Original investigation

Human Genetics

, Volume 102, Issue 6, pp 605-610

First online:

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

  • R. KiraAffiliated withDepartment 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 5434
  • , Kenji IharaAffiliated withDepartment 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 5434
  • , Hidetoshi TakadaAffiliated withDepartment 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 5434
  • , Kenjiro GondoAffiliated withDepartment 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 5434
  • , Toshiro HaraAffiliated withDepartment 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 5434

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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.