Napredna pretraga

Pregled bibliografske jedinice broj: 735620

The prevalence of the 35delG mutation in GJB2 gene in patients with non-syndromic hearing loss from Croatia


Sansović, Ivona; Knežević, Jelena; Matijević, Tanja; Balen, Sanja; Barišić, Ingebprg; Pavelić, Jasminka
The prevalence of the 35delG mutation in GJB2 gene in patients with non-syndromic hearing loss from Croatia // Genetic testing, 9 (2005), 4; 297-300 doi:10.1089/gte.2005.9.297 (međunarodna recenzija, članak, znanstveni)


Naslov
The prevalence of the 35delG mutation in GJB2 gene in patients with non-syndromic hearing loss from Croatia

Autori
Sansović, Ivona ; Knežević, Jelena ; Matijević, Tanja ; Balen, Sanja ; Barišić, Ingebprg ; Pavelić, Jasminka

Izvornik
Genetic testing (1090-6576) 9 (2005), 4; 297-300

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Hearring loss; 35delG mutation; Croatia

Sažetak
The aim of this study was to investigate the allelic frequency of 35delG mutation in patients with recessive, nonsyndromic hearing loss (NSHL) compared to normal hearing individuals in the Croatian population. For this purpose, we analyzed 27 unrelated individuals with nonsyndromic hearing loss and 342 healthy individuals. The method we used is based on the principle of polymerase chain reaction (PCR)-mediated, site-directed mutagenesis, followed by a BsiYI digestion. Among patients with NSHL, the 35delG mutation was found on 51.85% alleles. Carrier frequency among healthy control individuals was 1 in 68.4 (1.5%). The patients, found to be wild-type, either in heterozygous or homozygous form, were further tested by direct sequencing. Among them, two different mutations were observed, W24X and 313del14. Relatively high prevalence of 35delG mutation among patients with NSHL indicate that it is an important cause of NSHL in Croatia. Early diagnosis by identification of the 35delG mutation would greatly improve genetic counseling, as well as treatment and management of deafness in Croatia.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Projekt / tema
072-1083107-0365 - Istraživanje epidemiologijskih i genetičkih osnova prirođenih mana (Ingeborg Barišić, )

Ustanove
Klinika za dječje bolesti Medicinskog fakulteta

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE


Citati