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J. Islam. Int. Med. Coll.. 2012; 7(1): 15-19

Genetic Mapping of Candidates of Deafness Genes in Pakistani Families

Irum Afshan, Mubin Mustafa, Nasim Ilyas, Usman Nawaz, Kashif Rahim, Saleem Murtaza.


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 familyAand B were selected for the study. FamilyAcomprises 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.

Key words: DNF, DNA, GJB,PCRand Electrophoresis

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