云南省盈江县傣族孕龄人群G6PD缺乏症的常见基因型筛查及临床特征  

Common Genotypes Screening and Clinical Characteristics of G6PD Deficiency in Dai People of Gestational Age in Yingjiang,Yunnan Province

作　　者：陈新超 蒋洁晗 熊庆[2] 吴秋华 张素英 杨必辉 张杰[4] 段艳香 贺铭 CHEN Xinchao;JIANG Jiehan;XIONG Qing;WU Qiuhua;ZHANG Suying;YANG Bihui;ZHANG Jie;DUAN Yanxiang;HE Ming(Maternal and Child Health Hospital of Yingjiang County,Yingjiang Yunnan 679300;Environmental Health Center,Yunnan Provincial Center for Disease Control and Prevention,Kunming Yunnan 650022;Health Center of Nongzhang,Yingjiang County,Yingjiang Yunnan 679300;Dept.of Medical Genetics,The 1st People’s Hospital of Yunnan Province,Kunming Yunnan 650032;Dept.of Biochemistry and Molecular Biology,School of Basic Medicine,Kunming Medical University,Kunming Yunnan 650500,China)

机构地区：[1]德宏州盈江县妇幼保健院,云南盈江679300 [2]云南省疾病预防控制中心环境卫生所,云南昆明650022 [3]德宏州盈江县弄璋卫生院,云南盈江679300 [4]云南省第一人民医院医学遗传科,云南昆明650032 [5]昆明医科大学基础医学院生物化学与分子生物学系,云南昆明650500

出　　处：《昆明医科大学学报》2023年第7期16-21,共6页Journal of Kunming Medical University

基　　金：国家自然科学基金资助项目(82160319,81860040)。

摘　　要：目的分析云南省盈江县傣族人群葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的筛查结果及基因型分布特征,为其防治提供科学理论依据。方法采用荧光斑点法(FST)对盈江县傣族孕龄人群416例样本定量检测G6PD酶活性并用二代测序技术(NGS)进行G6PD基因型检测;对基因型与临床表型进行统计学分析。结果使用G6PD酶活性检测416例样本,其阳性率为22.12%,其中男性27.42%,女性17.83%,差异具有统计学意义(P<0.05);对416例样本进行NGS检测,检出8种常见基因突变类型:c.1311C>T、c.487G>A、c.1388G>A、c.392G>T、c.1376G>T、c.143T>C、c.1024C>T,c.1311C>T突变在盈江地区携带率为33.17%。NGS和FST检测的阳性率分别为53.13%和22.12%。2种方法的结果一致性较差(Kappa=0.280)。c.1311C>T突变酶活性多正常,如若不计c.1311C>T突变,2种方法对于男性样本结果一致性较好(Kappa=0.658)高于女性(Kappa=0.233)。结论云南省盈江县傣族人群G6PD缺乏症携带率高,基因突变主要以c.1311C>T、c.487G>A、c.1388G>A、c.392G>T、c.1376G>T为主,c.1311C>T突变与G6PD酶活性多为正常。采用NGS能同时检测德宏州盈江县傣族常见的突变类型,明显提高检测的阳性率,FST对女性杂合和复合杂合突变均有漏检,对男性半合子突变有较高检出率。Objective To analyze the screening results and genotype distribution characteristics of glucose-6-phosphate dehydrogenase(G6PD)deficiency among Dai people in Yingjiang County,Yunnan Province,and to provide a scientific theoretical basis for its prevention and treatment.Methods The G6PD enzyme activity was quantitatively detected in 416 samples of gestational age population of Dai nationality in Yingjiang County by fluorescent spot test(FST),and the G6PD genotype was detected by next-generation gene sequencing(NGS)technology.The genotype and clinical phenotype were statistically analyzed.Results The G6PD enzyme activity was detected in 416 samples,and the positive rate was 22.12%,of which 27.42%were male and 17.83%were female,and the difference was statistically significant(P<0.05).Eight common gene mutation types were identified:c.1311C>T,c.487G>A,c.1388G>A,c.392G>T,c.1376G>T,c.143T>C,c.1024C>T.The carrier rate of c.1311C>T mutation in Yingjiang area was 33.17%.The positive rates of NGS and FST were 53.13%and 22.12%,respectively,and the results of the two methods were poorly consistent(Kappa=0.280).The enzyme activity of the c.1311C>T mutation is mostly normal.If the c.1311C>T mutation is not considered,the results of the two methods are more consistent for male samples(Kappa=0.658)than for females(Kappa=0.233).Conclusions The carrier rate of G6PD deficiency is high in the Dai population in Yingjiang County,Yunnan Province.The gene mutations are mainly c.1311C>T,c.487G>A,c.1388G>A,c.392G>T,and c.1376G>T.c.1311C>T mutation and G6PD enzyme activity are mostly normal.The second-generation sequencing technology can simultaneously detect the common mutation types of the Dai people in Yingjiang County,Dehong Prefecture,and significantly improve the positive rate of detection.The fluorescent spot method may miss both female heterozygous and compound heterozygous mutations,and has a higher detection rate for male hemizygous mutations.

关 键 词：G6PD缺乏症 二代测序技术 荧光斑点法 

分 类 号：R715.5[医药卫生—妇产科学]