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Published on: June 15, 2011
A novel antithrombin gene mutation: slippage and mispairing as a mechanism of genetic disease
A C Fitches1, S J May, R J Olds
1Department of Pathology, University of Otago, Dunedin, New Zealand.
Abstract:
There is a high degree of genetic heterogeneity underlying antithrombin deficiency indicating that a number of genetic mechanisms are responsible for the disorder. We report the identification of a five nucleotide (CAGAA) deletion in exon 2 of the antithrombin gene that results in a shift in the frame of translation of the mRNA and introduces a premature STOP signal in codon 70. The deleted nucleotides represent one repeat of a duplicated sequence within codons 36-39. The deletion may have arisen by slippage and mispairing of the repeated sequences at the replication fork during DNA synthesis.
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