R. Scozzari et al., Combined use of biallelic and microsatellite Y-chromosome polymorphisms toinfer affinities among African populations, AM J HU GEN, 65(3), 1999, pp. 829-846
Citations number
51
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
To define Y-chromosome haplotypes, we studied seven biallelic polymorphic s
ites. We combined data with those from four dinucleotide-repeat polymorphis
ms, to establish Y-chromosome compound superhaplotypes. Eight biallelic hap
lotypes that matched the dendrogram proposed by other investigators were id
entified in 762 Y chromosomes from 25 African populations. For each biallel
ic site, coalescence time of lineages carrying the derived allele was estim
ated and compared with previous estimates. The "ancestral" haplotype (haplo
type 1A) was observed among Ethiopians, "Khoisan" (!Kung and Khwe), and pop
ulations from northern Cameroon. Microsatellite distributions within this h
aplotype showed that the Khoisan haplotypes 1A are widely divergent from th
ose of the other two groups. Populations from northern Africa and northern
Cameroon share a haplotype (i.e., 1C), which is not observed in other Afric
an populations but represents a major Eurasian cluster. Haplotypes 1C of no
rthern Cameroon are clearly distinct from those of Europe, whereas haplotyp
es 1C of northern African are well intermingled with those of the other two
groups. Apportionment of diversity for the Y-chromosomal biallelic haploty
pes was calculated after populations were clustered into different configur
ations. Despite some correspondence between language affiliation and geneti
c similarity, geographic proximity seems to be a better predictor of geneti
c affinity.