• Sajjad Ullah, Muhammad Aslamkhan, and Amna Rasheed.
• Department of Human Genetics and Molecular Biology, University of Health Sciences, Lahore.
• J Coll Physicians Surg Pak. 2015 Aug 1; 25 (8): 573-8.

ObjectiveTo determine the existence of autosomal recessive deafness loci in different ethnic tribes of the Punjab.Study DesignDescriptive observational study.Place And Duration Of StudyDepartment of Human Genetics and Centre of Excellence in Molecular Biology, University of Health Sciences, Lahore, from July 2009 to March 2012.MethodologyHealthy willing subjects with autosomal recessive deafness loci were studied for selected deafness loci. Those who were unhealthy and gave history of infectious disease were excluded. DNAextraction was carried out using the inorganic method. Fluorescently labeled microsatellite markers were used for amplification of desired regions by PCR (Polymerase Chain Reaction). Automated allele assignment was performed using the ABI PRISM GeneScan Analysis Software Version 3.7 for Windows NTPlatform. Two-point LOD scores were calculated using the FASTLINK computer package (Schaffer 1996) and MLINK was used for calculation and 95% CI (confidence intervals) were calculated.ResultsOne hundred and thirty two individuals of 8 families were analyzed. Three families (SAPun-03, SAPun-10 and SAPun-15) were found linked to DFNB12; two families (SAPun-05 and SAPun-17) were found linked to DFNB8/10, while three families (SAPun-06, SAPun-13 and SAPun-19) were found linked to DFNB29, DFNB36 and DFNB37 respectively.ConclusionThe genotyping results revealed that DFNB12 locus was the most common followed by DFNB8/10 locus, while the Loci DFNB29, DFNB36 and DFNB37 were less common.

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