UGT1A1 G71R基因突变对母乳性黄疸发病的影响  

The effect of the UDP- glucoronosyl transferase transferase 1A1 G71R gene mutation on the development of breast - milk jaundice

作　　者：傅雯萍[1] 王维亚[1] 张凤梅[1] 

机构地区：[1]武警医学院附属医院儿科,天津300162

出　　处：《武警医学》2011年第4期323-325,共3页Medical Journal of the Chinese People's Armed Police Force

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 G71 R基因型。通过全自动生化分析仪测定胆红素水平。分析UGT1A1 G71 R突变与母乳性黄疸发病的关系。结果黄疸组中,UGT1A1 G71R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(x^2=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。Objective This study was to investigate the effect of G71R mutation in the first exon of the uridine 5 ＇ - di- posphate - glucuronosyl transferase 1 A1 （ UGTIA1 ） gene to the development of late - onset breast - milk jaundice. Methods 96 blood samples had been collected for the identification of UGT1 A1 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 late- onset breast- milk jaundice group and control group. We analysed the relation between G71R mutation and devel- opment of late - onset breast - milk jaundice. Results 56 infants were belong to late - onset breast - milk jaundice group, there into 5 infants were genotypes of GTIR homozygous variation, 24 infants were genotypes of heterozygous variation, 27 infants were genotypes of wide - type. The allele gene frequency of GT1R is 30. 36% in late - onset breast - milk jaundice group. 40 infants were belong to control group, there into, 1 infants were homozygous variations, 9 infants were heterozygous variations, 30 infants were wide -types. The allele gene frequency of G71R is 13.75% in control group. The allele gene frequency of G71R in late - onset breast - milk jaundice group was significantly higher than that of control group wide - types（x2 = 7.17 ,P = 0. 01 ）. The OR of the development of breast - milk jaundice among those infants who were homozygous or heterozygous variant of the UGT1 A1 G71R gene was 3.2 （95% CI：1. 32, 7.77）. Conclusions These results indicate that UGT1A1 G71R gene mutation is possibly a precipitating factor to the development of late - onset feast - milk jaundice.

关 键 词：母乳性黄疸 UGTIA1基因 婴儿 

分 类 号：R72[医药卫生—儿科]