Genetic testing of glycogen storage disease type Ib in Japan: Five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R

Kanako Kojima, Shigeo Kure, Fumiaki Kamada, Kiyotaka Hao, Akiko Ichinohe, Kenichi Sato, Yoko Aoki, Suzuki Yoichi, Mitsuru Kubota, Reiko Horikawa, Akiko Utsumi, Masayoshi Miura, Shinji Ogawa, Masaki Kanazawa, Yoichi Kohno, Mikako Inokuchi, Tomonobu Hasegawa, Kuniaki Narisawa, Yoichi Matsubara

研究成果: Article査読

9 被引用数 (Scopus)

抄録

We devised a simple method using a TaqMan fluorogenic probe for detection of a prevalent G6PT1 mutation W118R among Japanese patients with glycogen storage disease type Ib. The W118R mutation was detected in three of six newly diagnosed Japanese patients. The W118R-negative alleles were screened for causative mutations by sequencing analysis, revealing five novel mutations. The genetic tests using the simple TaqMan method coupled with sequencing analysis would facilitate the early diagnosis of this disorder.

本文言語English
ページ(範囲)343-346
ページ数4
ジャーナルMolecular Genetics and Metabolism
81
4
DOI
出版ステータスPublished - 2004 4

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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