Stökkbreytingin ΔF508 greind í sjúklingum með cystic fibrosis

Reynir Arngrímsson, Benjamín Bjartmarsson, Jennifer Lambert, Sigurður Þorgrímsson, Þórólfur Guðnason, Hörður Bergsteinsson

Research output: Contribution to journalArticlepeer-review

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.
Original languageIcelandic
JournalLæknablaðið
Publication statusPublished - 1 Aug 1994

Other keywords

  • Erfðasjúkdómar
  • Stökkbreytingar
  • Cystic Fibrosis
  • Mutation
  • Iceland

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