Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX(R) technology

• Grant number: 15/21350-5
• Support Opportunities: Regular Research Grants - Publications - Scientific article
• Start date: December 01, 2015
• End date: January 31, 2017
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Edi Lúcia Sartorato
• Grantee: Edi Lúcia Sartorato
• Host Institution: Centro de Biologia Molecular e Engenharia Genética (CBMEG). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil

Abstract

Recent advances in molecular genetics have enabled to determine the genetic causes of non-syndromic hearing loss, and more than 100 genes have been related to the phenotype. Due to this extraordinary genetic heterogeneity, a large percentage of patients remain without any molecular diagnosis. This condition imply the need for new methodological strategies in order to detect a greater number of mutations in multiple genes. In this work, we optimized and tested a panel of 86 mutations in 17 different genes screened using a high-throughput genotyping technology to determine the molecular etiology of hearing loss. (AU)