MLPA与基因测序技术检测联用检测地中海贫血基因缺陷分析

目的对深圳地区地中海贫血(简称:地贫)人群及正常人群进行HBA、HBB基因突变的筛查,旨在提高地贫基因确诊率,发现传统基因诊断技术易漏检的地贫相关基因突变类型。方法选取2009年4月～2010年10月送检本实验室疑似地中海贫血基因缺陷血样100例,采用MLPA技术和基因测序技术联合检测。结果 (1)成功检测出β合并α地贫双重杂合子;(2)β地贫中,41-42杂合子基因型占53.57%,β合并α地贫双重杂合子,占28.6%,α1地贫中一SEA/αα基因型占96.9%;(3)α2地贫以αcs/αα、α3.7/αα和αWS/αα基因型居多;(4)进一步经MLPA检测后另发现α地贫缺失型及β地贫β基因缺失型占12%。结论联合应用MLPA技术、PCR技术和基因测序技术,可以提高地中海贫血基因缺陷检测的准确率,为本病家系成员的遗传咨询和产前基因诊断提供准确的依据。

Analysis of the drawback of the combination of MLPA and gene sequencing technology in detecting thalassemia genes

Objective To screen the gene mutation of HBA and HBB for thalassemia population and normal population in Shenzhen,aiming at improving the diagnosis rate of thalassemia genes and finding related gene mutation types of thalassemia easily undected by traditional gene sequencing technology.Methods One hundred cases of suspected blood samples of gene mutation of thalassemia detected in our laboratory from April 2009 to October 2010 were chosen,and MLPA and gene sequencing technology were used in combination.Results(1)The double heterozygotes ofβmergerαof thalassemia were detected successfully;(2)Inβthalassemia,the genotype of 41-42 heterozygous accounted for 53.57%,the double heterozygotes ofβmergerαof thalassemia accounted for 28.6%,in theα1 thalassemia,SEA/ααgenotype accounted for 96.9%;(3)Ofα2 thalassemia,αcs/αα,α3.7/ααandαWS/ααgenotype were the most;(4)Through further detection by MLPA,it was found that,α-thalassemia delection type andβgene deletion type ofβthalassemia accounted for 12%.Conclusion The combination of MLPA technology,PCR technology,and gene sequencing technology can improve the accuracy of the drawback detection of thalassemia genes,and provide accurate basis for genetic counseling and prenatal gene diagnosis of family members of this disease.