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

Ryutaro Kira, Kenji Ihara, Hidetoshi Takada, Kenjiro Gondo, Toshiro Hara

研究成果: ジャーナルへの寄稿学術誌査読

23 被引用数 (Scopus)

抄録

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.

本文言語英語
ページ(範囲)605-610
ページ数6
ジャーナルHuman Genetics
102
6
DOI
出版ステータス出版済み - 1998

!!!All Science Journal Classification (ASJC) codes

  • 遺伝学
  • 遺伝学(臨床)

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