佛山地区非缺失型α地中海贫血基因突变分析

Analysis on gene mutations of non-deletion α thalassemia in Foshan

目的了解广东佛山地区非缺失型α-地中海贫血的基因突变类型及构成比,以及其在临床检测的必要性。方法受检对象应用反向点杂交法检测三种非缺失型α-地贫基因突变。结果 3225例标本中有113例检测到携带突变基因,其中ααQS/αα29例、ααWS/αα45例、ααCS/αα25例、ααQS/--SEA1例、ααCS/--SEA7例、ααw S/--SEA6例,大约3.5%受检者能确诊为非缺失型α-地贫携带。结论初步阐明佛山地区非缺失型α-地贫的基因突变类型和构成比,提高了α-地贫检出率,为非缺失型α地贫基因检测必要性提供了理论依据。

Objective：To explore the gene mutation types and constiuent ratio of non-deletion α thalassemia,and the necessity of genetic testing services of non-deletion α thalassemia in clinic. Methods：The gene mutation types and gene frequencies of 3225 samples were analyzed by reverse dot blot hybridization（PCR-RDB）. Results：Among the 3225 cases,113 cases were determined,including 29 cases of αα^QSαα,45 cases of αα^WSαα,25 cases of αα^CSαα,one case of αα^QS--^SEA,7 case of αα^CS--^SEA and 6 case of αα^WS--^SEA. About 3.5% of them are carriers of non-deletion α thalassaemia. Conclusions：The gene mutation types and constiuent ratio of non-deletion α thalassemia are preliminarily clarified,and the results provide a theoretical basis for the genetic testing services of non-deletion α thalassemia in clinic.