Heteroplasmy analysis in the Polish patients with 11778A mutation responsible for Leber hereditary optic neuropathy.
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.
Mroczek-Tońska
Katarzyna
K
Department of Genetics, University of Warsaw, Warszawa, Poland.
Ratajska
Dorota
D
Guillot
Cecile
C
Sasiadek
Maria
M
Ambroziak
Anna
A
Lubos
Leszek
L
Bartnik
Ewa
E
D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000235:genetics*; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D010375:Pedigree; D011044:Poland