A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.
作者： Huoponen K , Savontaus Ml , Nikoskelainen Ek , Vilkki J , Aula P
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摘要: A single base mutation at nucleotide position 3460 (nt 3460) in the ND1 gene human mtDNA was found to be associated with Leber hereditary optic neuroretinopathy (LHON). The G-to-A converts an alanine a threonine 52d codon of gene. also abolishes AhaII restriction site and thus can detected easily by RFLP analysis. three independent Finnish LHON families but none 60 controls. None nt had previously reported 11778 ND4 change is second so far LHON.
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