国际医药卫生导报2013，Vol.19Issue(16)：2465-2467,3.DOI:10.3760/cma.j.issn.1007-1245.2013.16.006
1031例广州市育龄人群地中海贫血基因诊断分析
Genotypic analysis on 1031 cases of thalassemia in reproductive population in Guangzhou
摘要
Abstract
Objective To understand the gene mutation patterns and frequencies of thalassemia for improving birth outcome and child development.Methods Blood examination screened high risk population of thalassemia.Hemoglobin subtypes were detected by HPLC.α-thalassemia and β-thalassemia were tested by GAPPCR and reverse dot blot.Results 1031 cases of 1249 positive samples were diagnosed as thalassemia,including 700 cases (7.80％) of α-thalassemia,288 cases(3.21％) of β-thalassemia and 43 cases of mixed thalassemia.Conclusions Guangzhou is a region of high-prevalance of thalassemia.--SEAand CD41-42 are the most common thalassemia genotypes in Guangzhou city.The characteristics of α-,β-thalassemia genotype in Guangzhou are consistent with that in Guangdong province.It has significant value by screening the carriers of thalassemia in the public and giving them genetic diagnosis.关键词
地中海贫血/基因诊断/基因型Key words
Thalassemia/ Gene diagnosis/ Genotype引用本文复制引用
唐盈,陈桂兰,何聚莲,屈艳霞,江帆..1031例广州市育龄人群地中海贫血基因诊断分析[J].国际医药卫生导报,2013,19(16):2465-2467,3.基金项目
2010年广东省人口计生委科研项目(2010307) （2010307）
