mtDNA single macrodeletions associated with myopathies: Absence of haplogroup-related increased risk

• Tipo: Artigo em Revista Científica Internacional
• Data: 2005

Autores

Goios, A (Autor) Outra; Nogueira, C (Autor) Outra; Pereira, C (Autor) Outra; Vilarinho, L (Autor) Outra; Amorim, A (Autor) FCUP; Pereira, L (Autor) Outra

Revista

Título: Journal of Inherited Metabolic Disease

Vol. 28

Páginas: 769-778

ISSN: 0141-8955

Editora: Springer Nature

Indexação

ISI Web of Knowledge - 3 Citações

Scopus - 3 Citações

Classificação Científica

FOS: Ciências médicas e da saúde > Medicina clínica

Outras Informações

ID Authenticus: P-000-62Z

DOI: 10.1007/s10545-005-0023-z

Abstract (EN): As for any non-recombining genome, any mutation at mtDNA, if not recurrent, appears on a particular haplotype background, allowing its detection by haplogroup association studies. It has been shown that the propensity for occurrence of single macrodeletions at a level beyond the pathological threshold is associated with super-haplogroup U/K. However, in this report, we present evidence for the absence of preferential haplogroup backgrounds for single macrodeletions. We have analysed how haplogroup diagnostic polymorphisms could disrupt direct repeats usually flanking the deleted segment, and we have concluded that for the Common Deletion, no such polymorphisms are observed in humans, but they do occur in other primates. Furthermore, we also report five new single macrodeletions.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 10