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Molecular genetics of human antithrombin deficiency
Author(s) -
Perry David J.,
Carrell Robin W.
Publication year - 1996
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1996)7:1<7::aid-humu2>3.0.co;2-b
Subject(s) - biology , antithrombin , genetics , gene , exon , mutation , population , antithrombin iii deficiency , intron , bioinformatics , heparin , biochemistry , medicine , environmental health
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. © 1996 Wiley‐Liss, Inc.