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Background Y 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 methods The 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 conclusions The 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.

DNA, the operating element of the genes, brings the coded notes of inheritance in every single surviving thing: animals, plants, bacteria, and other microorganisms. Within human beings, the information-bringing DNA arises in each cell having nucleus, including cells surrounding hair roots, spermatozoa, white blood corpuscles, and salivary cells. These would be the cells of utmost significance in forensic investigations. DNA testing has countless prospective advantages for civil and criminal justice; in spite of this, because of the likelihood for its mishandling or abuse, vital issues have been mentioned about trustworthiness, authenticity, and privacy. The methods of DNA testing are results of the innovation in molecular biology that is generating an increase of knowledge about human genetics. The greatly personal and complex info that can be developed by DNA testing involves firm and meticulous knowledge of genetic basis of testing methods.

We report here the first ever global study on genetic polymorphism using a Verifiler PlusTM autosomal STR multiplex system. The study evaluated genetic characteristics of 23 autosomal STRs in 200 unrelated residents of Guna district of Madhya Pradesh, India. Allele frequencies and forensic parameters are reported. Population comparison analysis was also performed using NJ tree and PCA plot. Penta E marker showed highest power of discrimination (0.938) among all 23 studied markers. The study also presents the first ever global forensic assessment in Indian population on D6S1043 marker (PD 0.937). The results demonstrated that all the 23 markers were highly polymorphic and the Verifiler PlusTM kit is suitable for forensic purposes in Indian population.

Background and Purpose—Genomewide DNA linkage analysis identified a susceptibility locus for intracranial aneurysm (IA) on chromosome 19q13 in the Finnish population, a region including the kallikrein gene cluster. We investigated the association of single nucleotide polymorphisms (SNPs) in the kallikrein gene cluster with IA in the Finnish population.Methods—We genotyped 18 haplotype-tagging SNPs spanning a 244 kbp region in the kallikrein gene cluster for 266 Finnish IA cases and 290 Finnish control subjects. In a second phase, we genotyped 2 SNPs (rs1722561 and rs1701946) in an additional set of 102 Finnish IA cases and 102 Finnish control subjects; and in a third phase, we genotyped these 2 SNPs in 156 Russian IA cases and 186 Russian control subjects. Both single-marker and haplotype-based tests of association were performed.Results—In phase I, SNPs rs1722561 and rs1701946 were significantly associated with IA in the Finnish population for single locus models (rs1722561:P=0.0395; rs1701946:P=0.0253). A 2-SNP haplotype block (rs1722561–rs1701946) identified in phase I was also associated with IA in the expanded Finnish (phase II) data set (asymptoticP=0.012; empiricalP=0.019). In the Finnish and Russian combined data set (phase III) with 524 cases and 578 control subjects, the same 2 SNPs (OR: 1.35, 95% CI: 1.14, 1.60;P=0.0005 for rs1722561 and OR: 1.32, 95% CI: 1.12, 1.57;P=0.0011 for rs1701946) were significantly associated with IA. These SNPs are located in the intronic region ofKLK8, although linkage disequilibrium could extend from rs268912–rs2250066, a ≈76-kbp region that includes KLK5–KLK10.Conclusions—Polymorphisms within the kallikrein gene cluster are associated with IA suggesting that the kallikreins are important candidate genes for IA.

The simultaneous testing of a large number of hypotheses in a genome scan, using individual thresholds for significance, inherently leads to inflated genome-wide false positive rates. There exist various approaches to approximating the correct genomewidep-values under various assumptions, either by way of asymptotics or simulations. We explore a philosophically different criterion, recently proposed in the literature, which controls the false discovery rate. The test statistics are assumed to arise from a mixture of distributions under the null and non-null hypotheses. We fit the mixture distribution using both a nonparametric approach and commingling analysis, and then apply the local false discovery rate to select cut-off points for regions to be declared interesting. Another criterion, the minimum total error, is also explored. Both criteria seem to be sensible alternatives to controlling the classical type I and type II error rates.