Antithrombin cambridge II (Ala384Ser): clinical, functional and haplotype analysis of 18 families

Perry, D.J., Daly, M.E., Tait, R.C. , Walker, I.D., Brown, K., Beauchamp, N.J., Preston, F.E., Gyde, H., Harper, P.L. and Carrell, R.W. (1998) Antithrombin cambridge II (Ala384Ser): clinical, functional and haplotype analysis of 18 families. Thrombosis and Haemostasis, 79(2), pp. 239-253. (doi: 10.1055/s-0037-1614973) (PMID:9493570)

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Abstract

Thirty-one individuals from 18 unrelated families with antithrombin deficiency have been identified as having a single point mutation within codon 384 (13268 GCA→TCA) resulting in an alanine to serine substitution. Six families (11 individuals) were identified by the screening of individuals with thromboembolic disease or with a family history of thromboembolic disease, whilst the remaining 12 families (20 individuals) were identified by screening of asymptomatic blood donors. Four individuals had a history of venous thrombotic disease, a further 2 gave a history of superficial thrombophlebitis but the remaining 25 individuals were asymptomatic. Affected individuals demonstrated normal immunological levels of antithrombin but a decrease in anti-IIa activity in the presence of heparin. Haplotype analysis was used to examine the possibility of a founder effect to explain the high frequency of this non-CpG mutation. 29/31 individuals showed a single common “core” haplotype, the only variation existing in the number of copies of an (ATT)n repeat polymorphism – 13, 14, 15 or 17. The results suggest that at most there are four independent origins for this mutation.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Tait, Dr Robert and Walker, Prof Isobel
Authors: Perry, D.J., Daly, M.E., Tait, R.C., Walker, I.D., Brown, K., Beauchamp, N.J., Preston, F.E., Gyde, H., Harper, P.L., and Carrell, R.W.
College/School:College of Medical Veterinary and Life Sciences > School of Cardiovascular & Metabolic Health
College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
Journal Name:Thrombosis and Haemostasis
Publisher:Georg Thieme
ISSN:0340-6245
ISSN (Online):2567-689X

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