Molecular diagnosis of OTC gene mutation in a Chinese family with ornithine transcarbamylase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 195-198, 2013.
Article
Dans Chinois
| WPRIM
| ID: wpr-237283
ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutations of OTC gene in a male infant affected with ornithine transcarbamylase deficiency.</p><p><b>METHODS</b>Genomic DNA were isolated from peripheral blood samples of family members and 100 healthy individuals. Potential mutations of the 10 exons of OTC gene were screened with PCR and Sanger sequencing.</p><p><b>RESULTS</b>A homozygous missense mutation c.917G>C in exon 9, which results in p.R306T, was identified in the infant. Sequencing of the mother and two female members of the family indicated a heterozygous status for the same mutation. The same mutation was not found in other members of the family and 100 healthy controls.</p><p><b>CONCLUSION</b>A missense mutation c.917G>C in the OTC gene is responsible for the pathogenesis of the disease. Identification of the mutation can facilitate prenatal diagnosis and genetic counseling for the family.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Ornithine carbamoyltransferase
/
Analyse de séquence d'ADN
/
Biologie informatique
/
Déficit en ornithine carbamyl transférase
/
Diagnostic
/
Génétique
/
Mutation
Type d'étude:
Etude diagnostique
Limites du sujet:
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2013
Type:
Article
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