海南省昌江县黎族育龄夫妇α-地中海贫血筛查和基因分析  

α-thalassemia screening and gene analysis in Li couples of childbearing age in Changjiang county of Hainan province

作　　者：王小英[1] 冯秋芳[1] 唐敏[1] 王咸寿 蔡望伟[2] 黄东爱[2] 

机构地区：[1]海南医学院生物技术专业实验室,海南海口571199 [2]海南医学院生物化学教研室

出　　处：《中国妇幼保健》2014年第24期3939-3941,共3页Maternal and Child Health Care of China

基　　金：海南省重点科技项目资助〔ZDXM20100096〕

摘　　要：目的:探讨海南省昌江县黎族育龄夫妇α-地中海贫血(α-地中海贫血)的携带率及基因型分布情况。方法:以血液学表型为MCV≤85f1和/或MCH≤27 pg为指标筛查疑似地中海贫血患者,应用gap-PCR法检测疑似地中海贫血患者3种基因缺失型(--SEA、-3.7、-4.2),采用荧光PCR溶解曲线法检测基因突变类型(HbCS、HbQS、HbWS)。结果:800例受检者经血液学表型初筛出疑似地中海贫血患者,疑似地中海贫血患者经基因检测检出α-地中海贫血基因阳性498例,检出率为62.25%。其中缺失型α-地中海贫血420例,占52.5%,共检出7种基因型,以-α3.7/αα、-α4.2/αα、-α3.7/-α4.2型为主,占缺失型83.88%;非缺失型α-地中海贫血78例,占9.75%,共检出4种基因型,以ααWS/αα为主,占非缺失型67.95%。结论:海南省昌江县黎族育龄夫妇α-地中海贫血基因携带率高达62.25%,且以基因缺失型-α3.7/αα、-α4.2/αα、-α3.7/-α4.2为主要类型。Objective： To explore the carrying rate and distribution of genotypes of α- thalassemia in Li couples of childbearing age in Changjiang county of Hainan province. Methods： The cases with MCV ≤ 85 fl and/or MCH ≤27 pg were suspected of α- thalasse- mia, gap - PCR was used to detect three gene deletions （ - - SEA, - 3.7, - 4. 2）, fluorescence PCR solubility curve was used to detect the types of gene mutation （HbCS, HbQS, HbWS） . Results： A total of 800 cases were suspected of α- thalassemia, 498 patients were found with α- thalassemia by gene detection, the detection rate was 62. 25% ; 420 patients were diagnosed as deletion type of α- thalassemia, accounting for 52. 5%, a total of 7 genotypes were detected, - αr3.7/αα, - α4. 2/αα and - α3.7/- α4. 2 were the main types, accounting for 83.88% ; 78 patients were diagnosed as non - deletion type of α-thalassemia, accounting for 9. 75%, a total of four genotypes were detected, ααWS/αα was the main type, accounting for 67. 95 %. Conclusion： The carrying rate of α-thalassemia gene in Li couples of childbearing age in Changjiang county of Hainan province is as high as 62. 25% , the major genotypes were - α3.7/αα, - α4. 2/αα and -α3.7/- α4. 2.

关 键 词：Α-地中海贫血 基因型 黎族 

分 类 号：R556.61[医药卫生—血液循环系统疾病]