某地区非缺失型α珠蛋白生成障碍性贫血基因型在珠蛋白生成障碍性贫血防控中的应用  

Application of non-deletion α-thalassemia genotypes in the prevention and control of thalassemia in a city

作　　者：王丽媛 彭晓建 田金蓉 倪秀静 曾敬富 WANG Liyuan;PENG Xiaojian;TIAN Jinrong;NI Xiujing;ZENG Jingfu(Kunming Jinyu Medical Laboratory Co.,Ltd.,Kunming,Yunnan 650500,China)

机构地区：[1]昆明金域医学检验所有限公司,云南昆明650500

出　　处：《检验医学与临床》2022年第S02期10-13,共4页Laboratory Medicine and Clinic

基　　金：云南省昆明市卫生健康委员会审批项目(2020-11-01-121)。

摘　　要：目的探讨云南地区非缺失型α珠蛋白生成障碍性贫血基因型在珠蛋白生成障碍性贫血(简称“地贫”)防控中的应用。方法采用PCR+膜杂交法对受检标本进行α^(WS)α、α^(CS)α、α^(QS) 3种常见的非缺失型α地贫基因突变检测。结果18587例受检者中共检出非缺失型364例,阳性率为1.96%。结论该研究初步阐明了云南地区非缺失型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 explore the application of non-deletion α-thalassemia genotypes in the prevention and control of thalassemia in Yunnan.Methods PCR+membrane hybridization method was used to detect α^(WS)α,α^(CS)α,α^(QS) three common non-deletionα-thalassemia gene mutations.Results A total of 364 cases of non-deletion type were detected in 18587 subjects,and the positive rate was 1.96%.Conclusion This study preliminarily clarified the distribution characteristics of non-deletionα-thalassemia genes in Yunnan,and provided a reference for formulating effective and feasible thalassaemia prevention and control strategies in this region.

关 键 词：非缺失型 α珠蛋白生成障碍性贫血 基因型 珠蛋白生成障碍性贫血 

分 类 号：R556[医药卫生—血液循环系统疾病]