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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.
| Abbreviations | ||
| Cx26 | = | Connexin 26 mutation |
| SLP | = | Speech language pathologist |
| W24X mutation | = | Type of mutation |
| Abbreviations | ||
| Cx26 | = | Connexin 26 mutation |
| SLP | = | Speech language pathologist |
| W24X mutation | = | Type of mutation |
Sumario
El objetivo de este estudio es entender las implicaciones de revelar los resultados de una prueba del gen connexina 26 (Cx26) a la familia vinculada con individuos con trastornos auditivos. El departamento de biotecnología está patrocinando un equipo multi-céntrico y multi-disciplinario, del Centro Jawaharlal Nehru para la Investigación Científica Avanzada (Bangalore), AYJNIHH (Mumbai), PGIBMS (Chennai), y MAMC (Nueva Delhi), para realizar perfiles de genes de sordera en la India. Bajo este programa, se tomaron muestras de sangre de varios centros y se enviaron a JNCASR para análisis genético (estudio por mutaciones Cx26). El estudio de este caso es un intento de mostrar asuntos que ocurren cuando se le revela a una familia las implicaciones del diagnóstico genético.