A 6-bp deletion 5′ to the Gγ globin gene in βS chromosomes bearing the Bantu haplotype

Eric E. Bouhassira, Ronald L. Nagel

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

Sequencing of the upstream region of a human Gγ 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 βS gene, as well as in most chromosomes bearing the βA-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 Aγ gene by the Gγ gene. Its presence in black βS chromosomes is most probably the consequence of a crossing-over between a Bantu βS chromosome (with deletion and gene conversion) and a βA chromosome.

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

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Globins
Haplotypes
Chromosomes
Gene Conversion
Genes
Chromosome Deletion
Sickle Cell Anemia
Mutation

ASJC Scopus subject areas

  • Genetics

Cite this

A 6-bp deletion 5′ to the Gγ globin gene in βS chromosomes bearing the Bantu haplotype. / Bouhassira, Eric E.; Nagel, Ronald L.

In: American Journal of Human Genetics, Vol. 47, No. 1, 07.1990, p. 161-163.

Research output: Contribution to journalArticle

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