基因缺失型α-地中海贫血分子诊断研究进展

Advances in molecular diagnosis of gene-deletion alpha-thalassemia

地中海贫血(地贫)是我国南方最常见和危害最大的遗传病之一,其中,基因缺失型α-地贫是其主要类型之一。由于本病的普遍性,且目前缺乏有效治疗手段,通过人群筛查,筛选高危人群实施孕期产前诊断,以阻止重症患儿出生是当前国内外公认的首选预防措施,因此,准确有效、简单实用的分子诊断技术,是实施人群筛查、产前诊断及常规分子诊断的关键与前提。本文就当前基因缺失型α-地贫分子诊断的方法学研究进展进行综述,以供参考。

Thalassemia is one of the commonest and most hazardous inherited disease in the southern district of china,and the gene-deletion alpha-thalassemia is one of the main type.For the universality of this disorder and lack of efficient treatment,the generally accepted preventive measure is to prevent the born of severe cases by popular screening,high risk population screen and prenatal diagnosis.In order to efficiently practice the popular screening,prenatal and routine diagnosis,the critical precondition is the molecular diagnosis technique with high quality and simple operation.In this paper,the advanced in molecular diagnosis of gene-deletion alpha-thalassemia is reviewed.