Prothrombin "Mexico City," an asymptomatic autosomal dominant prothrombin variant.
A functionally normal but structurally abnormal prothrombin variant was found in a Mexican family. Immunoisoelectricfocusing studies revealed that this variant has a more acidic isoelectric point (4.01) than normal prothrombin (4.29), but it proved to have a normal molecular weight as assessed by sodium-dodecyl-sulphate polyacrylamide gel electrophoresis. Two-dimensional immunoelectrophoresis studies showed an abnormal cleavage of the prothrombin molecule by factor Xa and Echis carinatus venom as well, despite the fact that both yield functionally normal thrombin molecules. Finally, the ability of the molecule to bind calcium ions as well as its overall antigenic structure were investigated and found to be normal. These results taken together suggest a simple (substitution or translocation) mutation at the fragment 2 level. Since this prothrombin variant is different from others described previously, the name "Mexico City" is proposed to identify it.
D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005799:Genes, Dominant; D014644:Genetic Variation; D006801:Humans; D007123:Immunoelectrophoresis, Two-Dimensional; D008297:Male; D008800:Mexico; D010375:Pedigree; D011487:Protein Conformation; D011516:Prothrombin / Q000032:analysis / Q000235:genetics*
D011516:Prothrombin