Publicação
MtDNA single macrodeletions associated with myopathies: absence of haplogroup-related increased risk
| Resumo: | 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. |
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| Autores principais: | Goios, A |
| Outros Autores: | Nogueira, C; Pereira, C; Vilarinho, L; Amorim, A; Pereira, L |
| Assunto: | Adolescent Adult Aged Animals Child DNA Mitochondrial/genetics Female Gene Deletion Genetic Variation Genome Haplotypes Humans Infant Newborn Male Middle Aged Mitochondrial Myopathies/genetics Muscular Diseases/genetics Muscular Diseases/pathology Mutation Polymorphism Genetic Risk |
| Ano: | 2005 |
| País: | Portugal |
| Tipo de documento: | artigo |
| Tipo de acesso: | acesso restrito |
| Instituição associada: | Universidade do Porto |
| Idioma: | inglês |
| Origem: | Repositório Aberto da Universidade do Porto |
| Resumo: | 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. |
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