维生素D受体基因多态性与汉族、维吾尔族和哈萨克族儿童铅中毒遗传易感性

目的探讨汉族、维吾尔族和哈萨克族儿童VDR-BsmI基因多态性位点及其铅中毒遗传易感性的关系。方法PCR-RFLP方法对新疆乌鲁木齐市的汉族469名、维吾尔族443名和哈萨克族516名儿童VDR-BsmI基因多态性进行分析。分析探讨汉族、维吾尔族和哈萨克族儿童VDR-BsmI基因多态性与血铅水平的关系。结果在汉族人群中,BsmI B和BsmI b等位基因频率分别为6%和94%;在维吾尔族人群中,BsmI B和BsmI b等位基因频率分别为18%和82%;在哈萨克族人群中,BsmI B和BsmI b等位基因频率分别为43%和57%,三者差异有统计学意义(P<0.01)。维吾尔族和汉族儿童BsmI位点基因多态性与血铅水平间有相关关系。结论VDR-BsmI位点基因多态性对铅毒性影响的方式可能与机体铅的负荷量密切相关。

Polymorphism of vitamin D receptor and lead poisoning genetic polymorphism in Han,Uygur and Kazak child in China

Objective To explore the relationship between the polymorphism of vitamin D receptor(VDR)and genetic polymorphism in Han,uygur and Kazak child in China.Methods The VDR genotyping was determined by PCR-RFLP in 469 Han,443 Uygur and 516 Kazak child from Xinjiang province.The correlation between the polymorphism of VDR and blood lead levels were explored.Results The frequencies of the allele BsmIB and BsmIb in Han child were 6% and 94 %,and in Uygur were 18% and 82%,in Kazak were 43% and 57% respectively.Statistic correlation between the distribution of VDR-BsmI alleles and the blood lead level was found in Han and Uygur.Conclusion The genetic susceptibility of VDR polymorphism to lead toxicity may exhibit in a lead dose-dependent manner.