【摘要】 目的　对贵州省西江苗族进行了一次大样本的 β地中海贫血筛查及基因分析。方法　采用 Hb F和Hb A2 定量测定对人群进行 β地中海贫血初筛 ,然后用常规酚—氯仿抽提法提取 β地中海贫血携带者 DNA,再经PCR—反向点杂交法对β珠蛋白进行突变基因分析。结果　在受检的 890人中 ,共检出β地中海贫血携带者 37例 ,发生率为 4.16 %。经基因分析该地人群的β地中海贫血基因突变类型主要为 CD41 - 4 2 (TCTT)移码突变(5 4.1% )和 CD1 7(A→ T)无义突变 (4 5 .9% )。结论　完成对贵州西江苗族进行的β地中海贫血调查 ,获取其流行病学资料及其基因类型特征 ,对该地人群进行婚姻指导、产前诊断、提高人口素质具有重要意义更多还原

【Abstract】 Objective We performed a large scale screening and gene analysis of β thalassemia in Guizhou Xijiang Miaozu.Methods The HbF and HbA 2 are determined by the AM electrophoresis to riddle the heterogotes of β thalassemia.DNA was extracted from white blood cells with the rountine method,then amplified and analysised by PCR and RDB (reverse dot blot) hybridization. Results Among the 890 samples,we find out 37 heterozygotes,the incidence of the β thalassemia is 4.16%,the types of majority mutation in this area are CD 41-42 (TCTT) (54.1%) and CD 17 (A→T)(45.9%).Conclusions We investigate the situation of Guizhou minority about β thalassemia successfully,get the information about it’s epidemilogy and genotypes.These researchs are significant to direct the local people’s marriage,prenatal diagnosis,people’s quality improvement.更多还原