Mutation analysis of the MMACHC gene in a pedigree with methylmalonic aciduria / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 62-65, 2009.
Artigo
em Chinês
| WPRIM
| ID: wpr-287453
ABSTRACT
<p><b>OBJECTIVE</b>To identify the mutation of the methylmalonic aciduria (cobalamin deficiency) CblC type, with homocystinuria (MMACHC) gene in a pedigree with methylmalonic aciduria.</p><p><b>METHODS</b>The MMACHC gene mutation was detected using polymerase chain reaction (PCR) and DNA sequencing. The MMACHC gene of 50 healthy people was also sequenced as control.</p><p><b>RESULTS</b>A new mutation of 146_154 del CCTTCCTGG was found in the patient and his father, and was absent in the controls.</p><p><b>CONCLUSION</b>A new mutation (146_154 del CCTTCCTGG) in the MMACHC gene was detected in a Chinese family with methylmalonic aciduria.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Análise Mutacional de DNA
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Proteínas de Transporte
/
Estudos de Casos e Controles
/
Química
/
Reação em Cadeia da Polimerase
/
Éxons
/
Sequência de Aminoácidos
Tipo de estudo:
Estudo observacional
Limite:
Animais
/
Feminino
/
Humanos
/
Masculino
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2009
Tipo de documento:
Artigo
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