Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology.

ABSTRACT:

Background

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.

Methods

The technology used in this work was the MassARRAY iPLEX® platform. This technology uses silicon chips and DNA amplification products for accurate g

SUBMITTER: Svidnicki MC 

PROVIDER: S-EPMC4581412 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature