Phenotypic distribution, allelic diversity and degree of differentiation at ABO and Rh loci in the population of Haripur district, Khyber Pakhtunkhwa, Pakistan.

Haripur is the main Hindko speaking district in Hazara division, Khyber Pakhtunkhwa. To get a preliminary insight into the genetic structure of Haripur population, we have employed immunogentic markers of ABO and Rh loci. During the course of five years (2006-2010), phenotypic record of 2,140 donors and 2,099 patients was ascertained from the District Headquarter Hospital Haripur. In the donors, the percentages of blood groups ‘A’, ‘B’, ‘AB’ and ‘O’ were observed to be 20.75, 34.39, 5.84, and 39.02, respectively, while Rh(-) type was 10.14%. The frequencies of alleles p[A], q[B] and r[O] at the ABO locus were established to be 0.1436, 0.2275, and 0.6289, respectively, and Rh[d] allele at Rh locus was calculated to be 0.3184. Collectively, the samples of donors and patients were in conformity with Hardy-Weinberg Equilibrium. Gene diversity analyses revealed that heterozygosity at subpopulation level (HS) was not depleted from the overall heterozygosity (HT) and hence, coefficient of differentiation and absolute gene diversity were not significant (GST =0.0026, DST =0.0012; respectively). Curiously however, there was marked difference at the phenotypic proportions, allelic frequencies and heterozygosities at the studied polymorphisms when gender specific data were considered. Differentiation was very high in the sample obtained from female patients compared to males (0.0067 vs. 0.0027), resulting in very high absolute gene diversity and more stratification in the female sample compared to males (0.0030 vs. 0.0014). The specific reasons for this discrepancy remained unknown, but it is quite likely that there were differences in the ascertainment of male and female patients in the hospital. The estimation of Nei’s genetic distance demonstrated that the Haripur sample was closer to Swat and Rawalpindi populations than the Swabi, Peshawar and Abbotabad. This pilot study highlights various interesting aspects of Haripur population. Further studies through microsatellite markers are required to fully understand the dynamics of this population.