湖北土家族15个STR基因座遗传多态性研究
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摘要
目的:了解湖北土家族15个STR基因座(TH01、CSF1PO、HUMTPOX、FGA、vWA、D2S1338、D3S1358、D5S818、D7S820、D8S1179、D13S317、D16S539、D18S51、D19S433、D21S11)的遗传多态性,探讨该民族与国内18个民族群体的遗传关系。
材料与方法:湖北土家族无关个体血样110例,用Chelex-100方法提取DNA,应用AmpFl STR~(?)Identifiler~(Tm)kit荧光标记复合PCR扩增技术对样本DNA15个STR基因座进行扩增,在ABI Prism 3100型DNA序列分析仪对扩增产物进行检测,GeneScan Analysis3.7和Genotyper3.7分析软件对检测结果进行扫描分析。用人工方法(Excel软件)计算各个基因座的遗传多态性参数;另外选择与本研究9个STR基因座完全相同的18个国内民族群体进行群体遗传学研究,根据他们的等位基因频率算出遗传距离后,利用MEGA3.1软件的Neigllbour-Joining方法构建系统发生树。
结果:①遗传多态性参数:湖北土家族15个STR基因座中共检测出132种等位基因,等位基因频率分布在0.0045-0.5182之间;374种基因型,频率分布在0.0091～0.3182之间;杂合度(H_o)分布在0.6364～0.9091,平均杂合度为0.7873、多态信息含量(PIC)分布在0.5549～0.8552、个体识别力(DP)分布在0.7954～0.9595、累积个体识别力(TDP)大于0.99999999998,非父排除率(EP)分布在0.3658～0.8510,累积非父排除率(CEP)大于0.999999992。②群体遗传学研究:湖北土家族与地理位置位于其周边的汉族群体间的遗传距离普遍小于其与其他少数民族群体间的遗传距离,与维吾尔族的遗传距离最大。湖北土家族与其他18个民族群体的系统发生树结果显示湖北土家族首先和广西苗族、广西瑶族相聚,其次同四川汉族、江西汉族、浙江汉族、湖南汉族、河南汉族相聚,再次与安徽汉族、甘肃汉族、甘肃东乡族、陕西汉族、江苏汉族相聚,然后和拉萨藏族及云南彝族、云南纳西族相聚,最后与蒙古族、朝鲜族、维吾尔族相聚。
结论:湖北土家族的15个STR基因座除TPOX基因座外,其他14个基因座都属于高度多态性遗传标记。湖北土家族群体可能是以土家族的遗传标记为主的融合有其他民族遗传特征的群体。
Objective:To investigate the polymorphisms of 15 short tandem repeat(STR) loci(TH01、CSFIPO、HUMTPOX、FGA、vWA、D2S1338、D3S1358、D5S818、D7S820、D8S1179、D13S317、D16S539、D18S51、D19S433、D21S11)in Tujia ethnic group of Hubei province.So as to reveal the genetic relationship among Tujia ethnic group and 18 domestic ethnic groups.
Material and Methods:Sodium-citrated blood specimens from 110 unrelated Tujia individuals were collected,The DNA were extracted from the specimens by method of Chelex-100 extraction.The 15 STR loci were amplified by using the AmpFISTR Identifiler ~(Tm)PCR Amplification Kit and screened by ABI Prism 3100 Genetic Analyzer,and the solution were analyzed by software GeneScan Analysis3.7 and Genotyper3.7.The genetic parameters of each locus were calculated based on Microsoft office excel statistical software.According to genetic frequency of selected 9 STR loci,we finally computed genetic distances among Tujia ethnic group and 18 domestic ethnic groups.The phylogenetic analyses were made by Neighbour-Joining method of MEGA 3.1 software.
Results:①genetic polymorphism parameter:132 alleles and 374 genotypes were observed in the 15 STR loci.The allele frequency and genotype frequency were ranged from 0.0045-0.5182 and 0.0091～0.3182,respectively.The heterozygosities(Ho)of 15 STR loci were between 0.6364 and 0.9091 with average heterozygosity being 0.7873.The polymorphism information contents(PIC)were from 0.5549 to 0.8552.The discrimination powers (DP)were from 0.7954 to 0.9595,with the together discrimination power(TDP)being exceeding 0.99999999998,and the exclusion probabilities of paternity exclusion(EP)were ranged from 0.3658 to 0.8510,with the cumulative exclusion power(CEP)exceeding 0.999999992.②study on population genetics:The genetic distance among Tujia ethnic group and Han ethnic groups which closed to it were smaller than that among Tujia and the other minor ethnic groups,and the most distance relationship existed between Tujia ethnic group and Mongolian.The analysis of phylogenetic tree represent that firstly Tujia ethnic group of Hubei province congregated with Miao ethnic group and Yao ethnic group of Guangxi province,secondly congregated with Han ethnic groups of Sichuan,Jiangxi,Zhejiang,Hunan, Henan,thirdly Anhui,Gansu,Shanxi,Jiangsu then congregated with Tibetan of Lasa,Yi and Naxi ethnic group of Yunnan,finally with Mongolian,Korean and Uygur.
Conclusions:15 STR loci(except TPOX)of Tujia ethnic group of Hubei province are high polymorphism genetic markers.Tujia ethnic group may be a species that is mainly full of its own genetic markers and mixed with genetic characteristics of other ethnic groups.
材料与方法:湖北土家族无关个体血样110例,用Chelex-100方法提取DNA,应用AmpFl STR~(?)Identifiler~(Tm)kit荧光标记复合PCR扩增技术对样本DNA15个STR基因座进行扩增,在ABI Prism 3100型DNA序列分析仪对扩增产物进行检测,GeneScan Analysis3.7和Genotyper3.7分析软件对检测结果进行扫描分析。用人工方法(Excel软件)计算各个基因座的遗传多态性参数;另外选择与本研究9个STR基因座完全相同的18个国内民族群体进行群体遗传学研究,根据他们的等位基因频率算出遗传距离后,利用MEGA3.1软件的Neigllbour-Joining方法构建系统发生树。
结果:①遗传多态性参数:湖北土家族15个STR基因座中共检测出132种等位基因,等位基因频率分布在0.0045-0.5182之间;374种基因型,频率分布在0.0091～0.3182之间;杂合度(H_o)分布在0.6364～0.9091,平均杂合度为0.7873、多态信息含量(PIC)分布在0.5549～0.8552、个体识别力(DP)分布在0.7954～0.9595、累积个体识别力(TDP)大于0.99999999998,非父排除率(EP)分布在0.3658～0.8510,累积非父排除率(CEP)大于0.999999992。②群体遗传学研究:湖北土家族与地理位置位于其周边的汉族群体间的遗传距离普遍小于其与其他少数民族群体间的遗传距离,与维吾尔族的遗传距离最大。湖北土家族与其他18个民族群体的系统发生树结果显示湖北土家族首先和广西苗族、广西瑶族相聚,其次同四川汉族、江西汉族、浙江汉族、湖南汉族、河南汉族相聚,再次与安徽汉族、甘肃汉族、甘肃东乡族、陕西汉族、江苏汉族相聚,然后和拉萨藏族及云南彝族、云南纳西族相聚,最后与蒙古族、朝鲜族、维吾尔族相聚。
结论:湖北土家族的15个STR基因座除TPOX基因座外,其他14个基因座都属于高度多态性遗传标记。湖北土家族群体可能是以土家族的遗传标记为主的融合有其他民族遗传特征的群体。
Objective:To investigate the polymorphisms of 15 short tandem repeat(STR) loci(TH01、CSFIPO、HUMTPOX、FGA、vWA、D2S1338、D3S1358、D5S818、D7S820、D8S1179、D13S317、D16S539、D18S51、D19S433、D21S11)in Tujia ethnic group of Hubei province.So as to reveal the genetic relationship among Tujia ethnic group and 18 domestic ethnic groups.
Material and Methods:Sodium-citrated blood specimens from 110 unrelated Tujia individuals were collected,The DNA were extracted from the specimens by method of Chelex-100 extraction.The 15 STR loci were amplified by using the AmpFISTR Identifiler ~(Tm)PCR Amplification Kit and screened by ABI Prism 3100 Genetic Analyzer,and the solution were analyzed by software GeneScan Analysis3.7 and Genotyper3.7.The genetic parameters of each locus were calculated based on Microsoft office excel statistical software.According to genetic frequency of selected 9 STR loci,we finally computed genetic distances among Tujia ethnic group and 18 domestic ethnic groups.The phylogenetic analyses were made by Neighbour-Joining method of MEGA 3.1 software.
Results:①genetic polymorphism parameter:132 alleles and 374 genotypes were observed in the 15 STR loci.The allele frequency and genotype frequency were ranged from 0.0045-0.5182 and 0.0091～0.3182,respectively.The heterozygosities(Ho)of 15 STR loci were between 0.6364 and 0.9091 with average heterozygosity being 0.7873.The polymorphism information contents(PIC)were from 0.5549 to 0.8552.The discrimination powers (DP)were from 0.7954 to 0.9595,with the together discrimination power(TDP)being exceeding 0.99999999998,and the exclusion probabilities of paternity exclusion(EP)were ranged from 0.3658 to 0.8510,with the cumulative exclusion power(CEP)exceeding 0.999999992.②study on population genetics:The genetic distance among Tujia ethnic group and Han ethnic groups which closed to it were smaller than that among Tujia and the other minor ethnic groups,and the most distance relationship existed between Tujia ethnic group and Mongolian.The analysis of phylogenetic tree represent that firstly Tujia ethnic group of Hubei province congregated with Miao ethnic group and Yao ethnic group of Guangxi province,secondly congregated with Han ethnic groups of Sichuan,Jiangxi,Zhejiang,Hunan, Henan,thirdly Anhui,Gansu,Shanxi,Jiangsu then congregated with Tibetan of Lasa,Yi and Naxi ethnic group of Yunnan,finally with Mongolian,Korean and Uygur.
Conclusions:15 STR loci(except TPOX)of Tujia ethnic group of Hubei province are high polymorphism genetic markers.Tujia ethnic group may be a species that is mainly full of its own genetic markers and mixed with genetic characteristics of other ethnic groups.
引文
1 Hancock JM(1999)Microsatellites and other simple sequences:genomic context and mutational,mechanism.In:Goldstein DB,Schotterer C(eds)Microsatellites:evolution and applications.Oxford University Press,Oxford,p1.
2 Bender K,Stradmann-Bellinghausen B,Ritter C,Schnerder PM,Comparative analysis of short randem repeats and single nucleotide polymorphisms on the Y-chromosone in Germans,Chinese and Thais.Leg Med(Tokyo),2003,5Suppll1:S164-168.
3 Weber JL,Wong C.Mutation of human short tandem repeats.Hum Mol Genet.1993,2(8):1123-1128.
4 俞建昆.中国8个民族群体遗传多样性分析(学位论文).中国协和医科大学20020501.
5 贺林.解剖生命,人类基因组计划和后基因组计划[M].北京:科学避版社.2000,17(1):57-59.
6 Knijff P,Kayser M,Caglia A,et al.Chromosome Y microsatellites:population genetic and evolutionary aspects.Int J Legal Med,1997,110:134-149.
7 Nei M & Takezaki N.The root of the phylogenetic tree of human population.Biol.Evol.1996,13:170-176.
8 潘光旦.《湘西北的“土家”与古代的巴人》潘光旦民族研究文集.北京:民族出版社 1995.
9 曹毅.《土家族族源再探》湖北民族学院学报(社会科学版)1994,(4):35-38.
10 任桂园.大巫山文化.重庆大学出版社2001,1-97.
11 伍新尧.高级法医学.郑州大学出版社2002,289-293.
12 Nei M.Estimation of average heterozygosity and genetic distance from a small number of individual[J].Genetics,1978,89(6):583.
13 Odelberg S J,White R.Repetive DNA:molecular structure,polymorphisms, and forensic applicat ion[A].In:DNA and other polymorphisms in forensic science[M].Chicago:Year Book Medical Publishers Inc,1990.
14 Botstein D,White RL,Skolnick M,et al.Construction of a genetic linkage map in man using rest fiction length polymorphisms[J].Am J Hum Genet,1980,32(3):314.
15 王振原,王芳,余荣军等.延安地区汉族人群15个STR基因座多态性分析中国医学科学院学报,2004,26(5):49-55.
16 刘秋玲,吕德坚,陈丽娴等.湖南汉族人群15个STR基因座的遗传多态性.中国法医学杂志,2004,19(2):98-99.
17 孙耀东,李健,陈月勇等.盐城地区汉族人群15个STR基因座的遗传多态性.中国法医学杂志,2006,21(4):235-236.
18 赖江华,张保华,郑海波等.中国纳西族STR遗传结构研究.遗传学报,2002,29(7):576-580.
19 周文斌,裴君等.江西汉族人群15个STR基因座的多态性调查法律与医学杂志,2006,13(1):53-54.
20 成都汉族群体15个短串联重复序列基因座遗传多态性.中华医学遗传学杂志,2005,4,22(2):169-173.
21 郑卫红,王留柳,宫荣彬等.安徽地区汉族人群15个STR基因座遗传多态性中国法医学杂志.2006,21(3):170-171.
22 陶晓岚,聂笑联,张杰等.甘肃地区汉族人群15个STR基因座遗传多态性中国法医学杂志.2006,21(5):306-307.
23 冯常俊,王志强,王磊等.河南地区汉族人群15个STR基因座遗传多态性.刑事技术.2005,(6):36-37.
24 郝宏蕾,吴微微,潘立鹏等.浙江汉族人群15个STR基因座遗传多态性.中国法医学杂志.2006,21(5):303-304.
25 匡金枝,郭微,张颖等.新疆维吾尔族15个STR基因座的遗传多态性.刑事技术.2004,(3):14-17.
26 高雅,金天博,赖江华等.云南彝族九个短串联重复序列位点遗传多态性.中华医学遗传学杂志.2006,4,23(2):216-218.
27 李宁,苏玉虹,席焕久等.拉萨市藏族人群15个STR基因座多态性的 研究.遗传.2006,28(11):1361-1364。
28 刘超,杨电,刘长晖等.广西苗族人群15个STR基因座的多态性调查.中国法医学杂志.2003,19,(4)204-206.
29 高放,毕世华,赖江华等.中国瑶族人群(广西)9个STR基因多态性研究.遗传.2002,24(5):537-538.
30 顾明波,李晓平,杜庆新等.中国布里亚特蒙古族人群15个STR基因座的遗传多态性.中国法医学杂志.2004,19(4):229-230.
31 高稚,金天博,赖江华等.中国朝鲜族9个STR基因座遗传多态性研究.遗传.2002,24(6):636-638.
32 陈腾,张琳琳,赖江华等.中国东乡族9个STR基因座遗传多态性研究.遗传.2002,24(3):247-250.
33 朱波峰.云南阿昌族九个STR基因座的遗传多态性研究分析(学位论文).西安交通大学.20020912.
34 郑秀芬.法医学DNA分析[M].中国人民公安大学出版社.2002.
35 常青,周开亚.分子进化研究中系统发生树的重建[J].生物多样性.1998,6(1):55-62.
36 朱圣钟.明清鄂西南土家族地区民族的分布与变迁.湖北民族学院学报(哲学社会科学版).2001,19(3):51-55.
37 徐锐,徐林,邓琼英等.广西毛南族群体12个短串联重复序列的遗传多态性研究.解剖学杂志.2007,30,(1):96-100.
38 Gill P.A new method of STR interpretation using interential logic development of a criminal intellience database.Int.J.Leg.Med,1996,109:14.
39 刘雅诚,霍振义,唐晖.STR三组复合扩增(9个基因座)的法医学应用.重庆:第二次全国法医物证学学术交流会论文集.1999.76-79.
40 崔静,倪鹏生,沈福民等.遗传距离方法在统计分析中的应用[J].中华预防医学杂志.2002,36(2):121-122.
41 根井正立.分子遗传学与进化论.超星图书馆.1983,06:172.
42 杜若甫.中国人群体遗传学[M].北京:科学出版社.2004.
43 Saitou N,Nei.M.The neighbor joining,method:A new method for reconstrution phylogenetic trees.Mol.Biol.Evol,1987,4:406-425.
44 李绍明.《川东南土家与巴国南境问题》.《思想战线》.1985,6.
45 张有隽.瑶族的历史和文化[M].南宁:广西民族出版社.2001:18-21.
46 罗黎明.广西世居民族[M].南宁:广西民族出版社.2004:70-125.
47 金力,褚嘉佑.中华民族遗传多样性研究[M].上海科学技术出版社.2006:100-102.
48 罗远才,韩承柱,肖冠宇.湖南土家族的体质特征.人类学学报.1985,5,4(2):160-172.
1 Hancock JM (1999) Microsatellites and other simple sequences: genomic context and mutational mechanism. In: Goldstein DB, Schotterer C (eds) Microsatellites: evolution and applications. Oxford University Press, Oxford, p1.
2 Litt M , Luty J A hypervariable microsatellite revealed by in vitro amplification of a dlnucleotlde repeat within the cardiac muscle actin gene. Am J Hum Genet, 1989, 44(3): 397.
3 Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerases chain reaction. Am J Hum Genet, 1989, 44(3):388.
4 Edwards AL, Andrew C, Holly AH, et al. DNA typing and genetic mapping with trimer ic and tetrameric tandem repeats. Am J Hum Genet, 1991/ 49(4): 746.
5 Darvasi A , Kerem B, Deletion and insertion mutation in short tandem repeats in the coding regions of human genes [J ] .Am J Hum Genet .1995 , 3(1): 14-20.
6 Botstein, D., White, R. L., Skolnick, M. H. and Davis, R.W. (1980) Construction of genetic linkage map in man using restriction fragment length polymorphisms. Am. J. Hum. Genet.32,314—331.
7 Gusella, J. F., Wexler, N. S., Conneally, P. M., Naylor, K.,Wallace, M. C., Sakaguchi, A. Y., Young, A. B., Shoulson, I.,Bonilla, E. and Martin, J. B. (1983) A polymorphic DNA marker genetically linked to Huntingtons disease. Nature 306,234-238.
8 Rceders, S. T., Breuning, M. H., Davies, K. E., Nicolls, R. D.,Jarman, A. P., Higgs, D. R., Pearson, P. L. and Weatherall, D.J. (1985) A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 317,542-544.
9 Koenig, M., Hoffman, E. P., Bertelson, C. J., Monaco, A. P.,Feener, C. and Kunkel, L. M. (1987) Complete cloning of the Duchenne muscular dystrophy (DMD): cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50,509-517.
10 Kerem, B., Rommens, J. M., Buchanan, J. A., Markiewicz, D.,Cox, T. K., Chakravarti, A., Buchwald, M. and Tsui, L.C.(1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245,1073-1080.
11 Jeffreys, A. J., Wilson, V. and Thein, S. L. (1985) Hypervariable minisatellite regions in human DNA. Nature 314,67-73.
12 Patil, N., Berno, A. J., Hinds, D. A., Barrett, W. A., Doshi, J. M.,Hacker, C. R., Kautzer, C. R., Lee, D. H., Marjoribanks, C.,McDonough, D. P., et al. (2001) Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21..Science, 294,719-1723.
13 Sachidanandam, R., Weissman, D., Schmidt, S. C., Kakol, J. M.,Stein, L. D., Marth, G., Sherry, S., Mullikin, J. C., Mortimore,B. J., Willey, D. L., et al. (2001) A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409,28-933.
14 Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J.,Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt,R. A., et al. (2001) The sequence of the human genome-Science 291,1304-1351.
15 Weber, J. L. and May, P. E. (1989) Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am. J. Hum. Genet. 44,388-396.
16 Wang, D. G., Fan, J. B., Siao, C. J., Berno, A., Young, P.,Sapolsky, R., Ghandour, G., erkins, N., Winchester, E.,Spencer, J., et al. (1998) Large scale identification, mapping and genotyping of single nucleotide polymorphisms in the human genome. Science 280,1077-1082.
17 Goddard,K.A.B.,Hopkins,P.J.,Hall,J.M.,Witte J.S.(2000)Linkage disequilibrium and allele-frequency distributions for 114 single-nucleotide polymorphisms in five populations.Am.J.Hum.Genet.66,216-234.
18 Botstein,D.and Risch,N.(2003)Discovering genotypes underlying human phenotypes:past successes fro Mendelian disease,future approaches for complex disease.Nat.Genet.33,228-237.
19 Botstein,D.,White,R.L.,Skolnick,M.H.and Davis,R.W.(1980)Construction of genetic linkage map in man using restriction fragment length polymorphisms.Am.J.Hum.Genet.32,314-331.
20 Harris PC,Thomas S,Ratch iffe PJ,et al.Rap id gene analysis of families with polycystic kidney disease 1 by means of a microsatellite marker[J].Lancet,1991,338(8781):1484-1487.
21 Goltsov AA,Eisensmith RC,Naughton ER,et al.A single polymorphic STR stystemin the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria[J].Hum Mol Genet,1993,2(2):577-582.
22 Eggeling F,Fregtag M,Fahsold R,et al.Rapid detection of trisomy 21 by quantitive fluorescent PCR[J].Hum Genet,1993,91(6):567-570.
23 Adinolfi M,Sherlock J,Pertl B.Rapid detection of selected aneuploidies by quantitive fluorescent PCR[J].Bio Essays,1995,17(7):661-664.
24 黄文,张成,谢有梅等.应用多个微卫星DNA位点进行Duchenne/Becker 肌营养不良症携带者的检测.中华医学遗传学杂志.2004,6,21(3):224-228.
25 钟昌高,李麓芸,卢光绣.应用连锁分析对杜氏P贝氏肌营养不良症家系进行快速携带者检测和产前基因诊断.湖南医科大学学报.2002,27(6):573-574.
26 初少莉,朱鼎良,王谷亮.细胞因子及相关受体基因位点与中国人原 发性高血压的连锁分析.中华医学遗传学杂志.2002,6,19(3):221-224.
27 薛明战,刘治全,侯嵘等.盐敏感性高血压与第16号染色体短臂串联重复序列βENaCGT21遗传相关性研究.中国公共卫生学报.1998,17,(6):321-322.
28 王玉霞,郑强荪,舒青等.动脉粥样硬化遗传易感性与HUMARA(GGC)n基因多态性的相关性研究.心脏杂志.2002,14(2):126-128.
29 Hanis CL.A genome-wide search for human non-insulin-dependent(type 2)diabetes genes reverals a major susceptibility locus on chromo some 2[see comments].Nat Genet,1996,14:131.
30 班博,王华,何戎华等.D2S140基因多态性与2型糖尿病的相关性研究.中国糖尿病杂志.2001,(9)2:98-100.
31 康龙丽,郭雄,左弘.大骨节病患者12号染色体7个STR位点基因频率分析.中华流行病学杂志.2005,10,26(10):790-793.
32 Gonzalez-Zulueta M,Ruppert JM.Microsatellite instability in bladder cancer[J].Cancer Res,1993,53(23):5620-5627.
33 Knowles MA,Shaw ME,Proctor AJ.Deletion mapping of chromosome 8in cancers of the urinary bladder using restriction fragment length poly-morphisms and micrositellite polymorphisms[J].Oncogene,1993,8(5):1357-1364.
34 Peltomaki P.Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndromen [J].Cancer Res,1993,53:5853-5855.
35 Peng Z,Zhou C,Zhang F,Ling Y,Tang H,Bai S,Liu W,Qiu G,He L.Loss of heterozygosity of chromosome 20 in sporadic colorectal cancer.Chin Med J 2002;115:1529-1532.
36 Zhang F,Zhou C,Ling Y,Qiu G,Bai S,Liu W,He L,Peng Z.Allelic analysis on chromosome 5 in sporadic colorectal cancer patients Zhonghua Zhongliu Zazhi.2002;24:458-460.
37 Yue CM,Bi MX,Tan W,Deng DJ,Zhang XY,Guo LP,Lin DX,Lu SH.Short tandem repeat polymorphism in a novel esophageal cancer-related gene(ECRG2)implicates susceptibility to esophageal cancer in Chinese population.Int J Cancer 2004;108:232-236.
38 Tseng TL,Shih YP,Huang YC,Wang CK,Chen PH,Chang JG,Yeh KT,Chen YM,Buetow KH.Genotypic and phenotypic characterization of a putative tumor susceptibility gene,GNMT,in liver cancer.Cancer Res 2003;63:647-654.
39 刘迎,曾甫清.微卫星不稳定性与膀胱肿瘤.临床泌尿外科杂志.2001,16(11):489.
40 Perit B,Samura O,Sekizawa A,et al.Detection of male and female DNA in maternal plasma by multiplex fluorensent PCR amplification of shout tandem repeats(STRs).Am J Hum Genet,1999,65(4):A77.
41.Perit B,Sekizawa A,Samura O,et al.Detection of male and female DNA in maternal plasma by multiplex fluorensent polymerase chain reaction amplification of shout tandem repeats.Hum Genet,2000,106:45-49.
42 方群,安娜,伍新尧等.短串联重复序列聚合酶链反应产前诊断多胎妊娠合子性质及常见染色体三体.中华医学杂志.2004,4,84,(8):667-670.
43 朱金玲,扈清云,张玉萍等.应用PCR-STR分型技术快速产前基因诊断Down 综合征.中国优生与遗传杂志.2004,12,(6):36-37。
44 Jorde LB,Rogers AR,Bamshad MJ,et al.Free in PMC Microsatellites diversity and demographic history of modern humans Proc Natl Acad Sci USA.1997,Apr 118,94(7):3100-3107.
45 Hammer MF,Spurdle AB,Karafet T,et al.The geographic distribution of human Y chromosome variation.Genetics,1997,145(3)787-805.
46 Calafell F,Shuster A,Speed WC,et al.Short tandem repeat polymorphism evolusion in humans.Eur J Hum Geriet,1998,6(1):38-49.
47 郑秀芬.法医学DNA分析[M].中国人民公安大学出版社.2002.
48 任贺,张庆霞,严江伟等.杯口边缘附着微量口唇脱落细胞的检验刑事技术.2004,(6):10-12.
49 叶健,季安全,赵兴春等.烧骨DNA检验技术的研究.法医学杂志.2004,8,20(3):155-159.
50 马威,张亮,李岩等.人类短串联重复序列(STR)及其研究进展.大连医科大学学报.2007,2,29(1):78-81.
2 Bender K,Stradmann-Bellinghausen B,Ritter C,Schnerder PM,Comparative analysis of short randem repeats and single nucleotide polymorphisms on the Y-chromosone in Germans,Chinese and Thais.Leg Med(Tokyo),2003,5Suppll1:S164-168.
3 Weber JL,Wong C.Mutation of human short tandem repeats.Hum Mol Genet.1993,2(8):1123-1128.
4 俞建昆.中国8个民族群体遗传多样性分析(学位论文).中国协和医科大学20020501.
5 贺林.解剖生命,人类基因组计划和后基因组计划[M].北京:科学避版社.2000,17(1):57-59.
6 Knijff P,Kayser M,Caglia A,et al.Chromosome Y microsatellites:population genetic and evolutionary aspects.Int J Legal Med,1997,110:134-149.
7 Nei M & Takezaki N.The root of the phylogenetic tree of human population.Biol.Evol.1996,13:170-176.
8 潘光旦.《湘西北的“土家”与古代的巴人》潘光旦民族研究文集.北京:民族出版社 1995.
9 曹毅.《土家族族源再探》湖北民族学院学报(社会科学版)1994,(4):35-38.
10 任桂园.大巫山文化.重庆大学出版社2001,1-97.
11 伍新尧.高级法医学.郑州大学出版社2002,289-293.
12 Nei M.Estimation of average heterozygosity and genetic distance from a small number of individual[J].Genetics,1978,89(6):583.
13 Odelberg S J,White R.Repetive DNA:molecular structure,polymorphisms, and forensic applicat ion[A].In:DNA and other polymorphisms in forensic science[M].Chicago:Year Book Medical Publishers Inc,1990.
14 Botstein D,White RL,Skolnick M,et al.Construction of a genetic linkage map in man using rest fiction length polymorphisms[J].Am J Hum Genet,1980,32(3):314.
15 王振原,王芳,余荣军等.延安地区汉族人群15个STR基因座多态性分析中国医学科学院学报,2004,26(5):49-55.
16 刘秋玲,吕德坚,陈丽娴等.湖南汉族人群15个STR基因座的遗传多态性.中国法医学杂志,2004,19(2):98-99.
17 孙耀东,李健,陈月勇等.盐城地区汉族人群15个STR基因座的遗传多态性.中国法医学杂志,2006,21(4):235-236.
18 赖江华,张保华,郑海波等.中国纳西族STR遗传结构研究.遗传学报,2002,29(7):576-580.
19 周文斌,裴君等.江西汉族人群15个STR基因座的多态性调查法律与医学杂志,2006,13(1):53-54.
20 成都汉族群体15个短串联重复序列基因座遗传多态性.中华医学遗传学杂志,2005,4,22(2):169-173.
21 郑卫红,王留柳,宫荣彬等.安徽地区汉族人群15个STR基因座遗传多态性中国法医学杂志.2006,21(3):170-171.
22 陶晓岚,聂笑联,张杰等.甘肃地区汉族人群15个STR基因座遗传多态性中国法医学杂志.2006,21(5):306-307.
23 冯常俊,王志强,王磊等.河南地区汉族人群15个STR基因座遗传多态性.刑事技术.2005,(6):36-37.
24 郝宏蕾,吴微微,潘立鹏等.浙江汉族人群15个STR基因座遗传多态性.中国法医学杂志.2006,21(5):303-304.
25 匡金枝,郭微,张颖等.新疆维吾尔族15个STR基因座的遗传多态性.刑事技术.2004,(3):14-17.
26 高雅,金天博,赖江华等.云南彝族九个短串联重复序列位点遗传多态性.中华医学遗传学杂志.2006,4,23(2):216-218.
27 李宁,苏玉虹,席焕久等.拉萨市藏族人群15个STR基因座多态性的 研究.遗传.2006,28(11):1361-1364。
28 刘超,杨电,刘长晖等.广西苗族人群15个STR基因座的多态性调查.中国法医学杂志.2003,19,(4)204-206.
29 高放,毕世华,赖江华等.中国瑶族人群(广西)9个STR基因多态性研究.遗传.2002,24(5):537-538.
30 顾明波,李晓平,杜庆新等.中国布里亚特蒙古族人群15个STR基因座的遗传多态性.中国法医学杂志.2004,19(4):229-230.
31 高稚,金天博,赖江华等.中国朝鲜族9个STR基因座遗传多态性研究.遗传.2002,24(6):636-638.
32 陈腾,张琳琳,赖江华等.中国东乡族9个STR基因座遗传多态性研究.遗传.2002,24(3):247-250.
33 朱波峰.云南阿昌族九个STR基因座的遗传多态性研究分析(学位论文).西安交通大学.20020912.
34 郑秀芬.法医学DNA分析[M].中国人民公安大学出版社.2002.
35 常青,周开亚.分子进化研究中系统发生树的重建[J].生物多样性.1998,6(1):55-62.
36 朱圣钟.明清鄂西南土家族地区民族的分布与变迁.湖北民族学院学报(哲学社会科学版).2001,19(3):51-55.
37 徐锐,徐林,邓琼英等.广西毛南族群体12个短串联重复序列的遗传多态性研究.解剖学杂志.2007,30,(1):96-100.
38 Gill P.A new method of STR interpretation using interential logic development of a criminal intellience database.Int.J.Leg.Med,1996,109:14.
39 刘雅诚,霍振义,唐晖.STR三组复合扩增(9个基因座)的法医学应用.重庆:第二次全国法医物证学学术交流会论文集.1999.76-79.
40 崔静,倪鹏生,沈福民等.遗传距离方法在统计分析中的应用[J].中华预防医学杂志.2002,36(2):121-122.
41 根井正立.分子遗传学与进化论.超星图书馆.1983,06:172.
42 杜若甫.中国人群体遗传学[M].北京:科学出版社.2004.
43 Saitou N,Nei.M.The neighbor joining,method:A new method for reconstrution phylogenetic trees.Mol.Biol.Evol,1987,4:406-425.
44 李绍明.《川东南土家与巴国南境问题》.《思想战线》.1985,6.
45 张有隽.瑶族的历史和文化[M].南宁:广西民族出版社.2001:18-21.
46 罗黎明.广西世居民族[M].南宁:广西民族出版社.2004:70-125.
47 金力,褚嘉佑.中华民族遗传多样性研究[M].上海科学技术出版社.2006:100-102.
48 罗远才,韩承柱,肖冠宇.湖南土家族的体质特征.人类学学报.1985,5,4(2):160-172.
1 Hancock JM (1999) Microsatellites and other simple sequences: genomic context and mutational mechanism. In: Goldstein DB, Schotterer C (eds) Microsatellites: evolution and applications. Oxford University Press, Oxford, p1.
2 Litt M , Luty J A hypervariable microsatellite revealed by in vitro amplification of a dlnucleotlde repeat within the cardiac muscle actin gene. Am J Hum Genet, 1989, 44(3): 397.
3 Weber JL, May PE. Abundant class of human DNA polymorphisms which can be typed using the polymerases chain reaction. Am J Hum Genet, 1989, 44(3):388.
4 Edwards AL, Andrew C, Holly AH, et al. DNA typing and genetic mapping with trimer ic and tetrameric tandem repeats. Am J Hum Genet, 1991/ 49(4): 746.
5 Darvasi A , Kerem B, Deletion and insertion mutation in short tandem repeats in the coding regions of human genes [J ] .Am J Hum Genet .1995 , 3(1): 14-20.
6 Botstein, D., White, R. L., Skolnick, M. H. and Davis, R.W. (1980) Construction of genetic linkage map in man using restriction fragment length polymorphisms. Am. J. Hum. Genet.32,314—331.
7 Gusella, J. F., Wexler, N. S., Conneally, P. M., Naylor, K.,Wallace, M. C., Sakaguchi, A. Y., Young, A. B., Shoulson, I.,Bonilla, E. and Martin, J. B. (1983) A polymorphic DNA marker genetically linked to Huntingtons disease. Nature 306,234-238.
8 Rceders, S. T., Breuning, M. H., Davies, K. E., Nicolls, R. D.,Jarman, A. P., Higgs, D. R., Pearson, P. L. and Weatherall, D.J. (1985) A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 317,542-544.
9 Koenig, M., Hoffman, E. P., Bertelson, C. J., Monaco, A. P.,Feener, C. and Kunkel, L. M. (1987) Complete cloning of the Duchenne muscular dystrophy (DMD): cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50,509-517.
10 Kerem, B., Rommens, J. M., Buchanan, J. A., Markiewicz, D.,Cox, T. K., Chakravarti, A., Buchwald, M. and Tsui, L.C.(1989) Identification of the cystic fibrosis gene: genetic analysis. Science 245,1073-1080.
11 Jeffreys, A. J., Wilson, V. and Thein, S. L. (1985) Hypervariable minisatellite regions in human DNA. Nature 314,67-73.
12 Patil, N., Berno, A. J., Hinds, D. A., Barrett, W. A., Doshi, J. M.,Hacker, C. R., Kautzer, C. R., Lee, D. H., Marjoribanks, C.,McDonough, D. P., et al. (2001) Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21..Science, 294,719-1723.
13 Sachidanandam, R., Weissman, D., Schmidt, S. C., Kakol, J. M.,Stein, L. D., Marth, G., Sherry, S., Mullikin, J. C., Mortimore,B. J., Willey, D. L., et al. (2001) A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 409,28-933.
14 Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J.,Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt,R. A., et al. (2001) The sequence of the human genome-Science 291,1304-1351.
15 Weber, J. L. and May, P. E. (1989) Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am. J. Hum. Genet. 44,388-396.
16 Wang, D. G., Fan, J. B., Siao, C. J., Berno, A., Young, P.,Sapolsky, R., Ghandour, G., erkins, N., Winchester, E.,Spencer, J., et al. (1998) Large scale identification, mapping and genotyping of single nucleotide polymorphisms in the human genome. Science 280,1077-1082.
17 Goddard,K.A.B.,Hopkins,P.J.,Hall,J.M.,Witte J.S.(2000)Linkage disequilibrium and allele-frequency distributions for 114 single-nucleotide polymorphisms in five populations.Am.J.Hum.Genet.66,216-234.
18 Botstein,D.and Risch,N.(2003)Discovering genotypes underlying human phenotypes:past successes fro Mendelian disease,future approaches for complex disease.Nat.Genet.33,228-237.
19 Botstein,D.,White,R.L.,Skolnick,M.H.and Davis,R.W.(1980)Construction of genetic linkage map in man using restriction fragment length polymorphisms.Am.J.Hum.Genet.32,314-331.
20 Harris PC,Thomas S,Ratch iffe PJ,et al.Rap id gene analysis of families with polycystic kidney disease 1 by means of a microsatellite marker[J].Lancet,1991,338(8781):1484-1487.
21 Goltsov AA,Eisensmith RC,Naughton ER,et al.A single polymorphic STR stystemin the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria[J].Hum Mol Genet,1993,2(2):577-582.
22 Eggeling F,Fregtag M,Fahsold R,et al.Rapid detection of trisomy 21 by quantitive fluorescent PCR[J].Hum Genet,1993,91(6):567-570.
23 Adinolfi M,Sherlock J,Pertl B.Rapid detection of selected aneuploidies by quantitive fluorescent PCR[J].Bio Essays,1995,17(7):661-664.
24 黄文,张成,谢有梅等.应用多个微卫星DNA位点进行Duchenne/Becker 肌营养不良症携带者的检测.中华医学遗传学杂志.2004,6,21(3):224-228.
25 钟昌高,李麓芸,卢光绣.应用连锁分析对杜氏P贝氏肌营养不良症家系进行快速携带者检测和产前基因诊断.湖南医科大学学报.2002,27(6):573-574.
26 初少莉,朱鼎良,王谷亮.细胞因子及相关受体基因位点与中国人原 发性高血压的连锁分析.中华医学遗传学杂志.2002,6,19(3):221-224.
27 薛明战,刘治全,侯嵘等.盐敏感性高血压与第16号染色体短臂串联重复序列βENaCGT21遗传相关性研究.中国公共卫生学报.1998,17,(6):321-322.
28 王玉霞,郑强荪,舒青等.动脉粥样硬化遗传易感性与HUMARA(GGC)n基因多态性的相关性研究.心脏杂志.2002,14(2):126-128.
29 Hanis CL.A genome-wide search for human non-insulin-dependent(type 2)diabetes genes reverals a major susceptibility locus on chromo some 2[see comments].Nat Genet,1996,14:131.
30 班博,王华,何戎华等.D2S140基因多态性与2型糖尿病的相关性研究.中国糖尿病杂志.2001,(9)2:98-100.
31 康龙丽,郭雄,左弘.大骨节病患者12号染色体7个STR位点基因频率分析.中华流行病学杂志.2005,10,26(10):790-793.
32 Gonzalez-Zulueta M,Ruppert JM.Microsatellite instability in bladder cancer[J].Cancer Res,1993,53(23):5620-5627.
33 Knowles MA,Shaw ME,Proctor AJ.Deletion mapping of chromosome 8in cancers of the urinary bladder using restriction fragment length poly-morphisms and micrositellite polymorphisms[J].Oncogene,1993,8(5):1357-1364.
34 Peltomaki P.Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndromen [J].Cancer Res,1993,53:5853-5855.
35 Peng Z,Zhou C,Zhang F,Ling Y,Tang H,Bai S,Liu W,Qiu G,He L.Loss of heterozygosity of chromosome 20 in sporadic colorectal cancer.Chin Med J 2002;115:1529-1532.
36 Zhang F,Zhou C,Ling Y,Qiu G,Bai S,Liu W,He L,Peng Z.Allelic analysis on chromosome 5 in sporadic colorectal cancer patients Zhonghua Zhongliu Zazhi.2002;24:458-460.
37 Yue CM,Bi MX,Tan W,Deng DJ,Zhang XY,Guo LP,Lin DX,Lu SH.Short tandem repeat polymorphism in a novel esophageal cancer-related gene(ECRG2)implicates susceptibility to esophageal cancer in Chinese population.Int J Cancer 2004;108:232-236.
38 Tseng TL,Shih YP,Huang YC,Wang CK,Chen PH,Chang JG,Yeh KT,Chen YM,Buetow KH.Genotypic and phenotypic characterization of a putative tumor susceptibility gene,GNMT,in liver cancer.Cancer Res 2003;63:647-654.
39 刘迎,曾甫清.微卫星不稳定性与膀胱肿瘤.临床泌尿外科杂志.2001,16(11):489.
40 Perit B,Samura O,Sekizawa A,et al.Detection of male and female DNA in maternal plasma by multiplex fluorensent PCR amplification of shout tandem repeats(STRs).Am J Hum Genet,1999,65(4):A77.
41.Perit B,Sekizawa A,Samura O,et al.Detection of male and female DNA in maternal plasma by multiplex fluorensent polymerase chain reaction amplification of shout tandem repeats.Hum Genet,2000,106:45-49.
42 方群,安娜,伍新尧等.短串联重复序列聚合酶链反应产前诊断多胎妊娠合子性质及常见染色体三体.中华医学杂志.2004,4,84,(8):667-670.
43 朱金玲,扈清云,张玉萍等.应用PCR-STR分型技术快速产前基因诊断Down 综合征.中国优生与遗传杂志.2004,12,(6):36-37。
44 Jorde LB,Rogers AR,Bamshad MJ,et al.Free in PMC Microsatellites diversity and demographic history of modern humans Proc Natl Acad Sci USA.1997,Apr 118,94(7):3100-3107.
45 Hammer MF,Spurdle AB,Karafet T,et al.The geographic distribution of human Y chromosome variation.Genetics,1997,145(3)787-805.
46 Calafell F,Shuster A,Speed WC,et al.Short tandem repeat polymorphism evolusion in humans.Eur J Hum Geriet,1998,6(1):38-49.
47 郑秀芬.法医学DNA分析[M].中国人民公安大学出版社.2002.
48 任贺,张庆霞,严江伟等.杯口边缘附着微量口唇脱落细胞的检验刑事技术.2004,(6):10-12.
49 叶健,季安全,赵兴春等.烧骨DNA检验技术的研究.法医学杂志.2004,8,20(3):155-159.
50 马威,张亮,李岩等.人类短串联重复序列(STR)及其研究进展.大连医科大学学报.2007,2,29(1):78-81.