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Mutations in coagulation factor XIII A gene in three Turkish patients: two novel mutations and a known insertion
Author(s) -
Birben Esra,
Öner Reyhan,
Öner Cihan,
Gümrük Fatma,
Altay Çiğdem,
Gürgey Aytemiz
Publication year - 2002
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2002.03571.x
Subject(s) - genetics , exon , mutation , gene , biology , stop codon , microbiology and biotechnology , factor xiii , nonsense mutation , eukaryotic translation , translation (biology) , missense mutation , biochemistry , messenger rna , fibrinogen
Summary. Molecular analysis of factor XIII A gene on three unrelated Turkish families identified two novel and one known mutations. One novel mutation is a substitution of cytidine by guanine at codon 541 in exon 12, β barrel 1 domain of the coagulation factor XIII A subunit gene resulting in the conversion of asparagine to lysine. The mutation alters the restriction site of the enzyme Mbo II. The second novel mutation, a 4 bp (–CAAA) deletion located in a direct repetitive sequence (CAAACAAA) between codons 466–469, results in premature termination of translation at codon 474. The third mutation is a previously reported single nucleotide (cytidine) insertion at codon 400 in exon 9 of the factor XIII gene.