2.50
Hdl Handle:
http://hdl.handle.net/2336/74518
Title:
Stökkbreytingin ΔF508 greind í sjúklingum með cystic fibrosis
Other Titles:
The ΔF508 mutation in cystic fibrosis patients
Authors:
Reynir Arngrímsson; Benjamín Bjartmarsson; Lambert, Jennifer; Sigurður Þorgrímsson; Þórólfur Guðnason; Hörður Bergsteinsson
Citation:
Læknablaðið 1994, 80(6):219-22
Issue Date:
1-Aug-1994
Abstract:
Cystic fibrosis is a serious autosomal recessive disorder. It is commonest among the white Caucasian populations in North and Western Europe. However, no information is available on this disease in Iceland. Only 21 patients have been diagnosed with this condition in Iceland since 1958, hence the prevalence is estimated to be around 1/7000. Three young children, aged 6-30 months, with clinical symptoms suggestive of cystic fibrosis: namely recurrent respiratory infections, malabsorption of fat, low trypsin and chymotrypsin activity and positive sweat test, were investigated. Mutational analysis revealed that all three children were homozygous for the AF508 mutation in the cystic fibrosis gene. This is the first report of cystic fibrosis in Iceland. It is expected that 2-3% of the population are carriers of cystic fibrosis. Identification of all disease-causing mutations in the population should be feasible and encouraged.; Cystic fibrosis er algengastur ókynbundinna erfðasjúkdóma hjá Vesturlandabúum. Þessi sjúkdómur hefur hinsvegar verið talinn sjaldgæfur á Íslandi. Sjúkdómurinn er alvarlegur og leiðir oftast til dauða innan við þrítugt. Erfðagallann má rekja til stökkbreytinga í geni sem skráir 1480 amínósýrur sem mynda 68 kd prótin (cystic fibrosis transmembrane conductance regulator). Hér er í fyrsta sinn lýst íslenskum einstaklingum með stökkbreytingu í þessu geni, sem veldur brottfalli á amínósýrunni phenylalanine og leiðir til cystic fibrosis.
Description:
Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/Open
Additional Links:
http://www.laeknabladid.is

Full metadata record

DC FieldValue Language
dc.contributor.authorReynir Arngrímsson-
dc.contributor.authorBenjamín Bjartmarsson-
dc.contributor.authorLambert, Jennifer-
dc.contributor.authorSigurður Þorgrímsson-
dc.contributor.authorÞórólfur Guðnason-
dc.contributor.authorHörður Bergsteinsson-
dc.date.accessioned2009-07-20T14:10:50Z-
dc.date.available2009-07-20T14:10:50Z-
dc.date.issued1994-08-01-
dc.date.submitted2009-07-20-
dc.identifier.citationLæknablaðið 1994, 80(6):219-22en
dc.identifier.issn0023-7213-
dc.identifier.urihttp://hdl.handle.net/2336/74518-
dc.descriptionNeðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/Openen
dc.description.abstractCystic fibrosis is a serious autosomal recessive disorder. It is commonest among the white Caucasian populations in North and Western Europe. However, no information is available on this disease in Iceland. Only 21 patients have been diagnosed with this condition in Iceland since 1958, hence the prevalence is estimated to be around 1/7000. Three young children, aged 6-30 months, with clinical symptoms suggestive of cystic fibrosis: namely recurrent respiratory infections, malabsorption of fat, low trypsin and chymotrypsin activity and positive sweat test, were investigated. Mutational analysis revealed that all three children were homozygous for the AF508 mutation in the cystic fibrosis gene. This is the first report of cystic fibrosis in Iceland. It is expected that 2-3% of the population are carriers of cystic fibrosis. Identification of all disease-causing mutations in the population should be feasible and encouraged.en
dc.description.abstractCystic fibrosis er algengastur ókynbundinna erfðasjúkdóma hjá Vesturlandabúum. Þessi sjúkdómur hefur hinsvegar verið talinn sjaldgæfur á Íslandi. Sjúkdómurinn er alvarlegur og leiðir oftast til dauða innan við þrítugt. Erfðagallann má rekja til stökkbreytinga í geni sem skráir 1480 amínósýrur sem mynda 68 kd prótin (cystic fibrosis transmembrane conductance regulator). Hér er í fyrsta sinn lýst íslenskum einstaklingum með stökkbreytingu í þessu geni, sem veldur brottfalli á amínósýrunni phenylalanine og leiðir til cystic fibrosis.en
dc.language.isoisen
dc.publisherLæknafélag Íslands, Læknafélag Reykjavíkuren
dc.relation.urlhttp://www.laeknabladid.isen
dc.subjectErfðasjúkdómaren
dc.subjectStökkbreytingaren
dc.subject.meshCystic Fibrosisen
dc.subject.meshMutationen
dc.subject.meshIcelanden
dc.titleStökkbreytingin ΔF508 greind í sjúklingum með cystic fibrosisis
dc.title.alternativeThe ΔF508 mutation in cystic fibrosis patientsen
dc.typeArticleen
dc.identifier.journalLæknablaðiðen
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