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.
authors.affiliation: Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan.
authors.forename: Kanako
authors.initials: K
authors.lastname: Kojima
authors.forename: Shigeo
authors.initials: S
authors.lastname: Kure
authors.forename: Fumiaki
authors.initials: F
authors.lastname: Kamada
authors.forename: Kiyotaka
authors.initials: K
authors.lastname: Hao
authors.forename: Akiko
authors.initials: A
authors.lastname: Ichinohe
authors.forename: Kenichi
authors.initials: K
authors.lastname: Sato
authors.forename: Yoko
authors.initials: Y
authors.lastname: Aoki
authors.forename: Suzuki
authors.initials: S
authors.lastname: Yoichi
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Kubota
authors.forename: Reiko
authors.initials: R
authors.lastname: Horikawa
authors.forename: Akiko
authors.initials: A
authors.lastname: Utsumi
authors.forename: Masayoshi
authors.initials: M
authors.lastname: Miura
authors.forename: Shinji
authors.initials: S
authors.lastname: Ogawa
authors.forename: Masaki
authors.initials: M
authors.lastname: Kanazawa
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Kohno
authors.forename: Mikako
authors.initials: M
authors.lastname: Inokuchi
authors.forename: Tomonobu
authors.initials: T
authors.lastname: Hasegawa
authors.forename: Kuniaki
authors.initials: K
authors.lastname: Narisawa
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Matsubara
mesh_terms: D000328:Adult; D000483:Alleles; D017920:Antiporters / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D005953:Glycogen Storage Disease Type I / Q000235:genetics*; D006801:Humans; D007223:Infant; D007564:Japan; D008297:Male; D008969:Molecular Sequence Data; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D009154:Mutation; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D019914:Taq Polymerase / Q000378:metabolism
chemical_list: D017920:Antiporters; D009004:Monosaccharide Transport Proteins; C503531:SLC37A4 protein, human; C111261:glucose 6-phosphate(transporter); D019914:Taq Polymerase