Atypical haplotypes linked to the beta S gene in Africa are likely to be the product of recombination.

Abstract:

:We report here the haplotypes of 10 MstII-defined SS patients and a S/beta o thalassemia from the Central African Republic, exhibiting 7 different atypical haplotypes that are different from the typical Bantu haplotype that characterize over 93% of the beta s bearing chromosomes in that region of Africa. Of the seven atypical haplotypes, six can be easily interpreted as the result of recombination around the "hot spot" 5' of the beta gene, between a typical Bantu haplotype and other haplotypes available in the normal population. Except for one case that requires further study, this result demonstrates that the main mutational event leading to sickle hemoglobin in Bantu-speaking Africa was the mutation of the beta gene in a Bantu haplotype background.

journal_name

Am J Hematol

authors

Srinivas R,Dunda O,Krishnamoorthy R,Fabry ME,Georges A,Labie D,Nagel RL

doi

10.1002/ajh.2830290117

subject

Has Abstract

pub_date

1988-09-01 00:00:00

pages

60-2

issue

1

eissn

0361-8609

issn

1096-8652

journal_volume

29

pub_type

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