Human Genetics

, Volume 102, Issue 6, pp 605–610

Nonsense mutation in exon 4 of human complement C9 gene is the major cause of Japanese complement C9 deficiency

  • R. Kira
  • Kenji Ihara
  • Hidetoshi Takada
  • Kenjiro Gondo
  • Toshiro Hara
Original investigation

DOI: 10.1007/s004390050749

Cite this article as:
Kira, R., Ihara, K., Takada, H. et al. Hum Genet (1998) 102: 605. doi:10.1007/s004390050749

Abstract

Deficiency of the ninth component of human complement (C9) is the most common complement deficiency in Japan but is rare in other countries. We studied the molecular basis of C9 deficiency in four Japanese C9-deficient patients who had suffered from meningococcal meningitis. Direct sequencing of amplified C9 cDNA and DNA revealed a nonsense substitution (CGA→TGA) at codon 95 in exon 4 in the four C9-deficient individuals. An allele-specific polymerase chain reaction system designed to detect exclusively only one of the normal and mutant alleles indicated that all the four patients were homozygous for the mutation in exon 4 and that the parents of patient 2 were heterozygous. The common mutation at codon 95 in exon 4 might be responsible for most Japanese C9 deficiency.

Copyright information

© Springer-Verlag Berlin Heidelberg 1998

Authors and Affiliations

  • R. Kira
    • 1
  • Kenji Ihara
    • 1
  • Hidetoshi Takada
    • 1
  • Kenjiro Gondo
    • 1
  • Toshiro Hara
    • 1
  1. 1.Department of Pediatrics, Faculty of Medicine, Kyushu University, 3-1-1, Maidashi, Higashi-ku, Fukuoka 812-8582, Japan e-mail: kirari@mailserver.med.kyushu-u.ac.jp, Tel.: +81 92 642 5421, Fax: +81 92 642 5434Japan