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

• Autorzy: Mroczek-Tonska K. , Ratajska D. , Guillot C. , Sasiadek M. , Ambroziak A. , Lubos L. , Bartnik E.
• Języki publikacji: EN

Abstrakty

EN

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.

Słowa kluczowe

EN

mitochondrial DNA; patient; man; Poland; Leber hereditary optical neuropathy

• Wydawca: -
• Czasopismo: Acta Biochimica Polonica
• Rocznik: 2002
• Tom: 49
• Numer: 1
• Opis fizyczny: p.257-262,fig.

Twórcy

autor

Mroczek-Tonska K.

• University of Warsaw, Warsaw, Poland

autor

Ratajska D.

autor

Guillot C.

autor

Sasiadek M.

autor

Ambroziak A.

autor

Lubos L.

autor

Bartnik E.

Bibliografia

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