Rapid detection of the common Mediterranean α-globin deletions/rearrangements using PCR
Rapid detection of the common Mediterranean α-globin deletions/rearrangements using PCR
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DOI：
10.1002/(sici)1096-8652(199808)58:4
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发表时间：
1998-08-01
影响因子：
12.8
通讯作者：
Rund, D
中科院分区：
文献类型：
--
作者：
Oron-Karni, V;Filon, D;Rund, D
最常见的导致α-地中海贫血的分子病变是一个或多个α-珠蛋白基因的缺失。这些缺失的检测通常需要基因组Southern分析，这是繁琐和耗时的。我们设计了新的引物组，用于PCR鉴定常见的地中海α-珠蛋白基因重排，包括-α（3.7）缺失和α（抗3.7）三重，-α（4.2）缺失和-α（Mod）等位基因。我们已经建立了反应条件，提供易于解释，明确的诊断。一些PCR反应是多重的，同时鉴定几种基因型，从而减少筛查和产前检测的时间和成本，这些方法的使用应有助于携带者筛查和鉴定有α-地中海贫血风险的夫妇。(C)1998 Wiley-Liss，Inc.
The most frequent molecular lesions causing alpha-thalassemia are deletions of one or more alpha-globin genes. Detection of these deletions generally requires genomic Southern analysis, which is cumbersome and time consuming, We have designed new sets of primers for PCR identification of the common Mediterranean alpha-globin gene rearrangements, including the -alpha(3.7) deletion and the alpha alpha alpha(anti3.7) triplication, the -alpha(4.2) deletion, and the --(Mod) allele. We have established reaction conditions that provide easily interpretable, unambiguous diagnoses. Some of the PCR reactions are multiplex, simultaneously identifying several genotypes, thus reducing the time and cost of screening and prenatal testing, The use of these methods should facilitate carrier screening and identification of couples at risk for alpha-thalassemia. (C) 1998 Wiley-Liss, Inc.