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Co-segregation of the PROS1 locus and protein S deficiency in families having no detectable mutations in PROS1
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2004 (English)In: Journal of Thrombosis and Haemostasis, ISSN 1538-7933, E-ISSN 1538-7836, Vol. 2, no 11, p. 1918-1923Article in journal (Refereed) Published
Abstract [en]

Inherited deficiency of protein S constitutes an important risk factor of venous thrombosis. Many reports have demonstrated that causative mutations in the protein S gene are found only in approximately 50% of the cases with protein S deficiency. It is uncertain whether the protein S gene is causative in all cases of protein S deficiency or if other genes are involved in cases where no mutation is identified. The aim of the current study was to determine whether haplotypes of the protein S gene cosegregate with the disease phenotype in cases where no mutations have been found. Eight protein S-deficient families comprising 115 individuals where previous DNA sequencing had failed to detect any causative mutations were analyzed using four microsatellite markers in the protein S gene region. Co-segregation between microsatellite haplotypes and protein S deficiency was found in seven of the investigated families, one family being uninformative. This suggests that the causative genetic defects are located in or close to the protein S gene in a majority of such cases where no mutations have been found.

Place, publisher, year, edition, pages
2004. Vol. 2, no 11, p. 1918-1923
Keywords [en]
coagulation, PROS1, protein C, protein S, vitamin K, thrombosis
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:hkr:diva-8182DOI: 10.1111/j.1538-7836.2004.00950.xPubMedID: 15550022OAI: oai:DiVA.org:hkr-8182DiVA, id: diva2:424485
Available from: 2011-06-17 Created: 2011-06-17 Last updated: 2017-12-11Bibliographically approved

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Halldén, Christer

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  • fi-FI
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  • nn-NB
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  • Other locale
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