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

Katarzyna Tońska | Zendy; Dorota Ratajska | Zendy; Cécile Guillot | Zendy; Maria Sąsiadek | Zendy; Anna M. Ambroziak | Zendy; Leszek Lubos | Zendy; Ewa Bartnik | Zendy

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

Author(s) -

Katarzyna Tońska,

Dorota Ratajska,

Cécile Guillot,

Maria Sąsiadek,

Anna M. Ambroziak,

Leszek Lubos,

Ewa Bartnik

Publication year - 2002

Publication title -

acta biochimica polonica

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.452

H-Index - 78

eISSN - 1734-154X

pISSN - 0001-527X

DOI - 10.18388/abp.2002_3843

Subject(s) - heteroplasmy , leber's hereditary optic neuropathy , mitochondrial dna , haplogroup , genetics , mutation , optic neuropathy , medicine , haplotype , biology , gene , allele , ophthalmology , optic nerve

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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