维生素D受体基因(VDR)多态性与儿童铅中毒易感性的研究  

Study on the relationship between polymorphism of vitamin D receptor gene and susceptibility of lead poisoning of children

作　　者：王瑞英[1] 王宏[1] 周璐[1] 雷雨[1] 王虹[1] 龙峰[1] 

机构地区：[1]广东省深圳市妇幼保健院,518028

出　　处：《中国妇幼保健》2012年第21期3312-3314,共3页Maternal and Child Health Care of China

基　　金：2010年深圳市科技计划项目〔201003114〕

摘　　要：目的:观察维生素D受体(VDR)基因rs731236、rs1544410及rs7975232在深圳市儿童血铅≥60μg/L样本组和低铅对照组之间的分布,揭示VDR基因多态性与儿童铅中毒易感的相关性。方法:在6个月～6岁儿童中筛选出75例样本组(血铅≥60μg/L均值(X=82.24μg/L)和80例对照组(血铅均值X=19.90μg/L)的样本,用PCR方法对VDR基因rs731236、rs1544410及rs7975232进行扩增,采用基质辅助激光解吸电离飞行时间质谱分析法(MALDI-TOF-MS)鉴定其基因型,比较各基因型在两组间的分布,寻找其与儿童血铅值的关系。结果:VDR基因rs731236中的基因型TT在样本组与对照组的分布频率差异有统计学意义(P<0.05),rs1544410中的GG在样本组与对照组的分布频率差异有统计学意义(P<0.01),rs7975232多态性在样本组与对照组的分布频率差异无统计学意义(P>0.05)。结论:VDR基因rs731236中的TT和rs1544410中的GG基因型可能增加儿童铅中毒的危险性;作为铅中毒的易感基因筛查值得进一步探讨。Objective： To observe the distributions of vitamin D receptor gene （rs731236, rs1544410, and rs7975232） in case group （the children with blood lead level≥60μg/L） and control group （the children with low blood lead level） in Shenzhen city, reveal the correlation between polymorphism of vitamin D receptor gene and susceptibility of lead poisoning of children. Methods： Among the children aged six months - six years old in Shenzhen city, 75 children in case group （blood lead level ≥60μg/L, the mean value = 82. 24 μg/L） and 80 children in control group （the mean value of blood lead- 19.90 μg/L） were selected, PCR was used to amplify vitamin D receptor gene （rs731236, rs1544410, and rs7975232）, the genotypes were determined by MALDI -TOF- MS assay, the distributions of different geno- types in the two groups were compared, and the relationship between polymorphism of vitamin D receptor gene and blood lead levels of chil- dren was analyzed. Results： There was statistically significant difference in the distribution frequency of TT genotype in vitamin D receptor gene rs7975232 between case group and control group （P 〈 0.05 ） , there was statistically significant difference in the distribution frequency of GG genotype in vitamin D receptor gene rs1544410 between case group and control group （ P 〈 0. 01 ）, there was no statistically significant difference in polymorphism of vitamin D receptor gene rs7975232 between case group and control group （ P 〉 0. 05 ） . Conclusion： Both TT genotype in vitamin D receptor gene rs7975232 and GG genotype in vitamin D receptor gene rs1544410 may increase the risk of lead poison- ing of children, which are worthy to be further analyzed as the susceptive gene of lead poisoning.

关 键 词：维生素D受体 基因多态性 儿童 铅中毒易感性 

分 类 号：R596[医药卫生—内科学]