常见的缺失型α地中海贫血2的基因检测

Detection of Common Deletional α-Thalassemia 2 determinants

关键词:  缺失型α地中海贫血-2  -α^3.7和-α^4.2缺失型  聚合酶链反应(PCR)

Key words:  deletional α-thalassemia-2  -α^3.7 and-α^4.2 deletions  polymerase chain reaction (PCR)

摘要:

应用聚合酶链反应技术检测缺失型α地中海贫血-2。特异性引物选择性扩增α2和α1基因,PCR产物经琼脂糖凝胶电泳后即可对-α^3.7和-α^4.2缺失型作出基因诊断。此方法简便,快速和可靠。本研究为在缺失型α地中海贫血-2高发区进行-α^3.7和-α^4.2缺失型的筛查和产前诊断提供了一个新的方法。

Abstract:

Using polymerase chain reaction to detect common deletional α-thalassemia-2. Specific primers selectively amplify the α2 and α1 genes. After electrophoresis of PCR products, then can make diagnosis for genotypes of the-α^3.7 and α^4.2 deletions. This method is simple, fast, reliable and non-radioactive. It offers a new method for large screening and prenatal diagnosis of-α^3.7 and-α⁴² deletions in the area with high frequency of deletional α-thalassemia-2.