| 1. |
- James, Peter
(författare)
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Protein expression analysis: from "tip of the iceberg" to a global method.
- 2001
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Ingår i: Disease Markers. - 0278-0240. ; 17:4, s. 235-246
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Tidskriftsartikel (refereegranskat)abstract
- In this review I will describe the advances that have recently been made in "traditional" two-dimensional gel based protein expression analysis. A major jump has been made toward the automation of gel image analysis and comparison, one of the major bottlenecks in the analysis chain as well as the automation of spot excision and preparation for mass spectrometric analysis. Currently the gel-based "proteome mapping" approach is highly effective and 300 gels and over 10,000 spots a week can be analysed. Very recently, viable alternatives to the use of two-dimensional gel electrophoresis have emerged and these approaches are discussed here. In combination with the recently developed stable isotopic tagging methods for peptide quantitation and new mass spectrometers, this emerging technology will be a rapid and highly effective alternative to gel-based methods with few of the latter's shortcomings.
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| 2. |
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| 3. |
- Prochazkova, J, et al.
(författare)
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HLA-association in patients with intolerance to mercury and other metals in dental materials
- 2000
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Ingår i: Disease markers. - : Hindawi Limited. - 0278-0240 .- 1875-8630. ; 16:3-4, s. 135-138
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Tidskriftsartikel (refereegranskat)abstract
- A group of selected 25 patients with serious intolerance to heavy metals used for dental restoration were examined for HLA antigens. A significant increase for HLA – B37, B47 and DR4 was found. The value of the relative risk is not significant after correction for the number of antigens tested and therefore further studies of more patients are needed.
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| 4. |
- Tjensvoll, K, et al.
(författare)
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Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W
- 2003
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Ingår i: Disease markers. - : Hindawi Limited. - 0278-0240 .- 1875-8630. ; 19:1, s. 41-46
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Tidskriftsartikel (refereegranskat)abstract
- Acute intermittent porphyria (AIP), the most common of the acute porphyrias, is caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS) also called porphobilinogen deaminase (PBGD). The mutation spectrum in the HMBS gene is characterized by a majority of family specific mutations. Among the exceptions are R116W and W198X, with high prevalence in both the Dutch and Swedish populations. These two mutations were also detected in unrelated Norwegian patients. Thus, Norwegian and Swedish patients were haplotyped using closely linked flanking microsatellites and intragenic single nucleotide polymorphisms (SNPs) to see if the high frequency of these two mutations is due to a founder effect. Twelve intragenic SNPs were determined by a method based on fluorescent restriction enzyme fingerprinting single-strand conformation polymorphism (F-REF-SSCP).W198X occurred exclusively on one haplotype in both Norwegian and Swedish patients, showing that it has originated from a common gene source. In contrast, R116W was found on three different haplotypes in three Norwegian families, and in five Swedish families on four or five haplotypes. This extreme haplotype heterogeneity indicates that R116W is a recurrent mutation, maybe explained by the high mutability of CpG dinucleotides. This can also explain why it is the only AIP mutation reported to occur in seven different populations (Norway, Sweden, Finland, Netherlands, France, Spain and South Africa).
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