昌江县地中海贫血的基因型分析

摘要

目的 了解昌江县地中海贫血的基因型及分布特点.方法 收集2015年2月至2017年4月在昌江县人民医院进行地中海贫血基因检测的1328人,采用Gap-PCR法检测3种常见的缺失型α地中海贫血基因和PCR反向点杂交(PCR-RDB)法检测17个常见突变位点的β地中海贫血基因,数据采用SPSS17.0统计软件进行分析.结果 昌江县地中海贫血检出率为33.43%,其中α地中海贫血占总地中海贫血的84.01%,前四位α地中海贫血的基因型及构成比分别是-α4.2/αα(36.46%)、-α3.7/αα(36.19%)、--SEA/αα(11.8%),-α3.7/-α4.2(7.77%);β地中海贫血占总地中海贫血的9.91%,检出四种突变类型,其基因型及构成比分别是CD41-42(63.64%)、IVSⅡ-654(15.91%)、-28(11.36%)、CD17(9.09%);αβ复合型地中海贫血27例,占总地中海贫血的6.08%,主要以CD41-42合并α4.2/αα和-α3.7/αα为主.结论 昌江县地中海贫血基因的检出率较高,以α地中海贫血居多,分布具有区域性的特点.%Objective To understand the genotypes and distribution characteristics of thalassemia in Changji-ang County. Methods From February 2015 to April 2017, 1328 people from Changjiang People's Hospital were exam-ined for the genetic test of thalassaemia. Gap-PCR was utilized to detect three common genes in deletionalα-thalassemia, and PCR-reverse dot blot (PCR-RDB) assay was applied to detect 17 common mutation sites inβ-thalassemia. SPSS17.0 software was used in the statistical analysis. Results The positive rate of thalassemia in Changjiang County was 33.43%, and α-thalassemia took up 84.01% in all detected thalassemia. The ranking genotypes in α-thalassemia were-α4.2/αα(36.46%),α3.7/αα(36.19%),--SEA/αα(11.8%) and-α3.7/-α4.2 (7.77%), respectively;β-thalassemia took up 9.91%in all de-tected thalassemia with four mutated types detected, namely, CD41-42 (63.64%), IVSⅡ-654 (15.91%),-28 (11.36%) and CD17 (9.09%);there were 27 cases ofα-βcompound type of thalassemia, with a proportion of 6.08%in all thalassemia cases. CD41-42 withα4.2/ααor-α3.7/ααwas the main form in genotype. Conclusion The positive rate of thalassemia gene is relatively high in Changjiang County with a major form ofα-thalassemia, and the distribution of thalassemia has regional characteristics.