胆红素尿苷二磷酸葡萄糖醛酸转移酶1A1基因突变与新生儿黄疸易感性的关系

发布时间：2018-03-04 20:29

本文选题：高胆红素血症　切入点：新生儿　出处：《山东医药》2017年01期 　论文类型：期刊论文

【摘要】：目的探讨胆红素尿苷二磷酸葡萄糖醛酸转移酶1A1基因(UGT1A1)第1外显子A1及启动子区TATA盒基因突变与广西新生儿黄疸的关系。方法 152例广西籍新生儿分为高胆红素血症组(病例组)102例及健康对照组50例,采用PCR和DNA直接测序法检测两组UGT1A1第1外显子及启动子区TATA盒基因型,比较两组UGT1A1 G71R基因型分布及等位基因频率差异,观察病例组UGT1A1基因突变类型及其不同基因型患儿出生后72 h后血清总胆红素水平。结果两组UGT1A1 G71R基因型分布及等位基因频率比较差异有统计学意义(P均0.01)。病例组检出G71R错义突变40例,启动子A(TA)7突变2例,715C→T杂合无义突变1例。病例组G71R纯合子患儿血清总胆红素水平高于野生型及杂合子患儿(P均0.05)。结论 UGT1A1基因G71R突变是广西新生儿黄疸主要突变类型,该突变与新生儿高胆红素血症有密切关系;新发现的715C→T无义突变可能是新生儿胆红素脑病发生的重要原因之一。
[Abstract]:Objective to investigate the relationship between the mutation of exon A1 and promoter TATA box gene in exon 1 of uridine diphosphate glucuronyltransferase 1A1 gene (UGT1A1) and neonatal jaundice in Guangxi. Methods 152 neonates from Guangxi were divided into hyperbilirubin and hyperbilirubin. There were 102 cases in the case group and 50 cases in the healthy control group. PCR and DNA direct sequencing were used to detect the TATA box genotypes in exon 1 and promoter region of UGT1A1. The distribution of UGT1A1 G71R genotypes and the frequency of UGT1A1 G71R alleles were compared between the two groups. UGT1A1 gene mutation type and serum total bilirubin level were observed 72 hours after birth. Results there were significant differences in UGT1A1 G71R genotype distribution and allele frequency between the two groups (P < 0.01). 40 cases of G71R missense mutation were detected. Two cases of Agnita-7 mutation in Promoter. 鈫扵he serum total bilirubin level of G71R homozygous children was higher than that of wild type and heterozygous children (P 0.05). Conclusion the G71R mutation of UGT1A1 gene is the main mutation type of neonatal jaundice in Guangxi. This mutation is closely related to neonatal hyperbilirubinemia. 鈫扵-nonsense mutation may be one of the important causes of neonatal bilirubin encephalopathy.
【作者单位】：广西医科大学第一附属医院;
【基金】：国家自然科学基金资助项目(81060055)
【分类号】：R722.17

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