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Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.
Open accessAbstract
Analysis of mitochondrial DNA from patients with Leber's hereditary optic neuropathy and their relatives showed that the previously reported mutation at base pair (bp) 11778, shown by loss of a recognition site for the restriction endonuclease SfaNI, was present in only four out of eight families. This mutation was associated with a poor prognosis for visual recovery, whereas four of five affected males without the 11778 bp mutation followed for four years or more had regained useful vision. All but one of the subjects showing the SfaNI site loss had a variable mixture of mutant and normal mitochondrial DNA in peripheral blood, and the relative proportions appeared to be correlated with the risk of developing or transmitting Leber's hereditary optic neuropathy.
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“The Gill et al. investigation [7] was the first forensic case to show the utility of mtDNA testing of old degraded material.”
From The identification of the Romanovs: Can we (finally) put the controversies to rest? (2011) · cites this paper as [7]
Experimental — accuracy not yet measuredThe check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“Both Gill et al. [7] and Ivanov et al. [13] evaluated the evidence in their investigations using a Bayesian approach to evaluate the weight of the evidence under two opposing hypotheses (likelihood ratio): (1) These are the remains of the Romanovs, and (2) these are not the remains of the Romanovs.”
From The identification of the Romanovs: Can we (finally) put the controversies to rest? (2011) · cites this paper as [7]
Experimental — accuracy not yet measuredThe check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“In the femur of the tsar, Gill et al. [7] discovered the presence of a C/T point heteroplasmy at position 16,169.”
From The identification of the Romanovs: Can we (finally) put the controversies to rest? (2011) · cites this paper as [7]
Experimental — accuracy not yet measuredThe check wasn’t confident either way, so it gives no verdict — never disputed.
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“The comparison of the tsarina's haplotype to her distant cousin, HRH Prince Philip, was an exact match in HVI and HVII.”
From The identification of the Romanovs: Can we (finally) put the controversies to rest? (2011) · cites this paper as [7]
Experimental — accuracy not yet measuredThe check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“Although two sets of skeletal remains belonging to Alexei and one of his sisters were missing from the mass grave, the forensic results were very conclusive in identifying the Romanov family and their servants.”
From The identification of the Romanovs: Can we (finally) put the controversies to rest? (2011) · cites this paper as [7]
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“The initial work from 1993 to 1996 [7,13] was a watershed moment for DNA testing, and despite the feeble attempts to discredit these studies with contaminated data, the results have withstood the test of time throughout scientific advances.”
From The identification of the Romanovs: Can we (finally) put the controversies to rest? (2011) · cites this paper as [7]
Experimental — accuracy not yet measuredThe check wasn’t confident either way, so it gives no verdict — never disputed.
In the citing paper
“Since the modern-day reference sample used by Gill et al. [7] (HRH Prince Philip) did not match their sequence from Ella, Knight et al. [26] concluded that the initial DNA testing of the Romanov remains was wrong.”
From The identification of the Romanovs: Can we (finally) put the controversies to rest? (2011) · cites this paper as [7]
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Metadata
- Authors
- Holt, I. J., Miller, D. H., & Harding, A. E.
- Affiliations
- UCL Queen Square Institute of Neurology (GB)
- ORCID
- Holt, I J
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 1989-12
- Volume
- 26
- Issue
- 12
- Pages
- 739-743
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- PMC
- PMC1015752
- OpenAlex
- W2135692668
- Cited by
- 159
- References
- 18
- Citations by year
- 2026: 1 · 2023: 1 · 2022: 1 · 2020: 2 · 2019: 1 · 2018: 2 · 2017: 1 · 2016: 3 · 2015: 3 · 2014: 1 · 2012: 1
- FWCI
- 8.14
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Medical Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Multiple Sclerosis Society
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Health Sciences › Medicine › Ophthalmology › Glaucoma and retinal disorders
- Keywords
- Leber's hereditary optic neuropathy, mitochondrial heteroplasmy, genetic heterogeneity, disease transmission, mitochondrial DNA mutations
- MeSH terms
- Adult, DNA, Mitochondrial, Electrophoresis, Agar Gel, Female, Humans, Male, Middle Aged, Mutation, Pedigree, Polymorphism, Restriction Fragment Length, Hereditary Sensory and Motor Neuropathy, Optic Atrophies, Hereditary
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