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.
Artículo
en Chino
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Análisis Mutacional de ADN
/
Datos de Secuencia Molecular
/
Secuencia de Bases
/
Proteínas Portadoras
/
Estudios de Casos y Controles
/
Química
/
Reacción en Cadena de la Polimerasa
/
Exones
/
Secuencia de Aminoácidos
Tipo de estudio:
Estudio observacional
Límite:
Animales
/
Femenino
/
Humanos
/
Masculino
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2009
Tipo del documento:
Artículo
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