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目的研究非吸烟女性群体中DNA修复基因XRCC1(X-ray repair complementing defective repair in Chi-nese hamster cell1)同义突变多态与肺癌遗传易感性。方法选择肿瘤医院55例非吸烟女性肺癌患者,74名正常对照者进行PCR-限制性片段长度多态性(RFLP)分型,分析XRCC1Pro206Pro和Gln632Gln多态/单体型与肺癌的关联。结果XRCC1Pro206Pro(G)变异等位基因携带者与AA野生等位基因纯合子个体相比较,肺癌发生风险为3.93倍(OR=3.93,95%CI=1.47~10.52,P<0.004);单体型在肺癌组与对照组之间的总体分布差异有统计学意义(P=0.005);由2个同义突变等位基因结合的单体型1[Pro206Pro(G)-Gln632Gln(A)]是高风险性单体型(OR=4.04,95%CI=1.36~11.96,P=0.007);2个多态之间存在强烈的连锁不平衡(D′=0.702)。结论非吸烟女性群体中,XRCC1Rro206Pro(G)等位基因及含其等位基因的单体型可能是肺癌易感性的重要因素。
Objective To study the synonymous mutation polymorphisms of DNA repair gene XRCC1 (X-ray repair complementing defective repair in Chi-nese hamster cell1) and genetic susceptibility of lung cancer in non-smoking female population. Methods Fifty-five non-smokers with lung cancer in Cancer Hospital and 74 normal controls were genotyped by PCR-restriction fragment length polymorphism (RFLP). The association of XRCC1Pro206Pro and Gln632Gln polymorphisms / haplotypes with lung cancer was analyzed. Results The risk of lung cancer was 3.93 times (OR = 3.93, 95% CI = 1.47-10.52, P <0.004). Compared with individuals homozygous for AA wild-type alleles, the carriers of XRCC1Pro206Pro (G) There was a statistically significant difference in overall distribution between the lung cancer group and the control group (P = 0.005); haplotype 1 [Pro206Pro (G) -Gln632Gln (A)], which binds to two synonymous mutant alleles, Risk haplotype (OR = 4.04, 95% CI = 1.36-11.96, P = 0.007). There was a strong linkage disequilibrium between the two polymorphisms (D ’= 0.702). Conclusion The non-smoking female population, XRCC1Rro206Pro (G) allele and its allele-containing haplotype may be an important factor of lung cancer susceptibility.