Use of haplotype analysis in the beta-globin gene cluster to discover beta-thalassemia mutations

Author(s): Kazazian HH Jr, Antonarakis SE, Cheng T, Boehm CD, Waber PG

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.

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