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
en Zh
| WPRIM
| ID: wpr-291729
Biblioteca responsable:
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
Base de datos:
WPRIM
Asunto principal:
Ornitina Carbamoiltransferasa
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Datos de Secuencia Molecular
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Secuencia de Bases
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Epidemiología
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Secuencia de Aminoácidos
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Homología de Secuencia de Aminoácido
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Análisis de Secuencia de ADN
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Edad de Inicio
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Enfermedad por Deficiencia de Ornitina Carbamoiltransferasa
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Genética
Tipo de estudio:
Prognostic_studies
Límite:
Child
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Humans
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Infant
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2014
Tipo del documento:
Article