Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia
Journal
Journal of Human Genetics
Journal Volume
45
Journal Issue
4
Pages
197-199
Date Issued
2000
Author(s)
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.
SDGs
Other Subjects
amino acid; DNA; glucose 6 phosphatase; polypeptide; article; Chinese; chromosome; clinical article; enzyme activity; female; gene; gene mutation; glycogen storage disease type 1; human; male; polymerase chain reaction; restriction fragment length polymorphism; Taiwan
Publisher
Springer Japan
Type
journal article