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The frequency of mtDNA 8994 polymorphism and detection of the NARP 8993 mutation
  1. R G F Gray,
  2. P A Davies,
  3. A Marshall,
  4. S K Heath
  1. Department of Clinical Chemistry, Diana, Princess of Wales Children's Hospital, Birmingham B4 6NH, UK
  1. Correspondence to:
 Dr R G F Gray, of Clinical Chemistry, Diana, Princess of Wales Children's Hospital, Birmingham B4 6NH, UK;
 george.gray{at}bhamchildrens.wmids.nhs.uk

https://doi.org/10.1136/jmg.39.3.204

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    The highly polymorphic nature of the mitochondrial genome (mtDNA) has proved valuable to the population geneticist, but can cause serious problems in the identification of disease causing mutations.

    A T→C or T→G transition at nt 8993 in human mtDNA is associated with an array of clinical phenotypes including Neuropathy, Ataxia and Retinitis Pigmentosa (NARP)1 and Leigh's syndrome.2 Conventionally, it is detected by polymerase chain reaction (PCR) amplification of the region containing the mutant sequence followed by digestion with restriction enzymes HapII or HpaII (recognition sequence c↓cgg) which recognise both sequence changes.1 The presence of either mutation results in the PCR product being cut into two fragments (343 bp and 206 bp), which can be separated and identified by agarose gel electrophoresis.

    A polymorphic G→A transition in the adjacent base (nt 8994) …

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