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- Title
Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia.
- Authors
Chiang, S.-C.; Lee, Y.-M.; Chang, M.-H.; Wang, T.-R.; Ko, T.-M.; Hwu, W.-L.
- Abstract
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 arrow right T (44.44%); 13 were R83H (327 G arrow right T; 36.11%); 1 was 341delG; 1 was 933insAA; and 1 was 793 G arrow right T. The 727 G arrow right 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 arrow right T mutation is the predominant mutation in Japanese GSD Ia patients, but is rarely seen in Western counties. The 727 G arrow right T mutation is also the most prevalent mutation in Taiwan Chinese, although the incidence is not as high as in Japan.
- Subjects
GLUCOSE-6-phosphate dehydrogenase deficiency; GENETIC mutation; MEDICAL genetics
- Publication
Journal of Human Genetics, 2000, Vol 45, Issue 4, p197
- ISSN
1434-5161
- Publication type
Article
- DOI
10.1007/s100380070026