深圳地区不孕不育患者α、β地中海贫血分子流行病学回顾性分析  

A retrospective survey on molecular epidemiological of α and β thalassemia among infertile patients in Shenzhen City

作　　者：王丽娟 朱元昌 尹彪 蔡靖 吴彤华 李观贵 胡晓东 曾勇 

机构地区：[1]深圳中山泌尿外科医院生殖医学中心,深圳中山生殖与遗传研究所,广东深圳518001

出　　处：《中国优生与遗传杂志》2013年第2期17-19,共3页Chinese Journal of Birth Health & Heredity

基　　金：广东省医学科学技术研究基金(项目编号:A2009626;项目编号:B2010292);深港创新圈(项目编号:ZYB200907090141A)

摘　　要：目的回顾性分析深圳地区不孕不育患者α、β地中海贫血的携带率及基因类型。方法采集7358例不孕不育患者外周血,通过单管多重PCR(Gap-PCR)及DNA反向斑点杂交(reverse dot blot,RDB)方法,分析缺失型α-和突变型β-地中海贫血的基因类型。结果深圳不孕不育患者α、β地中海贫血基因总携带率为9.01%,缺失型α-地中海贫血基因携带率为6.58%,突变型β-地中海贫血基因携带率为2.69%,α、β-复合型地中海贫血基因携带率为0.27%。在缺失型α-地中海贫血中,--SEA/αα、-α3.7/αα、-α4.2/αα3种基因型检出率最高,占总缺失型的98.55%;β-地中海贫血中主要的5种基因型分别是CD41-42/N、654/N、-28/N、CD17/N、βE/N,占β-地中海贫血的92.42%。结论深圳地区不孕不育患者地中海贫血发病率较高,该研究为本地区不孕不育人群开展遗传咨询、植入前遗传学诊断和产前诊断等提供有价值的基础资料。Objective： To investigate and evaluate the gene carrier rate,mutation types of α and β thalassemia among infertile patients in Shenzhen City.Methods： Peripheral venous blood samples were collected from 7358 infertile patients.Deletion genotypes of α thalassemia were determined by using Gap-PCR and electrophoresis assay,β thalassemia genotyping were diagnosed by PCR combined with reverse dot blot（RBD） method.Results： After analyzed,the thalassemia total carrier rate of infertile patients was 9.01% in Shenzhen city,6.58% for α thalassemia,2.69% for β thalassemia mutation and 0.27% for β thalassemia combining α thalassemia.The three prioritized genotypes of α thalassemia were——SEA/αα,-α3.7/αα,-α4.2/αα,account for 98.55%.The most common five types of β thalassemia mutation in Shenzhen were CD41-42（-TCTT）,IVS-II-654（C→T）,-28（A→G）,CD17（A→T）,βE CD26（G→A）,which was 92.42%.Conclusions： The incidence of thalassemia among infertile patients in Shenzhen City was high.Investigated results provided valuable basic data for genetic counseling,preimplantation genetic diagnosis and antenatal diagnosis.

关 键 词：Α-地中海贫血 Β-地中海贫血 单管多重PCR 反向斑点杂交 

分 类 号：R556.61[医药卫生—血液循环系统疾病] R711.6[医药卫生—内科学]