Jul 26, 2002

Heteroplasmy analysis in the Polish patients with 11778A mutation responsible for Leber hereditary optic neuropathy

Acta biochimica Polonica
Katarzyna Mroczek-TońskaEwa Bartnik

Abstract

We have analysed the heteroplasmy level in 11 individuals from 3 families harbouring the mitochondrial 11778A mutation responsible for Leber hereditary optic neuropathy using last cycle hot PCR. The mutation level exceeded 90% both in affected and in unaffected individuals. We also checked whether any of the families belonged to the J haplogroup of mitochondrial DNA and obtained a negative result.

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Mentioned in this Paper

DNA, Mitochondrial
Optic Atrophy, Hereditary, Leber
Mitochondria
Mitochondrial DNA Location
Mutation Abnormality
Genetic Carriers
Genealogical Tree

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