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。
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.
出处
《检验医学与临床》
CAS
2013年第22期2958-2959,共2页
Laboratory Medicine and Clinic
基金
广东省深圳市盐田区科技计划资助项目(201111)
