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Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON).

Abstract：

:Pathogenetic mutations in mtDNA are found in the majority of patients with Leber hereditary optic neuropathy (LHON), and molecular genetic techniques to detect them are important for the diagnosis. A false-positive molecular genetic error has adverse consequences for the diagnosis of this maternally inherited disease. We found a number of mtDNA polymorphisms that occur adjacent to known LHON-associated mutations and that confound their molecular genetic detection. These transition mutations occur at mtDNA nt 11779 (SfaNI site loss, 11778 mutation), nt 3459 (BsaHI site loss, 3460 mutation), nt 15258 (AccI site loss, 15257 mutation), nt 14485 (mismatch primer Sau3AI site loss, 14484 mutation), and nt 13707 (BstNI site loss, 13708 mutation). Molecular genetic detection of the most common pathogenetic mtDNA mutations in LHON, using a single restriction enzyme, may be confounded by adjacent polymorphisms that occur with a false-positive rate of 2%-7%.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Johns DR,Neufeld MJ

subject

Has Abstract

pub_date

1993-10-01 00:00:00

pages

916-20

issue

4

eissn

0002-9297

issn

1537-6605

journal_volume

53

pub_type

杂志文章

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