Abstract |
We have screened a large sample of patients with sporadic late-onset dementia of the Alzheimer type (DAT) and age-matched controls for a mitochondrial tRNA(Gln) variant previously reported to be associated with increased risk of developing Alzheimer's disease (AD). The frequency of an Ava II site gain was determined by restriction analysis of a PCR-amplified mitochondrial DNA product. One of 155 DAT cases and four of 105 age-matched controls carried the variant. Both the affected and control frequencies are statistically different from those previously reported. The mitochondrial lineage of those individuals harboring the variant was determined by sequencing a short region of the hypervariable mitochondrial D-loop. The affected individual and three of the four controls carrying the Ava II variant belong to the same mitochondrial lineage previously reported to be associated with AD.
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Authors | M A Wragg, C J Talbot, J C Morris, C L Lendon, A M Goate |
Journal | Neuroscience letters
(Neurosci Lett)
Vol. 201
Issue 2
Pg. 107-10
(Dec 08 1995)
ISSN: 0304-3940 [Print] Ireland |
PMID | 8848229
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- DNA, Mitochondrial
- RNA, Transfer, Gln
- DNA
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Topics |
- Aged
- Alleles
- Alzheimer Disease
(enzymology, genetics)
- Base Sequence
- DNA
(analysis)
- DNA, Mitochondrial
(genetics, metabolism)
- Humans
- Mitochondria
(enzymology)
- Molecular Sequence Data
- Oxidative Phosphorylation
- Polymerase Chain Reaction
- RNA, Transfer, Gln
(genetics)
- White People
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