粤西地区非缺失型a地中海贫血分子流行病学分析

Molecular epidemiological analysis of non-deletion type a thalassemia in Western Guangdong

目的调查广东省粤西地区(包括湛江,茂名)育龄人群中常见非缺失型α地中海贫血基因携带率及分布特征。方法连续采集粤西地区(包括湛江,茂名)3758例计划试管婴儿助孕夫妇外周静脉血进行常规地贫基因筛查检测血样本中的αCSα、αQSα、αWSα3种突变基因,对直接筛查出62例阳性标本进一步进行常见3种非缺失型α地中海贫血基因分析。结果育龄人群中常见非缺失型α地中海贫血基因携带率为1.65%,其中常见3种缺失型α地中海贫血中αWS位点突变(杂合子)基因型为αWSα/αα占0.98%,CS位点突变(杂合子)基因型为αCSα/αα占0.29%,QS位点突变(杂合子)基因型为αQSα/αα占0.27%,WS、CS位点双重突变(双重杂合子),基因型为αCSα/αWSα占0.03%,检测到α2珠蛋白CS位点突变(纯合子),基因型为αCSα/αCSα占0.03%,检测到α2珠蛋白QS位点突变(纯合子),基因型为αQSα/αQSα占0.03%,检测到α2珠蛋白WS位点突变(纯合子)基因型为αWSα/αWSα占0.03%。结论本文赘述阐明了粤西地区育龄人群中常见非缺失型α地中海贫血分子流行病学情况,为本地区开展地中海贫血的防御提供了重要的科学依据。

Objective To investigate the prevalence and distribution characteristics of non-deleted alpha-thalassemia gene in the reproductive age population of Western Guangdong (including Zhanjiang and Maoming). Methods The peripheral venous blood samples of 3 758 couples in Western Guangdong (including Zhanjiang and Maoming) were collected for routine thalassemia gene screening to detect,QS,WS 16 Anemia gene analysis. Results The carrying rate of common non-deletion alpha-thalassemia gene was 1.65%.Among the three deletion alpha-thalassemia genotypes,α WS site mutation (heterozygote) accounted for 0.98%,CS site mutation (heterozygote) for 0.29%,and QS site mutation (heterozygote) for 0.29%.The genotype was QS_/CS_ The mutation (homozygote) at the site of alpha 2 globin WS was detected in 0.03% of the patients with S/QS and 0.03% of the patients with WS/WS genotype. Conclusion The molecular epidemiology of non-deletion alpha-thalassemia in the population of childbearing age in Western Guangdong is elucidated in this paper,which provides an important scientific basis for the prevention of thalassemia in this region.