机构：[1]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.
语种：
中文
第一作者：
第一作者机构：[1]Center of Clinical Genetics, Affiliated Bayi Children's Hospital, General Hospital of Beijing Command of the People's Liberation Army, Beijing 100700, China
推荐引用方式(GB/T 7714)：
Wang Y,Wu H.-L,Du Z.-L,等.Clinical and molecular genetic analysis for a patient with glycogen storage disease Ia[J].2012,14(11):
