DNA修复基因XRCC1单核苷酸多态性与系统性红斑狼疮的相关性
|
摘要
单核苷酸多态性(single nucleotide polymorphism,SNP)指存在于某一(些)群体、正常个体的基因组DNA中单碱基的序列差异,是生物体基因组中存在最简单也是最广泛的多态形式,人类遗传基因的多态性在遗传信息上的本质表现,90%以上是由SNP所引起的。其具有分布广,数目多,且相对稳定的存在于染色体上等特点。SNP的产生可能会造成蛋白质表现的改变,所以SNP也成为影响人类体质的关键,使人可能特别容易或特别不容易患上某些疾病,或使得对于治疗药物的反应性有所差异。当前人们正致力于疾病基因背景的探索,SNP由于其在基因遗传研究方面所具备的优势,成为继人类基因组计划完成之后又一研究新热点。
系统性红斑狼疮(systemic lupus erythematosus SLE)是一种慢性自身免疫性疾病,其特征表现为多种自身抗体产生并引起免疫复合物沉积导致多系统损伤,从免疫学角度,SLE是针对多种自身抗原,主要为核内抗原如:DNA、组蛋白和核小体等产生的自身免疫反应,其中DNA是最重要的抗原之一。DNA损伤普遍存在,而细胞也己进化产生复杂的DNA修复体系来修复损伤,保持基因组的完整性。研究证明,DNA修复基因的单核苷酸多态(SNP)具有不保守的氨基酸置换作用,基因一般氨基酸取代的变异体可影响蛋白质的功能、修复能力。个体的DNA修复能力则与其DNA修复基因的多态基因型有密切关系。DNA修复缺陷与一些DNA修复蛋白功能完全缺失的基因突变相关,而更多的则是通过基因的遗传多态导致修复功能的不同。X线修复交叉互补基因1(X-ray repair cross-complementing 1,XRCC1)是一种重要的DNA修复基因,参与DNA单链断裂和碱基损伤修复,位于人染色体19q13.2-13.3,编码区单核苷酸多态位点导致相应的氨基酸改变。本实验采用病例一对照研究的方法,提取样本基因组DNA,以等位基因特异性聚合酶链反应(allele specific polymerase chainreaction,AS-PCR)技术为基础分析目的基因XRCC1多态位点Arg194Trp、Arg280His和Arg399G1n的基因型分布频率,进而发现高危基因型,探讨其与系统性红斑狼疮发生及与临床表现、实验室指标的关联程度,旨在了解个体多态基因型,在系统性红斑狼疮发生的病因学机制中的作用,为高危人群的筛检和干预提供依据;同时其与临床表现和实验室指标的关联,对基因诊断个体化有导向作用。
目的:分析中国汉族人群SLE患者与正常对照人群中XRCC1基因单核苷酸多态性分布,探讨XRCC1基因单核苷酸多态性对SLE易感性的影响及与临床表现、实验室指标的关联程度。
方法:用AS-PCR方法,测定39例中国汉族SLE患者和40例中国汉族健康者的XRCC1多态位点Arg194Trp、Arg280His和Arg399G1n的SNP型别。
结果:(1)SLE组和正常对照组对比,XRCC1多态位点Arg399G1n等位基因和基因型频率分布具显著差异(P＜0.05)。XRCC1等位基因Arg399G1nGA+AA患病风险率增加[OR=3.92;95%CI(1.51-10.18)]。2,Arg194TrpCT+TT基因型在SLE患者出现血液损害的频率较低,在SLE患者出现SS-A抗体阳性频率较高。
结论:XRCC1等位基因Arg399G1n基因多态性与SLE发生有一定的相关性,XRCC1等位基因Arg399G1nGA+AA可能为SLE的易感基因型。XRCC1多态位点与SLE患者自身抗体的产生、血液系统损害具有一定的相关性。
Single nucleotide polymorphism(SNP) is defined as single base sequence disparity of genome DNA in certain colonia or normal individuals,which is the simplist and most extensive polymorphic type in genome of biosystem.Over 90%of the essential qualities reflection on genetic information of human gene polymorphism was due to SNP characterized as extensive distribution,large quantity and relative stability.The occurrence of SNP may lead to the change of protein sequence or conformation and SNP is considered to be critical to human body constitution resulting in individual variation in liability to certain disease and reaction to certain treatment.Nowadays,researcheres are making great efforts in the exploration of the background of human disease-associated genes,SNP become a hot spot due to its advantages in heredity research.
Systemic lupus erythematosus(SLE) is a chronic autoimmune disease characterized by the production of diverse autoantibodies, resulting in immune complex deposition and tissue and organ damage. From the perspective of immunology,SLE is the autoirnrnune response, against the many self-antigens,mainly nuelear antigens such as DNA, Protein and nuclear bodies and so on.DNA has been considered to be one of the most important.DNA repair system continuously monitor chromosome to protect the integrity of DNA.The single nucleotide polymorphisms of DNA repair genes have unconservative amino acid replacements,of which the mutants can change the function of protein, repair capability.The DNA repair capability of individual is close to the polymorphic genotypes.The defect of DNA repair capability is connected with the function deletion of DNA repair protein resulting from gene mutations,mostly with the different repair capability from genetic polymorphisms.The X-ray repair cross-complementing 1(XRCC1) plays a critical role in repair of single-strand breaks and base damage,and is located on human chromosome 19q13.2-13.3.In encoding area,single nucleotide polymorphism results in the corresponding change of amino acid.A case-control study was conducted to test the allele frequencies and genotype frequencies of XRCC1 Arg194Trp,Arg399Gln and Arg399Gln by AS-PCR,from which risk genotypes can be found.It can be helpful to analyze possible mechanism of systemic lupus erythematosus and their roles to discuss the association between the risk genotypes and systemic lupus erythematosus and the interaction between genotypes and clinical or laboratory feature,which can be used in studying the etiology of systemic lupus erythematosus.The relations between genotypes and clinical or laboratory feature,will provide an evidence for individual gene diagnosis.
Objective:To explore frequencies and single nucleotide polymorphisms distribution of XRCC1 gene,and analysis the susceptibility to systemic lupus erythematosus in Chinese Han population and the interaction between genotypes and clinical or laboratory feature.
Methods:allele specific polymerase chain reaction(AS-PCR)was used to comparatively study the SNP in XRCC1 Arg194Trp、Arg399Gln and Arg399Gln in 39 patients with SLE and 40 randomly selected,unrelated healthy controls of Chinese Han population.
Results:(1)Genotype and allele frequeneies of XRCC1 Arg399Gln were signifieantly different between the SLE cases and controls(P＜0.05), Arg399GInGA+AA was associate with the inereased risk of SLE [OR=3.92;95%CI(1.51-10.18)];(2) Hematological system damage ratio is lower in Arg194Trp CT+TT genotype SLE patients than the others. Anti SS-A antibody positive rate is increase in Arg194Trp CT+TT genptype SLE patients than the other.
Conclusion:Genotype and allele frequeneies of XRCC1 Arg399Gln polymorphism and the incidence of SLE have some relevance.The genotype Arg399Gln GA+AA possiblely is the susceptible gene of SLE. It is related between the SNP in XRCC1 Arg194Trp and autoantibody Production,hematological system damage in SLE Patients.
系统性红斑狼疮(systemic lupus erythematosus SLE)是一种慢性自身免疫性疾病,其特征表现为多种自身抗体产生并引起免疫复合物沉积导致多系统损伤,从免疫学角度,SLE是针对多种自身抗原,主要为核内抗原如:DNA、组蛋白和核小体等产生的自身免疫反应,其中DNA是最重要的抗原之一。DNA损伤普遍存在,而细胞也己进化产生复杂的DNA修复体系来修复损伤,保持基因组的完整性。研究证明,DNA修复基因的单核苷酸多态(SNP)具有不保守的氨基酸置换作用,基因一般氨基酸取代的变异体可影响蛋白质的功能、修复能力。个体的DNA修复能力则与其DNA修复基因的多态基因型有密切关系。DNA修复缺陷与一些DNA修复蛋白功能完全缺失的基因突变相关,而更多的则是通过基因的遗传多态导致修复功能的不同。X线修复交叉互补基因1(X-ray repair cross-complementing 1,XRCC1)是一种重要的DNA修复基因,参与DNA单链断裂和碱基损伤修复,位于人染色体19q13.2-13.3,编码区单核苷酸多态位点导致相应的氨基酸改变。本实验采用病例一对照研究的方法,提取样本基因组DNA,以等位基因特异性聚合酶链反应(allele specific polymerase chainreaction,AS-PCR)技术为基础分析目的基因XRCC1多态位点Arg194Trp、Arg280His和Arg399G1n的基因型分布频率,进而发现高危基因型,探讨其与系统性红斑狼疮发生及与临床表现、实验室指标的关联程度,旨在了解个体多态基因型,在系统性红斑狼疮发生的病因学机制中的作用,为高危人群的筛检和干预提供依据;同时其与临床表现和实验室指标的关联,对基因诊断个体化有导向作用。
目的:分析中国汉族人群SLE患者与正常对照人群中XRCC1基因单核苷酸多态性分布,探讨XRCC1基因单核苷酸多态性对SLE易感性的影响及与临床表现、实验室指标的关联程度。
方法:用AS-PCR方法,测定39例中国汉族SLE患者和40例中国汉族健康者的XRCC1多态位点Arg194Trp、Arg280His和Arg399G1n的SNP型别。
结果:(1)SLE组和正常对照组对比,XRCC1多态位点Arg399G1n等位基因和基因型频率分布具显著差异(P＜0.05)。XRCC1等位基因Arg399G1nGA+AA患病风险率增加[OR=3.92;95%CI(1.51-10.18)]。2,Arg194TrpCT+TT基因型在SLE患者出现血液损害的频率较低,在SLE患者出现SS-A抗体阳性频率较高。
结论:XRCC1等位基因Arg399G1n基因多态性与SLE发生有一定的相关性,XRCC1等位基因Arg399G1nGA+AA可能为SLE的易感基因型。XRCC1多态位点与SLE患者自身抗体的产生、血液系统损害具有一定的相关性。
Single nucleotide polymorphism(SNP) is defined as single base sequence disparity of genome DNA in certain colonia or normal individuals,which is the simplist and most extensive polymorphic type in genome of biosystem.Over 90%of the essential qualities reflection on genetic information of human gene polymorphism was due to SNP characterized as extensive distribution,large quantity and relative stability.The occurrence of SNP may lead to the change of protein sequence or conformation and SNP is considered to be critical to human body constitution resulting in individual variation in liability to certain disease and reaction to certain treatment.Nowadays,researcheres are making great efforts in the exploration of the background of human disease-associated genes,SNP become a hot spot due to its advantages in heredity research.
Systemic lupus erythematosus(SLE) is a chronic autoimmune disease characterized by the production of diverse autoantibodies, resulting in immune complex deposition and tissue and organ damage. From the perspective of immunology,SLE is the autoirnrnune response, against the many self-antigens,mainly nuelear antigens such as DNA, Protein and nuclear bodies and so on.DNA has been considered to be one of the most important.DNA repair system continuously monitor chromosome to protect the integrity of DNA.The single nucleotide polymorphisms of DNA repair genes have unconservative amino acid replacements,of which the mutants can change the function of protein, repair capability.The DNA repair capability of individual is close to the polymorphic genotypes.The defect of DNA repair capability is connected with the function deletion of DNA repair protein resulting from gene mutations,mostly with the different repair capability from genetic polymorphisms.The X-ray repair cross-complementing 1(XRCC1) plays a critical role in repair of single-strand breaks and base damage,and is located on human chromosome 19q13.2-13.3.In encoding area,single nucleotide polymorphism results in the corresponding change of amino acid.A case-control study was conducted to test the allele frequencies and genotype frequencies of XRCC1 Arg194Trp,Arg399Gln and Arg399Gln by AS-PCR,from which risk genotypes can be found.It can be helpful to analyze possible mechanism of systemic lupus erythematosus and their roles to discuss the association between the risk genotypes and systemic lupus erythematosus and the interaction between genotypes and clinical or laboratory feature,which can be used in studying the etiology of systemic lupus erythematosus.The relations between genotypes and clinical or laboratory feature,will provide an evidence for individual gene diagnosis.
Objective:To explore frequencies and single nucleotide polymorphisms distribution of XRCC1 gene,and analysis the susceptibility to systemic lupus erythematosus in Chinese Han population and the interaction between genotypes and clinical or laboratory feature.
Methods:allele specific polymerase chain reaction(AS-PCR)was used to comparatively study the SNP in XRCC1 Arg194Trp、Arg399Gln and Arg399Gln in 39 patients with SLE and 40 randomly selected,unrelated healthy controls of Chinese Han population.
Results:(1)Genotype and allele frequeneies of XRCC1 Arg399Gln were signifieantly different between the SLE cases and controls(P＜0.05), Arg399GInGA+AA was associate with the inereased risk of SLE [OR=3.92;95%CI(1.51-10.18)];(2) Hematological system damage ratio is lower in Arg194Trp CT+TT genotype SLE patients than the others. Anti SS-A antibody positive rate is increase in Arg194Trp CT+TT genptype SLE patients than the other.
Conclusion:Genotype and allele frequeneies of XRCC1 Arg399Gln polymorphism and the incidence of SLE have some relevance.The genotype Arg399Gln GA+AA possiblely is the susceptible gene of SLE. It is related between the SNP in XRCC1 Arg194Trp and autoantibody Production,hematological system damage in SLE Patients.
引文
[1]Brookes,AJ.The essence of SNP.[J].Gene,1999,234(2):177-186.
[2]Shork NJ,Fallin D,Lanchbury S,et al.Single nucleotide polymorphism and the future of genetic epidemiology.[J].Clin Genet,2000,58:250-264.
[3]Taillon Miller P,Gu Z,Li Q,et al.Overlapping genomic sequences:a treasure trove of single nucleo tide polymorphisms.[J].Genome Res,1998,8(7):748-754.
[4]Sachidanandam R,Weissman D,Schmidt SC,et al.A map of human genome sequence variation containing 1142 million single nucleotide polymorphisms.[J].Nature,2001,409(6822):928-933.
[5]包广宇,高春芳,孔宪涛,单核苷酸多态性的研究进展及其应用[J].国外医学遗学分册,2003,26(1):7-10.
[6]Lindahl T,Wood RD.Quality control by DNA repair[J].Science,1999,286(5446):1897-1905.
[7]Wood RD,Mitchell M,Sgouros J,et al.Human DNA repair genes [J].Science 2001,291(5507):1284-1289.
[8]Park JY,Park SH,Choi JE,et al.Polymorphisms of the DNA repair gene xeroderma pigmentosum group A and risk of p rimary lung cancer[J].Cancer Epidemio 1Biomarkers Prev,2002,11(10Pt1):993-997.
[9]Ronen A.Human DNA repair genes[J].Environt MolMut,2001,37(3): 241-283.
[10] Spitz MR,Wu X,Wang Y,et al. Modulati on of nucleotide excision repair capacity by XPD polymorphis ms in lung cancer patients [J].Cancer Res, 2001,61(4): 1354-1357.
[11] Thacker J,Zdzienicka MZ. The mammalian XRCC genes :their roles in DNA repair and genetic stability. [J].DNA Repair,2003,46(2): 655-72.
[12] Jane E. Lamerdin,Mishelle A.Montgomery ..comparison of the human and mouse XRCC1 Stephanie A,et al.Genomic sequence DNA repair gene regions.[J].Genomicsl995,25(2):547-554.
[13] Kubota Y,Horiuchi S. Independent roles of XRCCl's two BRCT motifs in recovery from methylation damage.[J].DNA Repai -r,2003,35(2):407-415.
[14] Larry H.Thompson,Mary Gstranded. Mutation Research,West. XRCC1 keeps DNA from getting stranded.[J].Mutation Research,2000,459(1):1-18.
[15] Gryk MR,structural Marintchev A,Mullen GP. Site-directed mutagen -esis analsis of the structual interaction of the single-strand-break repair protein,X-ray cross-complementing groupl,with DNA polymerase.[J].Nucleic Acids Res, 2003, 32(2):580-8.
[16] Caldecott McKeown CK, Tucker JD, et al. An interaction between the mammalian DNA repair protein XRCC1 and DNA ligaseIII. [J].Mol Cell Biol, 1994,14(1):68-76.
[17] Kubota Y,Nash RA,Klungland A,et al. Reconstitution of DNA base excision-repair with purified human proteins:interaction between DNA polymerase beta andthe XRCC1 protein.[J].EMBO,J,1996,15(23):6662-6670.
[18] John Thicker, Malgorzata Z. Zdzienicka. The mammalian XRCC genesaheir roles in DNA repair and genetic stability.[J].DNA repair,2003,2(6):655-672.
[19] K.W.Caldecott,S.Aoufouchi,P.Johnson,et al.XRCCl polypeptide interacts with DNA polymerise and possibly poly(ADP-ribose) polymerise,and DNA Ligase III is a novel molecular nick-sensor' inivtro. [J].Nucleic Acids Res, 1996,24(22): 4387-4394.
[20] C.J.Whitehouse,R.M.Taylor,A.et al.XRCCl stimulates human polynucleotide kniase activity at damaged DNA termini and accelerates DNA single strand break repair.[J]. Cell, 2001, 104(1):107-117.
[21] A.E.Vidal,S.Boiterx,LD.Hickson,et al. XRCC1 coordinates the initial and late stages of DNA abasic site repair through protein-protein interaction. [J]. EMBO J, 2001,20(22): 6530-6539.
[22] M.Masson, C.Niedergang, V.Schreiber,et al. XRCC1 is specifically associated with poly(ADP-ribose)polymerase and negatively regulates its activoity following DNA damage.[J]. Mol. Cell. Biol, 1998,18(6):3563-3571.
[23] Shen MR,Jones IM, MohrenweiserH,et al. Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. [J].Cancer Res,1998,58(4):604-608.
[24] Tuimala J,Szekely G,Gundy S,et al .Genetic polymorphisms of DNA repair and xenobiotic-metabolizing enzymes: role in mutagen sensitivity[J]. Carcinogenesis,2002,23 (6): 1003-1008.
[25] Lunn RM, Langl ois RG, Hsieh LL,et al.XRCC1 polym -orphisms:effects on alfatoxin B12 DNA adducts and glycophorin A variant frequency[J]. Cancer Res, 1999,59(3): 2557-256.
[26] OEFNER P J. Sequence variation and the biol ogical function of Genes :metho do logical and biological considerations[J] J Chromatogr B,2002,782 (1-2): 3-25.
[27] Gunderson,K.L.,Steemers,F.J.Ren,H.et al. Whole genome genoty -ping.[J].MethodsEnzymol,2006,410(6),359-76.
[28] Fan,J.B.,Chee,M.S. Gunderson,K.L. Highly parallel genomic assays.[J].Nat Rev Genet,47(2),632-44.
[29] Newton C R ,Graham A ,Heptinstall L E ,et al. Analysis of any poin -t mutation in DNA , the amplification refractory mutation system (ARMS). [J].Nucleic Acids Res ,1989 ,17(1) :2503-2516
[30] Risch N ,Merikangas K. The future of genetic studies of complex hu -man diseases. [J].Science , 1996 ,273(3) :1516-1517
[31] Glaab,W.E, SkoPek,et al. A novel assay for allelic diserimination th at combines the fluorogenic5s nuclease Polymerase chain reaetion(TaqMan) and mismatch amplification mutation assay。 [J].Mutat Res,410(2),359-376
[32] Eliana Drenkard ,Brent G Richter ,Steve Rozen ,et al . A simple procedure for the analysis of single nucleotide polymorphisms facilitates map-based cloning in A rabidopsis.[J]. Plant Physiology ,2000 ,124(3) :1483-1492.
[33] Little S. ARMS analysis of point mutatons. In Taylor G R.(ed.) Laboratory methods for the detection of mutations and polymorphisms in DNA. [JJ.CRC Press, 1997,35(2), 45-51.
[34] Zhang W, Gianibelli M C ,Ma W,et al. Identification of SNP and developent of allele-specific PCR markers for y -gliadin alleles in Triticum aestivum. [J].Theor Appl Genet,2003,107(4):130-138.
[35] Kwok S ,Kellogg D E ,Mckinney N ,et al. Effects of primer-temp late-mismatches on the polymerase chain reaction : human immuno deficiency virus type 1 model studies. [J].Nucleic Acids Res, 1990, 18(2):999-1005.
[36] Kwok S,Chang S Y,Sninsky J J,et al. A guide to the design and use of mismatched and degenerate primers. [J].PCR Methods Appl, 1994, 16(3):39-47
[37] Hayashi K,Hashimoto N,Daigen M,et al. Development of PCR- based SNP markers for rice blast resistance genes at the piz locus. T[J].heor Genet Appl,2004,108(1):1212-1220.
[38] Jeong S C and Saghai Maroof M A. Detection and genotyping of SNP tightly linked to two disease resistance loci,Rsvl and Rsvof soybean. [J].Plant Breeding Breeding,2004,123(3):305-310.
[39] Alderborn A, Kristofferson A,Hammerling U. Determination of single nucleotide polymorphisms by real2time pyrophosphate DNA sequencing. [J].Genome Res,2000,10(4):1249-1258.
[40] Livak KJ . Allelic discrimination using fluorogenic probes and the 50 nuclease assay. Genet Anal, 1999,14(2): 143-149.
[41] ShiraiT,NishimuraH,JiangY,etal.Genome screening for susceptibility loci in systemic lupus erythematosus[J].Am J Phannaeogenomies.2002,2(1):1-12.
[42] TsaoB.Update on human systemic lupus erythematosus genetise [J].Curr OpinRheumatol Rep.2004,16(5):513-521.
[43] ShenN,TsaoB.Current advanees in the human lupus genetise [J]. Curr Rheurnatol Rep.2004,6(5):391-398.
[44] Kyttaris V,Krishnan S,Tsokos G Systems biology in systemic lupus eythematosus:integrating genes,biology and immune function [J]. Autoimmunlty.2006,39(8):705-709.
[45] Fairhurst A,Wandstrat A,Wakeland E.Systemic lupus erythematosus -:multiple immunological Phenotypes in complex genetic disease[J].Ady Immuno2006,92(1):1-69.
[46] Thompson LH,Brookman KW,Jones NJ ,et al.molecular cloning of-the human XRCC1 gene,which corrects defective DNA strand brea -k repair and sister chromatid exchange[J].Mol Cell Biol, 1990,10 (2):6160
[47] Thompson LH,West MG.XRCC1 keeps DNA from getting strnded [J].MutatRes,2000,459(1):1
[48] Shen MR,Jones IM,Mohrenweiser H,et al.Nonconservative acid su -bstitution variants exist at polymorphic frequency in DNA repair genes in healthy human[J].Cancer Res,1998,58(3):604
[49] Wang Y,Spitz MR,Zhu Y,et al.From genotype to phenotype: correla -ting XRCC1 polymorphisms with mutagen sensitivity[J]. DNA Repair(Amst)2003,2(1):901
[50] Li Y,Marion MJ,Rundle A,et al.A common polymorphism in XRCC-1 as a biomarker of susceptibility for chemically induced genetic damage[J].Biomakers 2003,15(80:408
[51] Waris, G, Alam, K. Immunogenicity of superoxide radical modified -DNA: studies on induced antibodies and SLE anti-DNA autoantibo -dies. Life Sci 2004; 75(22): 2633-2642.
[52] Evans, MD,Cooke, eta,. Aberrant processing of oxidative DNA da -mage in systemic lupus erythematosus. [J] Biochem Biophys Res Commun 2000; 273(3): 894-898.
[53] Mc Connell,JR,Crockard,etal.Neutrophils from systemic lupus eryth -ematosus patients demonstrate increased nuclear DNA damage. [J]Clin Exp Rheumatol 2002; 20(5): 653-660
[54] McCurdy, D, Tai,etal. Delayed repair of DNA damage by ionizing radiation in cells from patients with juvenile systemic lupus erythem -atosus and rheumatoid arthritis. [J]Radiat Res 1997; 147(1): 48-54.
[55] Hur, JW, Sung YK, Shin HD, et al. Poly(ADP-ribose) polymerase (PARP) polymorphisms associated with nephritis and arthritis in systemic lupus erythematosus. [J]. Rheumatology (Oxford), 2006;45(6):711-717.
[56] Bassi CL, DJ Xavier DJ, GM Palomino GM, et al. Eefficiency of the DNA repair and polymorphisms of the XRCC1, XRCC3 and XRCC4 DNA repair genes in systemic lupus erythematosus[J].Lupus,2008;17(11):988-995.
[57] Y-J Lin, L Wan,C-M Huang,etal. Polymorphisms in the DNA repair gene XRCC1 and associations with systemic lupus erythematosus risk in the Taiwanese Han Chinese population.[J]. Lupus. 2009;18(14), 1246-1251
[1]LID,Firozi PF,WangLE,et al.Sensitivity to DNA damage induced by benzo(a) pyrene diol epoxide and risk of lung cancer:a case control analysis[J].Cancer Res,2001,61(4):1445-1452
[2]Wood RD,Mitchell M,Sgouros J,et al.Human DNA repair genes[J].Science,2001,291(5507):1284-1289.
[3]Savas S,Kim DY,Ahmad MF,et al.Identifying functional genetic variants in DNA repair pathway using protein conservation analysis[J].Cancer Epidemiol Bi omarkers Prev,2004,13(5):801 - 807.
[4]Brooker AJ.The essence of SNP.[J].Gene,1999,234(2):177-186.2
[5]Shork NJ,Fallin D,Lanchbury S,et al.Single nucleotide polymorphism and t he future of genetic epidemiology.[J].Clin Genet,2000,58:250-264.
[6]Taillon2Miller P,Gu Z,Li Q,et al.Overlapping genomic sequences:a treasure trove of single nucleotide polymorphisms.[J].Genome Res,1998,8(7):748-754.
[7]Sachidanandam R,Weissman D,Schmidt SC,et al.A map of human genome sequence variation containing 1142 million single nucleotide polymorphisms.[J].Nature,2001,409(6822):928-933.
[8]包广宇,高春芳,孔宪涛.单核苷酸多态性的研究进展及其应用.[J].国外医学遗传学分册,2003,26(1):7-10.
[9]Thacker J,Zdzienicka MZ.The mammalian XRCC genes:their roles in DNA repair and genetic stability.[J].DNA Repair,2003,2(65):52-72.
[10]Thompson LH,Brookman KW,James NJ,et al.Molecular cloning of the human XRCC1 gene,which correc;ts defective DNA strand break repair and sister chromatid exchange[J].Mol Cell Biol,1990,10(12):6160-6171.
[11]Thompson LH,Bachinski LL,Stallings RL,et al.Complementation of repair gene mutations on the hemizygous chromosome 9 in CHO:a third repair gene on human chromosome 19[J].Genomics,1989,5(4):670-679
[12]Barrows LR,Paxton MB,Kennedy KA,et al.Thompson LH.Characterization of revertants of the CHO EM9 mutant arising during DNA transfection[J].Carcinogenesis,1991,12(5):805-811
[13]Kubota Y,Horiuchi S.Independent roles of XRCC 1 's two BRCT motifs in recovery from methylation damage.[J]DNA Repair,2003,24(07):407-415.
[14]Thornton K,Forstner M,Shen MR,et al.Purification,characterization and crystallization of the Distal BRCT Domain of the human XRCC1DNA repair[J].protein.Protein Expr Purif,1999,16(2):236-242.
[15]Thompson LH,West MG.XRCC 1 keeps DNA from getting stranded.[J].Mutat Res,2000,459(1):1 218-222
[16]Schreiber V,Ame JC,Dolle P,et al.Poly(ADP-ribose) polymerase (PARP) is required for efficient base exicion DNA repair in association with PARP 21 and XRCC 1.J BiolChem,2002,277(28):228-236.
[17]Hao B,Wang H,Zhou K,et al.Identificati on of genetic variants in base excision repair pathway and their ass ociationswith risk of esophageal squamous cell carcinoma[J].Cancer Res,2004,64(12):4378-4384.
[18]夏寿萱,主编.放射生物学[M].北京:军事医学科学出版社,1998.105-128.
[19]Khosravi R,Maya R,Got tlieb T.Radial ATM-dependant phosphorylation of MDM2 precedes p53 accumulation in response to DNA damage[J].BullAcad Natl Med,1998,182(6):33-46.
[20]Irena S.Monitoring and signaling of Radiation-induced damage in mammalian cells [J]. Radiat Res ,1998 , 150(4): 92-101.
[21]Thompsonl H,Brookman K W,Jones N J,et al.Molecular cloning of the human XRCC1 gene,which corrects defective DNA strand-break repair . and , sister chromatid exchange[J].Mol Cell Biol, 1990,10(2):6160-6171.
[22]Kubotay,Nashr A,Klungland A,et al.Reconstitution of DNA base excision repair with purified human proteins: interaction between DNA polymerase beta and the XRCC1 protein[J].EMBO J,1996,15(2):6662-6670.
[23]Nocentin S. Rejoining kinetics of DNA single and double-strand breaks in normal and DNA ligase-deficient cells after exposure to ultraviolet C and gamma radiation: an evaluation of ligating activities involved in different DNA repair processes[J].Radiat Res,1999,151(5): 423-432.
[24]Schwartz J L, Giovatanzz S, Weichesl Baumr R. Recovery from sublethal and potentially lethal damage in an X-ray-sensitive CHO cell[J]. Radiat Res,1987,111(3):58-67.
[25]Vanankerern S C,Murrayd,Meynre. Induction and .rejoining of gamma-ray-induced DNA single- and double-strand breaks in Chinese hamster AA8 cells and in two radiosensitive clones[J].Radiat Res, 1988,116(6): 511-525.
[26]Cldecott K W. XRCC1 and DNA strand break repair[J].DNA Repair,2003,2(1): 955-969.
[27]Zdzienicka M Z,Vander Schans G P,Natarajan A T,et al.A Chinese hamster ovary cell mutant(EM-C11)with sensitivity to simple alkylating agent and a very high level of sister chromatid exchanges[J]. Mutagenesis,1992,7(4): 265-269.
[28]Shen MR, Hung RJ,Brennan P, et al . Polymor phisms of the DNA repair genes XRCC1, XRCC3, XPD, interaction with environmental exposures, and bladder cancer risk in a case-control study in northern Italy [J].Cancer Ep idemi ol Biomarkers & Prev, 2003, 12(3): 1234-1240.
[29]Mariana C. Stern, David M. Umbach, Carla H. van Gils, et al . DNA Repair Gene XRCC1 Polymor phisms, Smoking, and Bladder Cancer Risk[J]. Cancer Ep idemiol ogy Biomarkers & Prevention, 2001, 92(10): 125-131.
[30]Kiyohara C , Otsu A , Shirakawa T, et al . Genetic polymorphisms and lung cancer susceptibility : a review. [J].Lung Cancer, 2002,37(2): 241-56.
[31]Divine KK, Gilliland FD, Crowell RE,et al.The XRCC1 399 glutamine allele is a risk factor for adenocarinoma of the lung.[J].Mutat Res,2001 ,461(4): 273-280.
[32]Lee J.M,Lee Y.C,Yang S.Y,et al. Genetic polymorphisms of XRCC1 and risk of the esophageal cancer. [J].Int J Cancer, 2001,95(6):240-246.
[33]Shen H, Xu Y, Qian Y, et al. Polymorphisms of the DNA repair gene XRCC1 and risk of gastric cancer in a Chinese population.[J].Int Jcancer,2000,88(3):601-606.
[34]Abdel-Rahman S.Z,Soliman A.S,Bondy M.L,et al.Inheritance of the 194Trp and the 399G1n variant alleles of the DNA repair gene XRCC 1 are associated with increased risk of early-onset colorectal carcinoma in Egypt.Cancer Lett,[J].2000,159(3):79-86.
[35]Norppah.Genetic polymorphlsms and ehroamsome damnge[J].Int J Hyg Environ Health,2001,204(1):31-38.
[36]Tuimala J,Szekely G,Gundy S,et al.Genetic polymorphismy of DNA repair and xenobiotic-metabolizing enzymes:role in mutagen senitivity [J].Carcinogenesis,2002,23(6):1003-1008.
[37]Leng S,Cheng J,Pan Z,et al.Association between XRCC1 and ERCC2polymorphisms and DNA damage in peripheral blood lymphocyte among coke oven workers.[J].Biomarkers,2004,9(4-5):395-406
[38]Tuimala J,Szekely G,Gundy S,et al.Genetic polymorphisms of DNA repair and xenobintic-metabolizing enzymes:role in mutagen sensitivi -ty.[J].Carcinogenesis,2002,23(6):1003-1008
[39]Batnasinghe D,Yao SX,Tangrea JA,et al.Polymorphisms of the DNA repair gene XRCC1 and lung cancer risk.[J].Cancer Epidemiol Biomarkers Prey,2001,10(3):119-123
[40]蒋守芳,于立群,冷曙光,等.甲醛暴露工人XRCC1基因多态性与DNA损伤的关系研究.[J]卫生研究,2006,35(6):675-677.
[41]仇玉兰 朱守民 刘静夏,等.氯乙烯致染色体损伤的易感性与APE1和XRCC1基因多态关系研究[J]卫生研究,2007,36(2):132-136.
[42]张忠彬,曹多志,万俊香,等.XRCC1基因多态性与慢性苯中毒易感性关系探讨[J].卫生研究,2004,33(5):521-526.
[43]陆春花,何晓庆,杨泽云,等.XRCC1基因多态性与铅中毒易感性关系的研究[J].交通医学,2006,20(4):379-381
[44]Tan EM.Antinuclear antibodies:diagnostic markers for autoim -mune diseases and probes for cell biology.[J].Adv Immunol 1989;44(5):93-151.
[45]C.Schild-Poulter,A.Su,A.Shih,etal.Association of autoantibodies with Ku and DNA repair proteins in connective tissue diseases[J].Rheumatology 2008;47(2);165-171.polymorphisms
[46]CL Bassi,DJ Xavier,GM Palomino,etal.Efficiency of the DNA repair and polymorphisms of the XRCC1,XRCC3 and XRCC4 DNA repair genes in systemic lupus erythematosus[J].Lupus.2008;17(11);988-995
[47]Hur,JW,Sung,etal.Poly(ADP-ribose) polymerase(PARP) polymorph -isms associated with nephritis and arthritis in systemic lupus erythemato -sus.[J].Rheumatology(Oxford) 2006;45(6):711-717.
[48]Y-J Lin,L Wan,C-M Huang,etal.Polymorphisms in the DNA repair gene XRCC1 and associations with systemic lupus erythematosus risk in the Taiwanese Han Chinese population.[J].Lupus.2009;18(14),1246- 1251.
[49]马文豪,覃瑞,滕少康,等.DNA修复基因XRCC1-Arg399Gln多态位点与壮族甲状腺相关眼病的相关性分析.[J].基础医学与临床2009;9(3):711-717.
[2]Shork NJ,Fallin D,Lanchbury S,et al.Single nucleotide polymorphism and the future of genetic epidemiology.[J].Clin Genet,2000,58:250-264.
[3]Taillon Miller P,Gu Z,Li Q,et al.Overlapping genomic sequences:a treasure trove of single nucleo tide polymorphisms.[J].Genome Res,1998,8(7):748-754.
[4]Sachidanandam R,Weissman D,Schmidt SC,et al.A map of human genome sequence variation containing 1142 million single nucleotide polymorphisms.[J].Nature,2001,409(6822):928-933.
[5]包广宇,高春芳,孔宪涛,单核苷酸多态性的研究进展及其应用[J].国外医学遗学分册,2003,26(1):7-10.
[6]Lindahl T,Wood RD.Quality control by DNA repair[J].Science,1999,286(5446):1897-1905.
[7]Wood RD,Mitchell M,Sgouros J,et al.Human DNA repair genes [J].Science 2001,291(5507):1284-1289.
[8]Park JY,Park SH,Choi JE,et al.Polymorphisms of the DNA repair gene xeroderma pigmentosum group A and risk of p rimary lung cancer[J].Cancer Epidemio 1Biomarkers Prev,2002,11(10Pt1):993-997.
[9]Ronen A.Human DNA repair genes[J].Environt MolMut,2001,37(3): 241-283.
[10] Spitz MR,Wu X,Wang Y,et al. Modulati on of nucleotide excision repair capacity by XPD polymorphis ms in lung cancer patients [J].Cancer Res, 2001,61(4): 1354-1357.
[11] Thacker J,Zdzienicka MZ. The mammalian XRCC genes :their roles in DNA repair and genetic stability. [J].DNA Repair,2003,46(2): 655-72.
[12] Jane E. Lamerdin,Mishelle A.Montgomery ..comparison of the human and mouse XRCC1 Stephanie A,et al.Genomic sequence DNA repair gene regions.[J].Genomicsl995,25(2):547-554.
[13] Kubota Y,Horiuchi S. Independent roles of XRCCl's two BRCT motifs in recovery from methylation damage.[J].DNA Repai -r,2003,35(2):407-415.
[14] Larry H.Thompson,Mary Gstranded. Mutation Research,West. XRCC1 keeps DNA from getting stranded.[J].Mutation Research,2000,459(1):1-18.
[15] Gryk MR,structural Marintchev A,Mullen GP. Site-directed mutagen -esis analsis of the structual interaction of the single-strand-break repair protein,X-ray cross-complementing groupl,with DNA polymerase.[J].Nucleic Acids Res, 2003, 32(2):580-8.
[16] Caldecott McKeown CK, Tucker JD, et al. An interaction between the mammalian DNA repair protein XRCC1 and DNA ligaseIII. [J].Mol Cell Biol, 1994,14(1):68-76.
[17] Kubota Y,Nash RA,Klungland A,et al. Reconstitution of DNA base excision-repair with purified human proteins:interaction between DNA polymerase beta andthe XRCC1 protein.[J].EMBO,J,1996,15(23):6662-6670.
[18] John Thicker, Malgorzata Z. Zdzienicka. The mammalian XRCC genesaheir roles in DNA repair and genetic stability.[J].DNA repair,2003,2(6):655-672.
[19] K.W.Caldecott,S.Aoufouchi,P.Johnson,et al.XRCCl polypeptide interacts with DNA polymerise and possibly poly(ADP-ribose) polymerise,and DNA Ligase III is a novel molecular nick-sensor' inivtro. [J].Nucleic Acids Res, 1996,24(22): 4387-4394.
[20] C.J.Whitehouse,R.M.Taylor,A.et al.XRCCl stimulates human polynucleotide kniase activity at damaged DNA termini and accelerates DNA single strand break repair.[J]. Cell, 2001, 104(1):107-117.
[21] A.E.Vidal,S.Boiterx,LD.Hickson,et al. XRCC1 coordinates the initial and late stages of DNA abasic site repair through protein-protein interaction. [J]. EMBO J, 2001,20(22): 6530-6539.
[22] M.Masson, C.Niedergang, V.Schreiber,et al. XRCC1 is specifically associated with poly(ADP-ribose)polymerase and negatively regulates its activoity following DNA damage.[J]. Mol. Cell. Biol, 1998,18(6):3563-3571.
[23] Shen MR,Jones IM, MohrenweiserH,et al. Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. [J].Cancer Res,1998,58(4):604-608.
[24] Tuimala J,Szekely G,Gundy S,et al .Genetic polymorphisms of DNA repair and xenobiotic-metabolizing enzymes: role in mutagen sensitivity[J]. Carcinogenesis,2002,23 (6): 1003-1008.
[25] Lunn RM, Langl ois RG, Hsieh LL,et al.XRCC1 polym -orphisms:effects on alfatoxin B12 DNA adducts and glycophorin A variant frequency[J]. Cancer Res, 1999,59(3): 2557-256.
[26] OEFNER P J. Sequence variation and the biol ogical function of Genes :metho do logical and biological considerations[J] J Chromatogr B,2002,782 (1-2): 3-25.
[27] Gunderson,K.L.,Steemers,F.J.Ren,H.et al. Whole genome genoty -ping.[J].MethodsEnzymol,2006,410(6),359-76.
[28] Fan,J.B.,Chee,M.S. Gunderson,K.L. Highly parallel genomic assays.[J].Nat Rev Genet,47(2),632-44.
[29] Newton C R ,Graham A ,Heptinstall L E ,et al. Analysis of any poin -t mutation in DNA , the amplification refractory mutation system (ARMS). [J].Nucleic Acids Res ,1989 ,17(1) :2503-2516
[30] Risch N ,Merikangas K. The future of genetic studies of complex hu -man diseases. [J].Science , 1996 ,273(3) :1516-1517
[31] Glaab,W.E, SkoPek,et al. A novel assay for allelic diserimination th at combines the fluorogenic5s nuclease Polymerase chain reaetion(TaqMan) and mismatch amplification mutation assay。 [J].Mutat Res,410(2),359-376
[32] Eliana Drenkard ,Brent G Richter ,Steve Rozen ,et al . A simple procedure for the analysis of single nucleotide polymorphisms facilitates map-based cloning in A rabidopsis.[J]. Plant Physiology ,2000 ,124(3) :1483-1492.
[33] Little S. ARMS analysis of point mutatons. In Taylor G R.(ed.) Laboratory methods for the detection of mutations and polymorphisms in DNA. [JJ.CRC Press, 1997,35(2), 45-51.
[34] Zhang W, Gianibelli M C ,Ma W,et al. Identification of SNP and developent of allele-specific PCR markers for y -gliadin alleles in Triticum aestivum. [J].Theor Appl Genet,2003,107(4):130-138.
[35] Kwok S ,Kellogg D E ,Mckinney N ,et al. Effects of primer-temp late-mismatches on the polymerase chain reaction : human immuno deficiency virus type 1 model studies. [J].Nucleic Acids Res, 1990, 18(2):999-1005.
[36] Kwok S,Chang S Y,Sninsky J J,et al. A guide to the design and use of mismatched and degenerate primers. [J].PCR Methods Appl, 1994, 16(3):39-47
[37] Hayashi K,Hashimoto N,Daigen M,et al. Development of PCR- based SNP markers for rice blast resistance genes at the piz locus. T[J].heor Genet Appl,2004,108(1):1212-1220.
[38] Jeong S C and Saghai Maroof M A. Detection and genotyping of SNP tightly linked to two disease resistance loci,Rsvl and Rsvof soybean. [J].Plant Breeding Breeding,2004,123(3):305-310.
[39] Alderborn A, Kristofferson A,Hammerling U. Determination of single nucleotide polymorphisms by real2time pyrophosphate DNA sequencing. [J].Genome Res,2000,10(4):1249-1258.
[40] Livak KJ . Allelic discrimination using fluorogenic probes and the 50 nuclease assay. Genet Anal, 1999,14(2): 143-149.
[41] ShiraiT,NishimuraH,JiangY,etal.Genome screening for susceptibility loci in systemic lupus erythematosus[J].Am J Phannaeogenomies.2002,2(1):1-12.
[42] TsaoB.Update on human systemic lupus erythematosus genetise [J].Curr OpinRheumatol Rep.2004,16(5):513-521.
[43] ShenN,TsaoB.Current advanees in the human lupus genetise [J]. Curr Rheurnatol Rep.2004,6(5):391-398.
[44] Kyttaris V,Krishnan S,Tsokos G Systems biology in systemic lupus eythematosus:integrating genes,biology and immune function [J]. Autoimmunlty.2006,39(8):705-709.
[45] Fairhurst A,Wandstrat A,Wakeland E.Systemic lupus erythematosus -:multiple immunological Phenotypes in complex genetic disease[J].Ady Immuno2006,92(1):1-69.
[46] Thompson LH,Brookman KW,Jones NJ ,et al.molecular cloning of-the human XRCC1 gene,which corrects defective DNA strand brea -k repair and sister chromatid exchange[J].Mol Cell Biol, 1990,10 (2):6160
[47] Thompson LH,West MG.XRCC1 keeps DNA from getting strnded [J].MutatRes,2000,459(1):1
[48] Shen MR,Jones IM,Mohrenweiser H,et al.Nonconservative acid su -bstitution variants exist at polymorphic frequency in DNA repair genes in healthy human[J].Cancer Res,1998,58(3):604
[49] Wang Y,Spitz MR,Zhu Y,et al.From genotype to phenotype: correla -ting XRCC1 polymorphisms with mutagen sensitivity[J]. DNA Repair(Amst)2003,2(1):901
[50] Li Y,Marion MJ,Rundle A,et al.A common polymorphism in XRCC-1 as a biomarker of susceptibility for chemically induced genetic damage[J].Biomakers 2003,15(80:408
[51] Waris, G, Alam, K. Immunogenicity of superoxide radical modified -DNA: studies on induced antibodies and SLE anti-DNA autoantibo -dies. Life Sci 2004; 75(22): 2633-2642.
[52] Evans, MD,Cooke, eta,. Aberrant processing of oxidative DNA da -mage in systemic lupus erythematosus. [J] Biochem Biophys Res Commun 2000; 273(3): 894-898.
[53] Mc Connell,JR,Crockard,etal.Neutrophils from systemic lupus eryth -ematosus patients demonstrate increased nuclear DNA damage. [J]Clin Exp Rheumatol 2002; 20(5): 653-660
[54] McCurdy, D, Tai,etal. Delayed repair of DNA damage by ionizing radiation in cells from patients with juvenile systemic lupus erythem -atosus and rheumatoid arthritis. [J]Radiat Res 1997; 147(1): 48-54.
[55] Hur, JW, Sung YK, Shin HD, et al. Poly(ADP-ribose) polymerase (PARP) polymorphisms associated with nephritis and arthritis in systemic lupus erythematosus. [J]. Rheumatology (Oxford), 2006;45(6):711-717.
[56] Bassi CL, DJ Xavier DJ, GM Palomino GM, et al. Eefficiency of the DNA repair and polymorphisms of the XRCC1, XRCC3 and XRCC4 DNA repair genes in systemic lupus erythematosus[J].Lupus,2008;17(11):988-995.
[57] Y-J Lin, L Wan,C-M Huang,etal. Polymorphisms in the DNA repair gene XRCC1 and associations with systemic lupus erythematosus risk in the Taiwanese Han Chinese population.[J]. Lupus. 2009;18(14), 1246-1251
[1]LID,Firozi PF,WangLE,et al.Sensitivity to DNA damage induced by benzo(a) pyrene diol epoxide and risk of lung cancer:a case control analysis[J].Cancer Res,2001,61(4):1445-1452
[2]Wood RD,Mitchell M,Sgouros J,et al.Human DNA repair genes[J].Science,2001,291(5507):1284-1289.
[3]Savas S,Kim DY,Ahmad MF,et al.Identifying functional genetic variants in DNA repair pathway using protein conservation analysis[J].Cancer Epidemiol Bi omarkers Prev,2004,13(5):801 - 807.
[4]Brooker AJ.The essence of SNP.[J].Gene,1999,234(2):177-186.2
[5]Shork NJ,Fallin D,Lanchbury S,et al.Single nucleotide polymorphism and t he future of genetic epidemiology.[J].Clin Genet,2000,58:250-264.
[6]Taillon2Miller P,Gu Z,Li Q,et al.Overlapping genomic sequences:a treasure trove of single nucleotide polymorphisms.[J].Genome Res,1998,8(7):748-754.
[7]Sachidanandam R,Weissman D,Schmidt SC,et al.A map of human genome sequence variation containing 1142 million single nucleotide polymorphisms.[J].Nature,2001,409(6822):928-933.
[8]包广宇,高春芳,孔宪涛.单核苷酸多态性的研究进展及其应用.[J].国外医学遗传学分册,2003,26(1):7-10.
[9]Thacker J,Zdzienicka MZ.The mammalian XRCC genes:their roles in DNA repair and genetic stability.[J].DNA Repair,2003,2(65):52-72.
[10]Thompson LH,Brookman KW,James NJ,et al.Molecular cloning of the human XRCC1 gene,which correc;ts defective DNA strand break repair and sister chromatid exchange[J].Mol Cell Biol,1990,10(12):6160-6171.
[11]Thompson LH,Bachinski LL,Stallings RL,et al.Complementation of repair gene mutations on the hemizygous chromosome 9 in CHO:a third repair gene on human chromosome 19[J].Genomics,1989,5(4):670-679
[12]Barrows LR,Paxton MB,Kennedy KA,et al.Thompson LH.Characterization of revertants of the CHO EM9 mutant arising during DNA transfection[J].Carcinogenesis,1991,12(5):805-811
[13]Kubota Y,Horiuchi S.Independent roles of XRCC 1 's two BRCT motifs in recovery from methylation damage.[J]DNA Repair,2003,24(07):407-415.
[14]Thornton K,Forstner M,Shen MR,et al.Purification,characterization and crystallization of the Distal BRCT Domain of the human XRCC1DNA repair[J].protein.Protein Expr Purif,1999,16(2):236-242.
[15]Thompson LH,West MG.XRCC 1 keeps DNA from getting stranded.[J].Mutat Res,2000,459(1):1 218-222
[16]Schreiber V,Ame JC,Dolle P,et al.Poly(ADP-ribose) polymerase (PARP) is required for efficient base exicion DNA repair in association with PARP 21 and XRCC 1.J BiolChem,2002,277(28):228-236.
[17]Hao B,Wang H,Zhou K,et al.Identificati on of genetic variants in base excision repair pathway and their ass ociationswith risk of esophageal squamous cell carcinoma[J].Cancer Res,2004,64(12):4378-4384.
[18]夏寿萱,主编.放射生物学[M].北京:军事医学科学出版社,1998.105-128.
[19]Khosravi R,Maya R,Got tlieb T.Radial ATM-dependant phosphorylation of MDM2 precedes p53 accumulation in response to DNA damage[J].BullAcad Natl Med,1998,182(6):33-46.
[20]Irena S.Monitoring and signaling of Radiation-induced damage in mammalian cells [J]. Radiat Res ,1998 , 150(4): 92-101.
[21]Thompsonl H,Brookman K W,Jones N J,et al.Molecular cloning of the human XRCC1 gene,which corrects defective DNA strand-break repair . and , sister chromatid exchange[J].Mol Cell Biol, 1990,10(2):6160-6171.
[22]Kubotay,Nashr A,Klungland A,et al.Reconstitution of DNA base excision repair with purified human proteins: interaction between DNA polymerase beta and the XRCC1 protein[J].EMBO J,1996,15(2):6662-6670.
[23]Nocentin S. Rejoining kinetics of DNA single and double-strand breaks in normal and DNA ligase-deficient cells after exposure to ultraviolet C and gamma radiation: an evaluation of ligating activities involved in different DNA repair processes[J].Radiat Res,1999,151(5): 423-432.
[24]Schwartz J L, Giovatanzz S, Weichesl Baumr R. Recovery from sublethal and potentially lethal damage in an X-ray-sensitive CHO cell[J]. Radiat Res,1987,111(3):58-67.
[25]Vanankerern S C,Murrayd,Meynre. Induction and .rejoining of gamma-ray-induced DNA single- and double-strand breaks in Chinese hamster AA8 cells and in two radiosensitive clones[J].Radiat Res, 1988,116(6): 511-525.
[26]Cldecott K W. XRCC1 and DNA strand break repair[J].DNA Repair,2003,2(1): 955-969.
[27]Zdzienicka M Z,Vander Schans G P,Natarajan A T,et al.A Chinese hamster ovary cell mutant(EM-C11)with sensitivity to simple alkylating agent and a very high level of sister chromatid exchanges[J]. Mutagenesis,1992,7(4): 265-269.
[28]Shen MR, Hung RJ,Brennan P, et al . Polymor phisms of the DNA repair genes XRCC1, XRCC3, XPD, interaction with environmental exposures, and bladder cancer risk in a case-control study in northern Italy [J].Cancer Ep idemi ol Biomarkers & Prev, 2003, 12(3): 1234-1240.
[29]Mariana C. Stern, David M. Umbach, Carla H. van Gils, et al . DNA Repair Gene XRCC1 Polymor phisms, Smoking, and Bladder Cancer Risk[J]. Cancer Ep idemiol ogy Biomarkers & Prevention, 2001, 92(10): 125-131.
[30]Kiyohara C , Otsu A , Shirakawa T, et al . Genetic polymorphisms and lung cancer susceptibility : a review. [J].Lung Cancer, 2002,37(2): 241-56.
[31]Divine KK, Gilliland FD, Crowell RE,et al.The XRCC1 399 glutamine allele is a risk factor for adenocarinoma of the lung.[J].Mutat Res,2001 ,461(4): 273-280.
[32]Lee J.M,Lee Y.C,Yang S.Y,et al. Genetic polymorphisms of XRCC1 and risk of the esophageal cancer. [J].Int J Cancer, 2001,95(6):240-246.
[33]Shen H, Xu Y, Qian Y, et al. Polymorphisms of the DNA repair gene XRCC1 and risk of gastric cancer in a Chinese population.[J].Int Jcancer,2000,88(3):601-606.
[34]Abdel-Rahman S.Z,Soliman A.S,Bondy M.L,et al.Inheritance of the 194Trp and the 399G1n variant alleles of the DNA repair gene XRCC 1 are associated with increased risk of early-onset colorectal carcinoma in Egypt.Cancer Lett,[J].2000,159(3):79-86.
[35]Norppah.Genetic polymorphlsms and ehroamsome damnge[J].Int J Hyg Environ Health,2001,204(1):31-38.
[36]Tuimala J,Szekely G,Gundy S,et al.Genetic polymorphismy of DNA repair and xenobiotic-metabolizing enzymes:role in mutagen senitivity [J].Carcinogenesis,2002,23(6):1003-1008.
[37]Leng S,Cheng J,Pan Z,et al.Association between XRCC1 and ERCC2polymorphisms and DNA damage in peripheral blood lymphocyte among coke oven workers.[J].Biomarkers,2004,9(4-5):395-406
[38]Tuimala J,Szekely G,Gundy S,et al.Genetic polymorphisms of DNA repair and xenobintic-metabolizing enzymes:role in mutagen sensitivi -ty.[J].Carcinogenesis,2002,23(6):1003-1008
[39]Batnasinghe D,Yao SX,Tangrea JA,et al.Polymorphisms of the DNA repair gene XRCC1 and lung cancer risk.[J].Cancer Epidemiol Biomarkers Prey,2001,10(3):119-123
[40]蒋守芳,于立群,冷曙光,等.甲醛暴露工人XRCC1基因多态性与DNA损伤的关系研究.[J]卫生研究,2006,35(6):675-677.
[41]仇玉兰 朱守民 刘静夏,等.氯乙烯致染色体损伤的易感性与APE1和XRCC1基因多态关系研究[J]卫生研究,2007,36(2):132-136.
[42]张忠彬,曹多志,万俊香,等.XRCC1基因多态性与慢性苯中毒易感性关系探讨[J].卫生研究,2004,33(5):521-526.
[43]陆春花,何晓庆,杨泽云,等.XRCC1基因多态性与铅中毒易感性关系的研究[J].交通医学,2006,20(4):379-381
[44]Tan EM.Antinuclear antibodies:diagnostic markers for autoim -mune diseases and probes for cell biology.[J].Adv Immunol 1989;44(5):93-151.
[45]C.Schild-Poulter,A.Su,A.Shih,etal.Association of autoantibodies with Ku and DNA repair proteins in connective tissue diseases[J].Rheumatology 2008;47(2);165-171.polymorphisms
[46]CL Bassi,DJ Xavier,GM Palomino,etal.Efficiency of the DNA repair and polymorphisms of the XRCC1,XRCC3 and XRCC4 DNA repair genes in systemic lupus erythematosus[J].Lupus.2008;17(11);988-995
[47]Hur,JW,Sung,etal.Poly(ADP-ribose) polymerase(PARP) polymorph -isms associated with nephritis and arthritis in systemic lupus erythemato -sus.[J].Rheumatology(Oxford) 2006;45(6):711-717.
[48]Y-J Lin,L Wan,C-M Huang,etal.Polymorphisms in the DNA repair gene XRCC1 and associations with systemic lupus erythematosus risk in the Taiwanese Han Chinese population.[J].Lupus.2009;18(14),1246- 1251.
[49]马文豪,覃瑞,滕少康,等.DNA修复基因XRCC1-Arg399Gln多态位点与壮族甲状腺相关眼病的相关性分析.[J].基础医学与临床2009;9(3):711-717.