广东省茂名地区新生儿葡萄糖-6-磷酸脱氢酶缺乏症基因突变型研究  

Study on gene mutation of glucose-6-phosphate dehydrogenase deficiency in neonates in Maoming, Guangdong

作　　者：李富 陈海玲[1] 聂俊玮[1] 唐玉芬[1] 蓝金生 LI Fu;CHEN Hai-ling;NIE Jun-wei;TANG Yu-fen;LAN Jin-sheng(Department of Genetic Eugenics,Maoming Women and Children's Health Hospital,Maoming 525000,Guangdong,CHINA)

机构地区：[1]茂名市妇幼保健院遗传优生优育科,广东茂名525000

出　　处：《海南医学》2022年第1期62-64,共3页Hainan Medical Journal

基　　金：广东省茂名市科技计划项目(编号:190401151700131)。

摘　　要：目的探讨广东省茂名地区新生儿葡萄糖-6-磷酸脱氢酶缺乏症(G6PD)基因突变类型及特征。方法选取2018年1月至2019年11月茂名市妇幼保健院新生儿疾病筛查中心筛查的G6PD可疑阳性新生儿785例,采用G6PD/6PGD荧光比值法检测G6PD酶活性;采用多色探针荧光PCR熔解曲线法(MMCA)对新生儿干血斑样本进行G6PD基因突变检测。结果 785例新生儿中检出酶活性缺乏者625例,占79.62%,男性和女性酶活性正常、中度缺乏和重度缺乏新生儿比例比较差异均有统计学意义(P<0.05);785例新生儿中共检出706例G6PD基因突变,总突变率为89.94%,共检出10种单一基因突变类型,占97.17%,共检出14种复合基因突变,占2.83%,其中c.1388 G>A、c.1376G>T和c.95A>G是居前三位的热点突变类型,合计占78.90%;99例男性G6PD基因突变样本,均表现为G6PD酶活性缺乏,207例女性G6PD基因突变样本中,56.04%表现为G6PD酶活性缺乏,43.96%G6PD酶活性正常。结论 c.1388 G>A、c.1376G>T和c.95A>G是茂名地区G6PD缺乏症的热点突变,G6PD基因型和表型一致性存在明显的性别差异,在男性患儿明显更高;单独酶活性检测易导致女性杂合突变漏诊,应结合基因突变综合分析以提高检出率。Objective To explore gene mutation types and features of glucose-6-phosphate dehydrogenase(G6 PD) deficiency in neonates in Maoming, Guangdong. Methods A total of 785 neonates with suspected G6 PD deficiency in Neonatal Disease Screening Center, Maoming Women and Children’s Health Hospital were enrolled between January 2018 and November 2019. G6 PD activity was detected by G6 PD/6 PGD fluorescence ratio method. The gene mutation tests in dried blood spot(DBS) samples were conducted by multicolor melting curve analysis(MMCA). Results Among the 785 neonates, there were 625 cases with enzyme activity deficiency(79.62%). There were significant differences in proportions of neonates with normal, moderately deficient and severely deficient enzyme activity between males and females(P<0.05). Among the 785 neonates, there were 706 cases with G6 PD gene mutations, with the total mutation rate of 89.94%. There were 10 kinds of single gene mutation(97.17%), and 14 kinds of compound gene mutation(2.83%). The c.1388 G>A, c.1376 G>T, and c.95 A>G were the top three hot mutation types,accounting for 78.90% in total. Among the G6 PD gene mutation samples from the 99 males, there was lack of G6 PD enzyme activity. Among the G6 PD gene mutation samples from 207 females, there were 56.04% of them with lack of G6 PD enzyme activity and 43.96% with G6 PD normalenzyme activity. Conclusion c.1388 G>A, c.1376 G>T, and c.95 A>G are hot mutations of G6 PD deficiency in Maoming. There are significant gender differences in consistency between G6 PD genotype and phenotype, which is significantly higher in the male. The single detection of enzyme activity is easy to result in missed diagnosis of heterozygous mutations in the female. The comprehensive analysis of gene mutation should be combined with to improve detection rate.

关 键 词：茂名地区 葡萄糖-6-磷酸脱氢酶缺乏症 新生儿 基因突变 荧光聚合酶链反应溶解曲线法 

分 类 号：R722[医药卫生—儿科]