Clinical and molecular genetic analysis for a patient with glycogen storage disease Ⅰa / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 856-858, 2012.
Article
in Chinese
| WPRIM
| ID: wpr-353848
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the mutation of glucose-6-phosphatase gene (G6PC gene) in a patient with glycogen storage disease Ⅰa.</p><p><b>METHODS</b>PCR was used to amplify all five exons of G6PC gene. The PCR products were directly sequenced to detect the mutations.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSIONS</b>G222R mutation in G6PC gene was first identified in a patient with glycogen storage disease Ⅰa in mainland China.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Glycogen Storage Disease Type I
/
Sequence Analysis, DNA
/
Glucose-6-Phosphatase
/
Genetics
/
Mutation
Type of study:
Prognostic study
Limits:
Child, preschool
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2012
Type:
Article
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