Abstract
: Mutations in gene coding for hepatocyte growth factor protein, HGF are responsible for
hereditary deafness worldwide. Evaluation of recurrent variations displays prevalent heredity diversity of
a specific population. Mutational screening of HGF was aimed to ascertain the causative recurrent
variations in Kashmiri families.
Methods: Kashmiri families were enrolled from different divisions of Azad Jammu and Kashmir. By employing
linkage analysis all the families were screened for loci common in Pakistani population. Families linked with
DFNB39 locus were subjected to direct sequencing for mutational analysis of variants prevalent in Pakistani
population.
Results: Sanger sequencing identified a noncoding c.482+1986_1988delTGA variant of HGF as recurrent
mutation in Kashmiri population. These findings implicate this HGF variant as major contributing variant of
hearing impairment in Kashmiri families with a frequency of 8.8%
Kalsoom Zaigham, Hamna Tariq, Tanveer Ahmed Qaiser, Saad Bin Maqsood, Asma Ali Khan. (2019) Evaluation of a recurrent mutation in HGF gene responsible for non-syndromic hereditary deafness in Kashmiri population, Advancements in Life Sciences, Volume 7, Issue 4.
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