The confirmation of preclinical familial antithrombin deficiency using polymorphism and specific oligonucleotide...

Familial deficiency of antithrombin causes venous thromboembolism which may not become clinically apparent until the third or fourth decade of life. In affected families conventional tests of antithrombin activity and antithrombin antigen levels may not be sufficiently accurate to discriminate with certainty between those young people who have inherited the abnormal gene and those who have not. Molecular probes for polymorphisms linked to the gene of interest may be informative but in some families are not. We have used the knowledge of the precise molecular defect in antithrombin Glasgow to design and manufacture DNA probes and have used these probes to detect the presence of the abnormal gene in DNA from clinically unaffected family members and thus confirm their inheritance of antithrombin deficiency and their predisposition to venous thromboembolic disease.