Identification of a novel mutation of UPB1 gene in a Chinese family affected with beta-ureidopropinoase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 824-827, 2018.
Article
Dans Chinois
| WPRIM
| ID: wpr-775828
ABSTRACT
OBJECTIVE@#To explore the molecular etiology for a Chinese family affected with beta-ureidopropinoase deficiency.@*METHODS@#Genomic DNA was extracted from the peripheral blood samples of family members. All exons and flanking intron regions of the UPB1 gene were amplified by PCR and detected by direct sequencing. The pathogenicity of identified mutation was analyzed using Polyphen2 and SIFT software.@*RESULTS@#Compound heterozygous mutations of the UPB1 gene, including c.853G>A (p.A285T) and c.917-1G>A, were discovered in the proband, which were inherited respectively from his mother and father. Bioinformatics analysis suggested that this novel mutation was damaging.@*CONCLUSION@#The compound heterozygous mutations of the UPB1 gene probably underlie the beta-ureidopropinoase deficiency in the infant. Discovery of c.853G>A also enriched the mutation spectrum of the UPB1 gene.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Erreurs innées du métabolisme de la purine et de la pyrimidine
/
Malformations multiples
/
Encéphalopathies
/
Introns
/
Chine
/
Exons
/
Asiatiques
/
Amidohydrolases
/
Génétique
Type d'étude:
Etude diagnostique
Limites du sujet:
Humains
/
Bébé
Pays comme sujet:
Asie
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2018
Type:
Article
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