Autosomal Recessive Deafness is Heterogeneous in Pakistani Pakhtun Population

S.M. Ibrahim ； S. Ahmad ； R. Tareen ； F.U. Amin

《Current Research Journal of Biological Sciences》 3卷1期 (2011/01) Pp. 17-24

並列摘要

The aim of this study was to elucidate the genetic cause of non-syndromic autosomal recessive deafness in Pakistani Pakhtun ethnic group. Hearing loss is one of the most common hereditary disorders in humans affecting approximately 1/1000 children at birth or during early childhood. Seven Pakhtun families containing at least three members affected with pre-lingual, severe to profound sensorineural deafness were enrolled from different regions of the Khyber Pakhtunkhwa province of Pakistan. Detailed history of each family was taken for the confirmation of consanguineous marriages and pedigree drawing. Blood samples from all participants were obtained for genetic analysis by genotyping, haplotype analysis and LOD score calculation. Four among the seven families showed linkage to known loci/genes. PKDF935 family showed linkage to the markers flanking DFNB9/OTOF and was defined to the boundaries of critical region at 2p22-p23. The affected individuals of the family PKDF941 were homozygous for markers used for the screening of DFNB49/TRIC. PKDF950 family showed linkage to DFNB37/MYO6-linked STRs markers. The affected individuals of the family PKDF953 showed linkage with chromosome 7 markers harboring recessive deafness loci DFNB4/PDS and DFNB14. The present study shows the presence of different loci in Pakhtun ethnic group that indicates genetic heterogeneity in autosomal recessive deafness in Pakhtun population of Pakistan. This study will also help to reduce the incidence of deafness in Pakistani population by carrier screening within the families with multiple affected individuals to identify the persons at a high risk.

並列關鍵字

Consanguineous marriages ； deafness ； genetic analysis ； hereditary disorder