Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC)

• Tipo: Artigo em Revista Científica Internacional
• Data: 2006

Autores

Azevedo, L (Autor) Outra; Soares, PA (Autor) Outra; Quental, R (Autor) Outra; Vilarinho, L (Autor) Outra; Teles, EL (Autor) Outra; Martins, E (Autor) Outra; Diogo, L (Autor) Outra; Garcia, P (Autor) Outra; Cenni, B (Autor) Outra; Wermuth, B (Autor) Outra; Amorim, A (Autor) FCUP

Revista

Título: Annals of Human Genetics

Vol. 70

Páginas: 797-801

ISSN: 0003-4800

Editora: Wiley-Blackwell

Indexação

ISI Web of Knowledge - 5 Citações

Scopus - 8 Citações

Classificação Científica

FOS: Ciências exactas e naturais > Ciências da terra e ciências do ambiente

Outras Informações

ID Authenticus: P-004-G5V

DOI: 10.1111/j.1469-1809.2006.00283.x

Abstract (EN): Ornithine transcarbamylase (OTC; EC 2.1.3.3) is a hepatic enzyme involved in ammonia elimination via the urea cycle. Since the sequence of the OTC gene was reported many types of mutations continue to be found in OTC deficiency patients, continuing to increase the already wide mutational spectrum known for this gene. In this study we present the clinical, biochemical and molecular features of thirteen late-onset OTC deficiency patients. Mutations were identified in all these patients, among which six were novel point substitutions (L59R, A137P, L148S, Y176L, L186P, and K210N) and one was a 2-bp deletion at exon 4 (341-342delAA). In addition, a de novo genomic deletion of maternal origin encompassing exons 1 to 5 was also identified by the analysis of LD patterns using intragenic polymorphic markers. This work exemplifies the potential value of population genetic studies for the detection of large deletions.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 5