广东梅州地区的异常血红蛋白的分子流行病学调查  

Molecular epidemiology investigation of abnormal hemoglobin in Meizhou area of Guangdong Province

作　　者：温应方 林敏[2] 刘桂荣[1] 吴教仁[2] 王前[3] 郑磊[3] 黄樾[2] 林芬[2] 詹小芬[2] 林春萍[2] 翁秋青 黄芬婷 杨立业[2] 

机构地区：[1]广东省梅州市梅县人民医院检验科,梅州514011 [2]南方医科大学附属潮州中心医院检验实验中心,潮州521000 [3]南方医科大学附属南方医院检验科,广州510120

出　　处：《重庆医科大学学报》2011年第12期1496-1499,共4页Journal of Chongqing Medical University

基　　金：国家自然科学基金资助项目(编号:81101329);广东省医学科研基金资助项目(编号:A2009781;B2010348);梅州市科技计划资助项目(编号:2011B31);潮州市社会发展计划资助项目(编号:2009S14)

摘　　要：目的:了解广东省梅州地区异常血红蛋白病的分子流行病学特征。方法:共有15 229人参加了本次异常血红蛋白的电泳筛查,每人用EDTA-K2抗凝真空管采血2 ml。用Sysmex XT-1800i全自动血球分析仪检测各项红细胞参数,Gap-PCR与反向斑点杂交检测地贫及Hb E。采用PCR-测序法检测异常血红蛋白点突变。结果:梅州地区的异常血红蛋白发生率为0.479%(73/15 229)。本次筛查共发现10种异常血红蛋白,包括1例Hb J-Broussais、7例Hb J-Bangkok、4例Hb Wenchang-Wuming、12例Hb K NewYork、13例Hb Q-Thailand、2例Hb Queens、12例Hb G-Chinese、1例Hb G-Waimanalo、3例Hb G-Siriraj和18例Hb E。结论:广东省梅州地区的异常血红蛋白病发生率高于全国平均水平,异常血红蛋白的基因品种及频率体现出客家人群特有的南方人群以及北方人群交汇融合的特点。Objective：To investigate the molecular epidemiological characteristics of abnormal Hbs in Meizhou area of Guangdong Province.Methods：A total of 15 229 people were included in this hemoglobin electrophoresis screening.Samples of 2 ml EDTA-K2 blood were analyzed by Sysmex XT-1800i blood analyzer;thalassemia genotypes and Hb E variant were identified by gap-PCR and/or reverse dot blot（RDB）.The genotypes of Hb variants were detected by PCR and sequencing.Results：The incidence of abnormal Hbs was 0.479%（73/15 229）.Totally,10 kinds of abnormal hemoglobin were found including 1 case of Hb J-Broussais,7 cases of Hb J-Bangkok,4 cases of Hb Wenchang-Wuming,12 cases of Hb K-NewYork,13 cases of Hb Q-Thailand,2 cases of Hb Queens,12 cases of Hb G-Chinese,1 case of Hb G-Waimanalo,3 cases of Hb G-Siriraj,and 18 cases of Hb E.Conclusion：The incidence of abnormal Hbs of Meizhou area is higher than the average incidence of China.It shows a genetic characteristic of gene flow confluence of the north and south of China.

关 键 词：异常血红蛋白 分子流行病学 DNA测序 

分 类 号：R446.11[医药卫生—诊断学]