Genetic mapping of candidates of deafness genes in pakistani families

DMA analysis for the Genetic Mapping of Candidates of Deafness Genes in Pakistani Families. It was a cross sectional study. Department of Biochemistry/Molecular Biology, Quaid I Azam University, Islamabad Pakistan. The Clinical examination, biochemical tests, interpretation of results and preparation of results completed in approximately one year, 2006 2007. Study was conducted on two Pakistani families. Two Pakistani families labeled as family A and B were selected for the study. Family A comprises of three normal and three affected [Deaf] individuals. Family B comprises of two normal and four affected [Deaf] individuals. The blood samples were immediately dispatched to Molecular genetic laboratory, Quaid I Azam University, Islamabad for analysis 2006 2007. In family A, linkage was established to DFNB47 locus on the chromosome 2p25.1-p24.3. In family B, linkage to DFNB1 locus was excluded first by genotyping polymorphic microsatellite markers linked to the candidate region and then by sequencing GJB2 gene. The genetic mapping of candidates of deafness genes brings greater understanding of molecular basis of deafness and would modify the preventive and curative methods