title: A novel antithrombin gene mutation: slippage and mispairing as a mechanism of genetic disease.
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.
authors.affiliation: Department of Pathology, University of Otago, Dunedin, New Zealand.
authors.forename: A C
authors.initials: AC
authors.lastname: Fitches
authors.forename: S J
authors.initials: SJ
authors.lastname: May
authors.forename: R J
authors.initials: RJ
authors.lastname: Olds
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000990:Antithrombin III / Q000235:genetics*; D020152:Antithrombin III Deficiency; D001483:Base Sequence; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion
chemical_list: D000990:Antithrombin III