[Analysis of UPB1 gene mutation in a family affected with beta-ureidopropinoase deficiency].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 32(5): 647-50, 2015 Oct.
Article
em Zh
| MEDLINE
| ID: mdl-26418983
ABSTRACT
OBJECTIVE To detect potential mutation in a Chinese family affected with beta-ureidopropinoase deficiency. METHODS Genomic DNA was extracted from peripheral blood samples. All exons and flanking intron regions of the UPB1 gene were amplified by PCR and detected by direct sequencing. RESULTS A homozygous mutation c.977G>A was identified in exon 9 of the UPB1 gene in the proband. Both parents of the proband had heterozygous change of the same site. CONCLUSION The c.977G>A mutation of the UPB1 gene is responsible for the pathogenesis of the disease in the infant.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Erros Inatos do Metabolismo da Purina-Pirimidina
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Anormalidades Múltiplas
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Encefalopatias
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Amidoidrolases
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Transtornos dos Movimentos
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Mutação
Limite:
Humans
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Infant
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Male
Idioma:
Zh
Ano de publicação:
2015
Tipo de documento:
Article