Development of reverse dot-blot system for screening of mitochondrial DNA mutations associated with Leber hereditary optic atrophy
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چکیده
منابع مشابه
Development of reverse dot-blot system for screening of mitochondrial DNA mutations associated with Leber hereditary optic atrophy.
We developed a diagnostic test based on the reverse dot-blot principle, in which five mitochondrial point mutations responsible for Leber hereditary optic neuropathy (LHON) were screened simultaneously. A series of wild-type and mutant oligonucleotides representing each mutation were covalently bound to a single nylon membrane strip. The target sites were amplified in a multiplex PCR and the pr...
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Leber hereditary optic neuropathy (LHON) is caused by point mutations in mitochondrial DNA (mtDNA), and is characterized by bilateral, painless sub-acute visual loss that develops during the second decade of life. Here we report the case of a five year old girl who presented with clinical and neuroradiological findings reminiscent of Leigh syndrome but carried a mtDNA mutation m.11778G>A (p.R34...
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background: leber hereditary optic neuropathy (lhon) is an inherited form of bilateral optic atrophy leading to the loss of central vision. the primary cause of vision loss is mutation in the mitochondrial dna (mtdna), however, unknown secondary genetic and/or epigenetic risk factors are suggested to influence its neuropathology. in this study folate gene polymorphisms were examined as a po...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 1997
ISSN: 0009-9147,1530-8561
DOI: 10.1093/clinchem/43.1.18