Mutation analysis of GCDH gene in four patients with glutaric academia type I / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 187-191, 2015.
Artigo
em Chinês
| WPRIM
| ID: wpr-239508
ABSTRACT
<p><b>OBJECTIVE</b>To report on clinical features of four patients with glutaric academia type Ⅰ (GA-1) and mutations identified in the glutaryl-CoA dehydrogenase (GCDH) gene.</p><p><b>METHODS</b>All of the patients underwent magnetic resonance imaging (MRI) analysis. Blood acylcarnitine and urine organic acid were analyzed with tandem mass spectrometry and gas chromatographic mass spectrometry. Genomic DNA was extracted from peripheral blood samples. The 11 exons and flanking sequences of the GCDH gene were amplified with PCR and subjected to direct DNA sequencing.</p><p><b>RESULTS</b>Mutations of the GCDH gene were identified in all of the patients. Three had homozygous mutations. A recurrent mutation, IVS10-2A>C, was found in the four unrelated families, while the mutation of c.245G>C (p.Arg82Pro) was novel.</p><p><b>CONCLUSION</b>IVS10-2A>C is likely a founder mutation for Chinese population in Wenzhou.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Encefalopatias Metabólicas
/
Diagnóstico por Imagem
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Análise Mutacional de DNA
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Imageamento por Ressonância Magnética
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Dados de Sequência Molecular
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Sequência de Bases
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Radiografia
/
Química
/
Éxons
/
Alinhamento de Sequência
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Lactente
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2015
Tipo de documento:
Artigo
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