title: Evidence linking familial thrombosis with a defective antithrombin III gene in two British kindreds.
abstract: Using DNA probes in a structural study of the antithrombin III gene locus we found no evidence of gene deletion in two British kindreds with inherited antithrombin III deficiency. However, linkage analysis between a common DNA polymorphism and the antithrombin III deficiency trait showed that the defect lies at or close to the antithrombin III structural gene. The lod score for linkage within the larger Scottish kindred was 3.1 (theta = 0). These results are consistent with previously published data suggesting that mutation of the antithrombin III structural gene is the cause of inherited antithrombin III deficiency in some families.
authors.affiliation: Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Headington, Oxford.
authors.forename: S H
authors.initials: SH
authors.lastname: Sacks
authors.forename: J M
authors.initials: JM
authors.lastname: Old
authors.forename: S T
authors.initials: ST
authors.lastname: Reeders
authors.forename: D J
authors.initials: DJ
authors.lastname: Weatherall
authors.forename: A S
authors.initials: AS
authors.lastname: Douglas
authors.forename: J H
authors.initials: JH
authors.lastname: Winter
authors.forename: C R
authors.initials: CR
authors.lastname: Rizza
mesh_terms: D000990:Antithrombin III / Q000235:genetics*; D020152:Antithrombin III Deficiency; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007120:Immunochemistry; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D011110:Polymorphism, Genetic; D013927:Thrombosis / Q000235:genetics*; D006113:United Kingdom
chemical_list: D005819:Genetic Markers; D000990:Antithrombin III