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Tíðni svipgerða α1-andtrýpsíns meðal Íslendinga

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Authors
Ísleifur Ólafsson
Sigríður Hjaltadóttir.
Issue Date
1996-04-01

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Other Titles
Distribution of α1-antitrypsin phenotypes in Icelanders
Citation
Læknablaðið 1996, 82(4):293-4, 296
Abstract
Although the Z and S alleles causing α1-arantitrypsin deficiency are present at a high frequency in Northern Europeans, α1-arantitrypsin deficiency has never been identified in an Icelandic patient. In this study the frequency of the major α1-antitrypsin phenotypes M, F, S and Z, was determined in 511 unrelated Icelandic individuals by isoelectric focusing in polyacrylamide gel slabs. The frequencies of the alleles in this population were: M = 0.946; F = 0.006; S = 0.037; and Z = 0.011. The results demonstrate the presence of α1-arantitrypsin deficiency alleles in the Icelandic population at somewhat lower allele frequency than is found in the other Nordic populations.
Arfgengur α1-arandtrýpsínskortur er vel þekktur áhættuþáttur fyrir lungnaþembu. Þó að helstu genaafbrigðin sem valda skortinum, það er samsæturnar S og Z, séu tiltölulega algengar meðal þjóða af norrænu kyni, hefur α1-arandtrýpsínskortur aldrei greinst hér á landi. Tilgangur rannsóknarinnar var að athuga hvort genaafbrigði α1-andtrýpsínskorts væri að finna meðal Íslendinga. Svipgerð α1-arandtrýpsíns var ákvörðuð með rafhvarfsmiðun hjá 511 óskyldum einstaklingum. Allar helstu svipgerðirnar fundust í þýðinu. Reiknuð samsætutíðni þeirra var: M = 0,946; F = 0,006; S = 0,037; og Z = 0,011. Niðurstöður rannsóknarinnar sýna að þær gerðir samsætna sem valda α1-arandtrýpsínskorti eru til staðar á Íslandi, en tíðni þeirra er nokkuð lægri en í öðrum norrænum þýðum. Niðurstööurnar benda einnig til vangreiningar á α1-andtrýpsínskorti hér á landi.
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http://www.laeknabladid.is
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Icelandic Journal Articles (Peer Reviewed)

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