云南省迁延性新生儿黄疸与UGT1A1基因多态性的遗传关联性研究  

The Heredity Relevance of UGT1A1 Gene Mutation to the Neonate Persisting Jaundice in Yunnan

作　　者：蒋榆辉[1] 胡敏[2] 刘玲[1] 李杨方[1] 崔珊[1] 张路[1] 

机构地区：[1]昆明市儿童医院新生儿科,云南昆明650031 [2]昆明学院昆明分子医学研究中心,云南昆明650011

出　　处：《昆明医学院学报》2012年第7期15-17,27,共4页Journal of Kunming Medical College

基　　金：国家自然科学基金资助项目(81060361);昆明学院科学研究基金资助项目(XJ1L017)

摘　　要：目的探讨尿苷二磷酸葡萄糖醛酸转移酶(UGT1A1)基因编码序列(Gly71Arg)的突变及启动序列(非编码序列即TATA)核苷酸的多态性与云南省迁延性新生儿黄疸遗传关联性.方法 289例迁延性新生儿黄疸作为病例组,96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等位基因突变率分别为33%及17%,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);病例组与对照组TATA等位基因突变率均为8%,等位基因频率在病例组及对照组间无统计学差异(P>0.05).结论云南省迁延性新生儿黄疸的发生与Gly71Arg突变密切相关,而与TATA的多态性无关.Objective To investigate the heredity relevance of UGT1A1 gene mutation in exon （Gly71Arg） and priming （TATA） to the neonate persisting jaundice in Yunnan. Methods 289 persisting jaundice neonates were selected in the case group, and 96 neonates without jaundice were selected in the control group. DNA was extracted by regular method, and the first exon of UGT1A1 was amplified by PCR, the PCR product was identifid by argrose gel electrophoresis and sequencing. Results The allele gene frequency of G71R were 33% and 17% in the case group and the control group, the allele gene frequency of G71R was significantly higher in the case group than the control group, the difference had statistical significance （P 〈 0.01 ）. The allele gene frequency of TATA were 8% and 8% in the case group and the control group, and there was no statistical difference between two groups （P 〉 0.05）. Conclusion The persisting jaundice is closely correlated with Gly71Arg mutation, and has no relation with TATA mutation in Yunnan.

关 键 词：新生儿 尿苷二磷酸葡萄糖醛酸转移酶 基因突变 黄疸 

分 类 号：R722.17[医药卫生—儿科]