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

doi:10.1016/j.ymgme.2003.12.004

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

11 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
巻	81
号	4
DOI	https://doi.org/10.1016/j.ymgme.2003.12.004
出版ステータス	Published - 2004 4月

ASJC Scopus subject areas

内分泌学、糖尿病および代謝内科学
生化学
分子生物学
遺伝学
内分泌学

UN SDG

この成果は、次の持続可能な開発目標に貢献しています

文献へのアクセス

10.1016/j.ymgme.2003.12.004

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引用スタイル

Kojima, K., Kure, S., Kamada, F., Hao, K., Ichinohe, A., Sato, K., Aoki, Y., Yoichi, S., Kubota, M., Horikawa, R., Utsumi, A., Miura, M., Ogawa, S., Kanazawa, M., Kohno, Y., Inokuchi, M., Hasegawa, T., Narisawa, K., & Matsubara, Y. (2004). Genetic testing of glycogen storage disease type Ib in Japan: Five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R. Molecular Genetics and Metabolism, 81(4), 343-346. https://doi.org/10.1016/j.ymgme.2003.12.004

Kojima, K, Kure, S, Kamada, F, Hao, K, Ichinohe, A, Sato, K, Aoki, Y, Yoichi, S, Kubota, M, Horikawa, R, Utsumi, A, Miura, M, Ogawa, S, Kanazawa, M, Kohno, Y, Inokuchi, M , Hasegawa, T, Narisawa, K & Matsubara, Y 2004, 'Genetic testing of glycogen storage disease type Ib in Japan: Five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R', Molecular Genetics and Metabolism, vol. 81, no. 4, pp. 343-346. https://doi.org/10.1016/j.ymgme.2003.12.004

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

abstract = "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.",

keywords = "Glucose-6-phosphatase, Glucose-6-phosphate transporter, Glycogen storage disease type Ib, Japanese patients, Mutation, Mutation detection, TaqMan-allele-specific amplification",

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

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doi = "10.1016/j.ymgme.2003.12.004",

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AU - Kojima, Kanako

AU - Kure, Shigeo

AU - Kamada, Fumiaki

AU - Hao, Kiyotaka

AU - Ichinohe, Akiko

AU - Sato, Kenichi

AU - Aoki, Yoko

AU - Yoichi, Suzuki

AU - Kubota, Mitsuru

AU - Horikawa, Reiko

AU - Utsumi, Akiko

AU - Miura, Masayoshi

AU - Ogawa, Shinji

AU - Kanazawa, Masaki

AU - Kohno, Yoichi

AU - Inokuchi, Mikako

AU - Hasegawa, Tomonobu

AU - Narisawa, Kuniaki

AU - Matsubara, Yoichi

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KW - Glucose-6-phosphatase

KW - Glucose-6-phosphate transporter

KW - Glycogen storage disease type Ib

KW - Japanese patients

KW - Mutation

KW - Mutation detection

KW - TaqMan-allele-specific amplification

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