海南省澄迈县人群G6PD缺乏症基因突变分析  

Genotyping analysis in G6PD deficiency population in Chengmai area of Hainan province

作　　者：陈开科[1] 符菊秀 熊先会 卢玲琳 梁海萍[1] 卓晓芳[1] 罗慎[1] 蔡望伟[2] 颜冬菁[2] 

机构地区：[1]海南医学院理学院,海南海口571199 [2]海南医学院理学院生化与分子生物学教研室,海南海口571199

出　　处：《基础医学与临床》2016年第9期1222-1226,共5页Basic and Clinical Medicine

基　　金：国家级大学生创新创业训练计划(201311810051);海南医学院人才引进基金(2013005);海南医学院创新实验计划(HYCX201218);海南省科技计划(081014)

摘　　要：目的分析海南省澄迈县人群葡萄糖-6-磷酸脱氢酶缺乏症(G6PD)的发病率及基因突变类型。方法用Zinkham法对1 299例(男650例,女649例)标本进行G6PD缺乏筛查;用多色探针荧光PCR熔解曲线法对初筛的阳性标本进行中国人常见的16种G6PD基因突变类型检测,对未检出突变的标本进行外显子测序。结果澄迈县人群的G6PD缺乏症总发生率为5.54%(72/1 299),其中男性发生率为6.62%(43/650),女性发生率为4.47%(29/649)。72例阳性标本中有61例检测出有突变,共检出6种基因点突变,含24例1 376 G>T(33.33%),19例1 388 G>A(26.39%),4例95 A>G(5.56%),6例1 024 C>T(8.33%),4例392 G>T(5.56%),3例871 G>A(4.17%),1例1 376 G>T复合1 388 G>A突变(1.39%)。未检出突变的11例(15.28%)标本经外显子测序未发现新突变。结论澄迈县G6PD缺乏症发生率高,以1 376 G>T和1 388 G>A突变基因型为主。Objective To analyze the prevalence and the genotypic mutant characteristics of G6PD deficiency in Chengmai area of Hainan province. Methods The G6PD enzyme activity of a total of 1 299 subjects consisting of 650 males and 649 females were determined by Zinkham method. All the positive samples were subjected to geno- type by a melting curve analysis-based PCR assay for 16 known common mutations in Chinese population. The neg- ative samples were sequenced for exons. Results The prevalence of G6PD deficiency in Chengmai area was 5.54% （72/1 299）. Of 650 males and 649 females tested, 6. 62% （43/650） and 4.47% （29/649） were found to have G6PD deficiency, respectively. Of the 72 G6PD deficient subjects genotyped, 61 subjects had mu- tation. 6 kinds of mutation were indentified including 24 cases of 1 376 G 〉 T（33.33% ）, 19 cases of 1 388 G 〉 A （26. 39%）, 4 cases of 95 A 〉G（5.56%）, 6 cases of 1 024 C 〉T（8.33%）, 4 cases of 392 G 〉T（5.56%）, 3cases of 871 G 〉 A（4. 17% ）, 1 case of 1 376 G 〉 T combined with 1 388 G 〉 A（ 1.39% ）. No new mutation was found in the 11 cases of unknown mutations（ 15.28% ）. Conelmions The incidence of G6PD deficiency is high in Chengmai. area with 1 376 G 〉 T and 1 388 G 〉 A as the most common variants in this area.

关 键 词：G6PD缺乏症 基因突变 多色探针荧光PCR熔解曲线 分子诊断 

分 类 号：R596[医药卫生—内科学]