少数民族β-地中海贫血基因突变型分布特点

Genotype distribution and characteristics of beta-thalassemia of Miao,Shui and Yaonationality

目的 了解 β-地中海贫血在贵州省苗族、水族、瑶族中的基因突变型特点、基因型频率及分布规律。 方法 采用“红细胞休克 -管定量法”测定红细胞脆性 ,HbF和HbA2定量等方法对人群进行 β -地中海贫血初筛 ,用常规酚 -氯仿抽提法提取 β地中海贫血携带者DNA ,经PCR -反向点杂交法对β株蛋白进行突变基因分析。 结果 受检 2 5 6 6人中 ,共检出 134例 β -地中海贫血携带者 ,总检出率为 5 2 2 % ,其中苗族、水族、瑶族检出率分别为 4 72 % ,6 0 6 % ,4 4 5 %。经β珠蛋白突变基因分析 ,在这 3个民族中仅检出两种中国人常见突变型CD41-42 和CD17,检出率分别为 88 1% ,6 0 0 % ,2 3%。结论 在贵州省少数民族中 β -地中海贫血有很高的发病率 ,基因突变类型具有显著的民族特征 。

Objective In order to get the information about genotypes of β-thalassemia were performed in three minorities of Guizhou province,an a large-scale screening and gene analysis of β-thalassemia in Miao,Shui and Yao people.Methods Red cell shocking one tube method was used to detect the erythrocyte brittleness.The HbF and HbA 2 was determined by the AM-electrophoresis to detect the heterogotes of β-thalassemia.DNA extracted from white bood cells with the rountine method,then amplified and analysed by PCR and RDB(reverse dot blot) hybridization.Results Among the 2、566 samples,134 heterozygotes were found out,the incidence of the beta-thalassemia was 5.22%,the incidences in Miao,Shui and Yao people was 4.72%,6.06%,4.45% respectively.By gene analysis the types of majority mutation found in this area were CD 41-42 (-TCTT) and CD 17 (A→T),the dection rate in the 3 minorities were 88.1%,60.6%,23%.Conclusion Beta-thalassemia had a high incidence in the minority of Guizhou,its genotypes had a marked nationality trait,the result also clewed that there were likely to exist unknown or infrequence mutation type in Guizhou minority.