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)

作　　者：郭丽[1] 马业罡[2] 孙中芙[1] 祁荣[1] 尹娇杨[1] 

机构地区：[1]沈阳医学院中心实验室,辽宁沈阳110034 [2]辽宁省肿瘤医院胸外科,辽宁沈阳110042

出　　处：《癌变．畸变．突变》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)

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.

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 

分 类 号：R394.3[医药卫生—医学遗传学]