Clinical and molecular genetic analysis for a patient with glycogen storage disease Ⅰa
WANG Yan, WU Hong-Lin, DU Zhen-Lan, LIU Xin, LI Hao, HE Xi-Yu, WANG Chun-Zhi
The Center of Clinical Genetics, Affiliated Bayi Children's Hospital, General Hospital of Beijing Command of the People's Liberation Army, Beijing 100700, China. wczzy@126.com
Abstract：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.
WANG Yan,WU Hong-Lin,DU Zhen-Lan et al. Clinical and molecular genetic analysis for a patient with glycogen storage disease Ⅰa[J]. CJCP, 2012, 14(11): 856-858.
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