ASS1 gene mutation in a neonate with citrullinemia type I / 中华儿科杂志
Chinese Journal of Pediatrics
;
(12): 788-791, 2014.
Artículo
en Chino
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Argininosuccinato Sintasa
/
Análisis Mutacional de ADN
/
Citrulinemia
/
Pueblo Asiatico
/
Genética
/
Mutación
Límite:
Humanos
/
Recién Nacido
Idioma:
Chino
Revista:
Chinese Journal of Pediatrics
Año:
2014
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS