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361.
362.
Branicki W Liu F van Duijn K Draus-Barini J Pośpiech E Walsh S Kupiec T Wojas-Pelc A Kayser M 《Human genetics》2011,129(4):443-454
Predicting complex human phenotypes from genotypes is the central concept of widely advocated personalized medicine, but so
far has rarely led to high accuracies limiting practical applications. One notable exception, although less relevant for medical
but important for forensic purposes, is human eye color, for which it has been recently demonstrated that highly accurate
prediction is feasible from a small number of DNA variants. Here, we demonstrate that human hair color is predictable from
DNA variants with similarly high accuracies. We analyzed in Polish Europeans with single-observer hair color grading 45 single
nucleotide polymorphisms (SNPs) from 12 genes previously associated with human hair color variation. We found that a model
based on a subset of 13 single or compound genetic markers from 11 genes predicted red hair color with over 0.9, black hair
color with almost 0.9, as well as blond, and brown hair color with over 0.8 prevalence-adjusted accuracy expressed by the
area under the receiver characteristic operating curves (AUC). The identified genetic predictors also differentiate reasonably
well between similar hair colors, such as between red and blond-red, as well as between blond and dark-blond, highlighting
the value of the identified DNA variants for accurate hair color prediction. 相似文献
363.
364.
Fungi of the genus Fusarium are important plant pathogens and contaminants of cereal grains producing different types of mycotoxins. Enniatins are a group of mycotoxins with ionophoric properties frequently detected in North European grains. Within the Fusarium complex responsible for grain infection, Fusarium avenaceum, Fusarium poae and Fusarium tricinctum are the most potential enniatins producers. This study presents the development of two quantitative TaqMan MGB (Minor Groove Binder) assays for the specific quantification of F. avenaceum/F. tricinctum and F. poae esyn1 genotypes, respectively. Two sets of genotype-specific primers/probes were designed on the basis of esyn1 gene homologues encoding multifunctional enzyme enniatin synthetase. The specificity of the assays developed has been tested successfully on 111 Fusarium isolates from different geographical origins. The detection limits for F. avenaceum/F. tricinctum esyn1 genotype and F. poae genotype were 19 and 0.3?pg, respectively. The application of the assays developed on asymptomatic wheat grain samples revealed significant positive correlations between the enniatins levels and the amount of F. avenaceum/F. tricinctum esyn1 genotype (R=0.61) and F. poae esyn1 genotype (R=0.42). 相似文献
365.
Renata Krupa Anna Sobczuk Tomasz Popławski Katarzyna Wozniak Janusz Blasiak 《Molecular biology reports》2011,38(2):1163-1170
The cellular reaction to the DNA-damaging agents may modulate individual’s cancer susceptibility. This reaction is mainly
determined by the efficacy of DNA repair, which in turn, may be influenced by the variability of DNA repair genes, expressed
by their polymorphism. The hOGG1 gene encodes a glycosylase of base excision repair and RAD51 specifies a key protein in homologues recombination repair. Both proteins can be involved in the repair of DNA lesions, which
are known to contribute to endometrial cancer. In the present work we determined the extent of basal DNA damage and the efficacy
of removal of DNA damage induced by hydrogen peroxide and N-methyl-N′-nitro N-nitrosoguanidyne (MNNG) in peripheral blood
lymphocytes of 30 endometrial cancer patients and 30 individuals without cancer. The results from DNA damage and repair study
were correlated with the genotypes of two common polymorphisms of the hOGG1 and RAD51 genes: a G>C transversion at 1245 position of the hOGG1 gene producing a Ser → Cys substitution at the codon 326 (the Ser326Cys polymorphism) and a G>C substitution at 135 position
of the RAD51 gene (the 135G>C polymorphism). DNA damage and repair were evaluated by alkaline single cell gel electrophoresis and genotypes
were determined by restriction fragment length polymorphism PCR. We observed a strong association between endometrial cancer
and the C/C genotype of the 135G>C polymorphism of the RAD51 gene. Moreover, there was a strong correlation between that genotype and endometrial cancer occurrence in subjects with a
high level of basal DNA damage. We did not observe any correlation between the Ser326Cys polymorphism of the hOGG1 gene and endometrial cancer. Our result suggest that the 135G>C polymorphism of the RAD51 gene may be linked to endometrial cancer and can be considered as an additional marker of this disease. 相似文献
366.
Staphylococcal cysteine proteases are implicated as virulence factors in human and avian infections. Human strains of Staphylococcus aureus secrete two cysteine proteases (staphopains A and B), whereas avian strains express staphopain C (ScpA2), which is distinct from both human homologues. Here, we describe probable reasons why the horizontal transfer of a plasmid encoding staphopain C between avian and human strains has never been observed. The human plasma serine protease inhibitor α1-antichymotrypsin (ACHT) inhibits ScpA2. Together with the lack of ScpA2 inhibition by chicken plasma, these data may explain the exclusively avian occurrence of ScpA2. We also clarify the mechanistic details of this unusual cross-class inhibition. Analysis of mutated ACHT variants revealed that the cleavage of the Leu383-Ser384 peptide bond results in ScpA2 inhibition, whereas hydrolysis of the preceding peptide bond leads to ACHT inactivation. This evidence is consistent with the suicide-substrate-like mechanism of inhibition. 相似文献
367.
Wisniewska-Jarosinska M Poplawski T Chojnacki CJ Pawlowska E Krupa R Szczepanska J Blasiak J 《Molecular biology reports》2011,38(7):4603-4611
Dental composite materials contain polymers of methacrylates, which, due to mechanical abrasion and enzymatic action of saliva,
may release their monomers into oral cavity and the pulp. Moreover, polymerization is always incomplete and leaves usually
considerable fraction of free monomers. Mechanisms of the genotoxicity of methacrylate monomers have been rarely explored.
As the polymerization of a monomer is catalyzed by a co-monomer, their combined action should be considered. In the present
work, we investigated cytotoxic and genotoxic effects of urethane dimethacrylate (UDMA), often used as a monomer, at 1 mM,
and triethylene glycol dimethacrylate (TEGDMA), a typical co-monomer, at 5 mM singly and in combination. Experiments were
conducted on Chinese hamster ovary cells. Cell viability, apoptosis and cell cycle were assessed by flow cytometry, whereas
DNA damage was evaluated by plasmid conformation test and comet assay. Both compounds decreased the viability of the cells,
but did not induce strand breaks in an isolated plasmid DNA. However, both substances, either singly or in combination, damaged
DNA in CHO cells as evaluated by comet assay. Both compounds induced apoptosis, but a combined action of them led to a decrease
in the number of apoptotic cells. The combined action of UDMA and TEGDMA in the disturbance of cell cycle was lesser compared
to the action of each compound individually. Individually, though UDMA and TEGDMA may induce cytotoxic and genotoxic, however,
a combination of both does not produce a significant increase in these effects. 相似文献
368.
Marlena Lembicz Pawe? Piszcza?ka Tomasz Grzybowski Marcin Wo?niak Artur Jarmo?owski Lidia Borkowska Krystyna Falińska 《Flora》2011,206(9):792-798
Cirsium rivulare is a perennial plant that forms patches consisting of ramets resulting from sexual reproduction by seeds and asexual propagation by rhizome fragmentation. We examined the relationship between the size of patches and genetic differentiation of ramets within and between patches. Ramet genotypes were identified using microsatellites. From among 216 ramets examined in the studied population, 123 had a unique genotype, while 93 were clonal, i.e., their genotype was present in at least two ramets. The frequency of ramets with clonal genotypes was 43% and the frequency of unique genotypes was 57%. Ramets with identical genotypes were dominant in small patches. Large patches consisted of ramets with both unique and clonal genotypes, usually with the predominance of the latter. A molecular variance analysis showed the highest level of variance between ramets and the lowest between patches. Additionally, 21.02% of the total variance was recorded between ramets and within patches. The size of patches was correlated with the number of clonal ramets and the number of unique ramets, but it was not correlated with the clonality index. This population of C. rivulare is currently in a phase of decline from 30 years of vegetation transformation, and there appears to have been an increase in sexual propagation based growth over clonal propagation based growth. Hence, a predominance of ramets with unique genotypes was observed. This can happen as a result of disintegration of large patches and formation of gaps between them. These gaps become convenient places for seed germination and the subsequent development of seedlings. 相似文献
369.
370.
Marzec-Wróblewska U Kamiński P Lakota P Szymański M Wasilow K Ludwikowski G Kuligowska-Prusińska M Odrowąż-Sypniewska G Stuczyński T Michałkiewicz J 《Biological trace element research》2011,143(1):167-177
The aim of the present study was to measure zinc (Zn) and iron (Fe) concentration in human semen and superoxide dismutase
(SOD) activity in seminal plasma and correlate the results with sperm quality. Semen samples were obtained from men (N = 168) undergoing routine infertility evaluation. The study design included two groups based on the ejaculate parameters.
Group I (n = 39) consisted of males with normal ejaculate (normozoospermia), and group II (n = 129) consisted of males with pathological spermiogram. Seminal Zn and Fe were measured in 162 samples (group I, n = 38; group II, n = 124) and SOD activity in 149 samples (group I, n = 37; group II, n = 112). Correlations were found between SOD activity and Fe and Zn concentration, and between Fe and Zn concentration. SOD
activity was negatively associated with volume of semen and positively associated with rapid progressive motility, nonprogressive
motility, and concentration. Negative correlation was stated between Fe concentration and normal morphology. Mean SOD activity
in seminal plasma of semen from men of group I was higher than in seminal plasma of semen from men of group II. Fe concentration
was higher in teratozoospermic males than in males with normal morphology of spermatozoa in group II. Our results suggest
that Fe may influence spermatozoa morphology. 相似文献