广西地区200例儿童α地中海贫血血红蛋白H病基因突变的研究  

THE GENOTYPING RESEARCH ON 200 CHILDREN WITH HEMOGLOBIN H DISEASE IN GUANGXI PROVINCE

作　　者：余新圆[1] 陈萍[2] 陈文强[2] 李树全[2] 林伟雄[2] 谢湘芝[2] 梁一丹[2] 

机构地区：[1]广西医科大学 [2]广西医科大学第一附属医院血红蛋白研究室,南宁530021

出　　处：《广西医科大学学报》2011年第3期365-368,共4页Journal of Guangxi Medical University

基　　金：广西科学研究与技术开发计划资助项目(No.桂科合0992032-11)

摘　　要：目的:对广西地区儿童α地中海贫血血红蛋白H病(Hb H病)进行基因分析,明确基因突变类型。方法:应用多重PCR、反向斑点杂交及DNA测序方法进行α地中海贫血基因突变分析;应用统计软件SPSS13.0对数据进行统计分析。结果:200例Hb H病患儿检出104例缺失型Hb H病,占52.0%,包括67例--SEA/-α3.7,36例--SEA/-α4.2,1例--Thai/-α3.7;非缺失型HbH病96例,占48.0%,包括86例--SEA/αCSα,8例--SEA/αQSα,1例--Thai/αCSα及1例--SEA/α△30α。血红蛋白分析显示非缺失型Hb H病患儿的Hb H水平高于缺失型Hb H病(P<0.001)。结论:广西地区儿童Hb H病基因突变类型多样,以缺失型HbH病为主。首次在广西儿童中检出罕见的α2珠蛋白基因密码子30缺失及泰国缺失型α地中海贫血导致的Hb H病,丰富了Hb H病基因突变的研究,可为遗传咨询及将来的产前诊断提供重要的依据和指导。Objective：To analyze gene mutations in children with α thalassemia Hemoglobin H （Hb H） dis ease in Guangxi province. Methods：The genotypes were analyzed by multiplex PCR,reverse dot blot hybridization and DNA sequencing. The data were processed by SPSS 13.0 statistical software. Results： Among 200 cases of Hb H disease,104 cases were detected as deletional Hb H disease,accounting for 52.0% ;which including 67 cases of --^SEA-α^3.7 ,36 cases of --^SEA/-α^4.2 and 1 case of --^Thai/-α^3.7. While 96 cases were non- deletional H b H accounting for 48.0 %. They were 86 cases of --^SEA/α^CSα, 8 cases of --^SEA/α^QSα, 1 case of --^SEA/α^△30α and 1 case of --^SEA/α^△30α respectively. The results of Hb analysis showed that the Hb H level in non-deletional group was higher than those in deletional group （ P 〈0. 001）. Conclusion： There were various genotypes of Hb H disease in the children wilh Hb H disease in the region of Guangxi province. The most common genotypes were deletional Hb H disease. The rare mutations causing Hb H disease, such as codon 30 deletion of a2 globin gene and Thailand deletional type, were first described in children of Guangxi province. This study enriched the research on Hb H diseases,and will provide important information for genetic counseling and prenatal diagnosis in the future.

关 键 词：Α地中海贫血 HB H病 基因型 基因突变 

分 类 号：R556.7[医药卫生—血液循环系统疾病]