Prognóza pacientů s chronickou lymfocytární leukemií (CLL) může být upřesněna některými biologickými rizikovými faktory, jejichž stanovení ale musí být před zavedením do klinické praxe dostatečně standardizováno. V této studii se u 73 pacientů stanovoval mutační stav variabilních segmentů genů pro těžký řetězec imunoglobulinu (IgVH), mutace genu p53 a pomocí flow-cytometrie (FCM) exprese CD38 a tyrozinkinázy ZAP-70. Nemutovaný stav IgVH mělo 58 % nemocných, mutaci p53 19 %, pozitivní expresi CD38 26 % a pozitivní expresi ZAP-70 dle FCM 62 %. Pacienti s nemutovaným IgVH, pozitivní expresí ZAP-70 dle FCM a mutací p53, měli statisticky významně kratší čas od diagnózy do zahájení terapie. Celková konkordance mezi expresí ZAP-70 a mutačním stavem IgVH byla 85 %. Validace FCM analýzy exprese ZAP-70 byla provedena srovnáním s imunohistochemickou detekcí ZAP-70 na histologických preparátech a kvantitativní Real-Time PCR na úrovni ZAP-70 mRNA, kdy celková shoda byla 86 %. Exprese ZAP-70 se ukázala být stabilní v průběhu onemocnění; při mediánu 12 měsíců mezi odběrem prvního a posledního vzorku byla zaznamenána kvalitativní změna exprese ZAP-70 pouze u jednoho pacienta, kdy se stala pozitivní při progresi onemocnění.

Individual prognosis in patients with chronic lymphocytic leukemia (CLL) may be specified by biological risk factors, detection of which must however be sufficiently standardized prior to their introduction into clinical practice. In the presented study of 73 patients we have assessed immunoglobulin variable heavy-chain gene (IgVH) status, presence of mutation in p53 gene and with the use of flow cytometry (FCM) expression of CD38 and ZAP-70 tyrosine kinase. Unmutated IgVH status was present in 58 % patients, p53 mutation in 19 %, positive expression of CD38 in 26 % and positive expression of ZAP-70 using FCM in 62 %. Patients with unmutated IgVH, positive expression of ZAP-70 assessed by FCM and p53 mutation had significantly shorter time from diagnosis to initiation of therapy. Overall concordance between ZAP-70 expression and IgVH mutational status was 85 %. Validation of the FCM ZAP-70 detection was performed by comparison to the immunohistochemical analysis on histological sections and quantitative real-time PCR on the mRNA level; overall concordance was 86 %. Expression of ZAP-70 showed to be stable over time; with median time of 12 months from the acquisition of the first sample to the last, qualitative change of ZAP-70 expression was noted in only one patient, who became positive upon disease progression.

• MeSH
• antigeny CD38 genetika   MeSH
• chronická lymfatická leukemie genetika   MeSH
• financování organizované MeSH
• geny p53 genetika   MeSH
• geny pro těžké řetězce imunoglobulinů MeSH
• imunohistochemie využití   MeSH
• lidé MeSH
• mutace MeSH
• prognóza MeSH
• průtoková cytometrie MeSH
• rizikové faktory MeSH
• tyrosinkinasy genetika   MeSH
• Check Tag
• lidé MeSH

• MeSH
• krysa rodu rattus MeSH
• mozek MeSH
• RNA MeSH
• rychlost toku krve MeSH
• Check Tag
• krysa rodu rattus MeSH

Gene flow between species may last a long time in plants. Reticulation inevitably causes difficulties in phylogenetic reconstruction. In this study, we looked into the genetic divergence and phylogeny of 20 Lilium species based on multilocus analyses of 8 genes of chloroplast DNA (cpDNA), the internally transcribed nuclear ribosomal DNA (nrITS) spacer and 20 loci extracted from the expressed sequence tag (EST) libraries of L. longiflorum Thunb. and L. formosanum Wallace. The phylogeny based on the combined data of the maternally inherited cpDNA and nrITS was largely consistent with the taxonomy of Lilium sections. This phylogeny was deemed the hypothetical species tree and uncovered three groups, i.e., Cluster A consisting of 4 taxa from the sections Pseudolirium and Liriotypus, Cluster B consisting of the 4 taxa from the sections Leucolirion, Archelirion and Daurolirion, and Cluster C comprising 10 taxa mostly from the sections Martagon and Sinomartagon. In contrast, systematic inconsistency occurred across the EST loci, with up to 19 genes (95%) displaying tree topologies deviating from the hypothetical species tree. The phylogenetic incongruence was likely attributable to the frequent genetic exchanges between species/sections, as indicated by the high levels of genetic recombination and the IMa analyses with the EST loci. Nevertheless, multilocus analysis could provide complementary information among the loci on the species split and the extent of gene flow between the species. In conclusion, this study not only detected frequent gene flow among Lilium sections that resulted in phylogenetic incongruence but also reconstructed a hypothetical species tree that gave insights into the nature of the complex relationships among Lilium species.

• MeSH
• DNA chloroplastová genetika   MeSH
• fylogeneze MeSH
• lilie klasifikace   genetika   MeSH
• rostlinné geny * MeSH
• tok genů * MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• rychlost toku krve MeSH
• ultrazvuk MeSH
• Publikační typ
• příručky MeSH

• Konspekt
• Patologie. Klinická medicína
• NLK Obory
• hematologie a transfuzní lékařství

Species with vast production of dust-like windborne seeds, such as orchids, should not be limited by seed dispersal. This paradigm, however, does not fit recent studies showing that many sites suitable for orchids are unoccupied and most seeds land close to their maternal plant. To explore this issue, we studied seed dispersal and gene flow of two forest orchid species, Epipactis atrorubens and Cephalanthera rubra, growing in a fragmented landscape of forested limestone hills in southwest Bohemia, Czech Republic. We used a combination of seed trapping and plant genotyping methods (microsatellite DNA markers) to quantify short- and long-distance dispersal, respectively. In addition, seed production of both species was estimated. We found that most seeds landed very close to maternal plants (95% of captured seeds were within 7.2 m) in both species, and dispersal distance was influenced by forest type in E. atrorubens. In addition, C. rubra showed clonal reproduction (20% of plants were of clonal origin) and very low fruiting success (only 1.6% of plants were fruiting) in comparison with E. atrorubens (25.7%). Gene flow was frequent up to 2 km in C. rubra and up to 125 km in E. atrorubens, and we detected a relatively high dispersal rate among regions in both species. Although both species occupy similar habitats and have similar seed dispersal abilities, C. rubra is notably rarer in the study area. Considerably low fruiting success in this species likely limits its gene flow to longer distances and designates it more sensitive to habitat loss and fragmentation.

• MeSH
• ekosystém * MeSH
• Orchidaceae * genetika   MeSH
• šíření semen * MeSH
• tok genů * MeSH
• Publikační typ
• časopisecké články MeSH

Müllerian mimicry rings are remarkable symbiotic species assemblages in which multiple members share a similar phenotype. However, their evolutionary origin remains poorly understood. Although gene flow among species has been shown to generate mimetic patterns in some Heliconius butterflies, mimicry is believed to be due to true convergence without gene flow in many other cases. We investigated the evolutionary history of multiple members of a passerine mimicry ring in the poisonous Papuan pitohuis. Previous phylogenetic evidence indicates that the aposematic coloration shared by many, but not all, members of this genus is ancestral and has only been retained by members of the mimicry ring. Using a newly assembled genome and thousands of genomic DNA markers, we demonstrate gene flow from the hooded pitohui (Pitohui dichrous) into the southern variable pitohui (Pitohui uropygialis), consistent with shared patterns of aposematic coloration. The vicinity of putatively introgressed loci is significantly enriched for genes that are important in melanin pigment expression and toxin resistance, suggesting that gene flow may have been instrumental in the sharing of plumage patterns and toxicity. These results indicate that interspecies gene flow may be a more general mechanism in generating mimicry rings than hitherto appreciated.

• MeSH
• biologická evoluce * MeSH
• druhová specificita MeSH
• fenotyp MeSH
• fylogeneze MeSH
• genom * MeSH
• jedovatá zvířata genetika   MeSH
• pigmentace genetika   MeSH
• proteiny genetika   MeSH
• tok genů * MeSH
• zpěvní ptáci klasifikace   genetika   MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Differences in ploidy levels among different fern species have a vast influence on their mating system, their colonization ability and on the gene flow among populations. Differences in the colonization abilities of species with different ploidy levels are well known: tetraploids, in contrast to diploids, are able to undergo intra-gametophytic selfing. Because fertilization is a post-dispersal process in ferns, selfing results in better colonization abilities in tetraploids because of single spore colonization. Considerably less is known about the gene flow among populations of different ploidy levels. The present study examines two rare fern species that differ in ploidy. While it has already been confirmed that tetraploid species are better at colonizing, the present study focuses on the gene flow among existing populations. We analyzed the genetic structure of a set of populations in a 10×10 km study region using isoenzymes. Genetic variation in tetraploid species is distributed mainly among populations; the genetic distance between populations is correlated with the geographical distance, and larger populations host more genetic diversity than smaller populations. In the diploid species, most variability is partitioned within populations; the genetic distance is not related to geographic distance, and the genetic diversity of populations is not related to the population size. This suggests that in tetraploid species, which undergo selfing, gene flow is limited. In contrast, in the diploid species, which experience outcrossing, gene flow is extensive and the whole system behaves as one large population. Our results suggest that in ferns, the ability to colonize new habitats and the gene flow among existing populations are affected by the mating system.

• MeSH
• alely MeSH
• genetická variace MeSH
• genetické markery MeSH
• heterozygot MeSH
• inbreeding MeSH
• izoenzymy genetika   MeSH
• kapradiny enzymologie   genetika   MeSH
• ploidie * MeSH
• rostlinné geny MeSH
• rostlinné proteiny genetika   MeSH
• rozmnožování MeSH
• tok genů * MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

• Publikační typ
• abstrakt z konference MeSH

The potential for gene exchange across ploidy levels has long been recognized, but only a few studies have explored the rate of gene flow among different cytotypes. In addition, most of the existing knowledge comes from contact zones between diploids and tetraploids. The purpose of this paper was to investigate relationships between diploid and hexaploid individuals within the Aster amellus aggregate. A. amellus is known to occur in diploid and hexaploid cytotypes in Europe, with a complex contact zone in central Europe. Patterns of genetic diversity were investigated using seven microsatellite loci at three different spatial scales: (1) in the single known mixed-ploidy population; (2) in populations at the contact zone and (3) in a wider range of populations across Europe. The results show clear separation of the cytotypes at all three spatial scales. In addition, analysis of molecular variance strongly supported a model predicting a single origin of the hexaploids, with no or very limited gene flow between the cytotypes. Some hexaploid individuals found in the mixed-ploidy population, however, fell into the diploid cluster. This could suggest recurrent polyploid formation or occasional cross-pollination between cytotypes; however, there are strong post-zygotic breeding barriers between the two cytotypes, making the latter less plausible. Overall, the results suggest that the cytotypes could represent two cryptic species. Nevertheless, their formal separation is difficult as they cannot be distinguished morphologically, occupy very similar habitat conditions and have largely overlapping distribution ranges. These results show that polyploid complexes must be treated with caution as they can hide biological diversity and can have different adaptation potentials, evolving independently.

• MeSH
• analýza hlavních komponent MeSH
• Aster genetika   MeSH
• Bayesova věta MeSH
• diploidie * MeSH
• fylogeografie MeSH
• genetická variace MeSH
• mikrosatelitní repetice MeSH
• modely genetické MeSH
• polyploidie * MeSH
• rostlinné geny MeSH
• tok genů * MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Evropa MeSH

• MeSH
• krysa rodu rattus MeSH
• lymfa analýza   fyziologie   MeSH
• proteiny MeSH
• sekretin MeSH
• střeva MeSH
• Check Tag
• krysa rodu rattus MeSH