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目的了解β-地中海贫血在贵州从江县侗族、江口县土家族中的基因类型特点、基因型频率及分布规律。方法采用抗碱血红蛋白(HbF)和血红蛋白A2(HbA2)定量测定对人群进行β-地中海贫血初筛,同时应用全自动血细胞分析仪进行RBC、Hb、HCT、MCV、MCH、MCHC、RDW等7项血液学指标分析,用常规酚-氯仿抽提法提取筛查阳性受检者DNA,经PCR-反向点杂交法对β珠蛋白基因进行突变分析。结果受检982人中,共检出52例β-地中海贫血携带者,总检出率为5.27%,其中侗族、土家族检出率分别为7.85%、2.68%;经β珠蛋白突变基因分析,在这两个民族中检出中国人常见3种突变类型:CD17(A→T)无义突变(39例,75.00%),CD41-42(TCTT)移码突变(12例,23.07%)和βE(Codon26)(1例,1.92%)。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,β珠蛋白基因变异情况很独特,可能与族内婚配、家族发病聚集性和通婚地域半径狭小有关。
Objective To investigate the genetype, genotype frequency and distribution of β-thalassemia in Tujia ethnic group in Dong and Jiangkou County, Congjiang County, Guizhou Province. Methods The β-thalassemia was detected by quantitative determination of HbF and HbA2, and 7 items of RBC, Hb, HCT, MCV, MCH, MCHC and RDW were also detected by automatic hematology analyzer Hematology index analysis, the conventional phenol - chloroform extraction method for screening positive subjects DNA, PCR-reverse dot hybridization of β-globin gene mutation analysis. Results Of the 982 subjects examined, 52 cases of β-thalassemia carriers were detected with a total detection rate of 5.27%. Among them, the detection rates of Dong and Tujia families were 7.85% and 2.68%, respectively. The β-globin gene mutation Three common types of mutations were detected in these two ethnic groups: CD17 (A → T) nonsense mutation (39 cases, 75.00%), CD41-42 (TCTT) frameshift mutation (12 cases, 23.07% And βE (Codon 26) (1 patient, 1.92%). Conclusion There is a high incidence of β-thalassemia among ethnic minorities in Guizhou Province. The types of gene mutation have significant ethnic characteristics. The variation of β-globin gene is very unique, which may be related to the marriage within the family, the clustering of familial incidence and the regional radius of intermarriage Small related.