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Y‐chromosome specific alleles and haplotypes in European and Asian populations: Linkage disequilibrium and geographic diversity
Author(s) -
Mitchell R. J.,
Fricke B.
Publication year - 1997
Publication title -
american journal of physical anthropology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.146
H-Index - 119
eISSN - 1096-8644
pISSN - 0002-9483
DOI - 10.1002/(sici)1096-8644(199710)104:2<167::aid-ajpa3>3.0.co;2-w
Subject(s) - genetics , biology , haplotype , linkage disequilibrium , allele , taqi , population , y chromosome , allele frequency , evolutionary biology , gene , polymorphism (computer science) , demography , sociology
Variation on the Y chromosome may permit our understanding the evolution of the human paternal lineage and male gene flow. This study reports upon the distribution and non random association of alleles at four Y‐chromosome specific loci in four populations, three Caucasoid (Italian, Greek and Slav) and one Asian. The markers include insertion/deletion (p12f), point mutation (92R7 and pYαI), and repeat sequence (p21A1) polymorphisms. Our data confirm that the p12f/ Taq I 8 kb allele is a Caucasoid marker and that Asians are monomorphic at three of the loci (p12f, 92R7, and pYαI). The alleles at 92R7 and pYαI were found to be in complete disequilibrium in Europeans. Y‐haplotype diversity was highly significant between Asians and all three European groups ( P < 0.001), but the Greeks and Italians were also significantly different with respect to some alleles and haplotypes ( P < 0.02). We find strong evidence that the p12f/ Taq I 8 kb allele may have arisen only once, as a deletion event, and, additionally, that the present‐day frequency distribution of Y chromosomes carrying the p12f/8 kb allele suggests that it may have been spread by colonising sea‐faring peoples from the Near East, possibly the Phoenicians, rather than by expansion of Neolithic farmers into continental Europe. The p12f deletion is the key marker of a unique Y chromosome, found only in Caucasians to date, labelled ‘Mediterranean’ and this further increases the level of Y‐chromosome diversity seen among Caucasoids when compared to the other major population groups. Am J Phys Anthropol 104:167–176, 1997. © 1997 Wiley‐Liss, Inc.