Genetic analysis of ASS1, ASL and SLC25A13 in citrullinemia patients / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 268-271, 2014.
Artículo
en Chino
| WPRIM
| ID: wpr-254469
ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutations of Y9ASS1, ASL and SLC25A13 genes in four patients manifesting citrullinemia.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood leukocytes. Exons and their flanking sequences of the three genes were amplified with polymerase chain reaction and subjected to direct DNA sequencing.</p><p><b>RESULTS</b>Based on DNA sequence analysis, one case was diagnosed with argininosuccinate synthetase deficiency, and the mutation type (ASS1 gene) was c.236C>T (p.S79F) + c.431C>G (p.P144R). Two cases were diagnosed with argininosuccinic aciduria (ASL gene), and their gene mutations were c.434A>G (p.D145G) + c.1366C>T (p.R456W) and c.331C>T (p.R111W) + IVS8+2insT, respectively. A thirteen months boy who carried a heterozygous 851del4 mutation (SLC25A13 gene) was diagnosed with citrullinemia adult-onset type II.</p><p><b>CONCLUSION</b>Through analysis of relevant pathogenic genes, four patients have been diagnosed.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Argininosuccinatoliasa
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Argininosuccinato Sintasa
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Datos de Secuencia Molecular
/
Secuencia de Bases
/
Secuencia de Aminoácidos
/
Mutación Puntual
/
Citrulinemia
/
Proteínas de Transporte de Membrana Mitocondrial
/
Genética
Límite:
Adulto
/
Femenino
/
Humanos
/
Lactante
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2014
Tipo del documento:
Artículo
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