[Clinical and molecular genetic analysis for a patient with glycogen storage disease Ⅰa].

To investigate the mutation of glucose-6-phosphatase gene (G6PC gene) in a patient with glycogen storage disease Ⅰa. PCR was used to amplify all five exons of G6PC gene. The PCR products were directly sequenced to detect the mutations. 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. G222R mutation in G6PC gene was first identified in a patient with glycogen storage disease Ⅰa in mainland China.