Genetic Mapping of Candidates of Deafness Genes in Pakistani Families

Abstract

Objective: DNA analysis 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.