Mutations in coagulation factor XIII A gene in three Turkish patients: two novel mutations and a known insertion
BRITISH JOURNAL OF HAEMATOLOGY, vol.118, no.1, pp.278-281, 2002 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 118 Issue: 1
- Publication Date: 2002
- Doi Number: 10.1046/j.1365-2141.2002.03571.x
- Journal Name: BRITISH JOURNAL OF HAEMATOLOGY
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.278-281
- Hacettepe University Affiliated: Yes
Abstract
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, beta 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.