Human Genetics

, Volume 98, Issue 4, pp 393–395

Novel polymorphisms and haplotypes in the human coagulation factor XIII A-subunit gene

  • K. Suzuki
  • Jürgen Henke
  • Misa Iwata
  • Lotte Henke
  • Hiroko Tsuji
  • Tatsushige Fukunaga
  • Goichi Ishimoto
  • Maria Szekelyi
  • Shigenori Ito
Original investigation

DOI: 10.1007/s004390050227

Cite this article as:
Suzuki, K., Henke, J., Iwata, M. et al. Hum Genet (1996) 98: 393. doi:10.1007/s004390050227

Abstract

Novel polymorphic sites within the coding region of the human coagulation factor XIII A-subunit (F13A) gene and their haplotypic combinations with the other polymorphic sites thus far reported are presented. Polymorphic bands were detected in exons 2, 5, 8, 12 and 14 by using single strand conformational polymorphism analysis and antithetic forms of the polymorphic exons were linked with each other, cosegregating as distinct sequence haplotypes. In Finnish, German, and Russian populations a total of 18 haplotypes were observed of possible 72 haplotypic combinations of the 5 exons. Ten of the haplotypes detected were found to have no novel mutations but to be only combinations of preexisting mutations. No tightly associated combinations in pairwise comparisons between antithetic forms of the polymorphic exons were observed, indicating that there may be recombinational hotspots within the F13A gene region.

Copyright information

© Springer-Verlag Berlin Heidelberg 1996

Authors and Affiliations

  • K. Suzuki
    • 1
  • Jürgen Henke
    • 2
  • Misa Iwata
    • 1
  • Lotte Henke
    • 2
  • Hiroko Tsuji
    • 1
  • Tatsushige Fukunaga
    • 3
  • Goichi Ishimoto
    • 3
  • Maria Szekelyi
    • 2
  • Shigenori Ito
    • 1
  1. 1.Department of Legal Medicine, Osaka Medical College, 2–7, Daigakumachi, Takatuski, Osaka, 569, Japan Tel.: +81-716-84-6415; Fax: +81-726-84-6515JP
  2. 2.Institut für Blutgruppenforschung, Cologne, GermanyDE
  3. 3.Department of Legal Medicine, Mie University School of Medicine, Tsu, JapanJP