title: Y-chromosome specific alleles and haplotypes in European and Asian populations: linkage disequilibrium and geographic diversity.
abstract: 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 pY alpha I), and repeat sequence (p21A1) polymorphisms. Our data confirm that the p12f/TaqI 8 kb allele is a Caucasoid marker and that Asians are monomorphic at three of the loci (p12f, 92R7, and pY alpha I). The alleles at 92R7 and pY alpha I 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/TaqI 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.
authors.affiliation: School of Genetics and Human Variation, La Trobe University, Melbourne, Victoria, Australia. genrjm@genome.gen.latrobe.edu.au
authors.forename: R J
authors.initials: RJ
authors.lastname: Mitchell
authors.forename: L
authors.initials: L
authors.lastname: Earl
authors.forename: B
authors.initials: B
authors.lastname: Fricke
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics; D002681:China / Q000208:ethnology; D004247:DNA / Q000235:genetics*; D005787:Gene Frequency; D014644:Genetic Variation; D005828:Genetics, Population; D006115:Greece / Q000208:ethnology; D006239:Haplotypes; D006801:Humans; D007558:Italy / Q000208:ethnology; D015810:Linkage Disequilibrium; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D014739:Victoria; D014744:Vietnam / Q000208:ethnology; D044465:White People / Q000235:genetics; D014998:Y Chromosome; D015022:Yugoslavia / Q000208:ethnology
chemical_list: D004247:DNA