ASS1 gene mutation in a neonate with citrullinemia type I / 中华儿科杂志
Chinese Journal of Pediatrics
;
(12): 788-791, 2014.
Artigo
em Chinês
| WPRIM
| ID: wpr-293920
ABSTRACT
<p><b>OBJECTIVE</b>To identify the genetic mutation in ASS1 gene in a Chinese family with citrullinemia typeI, which may provide a basis for the diagnosis and genetic counseling.</p><p><b>METHOD</b>Genomic DNA was isolated from peripheral blood samples of the family members. Mutation analysis of ASS1 gene was carried out by PCR and Sanger sequencing. Biostructural analysis of the mutated ASS1 was completed by Phyre server.</p><p><b>RESULT</b>Double heterozygous mutations in the proband were identified c.951delT (F317LfsX375) and c.1087C>T (R363W), which were confirmed in the proband's father and mother, respectively. It was found that the c.951delT mutation might change the formation of a dimer or a tetramer and the function of ASS1 protein.</p><p><b>CONCLUSION</b>Double heterozygous mutations for c.951delT and c.1087C>T have been found in a proband with citrullinemia typeI. The c.951delT is a novel mutation in citrullinemia typeI, which may change the configuration of ASS1 protein and result in ASS1 dysfunction.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Argininossuccinato Sintase
/
Análise Mutacional de DNA
/
Citrulinemia
/
Povo Asiático
/
Genética
/
Mutação
Limite:
Humanos
/
Recém-Nascido
Idioma:
Chinês
Revista:
Chinese Journal of Pediatrics
Ano de publicação:
2014
Tipo de documento:
Artigo
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