A 6-bp deletion 5' to the (G)γ globin gene in β(S) chromosomes bearing the Bantu haplotype

E. E. Bouhassira, R. L. Nagel

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

Sequencing of the upstream region of a human (G)γ gene linked to the Bantu haplotype revealed a 6-bp deletion between site -400 and -395. Further analysis revealed that this mutation is present in 37% of the sickle cell anemia patients bearing the Bantu haplotype and is absent in the other haplotypes linked to the β(S) gene, as well as in most chromosomes bearing the β(A)-globin gene. The most parsimonious interpretation of the data is that the deletion is a very recent event which occurred in the subset of Bantu chromosomes already bearing a gene conversion of the (A)γ gene by the (G)γ gene. Its presence in black β(S) chromosomes is most probably the consequence of a crossing-over between a Bantu β(S) chromosome (with deletion and gene conversion) and a β(A) chromosome.

Original languageEnglish (US)
Pages (from-to)161-163
Number of pages3
JournalAmerican Journal of Human Genetics
Volume47
Issue number1
StatePublished - 1990

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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