A KIT FOR DETECTING MUTATION OR POLYMORPHISM IN THE HUMAN MITOCHONDRIAL DNA

The present invention relates to a kit for detecting mutation or polymorphism in the human mitochondrial DNA (mtDNA) comprising probes of SEQ ID Nos. 1 to 96 for the detection and diagnosis of such a mitochondrial diseases as chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayre syndrome...

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Bibliographic Details
Main Authors JANKEVICS, Eriks, INASKINA, Inna, STAVUSIS, Janis, PLISS, Liana, PELNENA, Dita
Format Patent
LanguageEnglish
French
German
Published 09.11.2016
Subjects
BEER
BIOCHEMISTRY
CHEMISTRY
COMPOSITIONS OR TEST PAPERS THEREFOR
CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES
ENZYMOLOGY
MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS
METALLURGY
MICROBIOLOGY
MUTATION OR GENETIC ENGINEERING
PROCESSES OF PREPARING SUCH COMPOSITIONS
SPIRITS
VINEGAR
WINE
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Summary:The present invention relates to a kit for detecting mutation or polymorphism in the human mitochondrial DNA (mtDNA) comprising probes of SEQ ID Nos. 1 to 96 for the detection and diagnosis of such a mitochondrial diseases as chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayre syndrome (KSS), Leber hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy myopathy sensory ataxia (MEMSA), myoclonic epilepsy with ragged-red fibres (MERRF), mitochondrial recessive ataxia syndrome (MIRAS), neurogenic weakness with ataxia and retinitis pigmentosa (NARP), sensory ataxia neuropathy, dysarthria, ophthalmoplegia (SANDO), spinocerebellar ataxia with epilepsy (SCAE), Alpers-Huttenlocher syndrome, Pearson syndrome, Infantile myopathy and lactic acidosis or Leigh syndrome.
Bibliography:Application Number: EP20150166675