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UGTIA1 G71R基因突变对母乳性黄疸发病的影响
引用本文:傅雯萍,王维亚,张凤梅.UGTIA1 G71R基因突变对母乳性黄疸发病的影响[J].武警医学,2011,22(4):323-325.
作者姓名:傅雯萍  王维亚  张凤梅
作者单位:武警医学院附属医院儿科,天津,300162
摘    要:目的 探讨葡萄糖醛酸转移酶UGT1A1 G71R基因突变对母乳性黄疸发病的影响.方法 采用病例对照研究方法,收集母乳性黄疸56例(黄疸组)和对照40例(对照组).用套式PCR后限制性片段长度多态性分析(RFLP)确定UGT1A1 G71R基因型.通过全自动生化分析仪测定胆红素水平.分析 UGT1A1 G71R突变与母乳性黄疸发病的关系.结果 黄疽组中,UGT1 A1 GT1R突变纯合子5例、杂合子24例、野生型27例,UGT1A1 G71R等位基因频率为30.36%.对照组中,UGT1A1 G71R突变纯合子1例、杂合子9例、野生型30例,UGT1A1 G71R等位基因频率为13.75%.等位基因频率前者明显高于后者,且有统计学意义(X2=7.17,P=0.01).UGT1A1 G71R突变纯合子或杂合子组婴儿发生母乳性黄疸的OR(95%CI)为3.2(1.32,7.77).结论 UGT1A1 G71R基因突变可能是晚发性母乳性黄疸发病的促发因素之一.

关 键 词:母乳性黄疸  UGT1A1基因  婴儿

The effect of the UDP-glucoronosyl transferase transferase l A1 G71 R gene mutation on the development of breast-milk jaundice
FU Wenping,WANG Weiya,ZHANG Fengmei.The effect of the UDP-glucoronosyl transferase transferase l A1 G71 R gene mutation on the development of breast-milk jaundice[J].Medical Journal of the Chinese People's Armed Police Forces,2011,22(4):323-325.
Authors:FU Wenping  WANG Weiya  ZHANG Fengmei
Institution:FU Wenping,WANG Weiya,and ZHANG Fengmei.The Affiliated Hospital of Medical College of Chinese People's Armed Police Forces,Tianjin 300162,China
Abstract:Objective This study was to investigate the effect of G71R mutation in the first exon of the uridine 5'-diposphate -glucuronosyl transferase 1A1(UGT1A1) gene to the development of late - onset breast - milk jaundice.Methods 96 blood samples had been collected for the identification of UGT1A1 G71R mutation by restriction fragment length polymorphism(RFLP) after nest - polymerase chain reaction.The levels of blood bilirubin were determined by automatic biochemistry analyzer.The infants were allocated into lat...
Keywords:breast - milk jaundice  UGT1A1 gene  infant  
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