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 language||English (US)|
|Number of pages||3|
|Journal||American Journal of Human Genetics|
|State||Published - 1990|
ASJC Scopus subject areas