Inter-ethnic polymorphism of the β-globin gene locus control region (LCR) in sickle-cell anemia patients

Bruno Périchon, Angela Ragusa, Claudine Lapouméroulie, Alain Romand, Paolo Moi, Tohru Ikuta, Dominique Labie, Jacques Elion, Rajagopal Krishnamoorthy

Research output: Contribution to journalArticle

38 Scopus citations

Abstract

Sequence polymorphisms within the 5′HS2 segment of human locus control region is described among sickle cell anemia patients. Distinct polymorphic patterns of a simple sequence repeat are observed in strong linkage disequilibrium with each of the five major βS haplotypes. Potential functional relevance of this polymorphic region in globin gene expression is discussed.

Original languageEnglish (US)
Pages (from-to)464-468
Number of pages5
JournalHuman Genetics
Volume91
Issue number5
DOIs
StatePublished - Jun 1 1993
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Périchon, B., Ragusa, A., Lapouméroulie, C., Romand, A., Moi, P., Ikuta, T., Labie, D., Elion, J., & Krishnamoorthy, R. (1993). Inter-ethnic polymorphism of the β-globin gene locus control region (LCR) in sickle-cell anemia patients. Human Genetics, 91(5), 464-468. https://doi.org/10.1007/BF00217773