中文摘要：

目的研究DNA修复基因-着色性干皮病基因A（XPA）、着色性干皮病基因D（XPD）、X线修复交叉互补基因1（XRCC1）和X线修复交叉互补基因3（XRCC3）多态性与食管癌易感性的关系.方法通过1：1配对的病例-对照研究方法收集样本106对,应用PCR-限制性片断长度多态性（PCR-RFLP）技术检测样本的基因型,比较不同基因型与食管癌易感性的关系.结果携带XPA G/G基因型的个体与携带A/A基因型者相比,可降低患食管癌的危险性（OR=0.4737,95%CI=0.2280～0.9839）;食管癌组中,携带XRCC1 399Gln/Gln的个体数高于对照组,其患食管癌的危险性是对照人群的3倍（OR=3.447,95%CI=1.078～11.026,P=0.029）.结论 DNA修复基因XPA 23位和XRCC1399位多态可能在食管癌的发生中起一定作用.

英文摘要：

Objective To explore the relationship between the polymorphisms of XPA（A23G）, XPD（Lys751Gln）, XR-CC1 （Arg194Trp and Arg399Cln）and XRCC3 （Thr/Met） genotypes and susceptibility to esophageal cancer in Huaian Han population, China. Methods A 1 ： 1 case-control study was conducted among 106 ESCC patients and 106 control subjects （matched by age ＋ 5 years and gender）. PCR-RFLP method was used to detect genotypes. Results There was significant difference of distribution of mutant homozgote of XPA 23 and XRCC1 399 genotype between cases and controls（χ^2 = 4. 027 7, P = 0. 044 8 ; χ^2 = 4. 745, P = 0. 029, respectively）. Individuals with mutant allele of XPD 751, XRCCI 194 or XRCC3 241 genotype did not show the rising risk of esophageal cancer（ OR = 1.424, 95 % CI = 0. 621 - 3. 263 ; OR = 0.826, 95 % CI = 0. 857- 1. 381 ; OR = 1. 276, 95 % CI = 0. 483-3. 371, respectively）. Conclusion The polymorphisms of XPA A23G and XRCC1 Arg399Gln were related to the susceptibility of esophageal cancer in Huaian Han population.