Article
Screening for non-syndromic hearing loss in Southern Hungary: genetics and audiology
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Published: | April 19, 2011 |
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As hearing loss is one of the most abundant hearing disorders, and its inheritable, non-syndromic variant is hard to detect early enough, we decided to screen a large population sample – 318 patients – for mutations in 10 genes (GJB2, GJB3, GJB6, GJA1, COCH, KCNQ4, MYO6, POU3F4, 12s rRNA/MTRNR1, SLC26A4). 47 regions were chosen in total in these 10 genes, then they were amplified with polymerase chain reaction (PCR), and denaturing high performance liquid chromatography (dHPLC) was used to look for possible mutations. Samples that were susceptible to genetic alterations based on the dHPLC measurements were then sequence analyzed. We developed a method also, that makes us possible to store blood very cheaply for a longer period of time, yet have it remain usable for subsequent genetic testing. Subjective audiological data was collected of our patients and is presented as well.
Supported by: GVOP-3-1-1-2004-05-0498/3.0