某地区地中海贫血的分子流行病学调查

Molecular Epidemiology Survey of Thalassemia in Shaoguan Region of Guangdong Province

目的调查广东韶关地区α、β地中海贫血基因型及构成比。方法采用Gap-PCR检测--SEA、-α3.7、-α4.2三种常见的α地贫基因,PCR-RDB检测17种常见的β地贫基因。结果共检出地贫基因携带者1579例,其中α地贫982例(35.68%),8种基因型。β地贫597例(21.69%),13种基因型。αβ复合型地贫54例(1.96%)。结论广东韶关地区α地贫以αα/--SEA为主,β地贫以CD41-42(-TCTT)、IVS-Ⅱ-654(C-T)为主,为进行遗传咨询和制定地中海贫血预防措施提供了科学依据。

Objective To investigate theαandβthalassemia genotypes and their ratios in Shaoguan region of Guangdong province. Methods Using Gap-PCR to detect --^SEA、-α^3.7、-α^4.2 thalassemia gene and PCR-RDB to detect 17 kinds of β thalassemia gene. Results Thalassemia gene carriers were detected in 1579 cases,αthalassemia were detected in 982 cases（35.68%）, eight genotypes.βthalassemia were detected in 597 cases（21.69%）, 13 kinds of genotype,αcombinedβthalassemia were detected in 54 cases（1.96%）.Conclusions The major Genotype ofαandβthalassemia respectivelyαα/--SEA、CD41-42 （-TTCT）and IVS-Ⅱ-654（C-T） in shaoguan. For the purpose of genetic counseling and the development of thalassemia preventive measures provide a scientific basis.