广西医学2018，Vol.40Issue(11)：1161-1163,3.DOI:10.11675/j.issn.0253-4304.2018.11.02
新生儿黄疸并葡萄糖-6-磷酸脱氢酶缺乏患儿的酶活性与性别及基因突变的关系
Relation of enzymatic activity with gender and gene mutation in neonatal jaundice patients complicated with glucose-6-phosphate dehydrogenase deficiency
摘要
Abstract
Objective To explore the relation of enzymatic activity with gender and gene mutation in neonatal jaundice patients complicated with glucose-6-phosphate dehydrogenase(G-6-PD) deficiency. Methods Eighty neonatal jaundice patients complicated with G-6-PD deficiency were enrolled,including 51 boys and 29 girls. The amplification refractory mutation system was used to detect three G-6-PD gene mutations including G1388A,G1376T and A95G,and nitro blue tetrazolium method was used to quantitatively detect the G-6-PD activity. The G-6-PD activity and degree of deficiency were compared between the boys and girls. The bilirubin level at 72 hours after birth and the degree of G-6-PD deficiency were compared among the children with different mutation types. Results The G-6-PD activity of the boys was lower than that of the girls,G-6-PD deficiency was more severer in the boys(all P＜0. 05), and moderate-severe deficiency was common in the boys but mild-moderate deficiency in the girls. Among the 80 children,G1388A mutation was found in 24 cases(49. 0% ),G1376T mutation in 17 cases(34. 7% ) and A95G mutation in 8 cases(16. 3% ). There were no significant differences in the serum total bilirubin level or the degree of G-6-PD deficiency among the children with different mutation types at 72 hours after birth (all P＞0. 05). Conclusion Neonatal jaundice complicated with G-6-PD deficiency is more common in boys compared to girls,and G-6-PD deficiency is more severe in the boys. The three types of G-6-PD mutations,including G1388A,G1376T and A95G,probably are not related to the degree of G-6-PD deficiency.关键词
葡萄糖-6-磷酸脱氢酶缺乏症/新生儿黄疸/基因突变/性别Key words
Glucose-6-phosphate dehydrogenase deficiency/Neonatal jaundice/Gene mutation/Gender分类
医药卫生引用本文复制引用
覃萍,石玲东,李婷婷,张玫,李桂玲,吴曙粤..新生儿黄疸并葡萄糖-6-磷酸脱氢酶缺乏患儿的酶活性与性别及基因突变的关系[J].广西医学,2018,40(11):1161-1163,3.基金项目
广西科学研究与技术开发计划(桂科攻1298003-6-7) （桂科攻1298003-6-7）
