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

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.

journal_name

Thromb Haemost

authors

Perry DJ,Daly ME,Tait RC,Walker ID,Brown K,Beauchamp NJ,Preston FE,Gyde H,Harper PL,Carrell RW

subject

Has Abstract

pub_date

1998-02-01 00:00:00

pages

249-53

issue

2

eissn

0340-6245

issn

2567-689X

pii

98020249

journal_volume

79

pub_type

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