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

被引：8

作者：

Kojima, K

Kure, S ^{[1
]}

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

机构：

[1] Tohoku Univ, Sch Med, Dept Med Genet, Sendai, Miyagi 980, Japan

[2] Hokkaido Univ, Sch Med, Dept Pediat, Sapporo, Hokkaido 060, Japan

[3] Natl Ctr Hlth & Dev, Tokyo, Japan

[4] Red Cross Hosp Matsuyama, Dept Pediat, Matsuyama, Ehime, Japan

[5] Toyama City Hosp, Toyama, Japan

[6] Chiba Univ, Grad Sch Med, Dept Pediat, Chiba, Japan

[7] Keio Univ, Sch Med, Dept Pediat, Tokyo, Japan

来源：

MOLECULAR GENETICS AND METABOLISM | 2004年 / 81卷 / 04期

关键词：

glycogen storage disease type Ib; glucose-6-phosphate transporter; glucose-6-phosphatase; mutation; Japanese patients; mutation detection; TaqMan-allele-specific amplification;

D O I：

10.1016/j.ymgme.2003.12.004

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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. (C) 2004 Elsevier Inc. All rights reserved.

引用

页码：343 / 346

页数：4

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