Implications in disclosing auditory genetic mutation to a family: a case study.

Abstract:

:The aim of the study is to understand the implications of disclosing the results of connexin26 (Cx26) gene testing to the concerned family with hearing impaired individuals. The department of biotechnology is funding a multicentric multidisciplinary team from Jawaharlal Nehru Center for Advanced Scientific Research (Bangalore), AYJNIHH (Mumbai), PGIBMS (Chennai), and MAMC (New Delhi) to profile mutations of deafness genes in India. Under this program, blood samples were taken from various centers and were sent to JNCASR for genetic analysis (screening for Cx26 mutations). This case study is an attempt to bring out issues encountered when disclosing the implications of genetic diagnosis to the concerned family.

journal_name

Int J Audiol

authors

Shekhawat GS,RamShankar M,Jalvi RR,Rangasayee R,Anand A

doi

10.1080/14992020701297805

subject

Has Abstract

pub_date

2007-07-01 00:00:00

pages

384-7

issue

7

eissn

1499-2027

issn

1708-8186

pii

781144004

journal_volume

46

pub_type

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