Download PDF
Thromb Haemost 1998; 80(02): 211-213
DOI: 10.1055/s-0037-1615173
Rapid Communication
Schattauer GmbH

A Founder Effect Is Proposed for Factor XIII B Subunit Deficiency Caused by the Insertion of Triplet AAC in Exon III Encoding the Second Sushi Domain

Masayoshi Souri
1   Department of Molecular Pathological Biology and Biochemistry, Yamagata University School of Medicine, Yamagata, Japan
,
Tomonori Izumi
1   Department of Molecular Pathological Biology and Biochemistry, Yamagata University School of Medicine, Yamagata, Japan
,
Yoichiro Higashi
1   Department of Molecular Pathological Biology and Biochemistry, Yamagata University School of Medicine, Yamagata, Japan
,
Antonio Girolami   *
,
Akitada Ichinose
1   Department of Molecular Pathological Biology and Biochemistry, Yamagata University School of Medicine, Yamagata, Japan
› Author Affiliations
Further Information

Publication History

Received 20 January 1998

Accepted after revision 21 April 1998

Publication Date:
08 December 2017 (online)

    Permissions and Reprints

Summary

We previously concluded that genetic defects in the B subunit of factor XIII were the basis for former Type I deficiency (i.e. factor XIII B subunit deficiency). When we examined an Italian patient with the disease at the DNA level, restriction digestion and sequencing analyses of amplified DNAs revealed that the proband and her family members possessed an AAC insertion within the codon for Tyr-80 in exon III in the gene for the B subunit, a nucleotide polymorphism (A-G) in its 3’-noncoding region in exon XII, and a short tandem repeat polymorphism of (TTTA)9 in the 3’-flanking region. These mutations and 3’-polymorphisms were also identified in another Italian family reported in a previous study (10), suggesting that a founder effect is responsible for factor XIII B subunit deficiency in Italians.

* Institute of Medical Semiotics, University of Padua Medical School, Padua, Italy


 

  • References

  • 1 Ichinose A. Physiology and biochemistry of factor XIII.. In: Haemostasis and Thrombosis.. Bloom AL, Forbes CD, Thomas DP, Tuddenham EGD. eds. Churchill Livingstone; Edinburgh, United Kingdom: 1995. pp 531-46.
    Google Scholar
  • 2 Ichinose A, Bottenus RE, Davie EW. Structure of transglutaminases.. J Biol Chem 1990; 265: 13411-4.
    PubMedGoogle Scholar
  • 3 Girolami A, Burul A, Fabris F, Cappellato G, Betterle C. Studies on factor XIII antigen in congenital factor XIII deficiency. A tentative classification of the disease in two groups.. Folia Haematol 1978; 105: 131-41.
    PubMedGoogle Scholar
  • 4 Ichinose A, McMullen BA, Fujikawa K, Davie EW. Amino acid sequence of the B subunit of human factor XIII, a protein composed of ten repetitive segments.. Biochem 1986; 25: 4633-8.
    CrossrefPubMedGoogle Scholar
  • 5 Bottenus RE, Ichinose A, Davie EW. Nucleotide sequence of the gene for the B subunit of human factor XIII.. Biochem 1990; 29: 11195-209.
    CrossrefPubMedGoogle Scholar
  • 6 Ichinose A, Kaetsu H. Molecular approach to the structure-function relationship of human coagulation factor XIII.. Method Enzymol 1993; 222: 36-51.
    PubMedGoogle Scholar
  • 7 Saito M, Asakura H, Yoshida T, Ito K, Okafuji K, Yoshida T, Matsuda T. A familial factor XIII subunit B deficiency.. Brit J Haematol 1990; 74: 290-4.
    CrossrefPubMedGoogle Scholar
  • 8 Hashiguchi T, Saito M, Morishita E, Matsuda T, Ichinose A. Two genetic defects in a patient with complete deficiency of the B subunit for factor XIII.. Blood 1993; 82: 145-50.
    PubMedGoogle Scholar
  • 9 Hashiguchi T, Ichinose A. Molecular and cellular basis of deficiency of the B subunit for factor XIII secondary to a Cys430-Phe mutation in the seventh Sushi domain.. J Clin Invest 1995; 95: 1002-8.
    CrossrefPubMedGoogle Scholar
  • 10 Izumi T, Hashiguchi T, Castaman G, Tosetto A, Rodeghiero F, Girolami A, Ichinose A. Type I factor XIII deficiency is caused by a genetic defect of its B subunit: Insertion of triplet AAC in exon III leads to premature termination in the second Sushi domain.. Blood 1996; 87: 2769-74.
    PubMedGoogle Scholar
  • 11 Ichinose A, Izumi T, Hashiguchi T. The normal and abnormal genes of the A and B subunit in coagulation factor XIII.. Semin Thromb Haemost 1996; 22: 385-91.
    Article in Thieme ConnectPubMedGoogle Scholar
  • 12 Cappellato MG, Lazzaro AR, Marafioti F, Polato G, Girolami A. A new family with congenital factor XIII deficiency showing a deficit of both subunit A and B. Type I factor XIII deficiency.. Haematol 1987; 20: 179-87.
    PubMedGoogle Scholar
  • 13 Nishimura DY, Murray JC. A tetranucleotide repeat for the F13B locus.. Nuc Acid Res 1992; 20: 1167.
    PubMedGoogle Scholar