Abstract: Objective To explore incidence gene types of glucose-6-phosphate dehydrogenase deficiency,and provide the support for genetic counseling and clinical medication.Methods We found 81 112 neonates who were newborn screened by glucose 6 phosphate dehydrogenase quantitative testing during the period from June 2016 to December 2017 in Liu zhou Maternal and Child Health Hospital,329 blood samples were collected from 2 595 suspected patients,and 50 blood samples of female neonates who were newborn screened by glucose 6 phosphate dehydrogenase quantitative testing were normal. G6PD gene were analyzed by multiplex probe melting curve to detect the 12 types common G6PD gene mutations.Results There were 301 cases detected gene mutation in 329 cases (236 male, 93 female) of samples. Multiplex probe melting curve has detected 28 wild type samples(9 male, 19 female),227 male hemizygous mutation samples,7 female homozygous mutation samples,20 female compound heterozygous mutation samples and 47 female heterozygous mutation samples. Find 10 different mutation types:71 cases of 95A>G(23.6%),1 cases of 392G>T(0.33%),1 cases of 517T>C(0.33%),1 cases of 592C>T(0.33%),12 cases of 871G>A(3.99%),3 cases of 1004C>A(0.99%),31 cases of 1024C>T(10.3%),1 cases of 1360C>T(0.33%),69 cases of 1376G>T(22.9%),111 cases of 1388G>A(36.9%),383T>C and 487G>A mutations were not detected. 4 female heterozygous mutation samples were detected form 50 female neonates.Conclusion 1388G>A、95A>G and 1376G>T are the most common types of G6PD gene mutation in Guangxi Liuzhou, multiplex probe melting curve analysis for G6PD gene mutation is sensitive for diagnosis female heterozygous mutation.

Key words: glucose-6-phosphate dehydrogenase deficiency, G6PD gene, female, neonate

摘要： 目的 对广西柳州新生儿进行葡萄糖-6-磷酸脱氢酶活性筛查及G6PD基因多态性检测,为遗传咨询及精准诊断提供理论依据。方法 收集2016年6月-2017年12月在柳州市妇幼保健院新生儿疾病筛查中心进行新生儿疾病筛查的足跟干滤纸血片81 112例进行葡萄糖-6-磷酸脱氢酶活性定量分析,选取2 595例阳性结果中的329例,及酶活性筛查正常女性新生儿50例,采用多色探针荧光PCR熔解曲线法进行中国人最常见的12种G6PD基因多态性(95A>G、383T>C、392G>T、487G>A、517T>C、592C>T、 871G>A、1004C>A、1024C>T、1360C>T、1376G>T、1388G>A)检测。结果 329例酶活性筛查阳性样本中男性236例,女性93例,检出野生型样本28例(男性9例,女性19例),基因突变301例(91.5%),其中包括男性半合子突变227例,女性纯合突变7例,女性复合杂合突变20例,女性杂合突变47例。基因突变类型分布:95A>G突变71例,392G>T突变1例,517T>C突变1例,592C>T突变1例,871G>A 突变12例,1004C>A突变3例,1024C>T突变31例,1360C>T 突变1例,1376G>T突变69例,1388G>A 突变111例,未发现383T>C及487G>A突变。50例酶活性筛查正常女性新生儿检出杂合突变携带者4例。结论 G6PD基因1388G>A、95A>G、1376G>T突变为本地区常见突变类型,基因诊断可有效检出女性杂合子携带者,建议表型和基因型结合的筛查方法,提高女性杂合子的检出率。

关键词: 葡萄糖-6-磷酸脱氢酶缺乏症, G6PD基因, 女性, 新生儿