Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.
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.
Kojima
Kanako
K
Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan.
Kure
Shigeo
S
Kamada
Fumiaki
F
Hao
Kiyotaka
K
Ichinohe
Akiko
A
Sato
Kenichi
K
Aoki
Yoko
Y
Yoichi
Suzuki
S
Kubota
Mitsuru
M
Horikawa
Reiko
R
Utsumi
Akiko
A
Miura
Masayoshi
M
Ogawa
Shinji
S
Kanazawa
Masaki
M
Kohno
Yoichi
Y
Inokuchi
Mikako
M
Hasegawa
Tomonobu
T
Narisawa
Kuniaki
K
Matsubara
Yoichi
Y
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
D017920:Antiporters; D009004:Monosaccharide Transport Proteins; C503531:SLC37A4 protein, human; C111261:glucose 6-phosphate(transporter); D019914:Taq Polymerase