Novel mutations in the myocilin gene in Japanese glaucoma patients.

R. Kubota, Y. Mashima, Y. Ohtake, T. Tanino, T. Kimura, Y. Hotta, A. Kanai, S. Tokuoka, I. Azuma, H. Tanihara, M. Inatani, Y. Inoue, J. Kudoh, Y. Oguchi, N. Shimizu

研究成果: Article査読

24 被引用数 (Scopus)

抄録

Myocilin is a gene responsible for juvenile onset primary open angle glaucoma (POAG) mapped as the GLC1A locus and, many mutations have been reported worldwide. Some mutations were found not only in patients with juvenile onset POAG, but also in patients with late onset POAG and in patients with normal tension glaucoma. To investigate the mutation prevalence in Japan, we performed a mutation analysis in 140 unrelated Japanese patients. We have identified the 10 sequence variants, of which four were highly probable for disease-causing mutations (Arg46ter, Arg158Gln, Ile360Asn, and Ala363Thr), and six polymorphisms (Gln19His, Arg76Lys, Asp208Glu, Val439Val, Arg470His, and Ala488Ala). Thus, myocilin mutations were found at the rate of 4/140 (2.9%) probands, similar to previous reports with other ethnic populations.

本文言語English
ページ(範囲)270
ページ数1
ジャーナルHuman mutation
16
3
DOI
出版ステータスPublished - 2000 9月
外部発表はい

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

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