DNA修复基因XPD多态性与地方性砷中毒关系的研究

目的研究核苷酸切除修复基因XPD单核苷酸多态性与地方性砷中毒患病风险的关系。方法采用病例对照研究，包括正常对照99人，地方性砷中毒患者92人。以聚合酶链反应一限制性长度多态性方法分析XPD基因Lys751 Gin多态性，比较不同基因型和地方性砷中毒患病风险的方法。结果病例组中野生型XPD75Gln纯合子的频率明显低于对照组，和携带XPD751Lys／Lys基因型比较，携带至少一个XPD75Gln等位基因的个体即Lys／Cln和Gin／Gin基因型。地方性砷中毒发病风险显著增加，锨值分别为1．59和8．56。结论XPD基因Lys751Gln多态性和地方性砷中毒易感性有关，XPD751Gln等位基因可能是地方性砷中毒的风险等位基因。

Association of Genetic Polymorphisms in the DNA Repair Gene XPD with the Risk of Arsenism

Objective To investigate the single nucleotide polymorphism(SNP)of the DNA repair gene XPD to uncover the relationship between the XPD SNP and susceptibility to arsenism in a Chinese population by a case-control study. Methods Genetypes were determined by PCR-RFLP approaches in 99 healthy controls and 92 patients.The odds ratios and 95% CI were calculated.(Results The frequency) of XPD 751 Lys/Lys is significantly lower in patients than that of the controls.Individuals carrying at least one 751 Gln variant allele were at an increase risk for arsenism as compared with those with the Lys/Lys genetype.The ORs are 1.59 and 8.56,respectively.Conclusion It indicates that the Lys751Gln polymorphism in the XPD locus are associated with the risk of arsenism in this Chinese population.