|
Abstract
|
Article Information:
Autosomal Recessive Deafness is Heterogeneous in Pakistani Pakhtun Population
S.M. Ibrahim, S. Ahmad, R. Tareen and F.U. Amin
Corresponding Author: Syed Muhammad Ibrahim
Submitted: 2010 September, 27
Accepted: 2010 December, 02
Published: 2011 January, 15 |
Abstract:
|
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 w ith 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 fam ily PKDF953 showed linkage with chromosome 7 m arkers 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.
Key words: Consanguineous marriages, deafness, genetic analysis, hereditary disorder, , ,
|
|
Abstract
|
PDF
|
HTML |
|
Cite this Reference:
S.M. Ibrahim, S. Ahmad, R. Tareen and F.U. Amin, . Autosomal Recessive Deafness is Heterogeneous in Pakistani Pakhtun Population. Current Research Journal of Biological Sciences, (1): 17-24.
|
|
|
|
 |
ISSN (Online): 2041-0778
ISSN (Print): 2041-076X |
 |
| Information |
|
|
|
|
| Sales & Services |
|
|
|
|
