【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。更多还原

【Abstract】 Objective:To observe the distributions of vitamin D receptor gene(rs731236,rs1544410,and rs7975232) in case group(the children with blood lead level≥60 μg/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≥60 μg/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 genotypes in the two groups were compared,and the relationship between polymorphism of vitamin D receptor gene and blood lead levels of children 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 poisoning of children,which are worthy to be further analyzed as the susceptive gene of lead poisoning.更多还原