XRCC1基因多态性与年龄相关性白内障的风险性关联分析

目的检测X射线交错互补修复基因1(XRCC1)Argl94Trp位点基因单核苷酸多态性与我国河南省汉族人群年龄相关性白内障的遗传易感性关系。方法用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)法对90例年龄相关性白内障患者(病例组)和60例健康人群(对照组)进行基因型分析。结果 XRCC1(Argl94Trp)位点基因多态性在河南省汉族群体中的基因型频率分布符合Hardy-Weinberg平衡定律。XRCC1(Argl94Trp)位点变异等位基因Trp在病例组及对照组的频率分别为29.4%和32.5%,差别无统计学意义(P>0.05)。Arg/Trp及Trp/Trp基因型在病例组与对照组中的基因型频率分别是38.9%、38.3%和10.0%、13.3%,差别均无统计学意义(P>0.05),提示Trp/Trp和Arg/Trp基因型均不增加年龄相关性白内障的发病风险。结论 XRCC1(Argl94Trp)位点基因多态性与我国河南省汉族人群年龄相关性白内障的发病风险无相关性。

Correlation analysis between XRCC1 gene polymorphisms and the risk of age-related cataract

Objective To explore the relation of XRCC1(Argl94Trp) polymorphisms and the risk of age-related cataract in henan Chinese Han population.Methods A total of 90 cases of age-related cataract(disease group) and 60 health people(control group)are genotyped by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) method..Results The frequency of genotype and allele of XRCC1(Argl94Trp) in all groups were consistent with Hardy-Weinberg equilibrium.The frequency of mutation allele Trp in control group and disease group was 29.4% and 32.5%,respectively.There is no significant difference between the two groups(P>0.05).The frequencies of Arg/Trp、Trp/Trp genotypes of XRCC1(Argl94Trp)are 38.9%、38.3% in patients group and 10.0%、13.3% in control group,respectively.There are no significant differences(P>0.05).Compared with Arg/Arg genotype,the Trp/Trp and Arg/Trp genotypes did't increase the risk of age-related cataract.Conclusion The polymorphism of XRCC1(Argl94Trp)gene is unrelated with the risk of age-related cataract in henan Chinese Han population.