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
em Zh
| WPRIM
| ID: wpr-353848
Biblioteca responsável:
WPRO
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>
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Doença de Depósito de Glicogênio Tipo I
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Análise de Sequência de DNA
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Glucose-6-Fosfatase
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Genética
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Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Child, preschool
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2012
Tipo de documento:
Article