【摘要】 目的探讨尿苷二磷酸葡萄糖醛酸转移酶基因(UGT1A1)编码序列Gly71Arg的多态性与云南省重症新生儿黄疸的关联性.方法 78例重症新生儿黄疸作为病例组,30例无黄疸新生儿作为对照组.采用常规酚氯仿法提取DNA,用聚合酶链反应(PCR)方法扩增UGT1A1第1外显子,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Gly71Arg等位基因多态性率分别为32.1%及13.3%,病例组Gly71Arg基因频率显著高于对照组,差异有统计学意义(P<0.01);病例组中Gly71Arg突变型与野生型总胆红素值比较,结果提示突变型总胆红素值高于野生型,但差值无统计学意义(P>0.05).结论云南省重症新生儿黄疸的发生与Gly71Arg多态性密切相关,但总胆红素值在Gly71Arg多态性中差异无统计学意义.更多还原

【Abstract】 Objective To investigate the heredity relevance of Gly71Arg gene mutation to severe neonatal jaundice in Yunnan.Methods 78 cases of severe neonatal jaundice were selected into the case group,and 30 neonates without jaundice were enrolled into the control group.Routine phenol-chloroform method was used to ectract DNA,and PCR was used to amplify the first exon of UGT1A1,PCR products were indentified by argrose gel electrophoresis and sequencing.Results The allele gene frequency of Gly71Arg was 32.1% and 13.3% in the case group and the control group,respectively,and there was a statistically significant difference between the two groups(P<0.01).In the case group,the total bilirubin of mutation was higher than wild type,but it had no statistical difference(P>0.05).Conclusion Severe neonatal jaundice is intimately correlated with Gly71Arg mutation,but the total bilirubin is independent with Gly71Arg mutation in Yunnan.更多还原