Abstract
Objective: DNAanalysis for the Genetic Mapping of Candidates of Deafness Genes in Pakistani Families.
Study Design:It was a cross sectional study.
Place and Duration of the 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.
Materials and Methods:Study was conducted on two Pakistani families.
Subjects (Families) selected for the study:
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.
Results: 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
Conclusion: The genetic mapping of candidates of deafness genes brings greater understanding of molecular
basis of deafness and would modify the preventive and curative methods.
Irum Afshan, Mubin Mustafa, Nasim Ilyas, Usman Nawaz, Kashif Rahim, Saleem Murtaza. (2012) Genetic Mapping of Candidates of Deafness Genes in Pakistani Families, Journal of Islamic International Medical College, Volume-7, Issue-1.
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