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

• Type: Article in International Scientific Journal
• Date: 2005

Authors

Goios, A (Author) Other; Nogueira, C (Author) Other; Pereira, C (Author) Other; Vilarinho, L (Author) Other; Amorim, A (Author) FCUP; Pereira, L (Author) Other

Journal

Title: Journal of Inherited Metabolic Disease

Vol. 28

Pages: 769-778

ISSN: 0141-8955

Publisher: Springer Nature

Indexing

ISI Web of Knowledge - 3 Citations

Scopus - 3 Citations

Scientific classification

FOS: Medical and Health sciences > Clinical medicine

Other information

Authenticus ID: 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 10