mtDNA single macrodeletions associated with myopathies: Absence of haplogroup‐related increased risk
Summary 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...
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Published in | Journal of inherited metabolic disease Vol. 28; no. 5; pp. 769 - 778 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
Published |
Dordrecht
Kluwer Academic Publishers
01.01.2005
Springer Blackwell Publishing Ltd |
Subjects | |
Online Access | Get full text |
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Summary: | Summary
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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Bibliography: | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 0141-8955 1573-2665 |
DOI: | 10.1007/s10545-005-0023-z |