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A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

Abstract：

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

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Huoponen K,Vilkki J,Aula P,Nikoskelainen EK,Savontaus ML

subject

Has Abstract

pub_date

1991-06-01 00:00:00

pages

1147-53

issue

6

eissn

0002-9297

issn

1537-6605

journal_volume

48

pub_type

杂志文章

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