肇庆地区地中海贫血基因型分析

Analysis of thalassemia genotype in Zhaoqing area.

目的调查肇庆地区地中海贫血(地贫)基因型及构成比。方法标本首先用血液学方法进行筛查,阳性者再利用Gap-PCR技术及反向斑点杂交技术,进行α及β地贫基因检测。结果 8751例标本中初筛阳性经基因确诊者839例,其中α地贫479例,占57.1%;以--SEA/αα为主,占75.37%,-α3.7/αα较-α4.2/αα多见,HbH病也占相当比例(11.9%)。β地贫339例,占40.4%;共检出10种突变类型和18种基因型,以CD41-42/N、ⅣS-Ⅱ1654/N、CD17/N、-28/N、CD71-72/N最为常见,占所有突变类型的89.07%。α合并β地贫21例,占2.5%。结论对肇庆地区地贫的基因型及构成比进行研究,可以为遗传咨询及本地区地贫预防计划奠定基础,对预防重型地贫患儿的出生有重要意义。

Objective：Investigating thalassemia genotype and constituent ratio in Zhaoqing area.Methods： Specimens were screened first by hematological methods,in which positive samples were further detected α and β thalassemia gene by using gap-PCR and reverse dot blotting method.Results：839 cases of thalassemia were identified among total 8751 cases,479 cases were with α-thalassemia（57.1%）;——SEA/αα mainly（75.37%）,-α3.7/αα were more common than the-α4.2/αα,the HbH disease also accounted for a substantial proportion（11.9%）.339 cases were with β thalassemia（40.4%）;which including 10 mutation types and 18 genotypes,the most common types of mutation are CD41-42 / N,ⅣS-Ⅱ1654/N,CD17 / N,-28 / N,CD71-72 / N,account for 89.07%.21 cases were with compound α and β thalassemia（2.5%）.Conclusion： Studying zhaoqing area thalassemia genotype and constituent ratio,would be useful for genetic counseling and thalassemia prevention program in this area,it also has great significance for the prevention the birth with severe case of thalassemia.