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.
Originalspråk | Engelska |
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Sidor (från-till) | 1918-1923 |
Antal sidor | 5 |
Tidskrift | Journal of Thrombosis and Haemostasis |
Volym | 2 |
Nummer | 11 |
DOI | |
Status | Publicerad - 2004 |
Externt publicerad | Ja |
Nationell ämneskategori
- Medicin och hälsovetenskap (3)