Study of genetic variation of Alu CD4, LPL PvuII and ESR1-PvuII in different population groups of Jammu region (J&K)

Human genomic diversity is the result of differential accumulation of genetic variations in individuals and populations throughout the evolution. The identification of such distinctive characteristics in the DNA represents the basis of human identification and population genetics. We have investigated the allele frequency distribution and levels of heterozygosity using three autosomal markers (Alu CD4, LPL- PvuII and ESR1-PvuII) among 400 individuals belonging to four different population groups of Jammu region of J&K state. Out of these three markers, LPL- PvuII and ESR1-PvuII are found to be highly polymorphic with high heterozygosity values (0.42 to 0.49) whereas Alu CD4 has exhibited the consistently low levels of heterozygosity values in all the populations. The chi-square test for goodness of fit has revealed the significant deviation from the Hardy-Weinberg equilibrium in most of the population groups. High values of the total genomic diversity have been observed in LPL-PvuII and ESR1-PvuII markers. The extent of gene differentiation (GST) value for all loci is found to be 0.0159. The results of the present work are in concordance with the earlier studies and can be helpful in future studies on phylogenetics and genomic diversity.