Introduction- The G to A transition at position 20 210 of the prothrombin gene was reported by Poort et al in November 1996. They found a correlation between the presence of the 20 210 A allele and an elevated prothrombin level. PATIENTS AND METHODS - Two members of a thrombophiliac family were examined for the F II 20 210 A gene mutation as a potencial cause of their disease with polymerase chain reaction and restriction enzime fragmentation. Two healthy controls were also examined. RESULTS - Both of the patients proved to have the 20 210 A prothrombin gene allele, the 20 210 A/G genotype. CONCLUSION - This mutation is a novel minor abnormality increasing the risk of thrombosis, which together with other defects cause the serious, inherited thrombophilia of this family.
|Translated title of the contribution||An inherited variant of the prothrombin production (F II 20 210 A): A possible couse of thhrombophilia|
|Number of pages||4|
|Journal||Lege Artis Medicinae|
|Publication status||Published - Sep 26 1997|
ASJC Scopus subject areas