DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese.
Mol Genet Metab
; 83(3): 271-5, 2004 Nov.
Article
em En
| MEDLINE
| ID: mdl-15542399
ABSTRACT
Glycogen storage disease type III (GSD III) is an inborn error of glycogen metabolism caused by a deficiency of glycogen debranching enzyme (AGL). Here, we investigate two unrelated Hong Kong Chinese GSD III patients and identify a novel 5-base pair deletional mutation, 2715_2719delTCAGAin exon 22, in one patient and a nonsense mutation, 1222C>T (R408X) in exon 11, in another patient. Since GSD IIIb is only caused by mutation in exon 3 of the AGL gene, we diagnose our patients to have GSD IIIa, which is consistent with the clinical diagnosis. Until now, R408X has only been reported in Faroe Islands GSDIII patients and was thought to demonstrate a founder effect. In this study, haplotyping of the disease-bearing chromosomes in the AGL locus by 19 intragenic single nucleotide polymorphisms shows that R408X is linked with IVS16+8T and IVS23-21T in our patient while R408X is linked with IVS16+8C and IVS23-21A in the Faroe Islands. The different haplotypes of R408X in Chinese and Faroese indicated that R408X is a recurrent mutation.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Haplótipos
/
Sistema da Enzima Desramificadora do Glicogênio
/
Doença de Depósito de Glicogênio Tipo III
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Deleção de Genes
/
Códon sem Sentido
Limite:
Humans
País/Região como assunto:
Asia
Idioma:
En
Ano de publicação:
2004
Tipo de documento:
Article