Analysis of ornithine transcarbamylase gene mutations in three boys affected with late-onset ornithine transcarbamylase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 565-569, 2014.
Article
em Zh
| WPRIM
| ID: wpr-291729
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify the types of OTC gene mutations in three male patients with late onset ornithine transcarbamylase deficiency (OTCD, MIM #311250).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood leukocytes. The 10 exons and their flanking sequences of the OTC gene were amplified with polymerase chain reaction and subjected to direct DNA sequencing.</p><p><b>RESULTS</b>Based on DNA sequence analysis, all of the three patients have carried OTC gene mutations. Patients 1 and 2 were both hemizygous for mutation c.586G> A(p.D196N). A novel mutation c.800G> C(p.S267T) were confirmed in patient 3.</p><p><b>CONCLUSION</b>p.S267T mutation has affected the conserved amino acid motif of the OTC protein, and is therefore a pathogenic mutation.</p>
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Ornitina Carbamoiltransferase
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Epidemiologia
/
Sequência de Aminoácidos
/
Homologia de Sequência de Aminoácidos
/
Análise de Sequência de DNA
/
Idade de Início
/
Doença da Deficiência de Ornitina Carbomoiltransferase
/
Genética
Tipo de estudo:
Prognostic_studies
Limite:
Child
/
Humans
/
Infant
/
Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2014
Tipo de documento:
Article