Abstract
To link congenital hearing loss with known loci to establish a platform for future research. The cross-sectional study was conducted from February 2016 to March 2017 in Bannu, Khyber Pakhtunkhwa, Pakistan, and comprised families with Pashtun ethnicity having at least 2 individuals suffering from congenital hearing loss. Deoxyribonucleic acid from whole blood samples was extracted by salting-out method. Amplification was done through touchdown polymerase chain reaction to see any possible linkage to already reported deafness loci. Linkage analysis was carried out using microsatellite markers for each locus. Genotyping of the samples was done and haplotypes were accordingly generated to either include or exclude the linked / unlinked regions. Of the 4 families, family PKDF 1620 showed linkage with DFNB12/CDH23 (D10S1432, D10S606, and D10S1694) and family PKDF 1625 had linkage with DFNB3/MYO15A (D17S2196, D17S2207 and D17S2206). Families PKDF1623 and PKDF1624 showed no linkage with any of the prevalent reported loci in Pakistan . Linkage to DFNB12 and MYO 15 showed heterogeneity of congenital deafness.
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