Please use this identifier to cite or link to this item: http://hdl.handle.net/10216/109580
Author(s): Goios, A
Nogueira, C
Pereira, C
Vilarinho, L
Amorim, A
Pereira, L
Title: MtDNA single macrodeletions associated with myopathies: absence of haplogroup-related increased risk
Publisher: Springer Verlag
Issue Date: 2005
Abstract: 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.
Subject: 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
URI: http://hdl.handle.net/10216/109580
Source: Journal of Inherited Metabolic Disease, vol. 28(5), p. 769-78
Related Information: info:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBD%2F16518%2F2004/PT
Document Type: Artigo em Revista Científica Internacional
Rights: restrictedAccess
Appears in Collections:I3S - Artigo em Revista Científica Internacional

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