中国当代儿科杂志2009，Vol.11Issue(12)：970-972,3.
广西南宁地区G6PD基因突变与新生儿黄疸的关系
Relationship between glucose-6-phosphate dehydrogenase gene mutations and neo-natal jaundice in Naning, Guangxi
摘要
Abstract
Objective To study the correlation between glucose-6-phosphate dehydrogenase (G-6-PD) activities and three common mutations of G-6-PD gene G1388A, G1376T and A95G and investigate the effects of G-6-PD gene mutations on neonatal jaundice in Nanning, Guangxi. Methods One hundred and twenty-four neonates from Nanning, Guangxi, with hyperbilirubinemia were enrolled. The ARMS-PCR and PCR/REA methods were used to determine G-6-PD gene mutations. G-6-PD activities were measured using the NBT method. The incidence of acute bilirubin encephalopathy and the peak bilirubin concentration 72 hrs after birth were compared between the neonates with different genotypes and between the G-6-PD mutation and normal groups. The risk of blood serum bilirubin > 340 μmol/L was evaluated by logistic regression analysis. Results Of the 124 cases, gene mutations were found in 37 cases, including G1388A (n = 20),G1376T (n = 14), A95G (n =4) and G1388A + A95G (n = 1). Five cases (25%) showed normal G-6-PD activities in the G1388A gene mutation group and 4 (29% ) had normal G-6-PD activities in the G1376T G1388A gene mutation group. All of 4 cases of A95G G1388A gene mutation showed a deficiency of G-6-PD activities. There were no significant differences in the incidence of acute bilirubin encephalopathy and the peak bilirubin concentration 72 hrs after birth between the G1388A and G1376T G1388A gene mutation groups. The incidence of acute bilirubin encephalopathy, the peak bilirubin concentration 72 hrs after birth and the risk of serum bilirubin > 340 μmol/L in the G-6-PD mutation group were not different from the normal group. Conclusions G1388A, G1376T and A95G are common G-6-PD gene mutations in Nanning, Guangxi. The false negative results may be received when the NBT method is used for diagnosis of G-6-PD deficiency. There are similar effects on the incidence of acute bilirubin encephalopathy and the peak bilirubin concentration 72 hrs after birth between different gene mutation groups. G-6-PD gene mutations alone may not contribute to the development of acute bilirubin encephalopathy and the changes of peak bilirubin concentration 72 hrs after birth and the risk of serum bilirubin >340 μmol/L.关键词
葡萄糖-6-磷酸脱氢酶缺乏症/基因型/高胆红素血症/新生儿Key words
Glucose-6-phosphate dehydrogenase deficiency/ Genotype/ Hyperbilirubinemia/ Neonate分类
医药卫生引用本文复制引用
钟丹妮,高宗燕,刘悠南,刘义,韦露明..广西南宁地区G6PD基因突变与新生儿黄疸的关系[J].中国当代儿科杂志,2009,11(12):970-972,3.基金项目
广西自然科学基金资助项目(0728117). （0728117）
