Affordable Access

Mitochondrial DNA analysis: polymorphisms and pathogenicity

Authors
Journal
Journal of Medical Genetics
0022-2593
Publisher
BMJ
Publication Date
Keywords
  • Review Article
Disciplines
  • Medicine

Abstract

The investigation of mtDNA disease can be relatively straightforward if a person has a recognisable phenotype and if it is possible to identify a known pathogenic mtDNA mutation. The difficulties arise when no known mtDNA defect can be found, or when the clinical abnormalities are complex and not easily matched to those of the more common mitochondrial disorders. We will describe here the difficulties that can be encountered during the identification of pathogenic mtDNA mutations and the approaches that can be used to confirm, or eliminate, a likely pathogenic role, in either single gene diseases or in multifactorial disorders.


Keywords: mitochondrial DNA; phylogenetic analysis; Leber's hereditary optic neuropathy; Alzheimer's disease

There are no comments yet on this publication. Be the first to share your thoughts.

Statistics

Seen <100 times
0 Comments

More articles like this

Mitochondrial DNA analysis: polymorphisms and path...

on Journal of Medical Genetics July 1999

Polymorphisms analysis of mitochondrial DNA in cod...

on International Congress Series Jan 01, 2006

[Haplotype analysis of single nucleotide polymorph...

on Nihon hōigaku zasshi = The Ja... September 2004
More articles like this..