal tissues, implications for therapeutic bioengineering [J]. An. Biomed Eng, 32: 466~476
    Minagawa M, Watanabe T, Kohno Y, Mochizuki H, Hendy G N, Goltzman D, White J H, Yasuda T. 2001. Analysis of the P3 promoter of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene in pseudohypoparathyroidism type1b [J]. J Clin Endocrinol Metab, 86: 1394~1397
    Minagawa M, Yasuda T, Watanabe T, Minmaitani K, Takahashi Y, Goltzman D, White JH, Hendy GN, Kohno Y. 2002. Association between AAAG repeat polymorphism in the P3 Promoter of the human parathyroid homorne (PTH)/PTH-related peptide receptor gene and adult height, urinary pyridinoline exeretion, and promoter activity [J]. J Clin Endocrinol Metab, 87: 1791~1796
    Mitchell R J, Earl L, Fricke B. 1997. Y-chromosome specific alleles and haplotypes in European and Asian populations: linkage disequilibrium and geographic diversity [J]. Am J Phys Anthropol, 104(2): 167~176
    Miyamoto Y, Mabuchil A, Shi DQ, Kubo T, Takatori Y, Saito S, Fujioka M, Sudo A, Uchida A, Yamamoto S, Ozaki K, Takigawa M, Tanaka T, Nakamura Y, Jiang Q, Ikegawa S. 2007. A functional polymorphism in the 5’UTR of GDF5 is associated with susceptibility to osteoarthritis [J]. Nat. Genet, 39: 529~533
    Miyashita A, Crystal RG, Hay J G. 1995. Identification of a 27 bp 5'-flanking region element responsible for the low level constitutive expression of the human cytosolic phospholipase A2 gene [J].Nucleic Acids Research, 23: 293~301
    Moog F, Goellner J J. 1982. Chick embryo intestine in culture: influence of insulin and other hormones on sucrase, maltase, and alkaline phosphatase [J]. J Pediatr Gasrroenrerol Nutr, l: 401~410
    Myakishev M V, Khripin Y, Hu S, Hamer D H. 2001. High-throughput SNP genotyping by allele-specific PCR with universal energy-transferlabeled primers [J]. Genome Res, 11(1): 163~169
    Myers R M, Fischer S G, Lerman L S, Maniatis T. 1985. Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis [J]. Nucl Acids Res, 13(9): 3131~3145
    Myers R M, Larin Z, Maniatis T. 1985. Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes [J]. Science, 230(4731): 1242~1246
    Nafa K, Bessler M, Mason P, Vulliamy T, Hillmen P, Castro-Malaspina H, Luzzatto L. 1996. Factor V leiden mutation investigated by amplification created restriction enzyme site (ACRES) in PNH patients with and without thrombosis [J]. Haematologica, 1: 540~542
    Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O. 1998. Prediction of the coding sequences of unidentified human genes IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro [J]. DNA Res, 5: 31~39
    Nasis O, Thompson S, Hong T, Sherwood M, Radcliffe S, Jackson L, Otevrel T. 2004. Improvement in sensitivity of allele-specific PCR facilitates reliable noninvasive prenatal detection of cystic fibrosis [J]. Clinical Chem. 50: 694~701
    Naylor L H, Clark E M. 1990. d(TG)n.d(CA)n sequences upstream of the rat prolactin gene form Z-DNA and inhibit gene transcription [J]. Nucleic Acids Research, 18: 1595~1601
    Neff M M, Neff J D, Chory J, Pepper A E. 1998. dCAPS, a simple technique for the genetic analysis of single nucleotide polymorphisms: experimental applications in Arabidopsis thaliana genetics [J]. Plant J, 14(3): 387~392
    Newton C R, Graham A, Heptinstall L E, Powell S J, Summers C, Kalsheker N, Smith J C, Markham A F. 1989. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS) [J]. Nucl Acids Res,17(7): 2503~2516
    Nickel J, Kotzsch A, Sebald W, Mueller T D. 2005. A single residue of GDF5 defines binding specificity to BMP receptor IB [J]. J Mol Biol, 349: 933~947
    Nickerson D A, Kaiser R, Lappin S, Stewart J, Hood L, Landegren U. 1990. Automated DNA diagnostics using an ELISA-based oligonucleotide litigate assay [J]. PNAS, 87: 8923~8927
    Nikiforov T T, Rendle R B, Goelet P, Rogers Y H, Kotewicz M L, Anderson S, Trainor G L, Knapp M R. 1994. Genetic bit analysis: A solid phase method for typing single nucleotide polymorphisms [J]. Nucl Acids Res, 22(20): 4167~4175
    Nilsson M, Malmgren H, Samiotaki M, Kwiatkowski M, Chowdhary B P, Landegren U. 1994. Padlock probes: Circularizing oligonucleotides for localized DNA detection [J]. Science, 265(5181): 2085~2088
    Nordfors L, Jansson M, Sandberg G, Lavebratt C, Sengul S, Schalling M, Arner P. 2002. Large-scale genotyping of single nucleotide polymorphisms by PyrosequencingTM and validation against the 5’nuclease (Taqman) assay [J]. Hum Mut, 19 (4): 395~401
    Ogasawara S, Fujimoto K. 2006. SNP genotyping by using photochemical ligation [J]. Angew Chem,118: 4624 ~4627
    Ogasawara T, Katagiri M, Yamamoto A, Hoshi K, Takato T, Nakamura K, Tanaka S, Okayama H, Kawaguchi H. 2004a. Osteoclast differentiation by RANKL requires NFkappaB-mediated downregulation of cyclin-dependent kinase 6 (Cdk6) [J]. J Bone Miner Res, 19, 1128~1136
    Ogasawara T, Kawaguchi H, Jinno S, Hoshi K, Itaka K, Takato T, Nakamura K. and Okayama H. 2004b. Bone morphogenetic protein 2-induced osteoblast differentiation requires Smad-mediated down-regulation of Cdk6 [J]. Mol Cell Biol ,24, 6560~6568
    Okamoto A, Tainaka K, Ochi Y, Kanatani K, Saito I. 2006. Simple SNP typing assay using a base-discriminating fluorescent probe [J]. Mol BioSys, 2: 122~127.
    Okayama H, Curiel D T, Brantly M L, Holmes M D, Crystal RG. 1989. Rapid nonradioactive detection of mutations in the human genome by allele-specific amplification [J]. J Lab Clin Med, 114: 105~113
    Oleykowski C A, Bronson Mullins C R, Godwin A K, Yeung A T. 1998. Mutation detection using a novel plant endonuclease [J]. Nucl Acids Res, 26(20): 4597~4602
    Oliveria S A, Felson D T, Reed J I, Cirillo P A, Walker A M. 1995. Ncidence of symptomatic hand, hip, and knee osteoarthritis among patients in a health maintenance organization [J]. Arthritis Rheum, 38: 1134~1141
    O’Meara D, Ahmadian A, Odeberg J, Lundeberg J. 2002. SNP typing by apyrase-mediated allele-specific primer extension on DNA microarrays [J]. Nucl Acids Res, 30(15): e75
    Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. 1989. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms [J]. PNAS, 86 (8): 2766~2770
    Oubrahim H, Wang J, Stadtman E R, Chock P B. 2005. Molecular cloning and charaeterization of murine caspase-12 gene promoter [J]. PANS, 102: 2322~2327
    Pastinen T, Raitio M, Lindroos K, Tainola P, Peltonen L, Syv?nen A C. 2000. A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays [J]. Genome Res, 10(7): 1031~1042
    Patel J H,McMahon S B. 2006. Targeting of Miz　1 Is Essential for Myc　mediated Apoptosis [J]. J Biol Chem, 281(6): 3283~3289
    Patil M A , Zhang J , Ho C , Cheung S T , Fan S T , Chen X. 2006. Hedgehog signaling in human hepatocellular carcinoma [J]. Cancer Biol Ther, 5:111~117
    Peng Y, Chen F, Melamed J, Chiriboga L, Wei J, Kong X, McLeod M, Li Y, Li C X, Feng A, Garabedian M J, Wang Z, Roeder R G, Lee P. 2008. Distinct nuclear and cytoplasmic functions of androgen receptor cofactor p44 and association with androgen-independent prostate cancer [J]. PNAS, 105: 5236~5241
    Pepe G, Rickards O, BuéC, Martinez-Labarga C, Tartaglia M, De Stefano GF. 1994. EcoRI, RsaI, and MspI RFLPs of the COL1A2 gene (Type I collagen) in the Cayapa, a Native American population of Ecuador [J]. Hum Biol, 66: 979~989
    Peyret N, Seneviratne A, Allawi H T, SantaLucia J Jr. 1999. Nearest- neighbor thermodynamics and NMR of DNA sequences with internal A?A, C?C, G?G, and T?T mismatches [J]. Biochemistry, 38: 3468~3477
    Phillips C L, Bradley D A, Schlotzhauer C L, Bergfeld M, Libreros Minotta C, Gawenis L R, Morris JS, Clarke L L, Hillman L S. 2000. Oim mice exhibit altered femur and incisor mineral composition and decreased bone mineral density [J]. Bone, 27:219~226
    Pickering J, Bamford A, Godbole V, Briggs J, Scozzafava G, Roe P, Wheeler C, Ghouze F, Cuss S. 2002. Integration of DNA ligation and rolling circle amplification for the homogeneous, end-point detection of single nucleotide polymorphisms [J]. Nucl Acids Res, 30 (12): e60
    Pinte S, Stankovic　Valentin N, Deltour S, Rood B R, Guérardel C, Leprince D.2004. The tumor suppressor gene HIC1 (hypermethylated in cancer 1) is a sequence　specific transcriptional repressor: definition of its consensus binding sequence and analysis of its DNA　binding and repressive properties [J]. J Biol Chem, 279(37): 38313~38324
    Pont-Kingdon G, Lyon E. 2005. Direct molecular haplotyping by melting curve analysis of hybridization probes: beta 2-adrenergic receptor haplotypes as an example [J]. Nucl Acids Res, 33(10): e89 Porter S, Clark I M, Kevorkian L, Edwards D R. 2005. The ADAMTS metalloproteinases [J]. Biochem J, 386: 15~27
    Puffenberger E G, Kauffman E R, Bolk S, Matise T C, Washington S S, Angrist M, Weissenbach J, Garver K L, Mascari M, Ladda R, A.Siaugenhaupt S, Chakravarti A. 1994. Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22 [J]. Hum Mol Genet, 3(8): 1217~1225
    Pugliese A, Zeller M, Fernandez A Jr, Zalcberg L J, Bartlett R J, Ricordi C, Pietropaolo M, Eisenbarth G S, Bennett S T, Patel D D. 1997. The insulin gene is transcribed in the human thymus and transcription levels correlate with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes [J]. Nature Genetics, 15: 293~297
    Purushothaman S, Toumazou C, Ou C P. 2006. Protons and single nucleotide polymorphismdetection: Asimple use for the ion sensitive field effect transistor [J]. Sens Act B: Chem, 114(2): 964~968 Qin W, He J X, Shi J, Xing Q H, Gao J J, He L, Qian X Q, Liu Z J, Shu A L, He L. 2005. Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta [J]. Acta Genetica Sinica, 32: 248~252
    Rafalski A. 2002. Applications of single nucleotide polymorphisms in crop genetics [J]. Curr Opin Plant Biol, 5: 94~100
    Ranade K, Chang M S, Ting C T, Pei D, Hsiao C F, Olivier M, Pesich R, Hebert J, Chen Y D I, Dzau V J, Curb D, Olshen R, Risch N, Cox D R, Botstein D.2001. High-throughput genotyping with single nucleotide polymorphisms [J]. Genome Res, 11(7): 1262~1268
    Rauch F , Glorieux F H. 2004. Osteogenesis imperfecta [J]. Lancet, 363:1377~1385
    Read L C, Upton F M, Francis G L, Wallace J C, Dahlenberg G W, Ballard F J. 1984. Changes in the growth-Promoting activity of human milk during lactation [J]. Pediatr Res, 18:133~138
    Reich D E, Schaffner S F, Daly M J, McVean G, Mullikin J C, Higgins J M, Richter D J, Lander E S, Altshuler D. 2002. Human genome sequence variation and the influence of gene history, mutation and recombination [J]. Nature Genet, 32(1): 135~142
    Remenyi A, Scholer H R, Wilmanns M. 2004. Combinatorial control of gene expression [J]. Nat Struct Mol Biol, 11(9): 812~815
    Ren J. 2000. High-throughput single-strand conformation polymorphism analysis by capillary electrophoresis [J]. J Chromatography B: Biomedical Sci Appl, 741(2): 115~128
    Richman R A, Claus T H, Pilkis S J, Friedman D L. 1976. Hormonal stimulation of DNA synthesis in Primary cultures of adult rat hePatocytes [J]. PNAS, 73: 3589~3593
    Ricqier C, Bouillaud F. 2000. The uncoupling protein homologues: UCP1, UCP2, UCP3, StUCP and AtUCP [J]. BiochemJ, 345:161~179
    Roberts E, Deeble V J, Woods C G, Taylor G R. 1997. Potassium permanganate and tetraethylammonium chloride are a safe and effective substitute for osmium tetroxide in solid- phase fluorescent chemical cleavage of mismatch [J]. Nucl Acids Res, 25(16): 3377~3378
    Roest P AM, Roberts R G, Sugino S, van Ommen G J, den Dunnen J T. 1993. Protein truncation test (PTT) for rapid detection of translation-terminating mutations [J]. HumMol Genet, 2(10): 1719~1721
    Rosenbaum V, Riesner D. 1987. Temperature- gradient gel electrophoresis. Thermodynamic analysis of nucleic acids and proteins in purified form and in cellular extracts [J]. Biophys Chem, 26(2-3): 235~246
    Rowell E A, Wells A D. 2006. The role of cyclin-dependent kinases in T-cell development, proliferation, and function [J]. Crit. Rev. Immunol, 26: 189~212
    Rozycka M, Collins N, Stratton M R, Wooster R. 2000. Rapid detection of DNA sequence variants by conformation-sensitive capillary electrophoresis [J]. Genomics, 70: 34~40
    Sadanand Gite S, Lim M, Carlson R, Olejnik J, Zehnbauer B, Rothschild K. 2003. A high-throughput nonisotopic protein truncation test [J]. Nature Biotechnol, 21(2): 194~197
    Saiki R K, Bugawan T L, Horn G T, Mullis K B, Erlich H A. 1986. Analysis of enzymatically amplifiedβ-globin and HLA-DQαDNA with allele-specific oligonucleotide probes [J]. Nature, 324: 163~166
    Saiki R K,Walsh P S, Levenson C H, Erlich H A. 1989. Genetic analysis of amplified DNAwith immobilized sequence- specific oligonucleotide probes [J]. PNAS, 86: 6230~6234
    Salter J, Best C H. 1953. Insulin as a growth hormone [J].Br Med J, 2:353~356
    Samec S, Seydoux J, Dulloo A G. 1999. Post-starvation gene expression of skeletal muscle uncoupling protein 2 and uncoupling protein 3 in response to dietary fat levels and fatty acid composition:a link with wnsulin resistance [J]. Diabetes, 48(2): 436~441
    Sanna S, Jackson A U, Nagaraja R, Willer C J, Chen W M, Bonnycastle L L, Shen H Q, Timpson N, Lettre G, Usala G, Chines P S, Stringham H M, Scott L J, Dei M, Lai S, Albai G, Crisponi L, Naitza S, Doheny K F, Pugh E W, Shlomo Y B, Ebrahim S, Lawlor D A, Bergman R N, Watanabe R M, Uda M, Tuomilehto J, Coresh J, Hirschhorn J N, Shuldiner A R, Schlessinger D, Collins F S, Smith G D, Boerwinkle E, Cao A, Boehnke M, Abecasis GR, Mohlke KL. 2008. Common variants in the GDF5-UQCC region are associated with variation in human height [J]. Nat Genet, 40: 198~203
    Santovito A, Burgarello C, Cervella P, Caravatti G A, Ouattara M, Salvarani B, Delpero M. 2009. COL1A2 gene deletion polymorphism in an Italian and an Ivorian populations [J]. Russian Journal of Genetics, 45: 857~860
    Sasai N, Matsuda E, Sarashina E, Ishida Y, Kawaichi M. 2005. Identification of a novel BTB-zinc finger transcriptional repressor, CIBZ, that interacts with CtBP corepressor [J]. Genes Cells, 10: 871~885
    Sato K, Hosokawa K,MaedaM. 2005. Non-cross-linking gold nanoparticle aggregation as a detection method for single- base substitutions [J]. Nucl Acids Res, 33(1): e4
    Sauer S, Lechner D, Berlin K, Lehrach H, Escary J L, Fox N, Gut I G. 2000a. A novel procedure for efficient genotyping of single nucleotide polymorphisms [J]. Nucl Acids Res, 28(5): e13
    Sauer S, Lechner D, Berlin K, Plancon C, Heuermann A, Lehrach H, Gut I G. 2000b. Full flexibility genotyping of single nucleotide polymorphisms by the GOOD assay [J]. Nucl Acids Res, 28(23): e100
    Sauer S. 2006. Typing of single nucleotide polymorphisms by MALDI mass spectrometry: Principles and diagnostic applications [J]. Clin Chim Acta, 363(1-2): 95~105
    Siebert PD, Chenchik A, Kellogg D E, Lukyanov K A, Lukyanov S A. 1995. An improved method for walking inuncloned genomic DNA [J]. Nucleic Acids Res, 23: 1087~1088
    Silber J, Lim D A, Petritsch C, Persson A I, Maunakea A K, Yu M, Vandenberg S R, Ginzinger D G, James C D, Costello J F, Bergers G, Weiss W A, Alvarez-Buylla A, Hodgson J G. 2008. miR-124 and miR-137 inhibit proliferation of glioblastoma multiforme cells and induce differentiation of brain tumor stem cells [J]. BMC Med, 6:14
    Simank H G, Manggold J. 2001. Bone morphogenetic protein-2 and growth and differentiation factor-5 enhance the healing of necrotic bone in a sheep model [J]. Growth Factors, 19 (4): 247~2571
    Smith MJ, Pante-de-Sousa G, Alharbi K K, Chen X, Day I N M, Fox K R. 2005. Combination of His-tagged T4 endonuclease VII with microplate array diagonal gel electrophoresis for high- throughput mutation scanning [J]. Clin Chem, 51(6): 1043~1046
    Sokolov B P, Dzemelinski V V, Kalinin V N. 1991. Restriction fragment length polymorphisms of three collagen genes in Russians and Byrats [J]. Hum Hered, 41: 57~60
    Solinas A, Brown L J, McKeen C, Mellor J M, Nicol J, Thelwell N, Brown T. 2001. Duplex scorpion primers in SNP analysis and FRET applications [J]. Nucl Acids Res, 29(20): e96.
    Sommer S S, Cassady J D, Sobell J L, Bottema C D. 1989. A novel method for detecting point mutations or polymorphisms and its application to population screening for carriers of phenylketonuria [J]. Mayo Clin Proc, 64: 1361~1372
    Soranzo N, Rivadeneira F, Chinappen-Horsley U, Malkina I, Richards J B, Hammond N, Stolk L, Nica A, Inouye M, Hofman A, Stephens J, Wheeler E, Arp P, Gwilliam R, Jhamai P M, Potter S, Chaney A, Ghori M J, Ravindrarajah R, Ermakov S, Estrada K, Pols H A, Williams F M, McArdle W L, van Meurs J B, Loos R J, Dermitzakis E T, Ahmadi K R, Hart D J, Ouwehand W H, Wareham N J, Barroso I, Sandhu M
    S, Strachan D P, Livshits G, Spector T D, Uitterlinden A G, Deloukas P. 2009. Meta-analysis of genome-wide scans for human adult stature identifies novel loci and associations with measures of skeletal frame size [J]. PLoS Genetics, 5:e1000445
    Southam L, Rodriguez-lopez J, Wilkins J M, Pombo-suarez M, Snelling S, Gomez-reino J J, Charpman K, Gonzalez A, Loughlin J. 2007. An SNP in the 5￠-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage [J]. Hum Mol Genet, 16: 2226~2232
    Sovio U, Bennett A J, Millwood IY, Molitor J, O'Reilly P F, Timpson N J, Kaakinen M, Laitinen, J, Haukka J, Pillas D, Tzoulaki I, Molitor J, Hoggart C, Coin LJ, Whittaker J, Pouta A, Hartikainen A L, Freime N B, Widen E, Peltonen L, Elliott P, McCarthy M I, Jarvelin M R. 2009. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern finland birth cohort [J]. PLoS Genet, 5: e1000409
    Spiro R C , Liu L S, Heidaran M A, Thompson A Y, Ng C K, Pohl J, Poser J W. 2000. Inductive activity of recombinant human growth and differentiation factor25 [J]. Biochem Soc Trans, 28 (4) :362~3281
    Steemers F J, Chang W, Lee G, Barker D L, Shen R, Gunderson K L. 2006. Whole-genome genotyping with the single- base extension assay [J]. Nature Methods, 3: 31~33
    Schwartz R, Engel I, Fallahi-Sichani M, Petrie H T, and Murre C. 2006. Gene expression patterns define novel roles for E47 in cell cycle progression, cytokine-mediated signaling, and T lineage development [J]. PNAS, 103(26): 9976~9981
    Stimpson D I, Knepper S M, Shida M, Obata K, Tajima H. 2004. Three-dimensional microarray platform applied to single nucleotide polymorphis manalysis [J]. Biotechnol Bioengin, 87(1): 99~103
    Storm E E, Kingsley D M. 1996. Joint patterning defects caused by single and double mutations in members of the bone morphogenetic protein (BMP) family [J]. Development, 122: 3969~3979
    Stoy J, Edghill E L, Flanagan S E, Ye H, Paz V P, Pluzhnikov A, Below J E, Hayes M G, Cox N J, Lipkind G M, Lipton R B, Greeley S A W, Patch A M, Ellard S, Steiner D F, Hattersley A T, Philipson L H, Bell G I. 2007. Insulin gene mutations as a cause of permanent neonatal diabetes [J]. PNAS, 104(38): 15040~15044
    Sugiura T, H?tten G, Kawai S J. 1999. Minimal promoter components of the human growth/differentiation factor-5 gene [J]. BBRC, 263: 707~713
    Sykes B. 1990. Human geneties Bone disease eracks geneties [J]. Nature, 348: 18~20
    Syvanen A C, Aalto-Setala K, Harju L, Kontula K, S?derlund H. 1990. A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E [J]. Genomics, 8(4): 684~692
    Syvanen A C, Sajantila A, Lukka M. 1993. Identification of individuals by analysis of biallelic DNAmarkers, using PCR and solid-phase minisequencing [J]. Am J Hum Genet, 52: 46~59
    Tabone T, Sallmann G, Webb E. 2006. Detection of 100% of mutations in 124 individuals using a standard UV/Vis microplate reader: A novel concept for mutation scanning [J]. Nucl Acids Res, 34(6): e45
    Tada M, Kanai F, Tanaka Y, Tateishi K, Ohta M, Asaoka Y, Seto M, Muroyama M, Fukai K, Imazeki F, Kawabe T, Yokosuka O, Omata1 M. 2008. Down-regulation of hedgehog-interacting proteint hrough genetic and epigenetic alterations in human hepatocellular carcinoma [J]. Clin Cancer Res, 14: 3768~3776
    Takatsu K, Yokomaku T, Kurata S, Kanagawa T. 2004. A new approach to SNP genotyping with fluorescently labeled mononucleotides [J]. Nucl Acids Res, 32(7): e60
    Taniguchi H, Yamamoto H, Akut su N, Nosho K, Adachi Y, Imai K, Shinomura Y. 2007.
    Transcriptional silencing of hedgehog2interacting protein by Cp G hypermet hylation and chromatic st ructure in human gast rointestinal cancer [J]. J Pat hol, 213:131~139
    Tao H, Cox D R, Frazer K A. 2006. Allele-specific KRT1 expression is a complex trait [J]. PLoS Genet, 2 (6): e93
    Tenaillon MI, Sawkins MC, Long A D, Gaut R L, Doebley J F, Gaut B S. 2001. Patterns of DNA sequence polymorphism along chromosome 1 of maize (Zea mays ssp mays L) [J]. PNAS, 98: 9161~9166
    Teng S W, Guo W Y, Sheu M H, Wang P H. 2003. Initial experience using magnetic resonance imaging in prenatal diagnosis of osteogenesis imperfecta typeⅡ: a case report [J]. Clin Imaging , 27: 55~58
    Thayer S P,di Magliano M P, Heiser P W, Nielsen C M, Robert s D J, Lauwers G Y, Qi Y P, Gysin S, Fernández-del Castillo C, Yajnik V, Antoniu B, McMahon M, Warshaw A L, Hebrok M. 2003. Hedgehog is an early and late mediator of pancreatic cancer tumorigenesis [J]. Nature, 425: 851~856
    Thomas J T, Lin K, Nandedkar M, Camargo M, Cervenka J, Luyten F P. 1996. A humanchondrodysplasia due to a mutation in a TGF-beta superfamily member [J]. Nat Genet, 12: 315~317
    Thomas J W, Lee-Lin S Q, Green E D. 1999. Human-mouse comparative mapping of the genomic region containing CDK6: localization of an evolutionary breakpoint [J]. Mamm. Genome, 10: 764~767
    Till B J, Burtner C, Comai L, Henikoff S. 2004. Mismatch cleavage by single- strand specific nucleases [J]. Nucl Acids Res, 32(8): 2632~3641
    Tishkoff S A, Reed F A, Ranciaro A, Voight B F, Babbitt C C, Silverman J S, Powell K, Mortensen H M, Hirbo J B, Osman M, Ibrahim M, Omar S A, Lema G, Nyambo T B, Ghori J, Bumpstead S, Pritchard J K, Wray G A, Deloukas P. 2006. Convergent adaptation of human lactase persistence in Africa and Europe [J]. Nat Genet, 39(1): 31~40
    Tobler A R, Short S, Andersen M R, Paner T M, Briggs J C, Lambert S M, Wu P P, Wang Y, Spoonde A Y, Koehler R T, Peyret N, Chen C, Broomer A J, Ridzon D A, Zhou H, Hoo B S, Hayashibara KC, Leong L N, Ma C N, Rosenblum B B, Day J P, Ziegle J S, De La Vega F M, Rhodes M D, Hennessy K M, Wenz H M. 2005. The SNPlex genotyping system: A flexible and scalable platform for SNP genotyping [J]. J Biomol Techn, 16: 398~406
    Tolle V, Zizzari P, Tomasetto C, Rio M C, Epelbanm J, Bluet-Pajot M T. 2001. In vivo effets of ghrenlin/motilin-related Peptide on growth hormone secretion in the rat [J]. Neuroendoerinology, 73: 54~61
    Tojo Y, Asahina J, Miyashita Y, Takahashi M, Matsumoto N, Hasegama S, Yohda M, Tajima H. 2005. Development of an automation system for single nucleotide polymorphisms genotyping using bio-strand, a new three-dimensional microarray [J]. J Biosci Bioeng, 99(2): 120~124
    Trinklein N D, Aldred S J, Saldanha A J, Myers R M. 2003. Identification and functional analysis of human transcriptional promoters [J]. Genome Res, 13(2): 308~312
    Tripathi J, Brahmachari SK. 1991. Distribution of simple repetitive (TG/CA)n and (CT/AG)n sequences in human and rodent genomes [J]. Journal of Biomolecular Structure and Dynamics, 9: 387~397
    Tu N, Chen H, Winnikes U, Reinert I, Marmann G, Pirke K M, Lentes K U. 1999. Structural organization and mutational analysis of the human uncoupling protein-2 (hUCP2) gene [J]. Life Sci, 64 (3): 41~50
    Tyagi S, Kramer F R. 1996. Molecular beacons: probes that fluoresce upon hybridization [J]. Nature Biotechnol, 14(3): 303~ 308
    Uitterlinden A G, Burger H, Huang Q, Yue F, McGuigan F E, Grant S F, Hofman A, Leeuwen JPV, Pols H A, Ralston S H. 1998. Relation of alleles of the collagen type I alphal gene to bone density and the risk of osteoporotic fractures in postmenopausal women [J]. N Engl J Med, 338: 1016~1021
    Underhill P A, Jin L, Zemans R, Oefner P J, Cavallisforza L L, Jin L. 1996. A pre-Columbian Y chromosome- specific transition and its implications for human evolutionary history [J]. PNAS, 93(1): 196~200
    Van Eijk M J T, Broekhof J L N, van der Poel H J A, Hogers R C J, Schneiders H, Kamerbeek J, Verstege E, Aart J W, Geerlings H, Buntjer J B, Oeveren A J, Vos P. 2004. SNPWaveTM: A flexible multiplexed SNP genotyping technology [J]. Nucl Acids Res, 32(4): e47
    Van Himbergen T M, Voorbij H A M, Barendrecht A D, Rijn B B, Brambilla R, Tits L J H, Roest, M. 2006. High-throughput genotyping with infrared fluorescence allele specific hybridization (iFLASH): A simple, reliable and low-cost alternative [J]. Clin Biochem, 39(7): 739~745
    Van Laere A S, Nguyen M, Braunschweig M, Nezer C, Collette C, Moreau L, Archibald AL, Haley CS, Buys N, Tally M, Andersson G, Georges M, Andersson L. 2003. A regulatory mutation in IGF2 causes a major QTL effect on muscle growth in the pig [J]. Nature, 425(6960): 832~836
    Vetter, K, Wurst W. 2001. Expression of a novel mouse gene‘mbFZb’in distinct regions of the developing nervous system and the adult brain [J]. Mech Dev, 100: 123~125
    Voight B F, Kudaravalli S, Wen X, Pritchard J K. 2006. A map of recent positive selection in the human genome [J]. PLoS Biol, 4: 1~12
    Wallace R B, Shaffer J, Murphy R F, Shaffer J, Bonner J, Itakura, K. 1979. Hybridization of synthetic oligodeoxyribonucleotides toΦX 174 DNA: the effect of single base pair mismatch [J]. Nucl Acids Res, 6(11): 3543~3558
    Wang D G, Fan J B, Siao C J, Berno A, Young P, Sapolsky R, Ghandour G, Perkins N, Winchester E, Spencer J, Kruglyak L, Stein L, Hsie L, Topaloglou T, Hubbell E, Robinson E, Mittmann M, Morris M S, Shen N, Kilburn D, Rioux J, Nusbaum C, Rozen S, Hudson T J, Lipshutz R, Chee M, Lander E S. 1998.
    Large-scale identification, mapping, and genotyping of single- nucleotide polymorphisms in the human genome [J]. Science, 280(5366): 1077~1082
    Wang H Y, Luo M, Tereshchenko I V, Frikker D M, Cui X, Li J Y, Hu G, Chu Y, Azaro MA, Lin Y, Shen L, Yang Q, Kambouris M E, Gao R, Shih W, Li H. 2005. A genotyping system capable of simultaneously analyzing >1 000 single nucleotide polymorphisms in a haploid genome [J]. Genome Res, 15: 276~283
    Wang J, Chuang K, Ahluwalia M, Patel S, Umblas N, Mirel D, Higuchi R, Germer S. 2005. High-throughput SNP genotyping by single-tube PCR with Tm-shift primers [J]. BioTechniques, 39(6): 885~893
    Weedon M N, Lango H, Lindgren C M, Wallace C, Evans D M, Mangino M, Freathy R M, Perry J R B, Stevens S, Hall A S, Samani N J, Shields B, Prokopenko I, Farrall M, Dominiczak A, Johnson T, Bergmann S, Beckmann J S, Vollenweider P, Waterworth D M, Mooser V, Palmer C N A, Morris A D, Ouwehand W H, Caulfield M, Munroe P B, Hattersley A T, McCarthy M I, Frayling T M . 2008. Genome-wide association analysis identifies 20 loci that influence adult height [J]. Nat Genet, 40: 575~583
    Weichetova M, Stepan J J, Michalska D, Haas T, Pols H A, Uitterlinden A G. 2000. COL1A1 polymorphism contributes to bone mineral density to assess prevalent wrist fraetures [J]. Bone, 26: 287~290
    Westrom B R, Ekman R, Svendsen L, Svendsen J, Karlsson B W. 1987. Levels of immunoreaetive insulin, neurotensin, and bombesin in Porcine colostrum and milk [J]. J Pediatr Gaslroenterol Nutr, 6: 460~465
    Wittwer C T, Reed G H, Gundry C N, Vandersteen J G, Pryor R J. 2003. High-resolution genotyping by amplicon melting analysis using LCGreen [J]. Clin Chem, 49: 853~860
    Wolfman N M, Hattersley G, Cox K, Celeste A J, Nelson R, Yamaji N, Dube J L, DiBlasio-Smith E, Nove J, Song J J, Wozney J M, Rosen V.1997. Ectopic induction of tendon and ligament in rats by growth and differentiation factors 5, 6, and 7, members of the TGF-b gene family [J]. J Clin Invest, 100: 321~330
    Wu D Y, Ugozzoli L, Pal B K, Wallace R B. 1989. Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia [J]. PNAS, 86: 2757~2760
    Xu W X, Hong N, Zhang J K, Wang G P. 2006. Improving the sensitivity of single-strandconformation polymorphism (SSCP) to study the variability of PLMVd [J]. J Viro Meth, 135(2): 276~280
    Yang Z M, Cao Y H, Zhu X Y, Huang Y, Ding YQ, Liu X L. 2009. Znhit1 causes cell cycle arrest and down-regulates CDK6 expression [J]. Biochem. Bioph. Res. Comm, 386, 146~152
    Yeh H C, Ho Y P, Shih I M,Wang T H. 2006. Homogeneous point mutation detection by quantum dot- mediated two- color fluorescence coincidence analysis [J]. Nucl Acids Res, 34(5):e35
    Ye S, Dhillon S, Ke X, Collins A R, Day I N M. 2001. An efficient procedure for genotyping single nucleotide polymorphisms [J]. Nucl Acids Res, 29(17): e88
    Ying S Y , Lin S L. 2004. Intron-derived microRNAs-fine tuning of gene functions [J]. Gene, 342(1): 25~28
    Ying S Y , Lin S L. 2005. Intronic microRNAs [J]. Biochem Biophys Res Comm, 326 (3): 515~520
    Yoshiura K, Kinoshita A, Ishida T, Ninokata A, Ishikawa T, Kaname T, Bannai M, Tokunaga K, Sonoda S, Komaki R, Ihara M, Saenko V A, Alipov GK, Sekine I, Komatsu K, Takahashi H, Nakashima M, Sosonkina N, Mapendano C K, Ghadami M, Nomura M, Liang D S, Miwa N, Kim D K, Garidkhuu A, Natsume N, Ohta T, Tomita H, Kaneko A, Kikuchi M, Russomando G, Hirayama K, Ishibashi M, Takahashi A, Saitou N, Murray J C, Saito S, Nakamura Y, Niikawa N. 2006. A SNP in the ABCC11 gene is the determinant of human earwax type [J]. Nature Genet, 38: 324~330
    Youil R, Kemper B W, Cotton R G H. 1995. Screening for mutations by enzyme mismatch cleavage with T4 endonuclease VII [J]. PNAS, 92(1): 87~91
    Zhang X, Neganova I, Przyborski S, Yang C, Cooke M, Atkinson S P, Anyfantis G, Fenyk S, Keith W N, Hoare S F, Hughes O, Strachan T, Stojkovic M, Hinds P W, Armstrong L, Lako M. 2009. A role for NANOG in G1 to S transition in human embryonic stem cells through direct binding of CDK6 and CDC25A [J]. J Cell Biol, 184: 67~82
    Zhou G H, Gotou M, Kajiyama T, Kambara H. 2005. Multiplex SNP typing by bioluminometric assay coupled with terminator incorporation (BATI) [J]. Nucl Acids Res, 33(15): e133 ~ e133
    Zollman S, Godt D, Prive G G, Couderc J L, Laski F A. 1994. The BTB domain, found primarily in zinc finger proteins, defines an evolutionarily conserved family that includes several developmentally regulated genes in Drosophila [J]. PNAS, 91(22): 10717~10721