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.
Artigo
em Chinês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Erros Inatos do Metabolismo da Purina-Pirimidina
/
Anormalidades Múltiplas
/
Encefalopatias
/
Íntrons
/
China
/
Éxons
/
Povo Asiático
/
Amidoidrolases
/
Genética
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
/
Lactente
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2018
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS