【摘要】 目的探讨云南新平傣族学龄前儿童β-地中海贫血的基因突变类型及其基因型频率特征。方法对407名傣族学龄前儿童进行血细胞分析,以平均红细胞体积(MCV)<80fl或平均血红蛋白量(MCH)<27pg为血液学表型初筛阳性样本进行血红蛋白电泳,HbA2>3.5%或HbF>2%为血红蛋白表型阳性样本进行14种东南亚常见基因分析。结果在407人中血液学筛查出235例进行血红蛋白电泳阳性60例在进行基因诊断分析,有21例得到确诊用检出5种突变基因,包括7种基因型常见的突变位点为41-42M(杂),基因型频率为47.62%;其余基因突变位点及其频率为:β-EM(14.29%),17M(9.52%),41-42M(纯)(9.52%),654M(杂)(9.52%),17/71-72M(双重杂)(4.76%),17/β-EM(双重杂)(4.76%)。结论初步探明了该地区学龄前儿童β-地中海贫血基因突变类型及基因型频率,获取其分子生物流行病学资料,为今后对该地人群进行疾病的防治、优生优育、遗传咨询、提高人口素质具有重要的指导意义。更多还原

【Abstract】 Objective: To investigate the types of genemutation and it′s frequency in β-thalassemia among Xinping Yunnan Dai people cheeper.Methods: The peripheral nenous blood samples from 407 Dai people cheepers were collected.The samples which the mean corpuscular volume(MCV) < 80fl or mean corpuscular hemoglobin(MCH) <27pg were choosed for Hemoglobin electrophoresis analysis,If HbA2>3.5 or HbF>2%,that was analyzed with genotypes analysis of 14 common on β-thalassemia southeast asian people.Results: 235 samples were positive among 407 blood analysis;60 haemologlobin electrophoresis samples were Molecular examined,subsequently 21 samples were positive including 5different β-thal mutations,which made of 7 kinds of genotype,simultaneity gene frequency respectively were 41-42MN(47.62%),β-EM(14.29%),17M(9.52%),41-42M(9.52%),654MN(9.52%),17/71-72M(4.76%),17/β-EM(4.76%).Conclusion: The study reveals the types of genemutation and gene frequency of β-thalassemia among Xinping Yunnan Dai people cheeper,simultaneity we get the Molecular epidemiological information of the β-thalassemia,what is significant in directing prevention and control,the marriage of local people,genetic counseling and population quality improvement.更多还原