Kojima Kanako, Kure Shigeo, Kamada Fumiaki, Hao Kiyotaka, Ichinohe Akiko, Sato Kenichi, Aoki Yoko, Yoichi Suzuki, Kubota Mitsuru, Horikawa Reiko, Utsumi Akiko, Miura Masayoshi, Ogawa Shinji, Kanazawa Masaki, Kohno Yoichi, Inokuchi Mikako, Hasegawa Tomonobu, Narisawa Kuniaki, Matsubara Yoichi
Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan.
Mol Genet Metab. 2004 Apr;81(4):343-6. doi: 10.1016/j.ymgme.2003.12.004.
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.
我们设计了一种简单的方法，使用TaqMan荧光探针来检测日本糖原贮积病Ib型患者中普遍存在的G6PT1突变W118R。在6例新诊断的日本患者中，有3例检测到W118R突变。通过测序分析对W118R阴性等位基因进行致病突变筛查，发现了5种新突变。使用简单的TaqMan方法结合测序分析进行基因检测将有助于这种疾病的早期诊断。
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