title: [An attempt to identify the most frequent genomic mutations responsible for isolated deafness in patients after cochlear implantation].
abstract: The aim of this study was to identify subjects with 35delG mutation of GJB2 gene as the most frequent genetic cause of deafness. Deaf patients receiving cochlear implantation at the ENT Clinic at University of Medical Sciences in Poznań and their family members were recruited to the study. Peripheral blood lymphocytes DNA was amplified in allele-specific PCR and analysed for single strand conformation polymorphism (SSCP) to detect mutation at DFNB1 locus. 35delG mutation at both alleles was found at 42.9% of deaf patients and 29.4% of health relatives were found to be carrier of the mutation at one allele. The study is thought to be a first step in analysis of typical mutations in Polish deaf population.
authors.affiliation: Klinika Otolaryngologii Akademii Medycznej w Poznaniu.
authors.forename: W
authors.initials: W
authors.lastname: Szyfter
authors.forename: A
authors.initials: A
authors.lastname: Pruszewicz
authors.forename: H P
authors.initials: HP
authors.lastname: Zenner
authors.forename: M
authors.initials: M
authors.lastname: Pfister
authors.forename: K
authors.initials: K
authors.lastname: Szyfter
authors.forename: N
authors.initials: N
authors.lastname: Blin
authors.forename: M
authors.initials: M
authors.lastname: Wróbel
authors.forename: J
authors.initials: J
authors.lastname: Łaczkowska
authors.forename: A
authors.initials: A
authors.lastname: Gawlak
authors.forename: S
authors.initials: S
authors.lastname: Kupka
authors.forename: A
authors.initials: A
authors.lastname: Sekula
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D019929:Cochlear Implantation; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004247:DNA / Q000302:isolation & purification; D003638:Deafness / Q000235:genetics* / Q000628:therapy*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26; D004247:DNA