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巢式聚合酶链反应检测人类DNA修复基因:ERCC2/XPD exon 6突变

Detection of DNA Repair Gene: ERCC2/XPD exon 6 Mutation from Human by Nested Polymerase Chain Reaction (NPCR)
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摘要 背景与目的:探讨血样DNA来源困难及DNA产量低的情况下,获得理想的可供突变分析的PCR产物的方法。材料与方法:应用巢式聚合酶链反应(NPCR)-限制性片断长度多态(RFLP)技术检测了人类微量DNA样品的DNA修复基因:ERCC2／XPD exon 6的单核甘酸多态(SNP)。 结果:该位点群体基因分型结果显示:自身平衡检验结果符合Hardy-Weinberg遗传平衡法则。 结论:巢式PCR技术在扩增微量DNA、分析突变的实验中较一般单次扩增PCR技术更具有敏感性高,特异性强的优点。 BACKGROUND & AIM: To study a method which can get ideal products of PCR in the sample of low yield DNA for mutation analysis. MATERIAL AND METHODS: The nested polymerase chain reaction(NPCR) -restriction fragment length polymorphisms (RFLP) technique was used for mutation test of single nucleotide polymorphism of DNA repair gene: ERCC2/XPD exon 6 in some samples of low yield DNA.RESULTS: Genotyping results of population were in agreement with the expectations of Hardy-Weinberg Equilibrium. CONCLUSION: The sophisticated new'nested PCR' systems are significantly more sensitive and specific than other currently availble PCR technologies.
作者 郭丽 马业罡 孙中芙 祁荣 尹娇杨
机构地区 沈阳医学院中心实验室 辽宁省肿瘤医院胸外科
出处 《癌变．畸变．突变》 CAS CSCD 2005年第1期33-35,共3页 Carcinogenesis,Teratogenesis & Mutagenesis
基金 沈阳市科学技术局自然科学基金项目(No.1022043-1-05)
关键词 巢式聚合酶链反应 微量DNA样品 DNA修复基因 ERCC2/XPD EXON 6 nestea-po Lymerase cham reaction low yield DNA, DNA repair gene: ERCC2/XPD exon
分类号 R394.3 [医药卫生—医学遗传学]
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参考文献11

  • 1陈振斌,闫梅,雷箴,肖白,梁燕,朱章菱,黄莉嘉,刘敬忠.利用孕妇血浆DNA检测胎儿性别的研究[J].遗传,2004,26(1):18-22. 被引量：13
  • 2Shen MR, Jones IM, Mohrenweiser H. Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy human[J]. Cancer Res, 1998,58(4):604- 608.
  • 3Kwok PY, Gu Z. Single nucleotide polymorphism library: why and how are we building them [J] ? Mol Med Today , 1999,5(12): 538- 543.
  • 4Dybdahl M, Vogel U, Frentz G, et al. Polymorphisms in the DNA repair gene XPD: correlations with risk and at onset of basal cell carcinoma[J] . Cancer Epidemiol Biomarkers Prev,1999,8(1): 77-81.
  • 5Vogel U, Hedayati M , Dybdahl M , et al. Polymorphisms of the DNA repair gene XPD: correlation with risk of basal cell carcinoma revisited [J] . Carcinogenesis, 2001 , 22(6):899- 904.
  • 6Yin J, Rockenbauer E, Hedayati M, et al. Multiple single nucleotide polymorphisms on human chromosome 19q13.2- 3 associate with risk of basal cell carcinoma[J]. Cancer Epidemiol Biomarkers Prev, 2002,11(11): 1 449-1 453.
  • 7Yin J, Vogel U, Gerdes LU, et al. Twelve single nucleotide polymorphisms on chromosome 19q13.2 - 3: Linkage disequilibria and associations with basal cell carcinoma in Danish psoriatic patients[J] . Biochem Genet, 2003, 41(1-2):27 - 37.
  • 8Tomescu D, kavanagh G, Ha T, et al. Nucleotide excision repair gene XPD polymorphisms and genetic predisposition to melanoma[ J ]. Carcinogenesis, 2001,22(3) : 403 - 408.
  • 9Caggamm M, Kilgallen J, Conroy JM, et al. Associations between ERCC2 polymorphisms and gliomas[J] .Cancer Epidemiol Biomarkers Prev , 2001, 10(4): 355-360.
  • 10Butkiewicz D, Rusin M, Enewold L, et al. Genetic polymorphisms in DNA repair genes and risk of lung cancer[J]. Carcinogenesis, 2002, 22 (40) : 593 - 597.

二级参考文献12

  • 1[1]Lo Y M,Corbetta N,Chamberlain P F,Rai V,Sargent I L,Redman C W,Wainscoat J S.Presence of fetal DNA in maternal plasma and serum.Lancet,1997,350:485 ～ 487.
  • 2[2]Stroun M,Anker P,Maurice P,Lyautey J,Lederrey C,Beljans ki M.Neoplastic characteristics of the DNA found in the plas ma of cancer patients.Oncology,1989,46:3 1 8 ～ 322.
  • 3[3]Chen X Q,Stroun M,Magnenat J L,Nicod L P,Kurt A M,Lyautey J,Lederrey C,Anker P.Microsatellite alterations in plasma DNA of small cell lung cancer patients.Nat Med,1996,2:1033～1035.
  • 4[4]Lo Y M D,Tein M S C,Lau T K,Haines C J,Leung T N,Poon P M,Wainscoat J S,Johnson P J,Chang A M,Hjelm N M.Quantitative analysis of fetal DNA in maternal plasma and ser um:Implications for noninvasive prenatal diagnosis.Am J Hum Genet,1998,62:768～ 775.
  • 5[5]Lo Y M,Hjelm N M,Fidler C,Sargent I L,Murphy M F,Chamberlain P F,Poon P M,Redman C W,Wainscoat J S.Pre natal diagnosis of fetal RhD status by molecular analysis of maternal plasma.N Engl J Med,1998,339:1734～1738.
  • 6[8]Hamada H,Arinami T,Kubo T,Hamaguchi H,Iwasaki H.Fetal nucleated cells in maternal peripheral blood:frequency and relation ship to gestational age.Hum Genet,1993,91:427～432.
  • 7[10]Hahn S,Zhong X Y,Burk M R,Troeger C,Kang A,Holzgreve W.Both maternal and fetal cell-free DNA in plasma fluctuate.Ann N Y Acad Sci,2001,945:141～144.
  • 8[11]Sarkar G,Sommer S S.Shedding light on PCR contamination.Nature,1990,343:27.
  • 9[12]Al-Yatama M K,Mustafa A S,Ali S,Abraham S,Khan Z,Khaja N.Detection of Y chromosome-specific DNA in the plas ma and urine of pregnant women using nested polymerase chain reaction.Prenat Diagn,2001,21:399～402.
  • 10[13]Lo Y M D,Lau T Z,Zhang Jun,Leung T N,Chang A M,Hjelm N M,Elmes R S,Bianchi D W.Increased fetal DNA con centrations in the plasma of pregnant women carrying fetuses with trisomy 21.Clin Chem,1999,45:1747～1751.

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癌变．畸变．突变
2005年 第1期

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