Co‐segregation of the PROS1 locus and protein S deficiency in families having no detectable mutations in PROS1
| Autor: | Andreas Hillarp, Christer Halldén, Anna Johansson, Björn Dahlbäck, Elsa Lanke, Bengt Zöller, Stefan Lethagen |
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| Rok vydání: | 2004 |
| Předmět: |
Male
Protein S Deficiency DNA Mutational Analysis Inheritance Patterns Locus (genetics) DNA sequencing Protein S medicine Humans Cardiac and Cardiovascular Systems Protein S deficiency Gene Family Health Genetics biology Haplotype Hematology medicine.disease Molecular biology Pedigree Haplotypes Mutation biology.protein Microsatellite Female Lod Score Protein C Microsatellite Repeats medicine.drug |
| Zdroj: | Journal of Thrombosis and Haemostasis; 2(11), pp 1918-1923 (2004) |
| ISSN: | 1538-7836 1538-7933 |
| DOI: | 10.1111/j.1538-7836.2004.00950.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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