Co-segregation of the PROS1 locus and protein S deficiency in families having no detectable mutations in PROS1

E. Lanke, A. M. Johansson, A. Hillarp, S. Lethagen, B. Zöller, B. Dahlbäck, Christer Halldén

Forskningsoutput: TidskriftsbidragArtikelPeer review

Sammanfattning

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.

OriginalspråkEngelska
Sidor (från-till)1918-1923
Antal sidor5
TidskriftJournal of Thrombosis and Haemostasis
Volym2
Utgåva11
DOI
StatusPublicerad - 2004
Externt publiceradJa

Nationell ämneskategori

  • Medicin och hälsovetenskap (3)

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