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- Gorovenko, N. G., et al.
(författare)
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The role of genetic determinant in the development of severe perinatal asphyxia
- 2010
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Ingår i: Cytology and genetics. - : Springer International Publishing AG. - 0095-4527. ; 44:5, s. 294-299
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Tidskriftsartikel (refereegranskat)abstract
- The frequency of GSTT1 and GSTM1 gene deletion polymorphism was determined in a case-control study of full-term Ukrainian newborns including patients with perinatal asphyxia. Multiplex polymerase chain reaction was used for genotyping 245 full-term newborns. The investigated full-term newborns with perinatal asphyxia were subdivided in the subgroups depending of severity of perinatal asphyxia and neonatal outcome. No significant differences in allele frequencies of homozygous null genotypes of GSTT1 and GSTM1 gene were detected among newborns with moderate perinatal asphyxia and healthy control. However, association with the development of severe perinatal asphyxia was detected for the deletion polymorphism in GSTT1 gene and the combination of the GSTT1 absent/GSTM1 absent in the newborns. The study shows that severe perinatal asphyxia may develop in the consequence of genetic predisposition to this condition as compare with moderate.
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| 3. |
- Lundberg, Erik, et al.
(författare)
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Stability and fibril formation properties of human and fish transthyretin, and of the Escherichia coli transthyretin-related protein
- 2009
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Ingår i: FEBS JOURNAL. - : Wiley. - 1742-464X .- 1742-4658. ; 276:7, s. 1999-2011
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Tidskriftsartikel (refereegranskat)abstract
- Human transthyretin (hTTR) is one of several proteins known to cause amyloid disease. Conformational changes in its native structure result in aggregation of the protein, leading to insoluble amyloid fibrils. The transthyretin (TTR)-related proteins comprise a protein family of 5-hydroxyisourate hydrolases with structural similarity to TTR. In this study, we tested the amyloidogenic properties, if any, of sea bream TTR (sbTTR) and Escherichia coli transthyretin-related protein (ecTRP), which share 52% and 30% sequence identity, respectively, with hTTR. We obtained filamentous structures from all three proteins under various conditions, but, interestingly, different structures displayed different tinctorial properties. hTTR and sbTTR formed thin, curved fibrils at low pH (pH 2-3) that bound thioflavin-T (thioflavin-T-positive) but did not stain with Congo Red (CR) (CR-negative). Aggregates formed at the slightly higher pH of 4.0-5.5 had different morphology, displaying predominantly amorphous structures. CR-positive material of hTTR was found in this material, in agreement with previous results. ecTRP remained soluble at pH 2-12 at ambient temperatures. By raising of the temperature, fibril formation could be induced at neutral pH in all three proteins. Most of these temperature-induced fibrils were thicker and straighter than the in vitro fibrils seen at low pH. In other words, the temperature-induced fibrils were more similar to fibrils seen in vivo. The melting temperature of ecTRP was 66.7 degrees C. This is approximately 30 degrees C lower than the melting temperatures of sbTTR and hTTR. Information from the crystal structures was used to identify possible explanations for the reduced thermostability of ecTRP.
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| 4. |
- Lundberg, Gunilla A.
(författare)
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A rapid one-tube PCR method for simultaneously differentiating homozygotes and heterozygotes of the Sp1 binding site polymorphism in collagen type I alpha 1
- 2007
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Ingår i: Molecular and Cellular Probes. - : Elsevier BV. - 0890-8508 .- 1096-1194. ; 21:3, s. 239-241
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Tidskriftsartikel (refereegranskat)abstract
- Rapid detection of single-base changes is fundamental to molecular medicine. PCR amplification of specific alleles (PASA) has previously been used as a rapid method of genotyping single-nucleotide changes, but one reaction is required for each allele. This paper describes a Bidirectional PASA (Bi-PASA) method, which was developed to distinguish between homozygotes and heterozygotes in one PCR reaction. The method is tested using the Sp1 polymorphism in Collagen type la I. The results demonstrate that Bi-PASA is a simple and rapid method for detecting the zygosity of the polymorphism in a single PCR reaction. (c) 2006 Elsevier Ltd. All rights reserved.
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