346例海南黎族新生儿G6PD基因突变分析  

Mutation Analysis of G6PD Gene in 346 Cases of Li Nationality in Hainan

作　　者：刘秀莲[1] 王洁[1] 林燕[1] 许海珠[1] 赵振东[1] Liu Xiulian;Wang Jie;Lin Yan;Xu Haizhu;Zhao Zhendong(Center of Clinical Laboratory,Maternal and Child Health Care Hospital of Hainan Province,Haikou,570206)

机构地区：[1]海南省妇幼保健院检验中心

出　　处：《基因组学与应用生物学》2019年第9期4224-4229,共6页Genomics and Applied Biology

基　　金：海南省自然科学基金项目(20168327)资助

摘　　要：为了解海南黎族新生儿G6PD基因突变的流行情况以及为本地区该民族G6PD缺乏症的防治提供参考,本研究对滤纸干血斑进行了G6PD基因突变检测,即用多色探针荧光PCR熔解曲线法对中国人群常见的16种基因突变进行检测。结果表明:在海南黎族667例新生儿样本中检出G6PD基因突变样本346例,总突变率51.9%(346/667),以保亭县黎族的突变率(61.5%)最高,其次是白沙县57.0%、琼中县54.5%。本研究共检出11种G6PD基因突变和3种复合突变,以c.1376G>T、c.1388G>A和c.95A>G这3种基因突变型为主,分别占61.85%、23.41%和4.34%,同时发现1例c.86C>T突变。这说明海南黎族存在G6PD缺乏症的高发人群。海南黎族人群中最常见的G6PD基因突变型是G6PD基因c.1376G>T、c.1388G>A和c.95A>G突变。G6PD基因突变的研究有利于G6PD缺乏症高发地区对新生儿溶血、黄疸、蚕豆病的确诊与防治,并能为此类病情的治疗提供参考数据。In order to investigate the prevalence of G6PD gene mutation in the Li nationality of Hainan and provide reference for the prevention and treatment of G6PD deficiency in this region, we detected the genotypic mutation of glucose-6-phosphate dehydrogenase (G6PD) gene in dried blood spots, and the G6PD mutations of 16 common kinds of Chinese population identified by multicolor melting curve analysis. The results showed that the genotypic mutation rate of G6PD was 51.9%(346/667) in neonates of Hainan Li Nationality. The highest mutation rate of G6PD was Baoting Li Nationality (61.5%), secondly it was Baisha (57.0%), and the next was Qiongzhong (54.5%). There were 11 kinds of gene mutation and 3 kinds of complex mutation were found, mainly included c. 1376 G>T (61.85%), c.1388 G>A (23.41%) and c.95 A>G (4.34%). In addition, 1 case of c.86 C>T mutation was detected. The incidence of G6PD deficiency is high in Hainan Li Nationality, and the mutation rate of G6PD is the highest in Baoting area. The three of G6PD mutations at c.1376 G>T, c.1388 G>A and c.95 A>G are the most common variants. The research of G6PD gene mutation may provide useful data for the diagnosis, prevention and treatment of neonatal hemolytic disease, jaundice and favism in high-incidence area of G6PD deficiency.

关 键 词：葡萄糖-6-磷酸脱氢酶 黎族 基因突变 多色探针荧光PCR熔解曲线法 

分 类 号：Q78[生物学—分子生物学] R346[医药卫生—基础医学]