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Two antithrombin mutations in a compound heterozygote: Met20Thr and Tyr166Cys
Author(s) -
Perry D. J.,
Daly M. E.,
Colvin B. T.,
Brown K.,
Carrell R. W.
Publication year - 1995
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830500310
Subject(s) - exon , heterozygote advantage , mutation , compound heterozygosity , antithrombin , genetics , phenotype , biology , microbiology and biotechnology , gene , allele , biochemistry , heparin
The molecular basis for a family with Type I antithrombin deficiency has been established. Amplification and sequencing of the antithrombin gene identified two mutations: Met20Thr (2523T°C) within exon 2 and Tyr166Cys (5493A→G) within exon 3a. Further analysis indicated that the propositus was a compound heterozygote but in addition provided evidence for phase disruption during the amplification and/or cloning procedure. The Met20Thr mutation appears to be a neutral mutation with no functional consequences. In contrast, the Tyr166Cys mutation is associated with a Type I phenotype.
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