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 language | English (US) |
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Pages (from-to) | 161-163 |
Number of pages | 3 |
Journal | American Journal of Human Genetics |
Volume | 47 |
Issue number | 1 |
State | Published - Jul 1990 |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)