Abstract
BackgroundY chromosome single nucleotide polymorphisms (Y-SNPs) are useful markers for reconstructing male lineages, haplogroup determinations, and paternity identifications. Since Y chromosome lacks recombination, the haplogroups of this series show a greater extent of diverse genome-specific geographical distributions and these haplogroups have been found to play a major role in forensic investigations and population genetics.Materials and methodsThe present study is aimed at determining the Y chromosomal phylogeny of two southeast coastal Indian tribal populations (Porja and Savara; N = 217), using a set of 15 bi-allelic markers on the non-recombining region of Y chromosome, representing two Austro-Asiatic (AA) language speaking populations.Results and conclusionsThe phylogenetic analysis revealed four paternal haplogroups, viz., H1*-M52, H1a*-M82, O2a*-M95, and R2-M124, with high frequency (84.79%) represented by the Austro-Asiatic-specific haplogroup O2a* (M95), confirming to the fact of O2a* haplogroup being the paternal signature of AA language family of Southeast Asians.
Highlights
Y chromosome single nucleotide polymorphisms (Y-SNPs) are useful markers for reconstructing male lineages, haplogroup determinations, and paternity identifications
Forensic genetics covers a broad range of disciplines, such as forensic pathology (Alacs et al 2010), complex traits (Kayser and Schneider 2009; Pulker et al 2007), and wild life forensics (Budowle et al 2005), nowadays, in the field of forensic genetics, short tandem repeats (STRs)-centered DNA testing (Edwards et al 1992) has been accepted as a principal approach used in cases of naïve paternity investigations (ZupanicPajnic et al 2001), identification of skeletal remains (ZupanicPajnic et al 2010), and complex criminal cases, involving rape and gang rape
Haplogroup O Haplogroup O identified by M175 (5-bp deletion) was found with highest frequency of 84.79%
Summary
Y chromosome single nucleotide polymorphisms (Y-SNPs) are useful markers for reconstructing male lineages, haplogroup determinations, and paternity identifications. Due to its uniqueness among the other human chromosomes, Y chromosome haplogroups or haplotypes have been used for the identification of criminals in forensic cases (Jobling et al 1997), paternal lineages in human evolution (Jobling and Tyler-Smith 1995), diseases in medical genetics (Jobling and Tyler-Smith 2000), and pedigrees in genealogical reconstructions (Jobling 2001). Forensic genetics covers a broad range of disciplines, such as forensic pathology (Alacs et al 2010), complex traits (Kayser and Schneider 2009; Pulker et al 2007), and wild life forensics (Budowle et al 2005), nowadays, in the field of forensic genetics, short tandem repeats (STRs)-centered DNA testing (Edwards et al 1992) has been accepted as a principal approach used in cases of naïve paternity investigations (ZupanicPajnic et al 2001), identification of skeletal remains (ZupanicPajnic et al 2010), and complex criminal cases, involving rape and gang rape. A number of laboratories conduct STR analysis while studying population genetics and report them in various ethnic populations
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