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

Katarzyna Mroczek-Tońska; Dorota Ratajska; Cecile Guillot; Maria Sasiadek; Anna Ambroziak; Leszek Lubos; Ewa Bartnik

doi:10.18388/abp.2002_3843

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

Katarzyna Mroczek-Tońska Department of Genetics, University of Warsaw, Warszawa, Poland.;
Dorota Ratajska
Cecile Guillot
Maria Sasiadek
Anna Ambroziak
Leszek Lubos
Ewa Bartnik

DOI: https://doi.org/10.18388/abp.2002_3843

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.

Published

2002-03-31

Issue

Vol. 49 No. 1 (2002)

Section

Articles

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