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[目的]研究非小细胞肺癌(NSCLC)患者DNA修复基因XPD多态性与p53基因突变的相关性。[方法]以PCR-RFLP方法分析60例NSCLC患者外周血XPD基因Lys751Gln多态;运用PCR-SCCP银染结合DNA序列分析法检测癌组织p53基因第5、6、7和8外显子突变情况。[结果]19例患者至少携带1个XPD751Gln等位基因;25例发生p53基因突变,突变率为42%;携带至少1个XPD751Gln等位基因的患者中p53基因突变率为52.6%,XPD751野生基因型中突变率为36.6%(P=0.27)。所有p53基因突变患者DNA序列分析结果显示,颠换27个,转换12个;突变类型分析显示,携带至少1个XPD751Gln等位基因的患者颠换发生明显占优势,颠换∶转换为14∶2,XPD751野生基因型颠换∶转换为13∶10(P=0.08)。[结论]NSCLC患者中DNA修复基因XPD多态性与p53基因突变发生无明显相关性。
[Objective] To investigate the relationship between XPD polymorphism of DNA repair gene and p53 gene mutation in patients with non-small cell lung cancer (NSCLC). [Methods] The XPD gene Lys751Gln polymorphism in peripheral blood of 60 patients with NSCLC was analyzed by PCR-RFLP. The mutation of exon 5, 6, 7 and 8 of p53 gene in cancer tissue was detected by PCR-SCCP silver staining and DNA sequence analysis . [Results] 19 patients with at least one XPD751Gln allele; 25 patients with p53 gene mutation, the mutation rate was 42%; carrying at least one XPD751Gln allele in patients with p53 gene mutation rate was 52.6%, XPD751 wild-type gene The mutation rate was 36.6% (P = 0.27). DNA sequence analysis of all patients with mutations in p53 revealed 27 transversions and 12 transpositions. Mutational type analysis revealed predominantly transversion in patients with at least one XPD751 Gln allele, transversion: conversion to 14: 2 , XPD751 Wild Genotype Transversion: Converted to 13:10 (P = 0.08). [Conclusion] There is no significant correlation between XPD polymorphism of DNA repair gene and p53 gene mutation in patients with NSCLC.