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

摘要

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.%目的 探讨新生儿黄疸伴葡萄糖-6-磷酸脱氢酶( G-6-PD)缺乏患儿的酶活性与性别、基因突变的关系.方法 纳入G-6-PD缺乏的新生儿黄疸患儿80 例,其中男性51 例、女性29 例.采用突变特异性扩增系统检测G1388A、G1376T和A95G 3个G-6-PD基因突变类型,采用硝基四氮唑蓝定量法检测G-6-PD活性.比较不同性别患儿的G-6-PD活性及缺乏程度,以及3种基因突变类型患儿的生后72 h胆红素水平及G-6-PD缺乏程度.结果 男性患儿G-6-PD活性低于女性患儿,缺乏程度更严重(均P＜0.05),以中重度缺乏为主,女性患儿以轻中度缺乏为主. 80例患儿中,G1388A突变24例(49.0% ),G1376T突变17例(34.7% ),A95G突变8例(16.3% ). 3种G-6-PD基因突变类型患儿生后72 h的血清总胆红素水平及G-6-PD缺乏程度比较,差异均无统计学意义(均P＞0.05).结论 新生儿黄疸伴G-6-PD缺乏患儿男性多于女性,且活性缺乏程度更严重. G1388A、G1376T和A95G 3 种G-6-PD突变类型与酶活性缺乏的严重程度可能无关.