Mutations in coagulation factor XIII A gene in three Turkish patients: two novel mutations and a known insertion.
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 MboII. 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.
Birben
Esra
E
Department of Molecular Biology and Biotechnology, Faculty of Science, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
Oner
Reyhan
R
Oner
Cihan
C
Gümrük
Fatma
F
Altay
Ciğdem
C
Gürgey
Aytemiz
A
D002648:Child; D002675:Child, Preschool; D005176:Factor XIII / Q000235:genetics*; D005177:Factor XIII Deficiency / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006720:Homozygote; D006801:Humans; D007223:Infant; D009154:Mutation; D020125:Mutation, Missense; D017422:Sequence Analysis, DNA; D014421:Turkey
C064015:factor XIII subunit A; D005176:Factor XIII