广东部分地区孕前人群地中海贫血基因型分布状况调查  

Investigation on genotype of thalassemia genes of pre-pregnancy population in Guangdong province

作　　者：赵文忠[1] 李铭臻[1] 顾恒[1] 周冰燚[1] 朱志勇[1] 郑立新[1] 

机构地区：[1]广东省计划生育科学技术研究所,广州510600

出　　处：《中国优生与遗传杂志》2015年第6期28-29,共2页Chinese Journal of Birth Health & Heredity

基　　金：广东省科技计划项目(2011B060300035);广东省计划生育科技项目(20110207)

摘　　要：目的进一步了解近年来广东孕前人群地中海贫血基因型分布情况,预防和控制广东地区重型及中间型地贫患儿出生。方法利用聚合酶链反应(PCR)和膜杂交法对2013年1月到6月送检到我中心的2796例疑似地贫患者进行α-与β-地中海贫血的基因型分析。结果在通过基因检测确诊的2178例地中海贫血患者中,α,β,αβ复合型地中海贫血分别为1417、655和106例。在1417例α-地中海贫血患者中,缺失型是其最主要的突变类型,主要包括--SEA/αα(77.6%),-α3.7/αα(10.6%)及-α4.2/αα(4%)。在546例β-地中海贫血中,主要包括CD41-42(37.4%)、IVS-Ⅱ654(25.8%)、IVS-Ⅱ-28(16.8%)。结论本次调查阐明了广东地区α-与β-地中海贫血致病基因突变类型及构成比,为有效降低中间型地贫,基本避免重症地中海贫血患儿出生,提高我省出生人口素质,及制定地贫干预计划提供了有价值的基础资料。Objective： In order to reveal the distribution of the thalassemia genotype of pre-pregnancy population in Guangdong province and to prevent the birth rates of thalassemia major and thalassemia intermedia. Methods： Polymerase chain reaction and hybridization were used to analyse 2796 suspective thalassemia cases which were brought to our unit from January to June in 2013. Results： In the 2796 cases, 2178 cases were diagnosed as thalassemia, including 1417 of α-thal, 655 of β-thal and 106 of al3-thal. In the 1414 a-thai cases, deletions were the dominant mutations, including 77.6% of --SEA/aa, 10.6% of -α3.7/ aa and 4% of -α4.2/αα. In the 546 β-thal cases, including 37.4% of CD41-42, 25.8% of IVS-Ⅱ 654 and 16.8% of IVS- Ⅱ-28. Conclusion： Our investigation indicated the distribution of α and β-tha genotype and mutation type, which could prevent the birth rates of thalassemia major and thalassemia intermedia, improve the quality of newborn population, and provide valuable fundamental data for the genetic counseling and the thalassemia prevention plan in Guangdong province. Key words： Thalassemia; Genedetection： Guangdong

关 键 词：地中海贫血 基因检测 广东 

分 类 号：R556.61[医药卫生—血液循环系统疾病]