癌变·畸变·突变 ›› 2005, Vol. 17 ›› Issue (1): 33-35.doi: 10.3969/j.issn.1004-616x.2005.01.011

• 论著 • 上一篇    下一篇

巢式聚合酶链反应检测人类DNA修复基因:ERCC2/XPDexon 6突变

郭 丽;马业罡;孙中芙;祁 荣;尹娇杨   

  1. 沈阳医学院中心实验室, 辽宁 沈阳 110034
  • 收稿日期:2004-06-01 修回日期:2004-09-15 出版日期:2005-01-30 发布日期:2005-01-30
  • 通讯作者: 尹娇杨

Detection of DNA Repair Gene: ERCC2/XPD exon 6 Mutation from Human by Nested Polymerase Chain Reaction (NPCR)

GUO Li; MA Ye-gang;SUN Zhong-fu; et al   

  1. The Center Laboratory, Shenyang Medical College,Shenyang 110034,China
  • Received:2004-06-01 Revised:2004-09-15 Online:2005-01-30 Published:2005-01-30
  • Contact: YIN Jiao-yang

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。

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

Abstract: 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.  

Key words: nested-polymerase chain reaction, low yield DNA, DNA repair gene: ERCC2/XPD exon 6