The frequency of mtDNA 8994 polymorphism and detection of the NARP 8993 mutation
| Autor: | R G F Gray, A Marshall, S K Heath, P A Davies |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2002 |
| Předmět: |
Mitochondrial DNA
Population DNA Mutational Analysis Biology medicine.disease_cause DNA Mitochondrial law.invention Recognition sequence Gene Frequency law Genetics medicine Humans education Genetics (clinical) Polymerase chain reaction education.field_of_study Mutation Polymorphism Genetic Transition (genetics) Restriction enzyme Agarose gel electrophoresis Ataxia Nervous System Diseases Letter to JMG Retinitis Pigmentosa |
| Popis: | 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 Hap II or Hpa II (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) … |
| Databáze: | OpenAIRE |
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