钦州城区980例α-珠蛋白生成障碍性贫血基因检测及类型分析  

Analysis of gene detection and genotype of 980 cases with α-thalassemia in Qinzhou city of Guangxi

作　　者：刘宁毅[1] 刘春利[1] 陈良军 罗文意[1] 

机构地区：[1]广西钦州市第二人民医院检验科,广西钦州535000

出　　处：《右江医学》2013年第2期168-170,共3页Chinese Youjiang Medical Journal

基　　金：广西自然科学基金项目(编号:2010GXNSFA013263)

摘　　要：目的对钦州城区980例α-珠蛋白生成障碍性贫血(简称α-地贫)进行基因分析,了解其基因突变的类型,旨在为本地预防地贫重症患儿的出生提供指导。方法用钦州城区980例样本检测α-地贫基因型。α缺失型基因应用单管多重PCR技术进行检测,非缺失突变型地贫采用反向斑点杂交法。结果钦州城区980例样本中,α-地贫缺失型基因常见的有3种即--SEA/,-α3.7/,-α4.2,常见的包括非缺失突变型地贫和HbCS,HbQS和HbWS。检出α-地贫276例,占28.16%;其中缺失型α-地贫226例,占α-地贫81.88%,非缺失突变型地贫50例,占α-地贫18.12%;检出复合型αβ-地贫35例,占3.57%。结论钦州城区有较为特殊的地贫基因类型,对指导产前诊断、预防地贫重症患儿的出生、提高人口素质有着重要的作用。Objective To analyze genes of 980 city dwellers with a thalassemia in Qinzhou city of Guangxi to know the type of the gene mutation,so as to provide guidance to prevent local birth of children with severe thalasse- mia. Methods 980 cases of samples in Qinzhou were detected for the genotype of a thalassemia, α gene deletion type was detected by single tube multiple PCR technique and non-deletion mutant α-thalassemia by reverse dot blot meth- od. Results Among the 980 samples,there were 3 deletion genotypes which were commonly seen in a thalassemia -SEA/, α 37 / and- α 1.2. There were also the commonly seen non-deletion mutants HbCS, HbQS and HbWS. Detec- tion showed that there were 276 cases with u thalassemia （accounting for 28.16 %）, among which 226 cases had gene deletion type of α-thalassemia （accounting for 81.88% ）, 50 cases had non-deletion mutant a-thalassemia （accounting for 18.12%）. There were 35 cases of composite type of αβ-thalassemia, accounting for 3.57%. Conclusion There are special types of thalassemia in Qinzhou city,which can provide guidance to antenatal diagnosis,prevent birth of chil- dren with severe thalassemla, and significantly improve population quality.

关 键 词：地中海贫血 Α-地中海贫血 基因诊断 

分 类 号：R556.7[医药卫生—血液循环系统疾病]