title: Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia.
abstract: Glycogen storage disease type Ia (GSD Ia) is caused by a deficiency of glucose-6-phosphatase (G6Pase) activity. Eighteen GSD Ia families were studied for G6Pase gene mutations. Thirty-two mutations were found in 36 GSD Ia chromosomes: 16 were 727 G-->T (44.44%); 13 were R83H (327 G-->T; 36.11%); 1 was 341delG; 1 was 933insAA; and 1 was 793 G-->T. The 727 G-->T and R83H mutations together accounted for 80.56% (29/36) of the GSD Ia chromosomes. These two mutations were easily examined by polymerase chain reaction-based methods, and the prenatal diagnosis of a non-affected fetus was successfully made. The 727 G-->T mutation is the predominant mutation in Japanese GSD Ia patients, but is rarely seen in Western counties. The 727 G-->T mutation is also the most prevalent mutation in Taiwan Chinese, although the incidence is not as high as in Japan.
authors.affiliation: Department of Medical Genetics, College of Medicine, National Taiwan University, R.O.C.
authors.forename: S C
authors.initials: SC
authors.lastname: Chiang
authors.forename: Y M
authors.initials: YM
authors.lastname: Lee
authors.forename: M H
authors.initials: MH
authors.lastname: Chang
authors.forename: T R
authors.initials: TR
authors.lastname: Wang
authors.forename: T M
authors.initials: TM
authors.lastname: Ko
authors.forename: W L
authors.initials: WL
authors.lastname: Hwu
mesh_terms: D044466:Asian People; D002648:Child; D002675:Child, Preschool; D015193:Chorionic Villi Sampling; D004247:DNA / Q000097:blood; D005260:Female; D016368:Frameshift Mutation; D005820:Genetic Testing; D005952:Glucose-6-Phosphatase / Q000235:genetics* / Q000378:metabolism; D005953:Glycogen Storage Disease Type I / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D013624:Taiwan
chemical_list: D004247:DNA; D005952:Glucose-6-Phosphatase