Linkage study of DFNB3 responsible for hearing loss in human.
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Date
2013-07
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Abstract
BACKGROUND: Hearing disorders represent a significant
health problem worldwide. Recessive inherited cases
of the deafness are more prevalent in Pakistan due to
consanguineous marriages. Deafness caused by DFNB3
is due to mutation in the gene MYO XVA and its prevalence
among Pakistani population is about 5%.
MATERIALS AND METHODS: Families with at least two
or more individual affected with deafness were selected
from different areas of District Okara of Pakistan. Six
consanguineous families of different ethnic groups having
deaf individuals were studied. All these families had
three or more deaf individuals in either two or more sib
ships. Family history was taken to minimize the chances
of other abnormalities. Pedigrees drawn by using Cyrillic
software (version 2.1) showed that all the marriages were
consanguineous and the families have recessive mode
of inheritance. Three STR markers were selected and
amplified on all the samples of six families through PCR.
The PCR products were then genotyped on non denaturing
polyacrylamide gel electrophoresis (PAGE). Haplotypes
were constructed to determine the pattern of inheritance and
also to determine whether a family was linked or unlinked
with known DFNB3 locus.
RESULTS: One out of six families showed linkage to
the DFNB3 while rest of the families remained unlinked.
Carriers of deafness genes were identified and information
was provided to the families on request.
CONCLUSION: Knowledge about the genetic causes of
deafness provide insight into the variable expression of
genes involved in this hereditary problem and may allow the
prediction and prevention of associated health problems.
Description
Keywords
Consanguineous, deafness, linkage analysis, microsatellite markers, polyacrylamide gel electrophoresis
Citation
Ali Akhtar, Babar Masroor E, Kalsoom Saeeda, Ahmad Jamil, Abbas Kamran. Linkage study of DFNB3 responsible for hearing loss in human. Indian Journal of Human Genetics. 2013 July-Sept ;19 (3): 325-330.