基础医学与临床 ›› 2016, Vol. 36 ›› Issue (9): 1222-1226.

• 研究论文 • 上一篇    下一篇

海南省澄迈县人群G6PD缺乏症基因突变分析

陈开科,符菊秀,熊先会,卢玲琳,梁海萍,卓晓芳,罗慎,蔡望伟,颜冬菁   

  1. 海南医学院
  • 收稿日期:2015-11-09 修回日期:2016-01-03 出版日期:2016-09-05 发布日期:2016-08-30
  • 通讯作者: 颜冬菁 E-mail:yandongjing2013@163.com
  • 基金资助:
    国家级大学生创新创业训练计划项目;海南医学院人才引进基金项目;海南医学院创新实验计划项目;海南省科技计划项目

Genotyping analysis of G6PD deficiency in Chengmai area of Hainan province

  • Received:2015-11-09 Revised:2016-01-03 Online:2016-09-05 Published:2016-08-30

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1299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%(72/1299),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1376 G>T (33.33%),19例1388 G>A (26.39%),4例95 A>G (5.56%),6例1024 C>T (8.33%),4例392 G>T (5.56%),3例871 G>A (4.17%),1例1376 G>T复合1388 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1376 G>T和1388 G>A突变基因型为主。

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

Abstract: 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 1299 subjects consisting of 650 males and 649 females were determined by Zinkham method. All the positive samples were subjected to genotype by a melting curve analysis-based PCR assay for 16 known common mutations in Chinese population. Those samples with no detectable mutantions were sequenced in exons. Results The prevalence of G6PD deficiency in Chengmai area was 5.54% (72/1299). 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 mutation. 6 kinds of mutation were indentified including 24 cases of 1376 G>T (33.33%), 19 cases of 1388 G>A (26.39%), 4 cases of 95 A>G (5.56%), 6 cases of 1024 C>T (8.33%), 4 cases of 392 G>T (5.56%), 3 cases of 871 G>A (4.17%), 1 case of 1376 G>T combined with 1388 G>A (1.39%). No any new mutations could detected in the 11 cases of unknown mutations(15.28%). Conclusions The incidence of G6PD deficiency is high in Chengmai area. 1376 G>T and 1388 G>A are the most common variants in this area.

Key words: G6PD deficiency, gene mutation, melting curve analysis-based PCR assay, molecular diagnosis

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