Evidence linking familial thrombosis with a defective antithrombin III gene in two British kindreds.
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.
Sacks
S H
SH
Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Headington, Oxford.
Old
J M
JM
Reeders
S T
ST
Weatherall
D J
DJ
Douglas
A S
AS
Winter
J H
JH
Rizza
C R
CR
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
D005819:Genetic Markers; D000990:Antithrombin III