Molecular genetic analysis of glycogen storage disease type Ia in 26 Chinese patients.

Abstract

Sequence analysis of 26 patients from Mainland China with glycogen storage disease type Ia revealed a high frequency of two mutations in the glucose-6-phosphatase gene. These mutations, 727G>T and R83H, were also found to be in linkage disequilibrium with a polymorphism at position 1176. These findings have implications for carrier detection and prenatal diagnosis of this disease in the Chinese population.

• Authors: W J Qiu, X F Gu, J Ye, L Sh Han, Y F Zhang, X Q Liu
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 26 Issue 8 Pg. 811-2 ( 2003) ISSN: 0141-8955 [Print] United States
• PMID: 14765536 (Publication Type: Journal Article)

Chemical References

• Glucose-6-Phosphatase

Topics

• Asian People
• Glucose-6-Phosphatase (genetics)
• Glycogen Storage Disease Type I (genetics)
• Humans
• Mutation