CAJ | 학술논문

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。
목적：료해심수염전구G6PD결핍증적류행현상、기인돌변보，탐토기진단방법급류정。방법채용G6PD/6PGD정량비치법검측G6PD매활성，반향점잡교급DNA측서검측G6PD기인돌변。결과해구G6PD기인돌변인군휴대솔위4．50％，기인돌변이c ．1388G＞A、c ．1376G＞ T 화c ．95A＞ G위주。결론해구위포함기타한견혹소견돌변류형적복잡G6PD기인돌변보，기우G6PD매활성적표형사사유명현적루검솔，기인검측결합표형사사가대대제고진단준학성여가고성。
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 .