HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Citation Map Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Permissions Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Horiuchi, T. Articles by Fukumori, Y. Search for Related Content PubMed PubMed Citation Articles by Horiuchi, T. Articles by Fukumori, Y. Pubmed/NCBI databases Gene GEO Profiles HomoloGene OMIM UniGene Compound via MeSH Substance via MeSH Hazardous Substances DB (L)-ARGININE

A Non-Sense Mutation at Arg⁹⁵ Is Predominant in Complement 9 Deficiency in Japanese¹

Takahiko Horiuchi^2,*, Hiroaki Nishizaka^*, Takeshi Kojima^*, Takuya Sawabe^*, Yoshiyuki Niho^*, Peter M. Schneider, Shoichi Inaba, Kouko Sakai^¶, Kenshi Hayashi^§, Chinami Hashimura^* and Yasuo Fukumori^||

^* First Department of Internal Medicine and Department of Blood Transfusion, Faculty of Medicine, Kyushu University, Fukuoka, Japan; Institute of Legal Medicine, Johannes Gutenberg University, Mainz, Germany; ^§ Institute of Genetic Information, Kyushu University, Fukuoka, Japan; ^¶ Department of Internal Medicine, Refractory Diseases Center, National Hospital Medical Center in Kyushu, Fukuoka, Japan; and ^|| Department of Research, Osaka Red Cross Blood Center, Osaka, Japan

Deficiency of the ninth component of complement (C9D) is one of the most common genetic abnormalities in Japan, with an incidence of one homozygote in 1000. Although C9D individuals are usually healthy, it has been shown that they have an significantly increased risk of developing meningococcal meningitis. In the present study we report the molecular bases for C9D in 10 unrelated Japanese subjects. As a screening step for mutations, exons 2 to 11 of the C9 gene were analyzed using exon-specific PCR/single-strand conformation polymorphism analysis, which demonstrated aberrantly migrating DNA bands in exon 4 in all the C9D subjects. Subsequent direct sequencing of exon 4 of the C9D subjects revealed that eight of the 10 C9D subjects were homozygous for a C to T transition at nucleotide 343, the first nucleotide of the codon CGA for Arg⁹⁵, leading to a TGA stop codon (R95X). R95X is a novel mutation different from those recently identified in a Swiss family with C9D. Cases 6 and 7 were heterozygous for the R95X mutation. Family study in case 10 confirmed the genetic nature of the defect. In case 6, the second mutation for C9D of the C9 gene was identified to be the substitution of Cys to Tyr at amino acid residue 507 (C507Y), while the genetic defect(s) in the other allele in case 7 remains unknown. Our results indicate that a novel mutation, R95X, is present in most cases of C9D in Japan.

This article has been cited by other articles:

				S.-i. Harashima, T. Horiuchi, N. Hatta, C. Morita, M. Higuchi, T. Sawabe, H. Tsukamoto, T. Tahira, K. Hayashi, S. Fujita, et al. Outside-to-Inside Signal Through the Membrane TNF-{{alpha}} Induces E-Selectin (CD62E) Expression on Activated Human CD4+ T Cells J. Immunol., January 1, 2001; 166(1): 130 - 136. [Abstract] [Full Text] [PDF]

				S Kanemitsu, K Ihara, R Kira, Y Kaku, K Sakai, K Tsuzaka, T Takeuchi, and T Hara Complement component 9 deficiency is not a susceptibility factor for SLE Lupus, July 1, 2000; 9(6): 456 - 457. [Abstract] [PDF]

				T. Kojima, T. Horiuchi, H. Nishizaka, Y. Fukumori, T. Amano, K. Nagasawa, Y. Niho, and K. Hayashi Genetic Basis of Human Complement C8{alpha}-{gamma} Deficiency J. Immunol., October 1, 1998; 161(7): 3762 - 3766. [Abstract] [Full Text] [PDF]