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.
Article
Dans Chinois
| 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>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Analyse de mutations d'ADN
/
Données de séquences moléculaires
/
Séquence nucléotidique
/
Protéines de transport
/
Études cas-témoins
/
Chimie
/
Réaction de polymérisation en chaîne
/
Exons
/
Séquence d'acides aminés
Type d'étude:
Étude observationnelle
Limites du sujet:
Animaux
/
Femelle
/
Humains
/
Mâle
/
Grossesse
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2009
Type:
Article
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