A novel mosaic Bantu/Benin/Bantu beta s haplotype found in several African populations.
In a survey of the chromosomal backgrounds associated with the sickle cell gene in Portuguese-speaking populations from Europe and Africa, a discordance between the classical haplotype and the predicted allele at the RsaI polymorphism 5' to the beta globin gene was observed in four patients. Extensive typing of the corresponding beta s chromosomes at simple polymorphic repeat motifs revealed a novel "extended" haplotype that appeared to be a mosaic of (1) a Bantu-type DNase I hypersensitive site 2 within the beta globin gene cluster locus control region, (2) a Benin 5' subhaplotype, and (3) a Bantu 3' subhaplotype. We propose two alternative schedules for the generation of yet another chromosomal background of the sickle cell gene.
Gonçalves
I
I
Laboratório de Genética Molecular, Faculdade de Ciências e Tecnologia, Universidade Nova de Lisboa, Portugal.
Gonçalves
J
J
Périchon
B
B
Osório-Almeida
L
L
Krishnamoorthy
R
R
Lavinha
J
J
D000349:Africa; D001483:Base Sequence; D017931:DNA Primers; D005828:Genetics, Population; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008969:Molecular Sequence Data; D009030:Mosaicism; D005810:Multigene Family; D012805:Sickle Cell Trait / Q000235:genetics*
D017931:DNA Primers; D005914:Globins