Abstract
Biallelic polymorphisms on the Y chromosome have been extensively used to study the history, evolution, and migration patterns of world populations. In this study we screened 8.5 kb of Y chromosomal DNA for single nucleotide polymorphisms (SNPs) in a panel of 95 male individuals belonging to different haplogroups. Five novel Y-SNPs (PK1–5) were identified, four in the Pakistani sample and one in an African sample. The ancestral state of each SNP was determined in two chimpanzee samples and a variety of Pakistani ethnic groups. In addition to these novel Y-SNPs 77 additional markers on the Y chromosome were analyzed to place the SNPs on the phylogenetic tree of Y chromosomal lineages and to further investigate extant human Y chromosomal variation within Pakistan. BATWING analysis gave an estimate of between 2,500 and 7,300 YBP for population expansion in Pakistan which coincides with the period of the Indus Valley civilizations.
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Aisha Mohyuddin and Qasim Ayub contributed equally to this publication.
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Mohyuddin, A., Ayub, Q., Underhill, P.A. et al. Detection of novel Y SNPs provides further insights into Y chromosomal variation in Pakistan. J Hum Genet 51, 375–378 (2006). https://doi.org/10.1007/s10038-005-0357-2
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DOI: https://doi.org/10.1007/s10038-005-0357-2
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