gms | German Medical Science

82. Jahresversammlung der Deutschen Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie e. V.

Deutsche Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie e. V.

01.06. - 05.06.2011, Freiburg

Artikel

Artikel empfehlen

Screening for non-syndromic hearing loss in Southern Hungary: genetics and audiology

Meeting Abstract

Suche in Medline nach

  • corresponding author Attila Nagy - University of Szeged, Department of Oto-rhino-laryngology and Head and Neck Surg, Szeged, Ungarn
  • Róbert Csáki - Alfa-Biosoft Ltd., Szeged, Hungary
  • József Klem - University of Szeged, Faculty of Sciences, Institute of Biotechnology, Szeged, Hungary
  • László Rovó - University of Szeged, Department of Oto-rhino-laryngology and Head and Neck Surg, Szeged, Hungary
  • Ferenc Tóth - University of Szeged, Department of Oto-rhino-laryngology and Head and Neck Surg, Szeged, Hungary
  • Gyula Tálosi - University of Szeged, Department of Pediatrics, Szeged, Hungary
  • József Jóri - University of Szeged, Department of Oto-rhino-laryngology and Head and Neck Surg, Szeged, Hungary
  • Kornél Kovács - University of Szeged, Faculty of Sciences, Institute of Biotechnology, Szeged, Hungary
  • József Géza Kiss - University of Szeged, Department of Oto-rhino-laryngology and Head and Neck Surg, Szeged, Hungary

Deutsche Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie. 82. Jahresversammlung der Deutschen Gesellschaft für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie. Freiburg i. Br., 01.-05.06.2011. Düsseldorf: German Medical Science GMS Publishing House; 2011. Doc11hnod418

doi: 10.3205/11hnod418, urn:nbn:de:0183-11hnod4182

Veröffentlicht: 19. April 2011

© 2011 Nagy et al.
Dieser Artikel ist ein Open Access-Artikel und steht unter den Creative Commons Lizenzbedingungen (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.de). Er darf vervielfältigt, verbreitet und öffentlich zugänglich gemacht werden, vorausgesetzt dass Autor und Quelle genannt werden.

Gliederung

Text

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