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

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Mroczek-Tonska K., Ratajska D., Guillot C., Sasiadek M., Ambroziak A., Lubos L., Bartnik E.

Acta Biochimica Polonica

2002

tom 49

nr 1

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.

Ograniczanie wyników

1 Acta Biochimica Polonica

1 Ambroziak A.

1 Bartnik E.

1 Guillot C.

1 Lubos L.

1 Mroczek-Tonska K.

1 Ratajska D.

1 Sasiadek M.

1 2002

Wyniki wyszukiwania

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