title: Molecular genetics of human antithrombin deficiency.
abstract: Human antithrombin is the major plasma inhibitor of thrombin both in the presence and absence of heparin. Its physiological importance is emphasised by the recurrent thromboses that individuals with a deficient or functionally abnormal protein are prone to develop. Such deficiencies are estimated to affect as many as 1:630 of the general population and between 3% and 5% of patients with thrombotic disease. The gene for antithrombin (AT3) has been cloned and shown to map to the long arm of chromosome 1 at 1q23-25. The gene consists of seven exons and six introns and spans 13,477bp of DNA. Advances in molecular genetic techniques have facilitated identification of the underlying DNA mutation(s) in > 80 families with antithrombin deficiency. Such work has proved invaluable in structure-function studies and in helping to provide informed genetic counselling to "at-risk" individuals based upon the natural history of similar variants.
authors.affiliation: Department of Haematology, University of Cambridge, United Kingdom.
authors.forename: D J
authors.initials: DJ
authors.lastname: Perry
authors.forename: R W
authors.initials: RW
authors.lastname: Carrell
mesh_terms: D000991:Antithrombins / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics; D001483:Base Sequence; D014644:Genetic Variation; D006801:Humans; D008958:Models, Molecular; D008969:Molecular Sequence Data; D015394:Molecular Structure; D009154:Mutation; D011110:Polymorphism, Genetic; D013923:Thromboembolism / Q000235:genetics*
chemical_list: D000991:Antithrombins