A novel nonsense mutation at Glu-631 in a Spanish family with complement component 7 deficiency

Takahiko Horiuchi, Joana M. Ferrer, Pau Serra, Nüria Matamoros, Margarita Löpez-Trascasa, Chinami Hashimura, Yoshiyuki Niho

研究成果: Contribution to journalArticle査読

11 被引用数 (Scopus)

抄録

Deficiency of the seventh component of complement (C7D) is frequently associated with recurrent neisserial infections. We report in the present study the genetic basis for C7D in a Spanish family. We used exon-specific polymerase chain reaction (PCR)/single-strand conformation polymorphism (SSCP) analysis as a screening step for mutations, followed by direct sequencing of the target exon. The mutation in the proband was a homozygous G-to-T transversion at nucleotide 1957, the first nucleotide of the codon GAG for Glu-631, leading to a stop codon TAG (E631X). Our result provides further evidence that the molecular pathogenesis of C7D is heterogeneous.

本文言語英語
ページ(範囲)215-218
ページ数4
ジャーナルJournal of Human Genetics
44
3
DOI
出版ステータス出版済み - 1999

All Science Journal Classification (ASJC) codes

  • 遺伝学
  • 遺伝学(臨床)

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