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

H. H. Kazazian, S. E. Antonarakis, T. Cheng, C. D. Boehm, P. G. Waber

Research output: Contribution to journalArticle


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.

Original languageEnglish (US)
Pages (from-to)91-98
Number of pages8
JournalProgress in clinical and biological research
StatePublished - Dec 1 1983


ASJC Scopus subject areas

  • Medicine(all)

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