在β-珠蛋白基因簇中使用单倍型分析来发现β地中海贫血突变。
Use of haplotype analysis in the beta-globin gene cluster to discover beta-thalassemia mutations.
作者信息
Kazazian H H, Antonarakis S E, Cheng T, Boehm C D, Waber P G
出版信息
Prog Clin Biol Res. 1983;134:91-8.
PMID:6665005
Abstract
DNA polymorphisms have been of great value in defining a small number of common sequences in the beta-globin gene cluster and a region within which recombination may be restricted. Moreover, they have led to a screening procedure that not only has been of great value for the molecular characterization of beta-thalassemia mutations but also has implications for the characterization of other single-gene disorders.
摘要
DNA多态性在确定β-珠蛋白基因簇中的少数常见序列以及一个重组可能受限的区域方面具有重要价值。此外，它们还带来了一种筛查方法，该方法不仅对β地中海贫血突变的分子特征分析具有重要价值，而且对其他单基因疾病的特征分析也有影响。
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