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Human antithrombin III (AT-III) is the major inhibitor of blood coagulation and hereditary deficiency of this glycoprotein is a well known risk factor for familial venous thromboembolic disease. In order to identify the genetic defect in Japanese patient with type Ia AT-III deficiency, we have analyzed seven exons of the AT-III gene using polymerase chain reaction (PCR) and direct sequencing techniques. Comparing the nucleotide sequence found in the patient with the nucleotide sequence of the AT-III gene which was reported by Olds et al (Biochemistry 1993), three differences in the sequence, at position 67 (5′ untranslated region), 2745 (exon2), and 7626 (exon4), were detected. The substitution from G to A was observed at position 7626 in exon 4. This nucleotide substitution is silent and has been previously reported as a polymorphism. The frequency of this polymorphism in the analysis of 100 alleles from 50 Japanese normal individuals was 0.46(G)/0.54(A). Neither of the substitutions, G to A at position 67 in the 5′ untranslated region or C to T at position 2745 in exon 2, was found in the 100 normal alleles. Although the C to T substitution at position 2745 was detected in all 5 patients who were diagnosed as AT-III deficiency by the coagulation test, the G to A substitution at position 67 was detected in only 3 out of 5 patients. These findings suggest that the C to T transition, substituting alanine 94 for valine, may cause AT-III deficiency in this family. Furthermore, the G to A transition at position 67 is probably a low frequency polymorphism.

Identification of a Novel Point Mutation (Ala94 to Val) in a Hereditary Type I Antithrombin III Deficiency