Genetic deafness is a common disorder affecting 1 in 2000 individuals. Its spectrum is broad and ranges from simple deafness without other clinical abnormalities to genetically determined syndromes in which deafness is one of a number of clinically recognizable signs. Overall the most common forms of genetic deafness are the non-syndromic neurosensory autosomal recessive deafness (NSRD) accounting for >75% of all cases. One of the major goal in this field is the identification and cloning of genes responsible for nonsyndromic deafness, in particular of those causing NSRD. Up to now, 12 different loci responsible for NSRD have been identified. In a recent study we demonstrated that DFNB1, a susceptibility locus responsible for NSRD mapping to the pericentromeric region of chromosome 13q, plays an important role in 60% of Caucasian families. Using a semi-automated procedure characterized by a robot station coupled with an automatic sequencing machine, and with a software able to rapidly and accurately analyze microsatellite markers, we have now analyzed polymorphic markers linked to DFNB2 and to DFNB4 in 40% of families previously ascertained not to be linked to DFNB1. Our data suggest that most likely an additional proportion of about 15% of cases could be associated to these last two loci.
|Number of pages||5|
|Publication status||Published - Jun 1997|
- DNA automatic analysis
ASJC Scopus subject areas
- Applied Microbiology and Biotechnology