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Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India.


ABSTRACT:

Background

DFNB1, the first locus to have been associated with deafness, has two major genes GJB2 & GJB6, whose mutations have played vital role in hearing impairment across many ethnicities in the world. In our present study we have focused on the role of these mutations in assortative mating hearing impaired families from south India.

Methods

One hundred and six assortatively mating hearing impaired (HI) families of south Indian origin comprising of two subsets: 60 deaf marrying deaf (DXD) families and 46 deaf marrying normal hearing (DXN) families were recruited for this study. In the 60 DXD families, 335 members comprising of 118 HI mates, 63 other HI members and 154 normal hearing members and in the 46 DXN families, 281 members comprising of 46 HI and their 43 normal he

SUBMITTER: Amritkumar P 

PROVIDER: S-EPMC6008914 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature