Molecular diagnosis of OTC gene mutation in a Chinese family with ornithine transcarbamylase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 195-198, 2013.
Artigo
em Chinês
| WPRIM
| ID: wpr-237283
ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutations of OTC gene in a male infant affected with ornithine transcarbamylase deficiency.</p><p><b>METHODS</b>Genomic DNA were isolated from peripheral blood samples of family members and 100 healthy individuals. Potential mutations of the 10 exons of OTC gene were screened with PCR and Sanger sequencing.</p><p><b>RESULTS</b>A homozygous missense mutation c.917G>C in exon 9, which results in p.R306T, was identified in the infant. Sequencing of the mother and two female members of the family indicated a heterozygous status for the same mutation. The same mutation was not found in other members of the family and 100 healthy controls.</p><p><b>CONCLUSION</b>A missense mutation c.917G>C in the OTC gene is responsible for the pathogenesis of the disease. Identification of the mutation can facilitate prenatal diagnosis and genetic counseling for the family.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Ornitina Carbamoiltransferase
/
Análise de Sequência de DNA
/
Biologia Computacional
/
Doença da Deficiência de Ornitina Carbomoiltransferase
/
Diagnóstico
/
Genética
/
Mutação
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2013
Tipo de documento:
Artigo
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