PubMed · 6962626
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U Abildgaard. 1982. Methodological considerations on antithrombin determination.. https://pubmed.ncbi.nlm.nih.gov/6962626/
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The article is devoted to the coagulation proteinases inhibitor antithrombin III which plays an important role in the processes of blood coagulation. The molecular and gene structure, physiology and pathophysiology, assays and therapeutical meanings are dealt with.
Using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing, the molecular basis of hereditary type Ia antithrombin III (AT III) deficiency was disclosed in two families. One mutation was a change from T to A in the codon of TTA for Leu 140 forming a stop codon of TAA, which was confirmed by mutated primer-mediated PCR-HindIII digestion. The application of this method demonstrated that all four affected members had the mutant allele in a heterozygous state and that none of unaffected subjects had this mutation. Another mutation in the second family was a change from C to T in the codon of CGA for Arg 197 also forming a stop codon of TGA, which was confirmed by PCR-HaeIII digestion. Based on these, it was concluded that the two new nonsense mutations in the AT III gene in a heterozygous state are the molecular basis of hereditary type Ia AT III deficiency.