有机阴离子转运因子2的多态性与某省新生儿重症高胆红素血症的相关性研究

The Relevance of OATP2 Gene Mutation to the Severe Hyperbilirubinemia in Neonates in A Province

目的探讨有机阴离子转运因子2(OATP2)的A388G及T521C基因多态性与云南省新生儿高胆红素血症的相关性。方法 180例新生儿重症高胆红素血症作为病例组,80例无黄疸新生儿作为对照组。采用常规方法提取DNA,用聚合酶链反应(PCR)方法扩增,琼脂糖凝胶电泳鉴定产物,PCR产物进行DNA测序。结果病例组与对照组A388G等位基因突变率分别为25%及23%,病例组A388G基因频率与对照组间差异无统计学意义(χ2=1.056,P>0.05);病例组与对照组T521C基因等位基因突变率分别为9%及3%,病例组T521C基因频率显著高于对照组,差异有统计学意义(χ2=5.590,P<0.05)。结论云南省重症新生儿高胆红素血症的发生与有机阴离子转运因子2的A388G基因突变无关,而与T521C基因的多态性密切相关。

Objective To investigate the relevance of OATP2 gene mutation in A388G and T521C to the severe hyperbilirubinemia in neonates in Yunnan.Methods The case group are 180 severe hyperbilirubinemia cases,the control group are 80 neonates without jaundice.Get out the DNA with routine;amplification gene with PCR;identify output with agarose gel electrophoresis;then sequencing.Results The case group and the control group allele gene frequency of A388G were 25%and23%,allele gene frequency in two group has not statistical difference（χ2=1.056,P0.05）.the case group and the control group allele gene frequency of T521C were 9% and 3%,the case group allele gene frequency of T521C was significantly higher than the control group,the difference has statistical significance（χ2=5.590,P 0.05）.Conclusions These results indicate that the severe hyperbilirubinemia in neonates is intimate correlate with T521C mutation,and independence with A388G mutation in Yunnan.