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深圳盐田地区G6PD缺乏症发病率与基因突变调查
引用本文:蒋明,候家兴,李春龙,陈丕绩. 深圳盐田地区G6PD缺乏症发病率与基因突变调查[J]. 检验医学与临床, 2013, 0(22): 2958-2959
作者姓名:蒋明  候家兴  李春龙  陈丕绩
作者单位:[1]广东省深圳市盐田区人民医院,518081 [2]广东省深圳市盐田区妇幼保健院,518081
基金项目:广东省深圳市盐田区科技计划资助项目(201111).
摘    要:目的了解深圳盐田区G6PD缺乏症的流行现状、基因突变谱,探讨其诊断方法及流程。方法采用G6PD/6PGD定量比值法检测G6PD酶活性,反向点杂交及DNA测序检测G6PD基因突变。结果该区G6PD基因突变人群携带率为4.50%,基因突变以C.1388G〉A、c.1376G〉T和c.95A〉G为主。结论该区为包含其他罕见或少见突变类型的复杂G6PD基因突变谱,基于G6PD酶活性的表型筛查有明显的漏检率,基因检测结合表型筛查可大大提高诊断准确性与可靠性。

关 键 词:G6PD缺乏  基因突变  筛查

A survey of G6PD deficiency incidence rate and gene mutation in Yantian district of Shenzhen city
J IANG Ming,HOU J ia-xing,LI Chun-long,CHEN Pi-ji. A survey of G6PD deficiency incidence rate and gene mutation in Yantian district of Shenzhen city[J]. Laboratory Medicine and Clinic, 2013, 0(22): 2958-2959
Authors:J IANG Ming  HOU J ia-xing  LI Chun-long  CHEN Pi-ji
Affiliation:1. Shenzhen Seventh (Yantian District) People's" Hospital, Shenz- hen, Guangdong 518081, China 2. Shenzhen Yantian District Maternal and Child Health Care Service Centre, Shenzhen , Guang don g 518081, China)
Abstract:Objective To understand the prevalence and gene mutation spectrum of G6PD deficiency in Yan- tian district of Shenzhen City,and discuss the diagnosis methods and processes of G6PD deficiency. Methods The G6PD enzyme activities were detected with G6PD/6PGD quantitative ratio method. The G6PD gene mutations were analyzed with reverse dot blotting and DNA sequencing method. Results The G6PD gene mutation carrying rate of this district was 4. 25% ,while the main gene mutations were C. 1388G〉A,C. 1376G 〉T and C. 95 A〉G. Conclu- sion The G6PD gene mutation spectrum of this district is complex which includes rare mutation types. The pheno- type screening strategy which based on G6PD enzyme activity has obvious omission rate, and the combining of pheno- type screening with genetic testing can greatly improve diagnostic accuracy and reliability.
Keywords:G6PD deficiency  gene mutation  screening
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