联合应用MLPA和测序技术检测地中海贫血基因缺陷  

Genetic diagnosis of thalassemias by multiplex ligation-dependent probe amplification combined with direct sequencing

作　　者：张莉[1] 黄伟忠[1] 唐景云[1] 黄国珍[1] 叶国永 喻长顺[2] 

机构地区：[1]深圳市坪山新区人民医院检验科,广东深圳518118 [2]广州金域医学检验中心

出　　处：《实用预防医学》2014年第7期779-781,共3页Practical Preventive Medicine

基　　金：深圳市科技计划项目立项课题(编号201103330);深圳市坪山新区医疗卫生发展孵化资助资金项目(编号201207)

摘　　要：目的构建并优化可对HBA和HBB基因缺失和突变进行检测的技术,评价该技术应用于深圳市人群地中海贫血的诊断效应。方法联合采用基因测序技术和多重链接依赖探针扩增(MLPA)技术对收集的88例样本分别进行α地贫和β地贫的基因诊断,并用常规方法验证。结果从88例高度疑似地贫患儿中检出α地贫患者43例,β地贫患者40例,α合并β地贫患者5例。同时,MLPA技术检测出1例不常见的α珠蛋白大片段缺失型地贫,基因测序检测出1例HBA1基因突变。结论 MLPA技术和基因测序技术结合应用,能够有效地进行α地贫和β地贫的基因诊断,提高诊断的准确度,具有良好的临床应用价值。Objective To establish a comprehensive and optimized technique which could be used for detecting gene deletion and mutation of HBA and HBB, and to explore its effectiveness in diagnosing thalassemia in Shenzhen City. Methods Genet- ic diagnoses of α- and β- thalassemia were conducted in 88 samples by using multiplex ligation - dependent probe amplification （MLPA） integrated with gene sequencing, and then conventional methods were utilized to identify them. Results Among the 88 children with highly suspected thalassemia, the number of children with α- , β- and α- β- thalassemia was 43, 40 and 5, respectively. One case of an uncommon form with large fragment deletion of a globin was simultaneously detected by MLPA, and another case with HBA1 gene mutation was detected by gene sequencing. Conclusions MLPA combined with gene sequencing can more effectively detect α- and β- thalassemia, and improve the diagnosis accuracy. It may be of good clinical value.

关 键 词：地中海贫血 多重链接依赖探针扩增 基因测序 基因诊断 

分 类 号：R556.61[医药卫生—血液循环系统疾病]