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Updated: May 16, 2026

Detecting Glycogen in Peripheral Blood Mononuclear Cells with Periodic Acid Schiff Staining
Published on: December 23, 2014
[Clinical and molecular genetic analysis for a patient with glycogen storage disease Ⅰa]
Yan Wang1, Hong-Lin Wu, Zhen-Lan Du
1The Center of Clinical Genetics, Affiliated Bayi Children's Hospital, General Hospital of Beijing Command of the People's Liberation Army, Beijing 100700, China.
Objective:
To investigate the mutation of glucose-6-phosphatase gene (G6PC gene) in a patient with glycogen storage disease Ⅰa.
Methods:
PCR was used to amplify all five exons of G6PC gene. The PCR products were directly sequenced to detect the mutations.
Results:
A heterozygous 743G>A mutation was found in the patient and his mother, resulting in the substitution of glycine (G) by arginine (R) in codon 222(G222R) in the putative membrane-spanning domain in human G6Pase, but not in his father and his sister.
Conclusions:
G222R mutation in G6PC gene was first identified in a patient with glycogen storage disease Ⅰa in mainland China.
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