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

Hum Genet. 1993 Jun;91(5):464-8. doi: 10.1007/BF00217773.

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 beta s haplotypes. Potential functional relevance of this polymorphic region in globin gene expression is discussed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algeria
  • Anemia, Sickle Cell / ethnology*
  • Anemia, Sickle Cell / genetics*
  • Base Sequence
  • Benin
  • Black People / genetics*
  • Cameroon
  • Central African Republic
  • Globins / genetics*
  • Haplotypes
  • Humans
  • India
  • Linkage Disequilibrium
  • Molecular Sequence Data
  • Nucleic Acid Conformation
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Regulatory Sequences, Nucleic Acid
  • Repetitive Sequences, Nucleic Acid
  • Senegal
  • Sequence Analysis, DNA
  • Sicily

Substances

  • Globins