DefinePK

Abstract

Deafness is inherited most commonly following autosomal recessive mode of inheritance as isolated clinical finding .Genetic and clinical heterogeneity of disorder prevent pooling of affected families and is a big barrier in gene mapping by conventional techniques. However, because of consanguinity, linkage analysis can be used to find disease causing loci /genes in small nuclear families. This study demonstrates the power of this technique by identifying two families segregating their disease phenotype with DFNB3/MYO15A.
http://dx.doi.org/10.19045/bspab.2015.42002