云南省德宏州傣族人群葡萄糖-6-磷酸脱氢酶基因突变类型与酶活性关联分析  

An analysis of the association of glucose-6-phosphate dehydrogenase gene mutation type and enzyme activity in Dai nationality of Dehong prefecture,Yunnan province

作　　者：杨炬华 张小来 倪俊学[3] 张杰[4] 贺铭 刘永幸 陈新超 徐咏梅 唐树萍 YANG Juhua;ZHANG Xiaolai;NI Junxue(School of Clinical Medicine,Dali University,Dali 671000,CHINA)

机构地区：[1]大理大学临床医学院,云南671000 [2]福建省儿童医院重症医学科 [3]云南省第一人民医院儿科 [4]云南省第一人民医院医学遗传科 [5]昆明医科大学基础医学院生物化学与分子生物学系 [6]盈江县妇幼保健院院长办公室 [7]德宏州妇幼保健院检验科 [8]德宏州妇幼保健院妇产科

出　　处：《江苏医药》2022年第4期337-340,共4页Jiangsu Medical Journal

基　　金：国家自然科学基金(81860040)。

摘　　要：目的探讨云南省德宏州傣族人群葡萄糖-6-磷酸脱氢酶(G6PD)基因突变类型与其酶活性的关联.方法随机选取傣族育龄人群1009例,对G6 PD基因常见的14个突变位点采用二代基因测序检测基因突变类型,采用荧光斑点法检测G6PD酶活性.对不同G6PD基因突变类型者酶活性进行分析和比较.结果1009例样本中,共检出508例样本出现G6PD基因突变,共有39种G6PD基因突变类型.其中,最常见的5种基因突变类型为c.1311C>T、c.487G>A、c.1388G>A、c.392G>T和c.1376G>T,G6PD酶活性分析发现均为Ⅲ类和Ⅳ类,以Ⅳ类为主(占84.4%).G6PD c.1311C>T基因突变者的酶活性高于c.487G>A、c.1388G>A、c.392G>T和c.1376G>T基因突变者(P<0.05).不同性别G6PD c.1311C>T、c.487G>A、c.1388G>A和c.1376G>T基因突变类型的酶活性分类比较有统计学差异(P<0.05),而c.392G>T基因突变类型的酶活性分类比较无统计学差异(P>0.05).结论云南省德宏州傣族人群G6PD常见基因突变类型为c.1311C>T、c.487G>A、c.1388G>A、c.392G>T和c.1376G>T,该人群的G6PD酶活性分类为Ⅲ类和Ⅳ类,以Ⅳ类为主,表明该人群大部分携带者不表现出临床症状.Objective To investigate the association of glucose 6 phosphate dehydrogenase(G6PD)gene mutation and its enzyme activity in the Dai nationality of Dehong prefecture,Y unnan province.Methods A total of 1009 cases with childbearing age in Dai nationality were randomly selected,the second generation gene sequencing was used to detect the gene mutation type of 14 common mutation sites of G6PD gene,and G6PD enzyme activity was detected by fluorescent spot method.The enzyme activities of different G6PD gene mutation types were analyzed and compared.Results Among the 1009 samples,508 samples were detected with G6PD gene mutation,of which 39 types of G6PD gene mutation were seen.The top five common gene mutation types were C.1311C>T,c.487G>A,c.1388G>A,c.392G>T and c.1376G>T.The en enzyme activity of the five common G6PD gene mutation types was classified into type Ⅲ and type Ⅳ,mainly type Ⅳ(84.4%).The enzyme activity of G6PD c.1311C>T mutant was higher than that of c.487G>A,c.1388G>A,c.392G>T and c.1376G>T mutants(P<0.05).The classification of enzyme activity of G6PD c.1311C>T,c.487G>A,c.1388G>A and c.1376G>T gene mutation types had statistically sex differences(P<0.05),while c.392G>T gene mutation type had no statistical difference in the classification of enzyme activity(P>0.05).Conclusion The common gene mutation types of G6PD in the Dai nationality in Dehong prefecture,Yunnan province are c.1311C>T,c.487G>A,c.1388G>A,c.392G>T and c.1376G>T.The classifications of G6PD enzyme activity of the five common G6PD gene mutation types are type Ⅲ and type Ⅳ,mainly type Ⅳ,indicating that the most of the carriers in this population does not show clinical symptoms.

关 键 词：葡萄糖-6-磷酸脱氢酶缺乏症 基因突变 傣族人群 

分 类 号：R596[医药卫生—内科学]