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Mutations in exons ...
Mutations in exons 2 and 3 of the FOLR1 gene in demented and non-demented elderly subjects
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- Böttiger, Anna K. (författare)
- Örebro universitet,Hälsoakademin
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- Hagnelius, Nils-Olof (författare)
- Örebro universitet,Hälsoakademin
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- Nilsson, Torbjörn K. (författare)
- Örebro universitet,Hälsoakademin
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(creator_code:org_t)
- Athens, Greece : D.A. Spandidos, 2007
- 2007
- Engelska.
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Ingår i: International Journal of Molecular Medicine. - Athens, Greece : D.A. Spandidos. - 1107-3756 .- 1791-244X. ; 20:5, s. 653-662
- Relaterad länk:
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https://urn.kb.se/re...
Abstract
Ämnesord
Stäng
- We have previously reported six novel mutations in the 5'-UTR of the gene for folate receptor-alpha (FOLR1). In our search for additional mutations we screened patients, referred for investigation of suspected dementia (DGM subgroup) by SSCP and DNA sequencing from the end of exon 1 to the first bases of intron 3. We found 4 sequence variations, FOLR1 g.1314G>A, g.1816delC, g.1841G>A, and g.1928C>T. Pyrosequencing genotyping assays were developed for all of them, and 389 active seniors (AS subgroup) and the 202 DGM patients were genotyped for these mutations. The frequency q of the mutated allele was, among the AS subjects, 0.068, 0.0026, 0.0026, and 0.024 respectively, and among the DGM subjects, 0.067, 0.0076, 0.0078, and 0.023. The g.1816delC and g.1841G>A mutations thus were more frequent in the DGM than in the AS subgroup, but the difference did not reach statistical significance. The mutated alleles, FOLR1 1816(-) and 1841A, always occurred together in the same subjects, suggestive of a rare double-mutant haplotype. The two common polymorphisms, FOLR1 g. 1314G>A and g.1928C>T seemed not to raise tHcy plasma levels, whereas the double-mutated g.1816(-)-g.1841A haplotype may possibly have a slight tHcy-raising effect. Thus, so far 8 novel rare FOLR1 mutations with a combined prevalence of approximately 1.3% in Whites as well as two common polymorphisms with 5% and 13%, respectively, have been demonstrated. Only a few of the rare mutations may potentially be associated with raised plasma tHcy concentrations. No association with dementia was found.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Geriatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Geriatrics (hsv//eng)
Nyckelord
- MEDICINE
- MEDICIN
- Geriatrics and medical gerontology
- Geriatrik och medicinsk gerontologi
- Medicine
- Medicin
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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