Sökning: id:"swepub:oai:DiVA.org:oru-26479" >
GJB2 (Connexin 26) ...
-
Carlsson, Per-Inge,1959-Department of Otorhinolaryngology, Central Hospital, Karlstad, Sweden; Audiological Research Centre, Örebro University Hospital, Örebro, Sweden
(författare)
GJB2 (Connexin 26) gene mutations among hearing-impaired persons in a Swedish cohort
- Artikel/kapitelEngelska2012
Förlag, utgivningsår, omfång ...
-
2012-10-07
-
London, United Kingdom :Informa Healthcare,2012
-
printrdacarrier
Nummerbeteckningar
-
LIBRIS-ID:oai:DiVA.org:oru-26479
-
https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-26479URI
-
https://doi.org/10.3109/00016489.2012.701018DOI
-
http://kipublications.ki.se/Default.aspx?queryparsed=id:125624786URI
Kompletterande språkuppgifter
-
Språk:engelska
-
Sammanfattning på:engelska
Ingår i deldatabas
Klassifikation
-
Ämneskategori:ref swepub-contenttype
-
Ämneskategori:art swepub-publicationtype
Anmärkningar
-
Conclusion: The most common mutation in the Swedish population was Connexin 26 (C×26) 35delG, which indicates that the percentage of Swedish persons with C×26 mutations and polymorphisms in the GJB2 gene among non-syndromic hearing-impaired (HI) persons is comparable to the rest of Europe. The results strongly support a Swedish policy to offer all children with diagnosed hearing impairment genetic tests for the C×26 35delG mutation.Objectives: The aim of the present study was to search for mutations in the GBJ2 gene among Swedish persons with non-syndromic hearing impairment to further clarify how common these mutations are in Sweden, one of the northernmost countries in Europe.Methods: Seventy-nine patients with non-syndromic hearing impairment participated in the study. For 87% of the participants, a pure tone audiogram showed a severe or profound hearing impairment. Dried blood spots on filter paper, taken at 3-5 days of age in the Swedish nationwide neonatal screening programme for congenital disorders and saved in a biobank, were used for the molecular genetic analyses.Results: The total number of subjects with one or two pathologic mutations or a mutation of unknown consequence found in the GJB2 gene was 28 of 79 (35%). Nineteen (19) persons (24%) were homozygotes for the 35delG mutation.
Ämnesord och genrebeteckningar
Biuppslag (personer, institutioner, konferenser, titlar ...)
-
Karltorp, EvaKarolinska Institutet
(författare)
-
Carlsson-Hansén, EvaDepartment of Audiology, Örebro University Hospital, Örebro, Sweden
(författare)
-
Åhlman, HenrikCentre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden
(författare)
-
Möller, Claes,1950-Audiological Research Centre, Örebro University Hospital, Örebro, Sweden; Department of Otorhinolaryngology Karolinska University Hospital, Stockholm, Sweden(Swepub:oru)cmr
(författare)
-
von Döbeln, UlrikaCentre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden
(författare)
-
Vondobeln, UKarolinska Institutet
(författare)
-
Karolinska InstitutetDepartment of Otorhinolaryngology, Central Hospital, Karlstad, Sweden; Audiological Research Centre, Örebro University Hospital, Örebro, Sweden
(creator_code:org_t)
Sammanhörande titlar
-
Ingår i:Acta Oto-LaryngologicaLondon, United Kingdom : Informa Healthcare132:12, s. 1301-13050001-64891651-2251
Internetlänk
Hitta via bibliotek
Till lärosätets databas