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Leit að stökkbreytingunum FVQ506 (storkuþáttur VLeiden) og prótrombíni 20210 A hjá heilbrigðum og sjúklingum með bláæðasega

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Authors
Ísleifur Ólafsson
Sigríður Hjaltadóttir
Páll Torfi Önundarson
Ragnheiður Þórarinsdóttir
Vilhelmína Haraldsdóttir
Issue Date
1997-07-01

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Other Titles
Factor VQ50f) and prothrombin 20210 A mutations in an Icelandic apparently healthy population and patients suffering from venous thrombosis
Citation
Læknablaðið 1997, 83(7-8):486-91
Abstract
Introduction: Inherited and aquired factors are important in the pathogenesis of thrombosis. Recent studies have demonstrated that mutations in the genes encoding coagulation factor V (FVQ506 or FVLeiden) and prothrombin (PT 20210 A) predispose to a markedly increased risk of venous thrombosis. FVQ506 is considered to be the most frequent cause of inherited venous thrombosis in Europeans and the allele frequency has been shown to be high. The aim of this study was to determine the allele frequency of the two mutations in an apparently healthy Icelandic population and patients suffering from venous thrombosis. Material and methods: An apparently healthy Icelandic population and patients suffering from venous thrombosis were genotyped for the presence or absence of the FVQ506 and PT 20210 A mutations using PCR and restrictions fragment length polymorphisms. Results: The allele frequency of FVQ506 was 0.0315 in the healthy population (n=159; 10 heterozygotes found). Fifteen of 99 patients with venous thrombosis were found to be heterozygous for FVQ506 (15.2%; allele frequency 0.071), significantly more when compared to controls (p<0.01). One apparently healthy individual (0.9%; n=108) and one of the patients (0.95%; n=99) were found to be heterozygous for PT 20210 A. Conclusion: The results demonstrate high prevalence of FVQ506 in the Icelandic population compared with many other European populations and that FVQ506 is commonly associated with venous thrombosis.
Inngangur: Orsakir bláæðasega geta ýmist verið áunnar eöa arfgengar, en líklega er um samspil áunninna eöa arfgengra þátta að ræða í flestum tilfellum. Nýlegar rannsóknir hafa sýnt fram á tengsl stökkbreytinga í genum storkuþáttar V (FVQ506, FVLeiden) og prótrombíns (PT 20210 A) við aukna hættu á segamyndun í bláæðum. Í Evrópu er FVQ506 talin vera algengasta orsök arfgengs bláæðasega og tíðni stökkbreytingarinnar er víða há. Tilgangur þessarar rannsóknar var að ákvarða samsætutíðni þessara tveggja stökkbreytinga í heilbrigðu íslensku þýði og hjá sjúklingum með bláæðasega Aðferðir: Arfgerðargreining meö tilliti til stökkbreytinganna FVQ506 og PT 20210 A var gerö á heilbrigðum íslendingum og sjúklingum með bláæðasega og var til þess notað fjölliðunarhvarf og skerðibútabreytileiki. Niðurstöður: Samsætutíðni FVQ506 meðal heilbrigðra var 0,0315 (n=159; 10 arfblendnir fundust). Fimmtán af 99 sjúklingum með bláæðasega reyndust arfblendnir með tilliti til FVQ506 (15,2%; samsætutíðni 0,071), og var sá fjöldi marktækt hærri en hjá heilbrigðum (p<0,01). Arfblendni fyrir stökkbreytingunni PT 20210 A fannst hjá einum heilbrigðum (0,9%; n=108) og einum sjúklingi (0,95%; n=99). Tilgáta: Niðurstöður rannsóknarinnar sýna að tíðni stökkbreytingarinnar FVQ506 á Íslandi er há miðað við mörg Evrópulönd, en tíðni PT 20210 A er heldur lægri en meðal Hollendinga. Þær sýna einnig að FVQ506 stökkbreytingin er algeng meðvirkandi orsök bláæðasega á Íslandi.
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