title: [Clinical and molecular genetic analysis for a patient with glycogen storage disease Ⅰa].
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.
authors.affiliation: The Center of Clinical Genetics, Affiliated Bayi Children's Hospital, General Hospital of Beijing Command of the People's Liberation Army, Beijing 100700, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Wang
authors.forename: Hong-Lin
authors.initials: HL
authors.lastname: Wu
authors.forename: Zhen-Lan
authors.initials: ZL
authors.lastname: Du
authors.forename: Xin
authors.initials: X
authors.lastname: Liu
authors.forename: Hao
authors.initials: H
authors.lastname: Li
authors.forename: Xi-Yu
authors.initials: XY
authors.lastname: He
authors.forename: Chun-Zhi
authors.initials: CZ
authors.lastname: Wang
mesh_terms: D002675:Child, Preschool; D005952:Glucose-6-Phosphatase / Q000235:genetics; D005953:Glycogen Storage Disease Type I / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D017422:Sequence Analysis, DNA
chemical_list: D005952:Glucose-6-Phosphatase