Mutations in coagulation factor XIII A gene in three Turkish patients: two novel mutations and a known insertion


Birben E. , ÖNER R., ÖNER C., Gumruk F. , ALTAY Ç., Gurgey A.

BRITISH JOURNAL OF HAEMATOLOGY, cilt.118, sa.1, ss.278-281, 2002 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 118 Konu: 1
  • Basım Tarihi: 2002
  • Doi Numarası: 10.1046/j.1365-2141.2002.03571.x
  • Dergi Adı: BRITISH JOURNAL OF HAEMATOLOGY
  • Sayfa Sayıları: ss.278-281

Özet

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.