广东清远地区非缺失型α珠蛋白生成障碍性贫血基因型分布调查  

Distribution investigation of non-deletion alpha thalassemia genotypes in Qingyuan area of Guangdong Province

作　　者：叶韵婕 林金端[2] 黄振勇[2] 刘红伟[1] YE Yunjie;LIN Jinduan;HUANG Zhenyong;LIU Hongwei(Department of Blood Transfusion,Sixth Affiliated Hospital of Guangzhou Medical University/Qingyuan Municipal People's Hospital,Qingyuan,Guangdong 511500,China;Molecular Diagnostics Centre,Sixth Affiliated Hospital of Guangzhou Medical University/Qingyuan Municipal People's Hospital,Qingyuan,Guangdong 511500,China)

机构地区：[1]广州医科大学附属第六医院/广东省清远市人民医院输血科,广东清远511500 [2]广州医科大学附属第六医院/广东省清远市人民医院分子诊断中心,广东清远511500

出　　处：《检验医学与临床》2020年第6期772-773,777,共3页Laboratory Medicine and Clinic

摘　　要：目的分析广东清远地区非缺失型α珠蛋白生成障碍性贫血(简称地贫)基因携带率、基因型分布以及等位基因构成比,探讨该地区非缺失型α地贫基因分布特征。方法采用PCR+膜杂交法对受检标本进行α^WSα、α^CSα、α^QSα3种常见的非缺失型α地贫基因突变检测。结果9047例受检者中共检出非缺失型α地贫256例,包括12种基因型,非缺失型α地贫基因携带率为2.83%;α^WSα、α^CSα、α^QSα等位基因构成比依次为48.84%、30.62%、20.54%。结论该研究初步阐明了广东清远地区非缺失型α地贫基因的分布特征,为该地区制订有效、可行的地贫防控策略提供了参考依据。Objective To analyze the carrying rate,genotypes distribution and allelic constituent ratios of non-deletion alpha thalassemia in Qingyuan area of Guangdong Province,and to investigate the distribution characteristics of non-deletion alpha thalassemia genes.Methods The three kinds of frequent non-deletion alpha thalassemia gene mutations were detected by adopting PCR plus membrane hybridization,including α^WSα,α^CSα and α^QSα.Results Among 9047 detected persons,256 cases of non-deletion alpha thalassemia were detected and were distributed to 12 genotypes,the carrying rate of non-deletion alpha thalassemia gene was 2.83%;the allelic constituent ratios of α^WSα,α^CSα and α^QSα were in turn 48.84%,30.62% and 20.54% respectively.Conclusion This study preliminarily clarifies the distribution characteristics of non-deletion alpha thalassemia in Qingyuan area of Guangdong Province,and provides a basis for formulating the effective and feasible prevention and control strategies of thalassemia in this region.

关 键 词：非缺失型 α珠蛋白生成障碍性贫血 携带率 基因型 

分 类 号：R556.6[医药卫生—血液循环系统疾病]