225 resultados para ring chromosome and SNP-array
em Reposit
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The effects of an in-plane electric field and eccentricity on the electronic spectrum of a GaAs quantum ring in a perpendicular magnetic field are studied. The effective-mass equation is solved by two different methods: an adiabatic approximation and a diagonalization procedure after a conformal mapping. It is shown that the electric field and the eccentricity may suppress the Aharonov-Bohm oscillations of the lower energy levels. Simple expressions for the threshold energy and the number of flat energy bands are found. In the case of a thin and eccentric ring, the intensity of a critical field which compensates the main effects of eccentricity is determined. The energy spectra are found in qualitative agreement with previous experimental and theoretical works on anisotropic rings.
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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Supernumerary chromosomes (B chromosomes) occur in approximately 15% of eukaryote species. Although these chromosomes have been extensively studied, knowledge concerning their specific molecular composition is lacking in most cases. The accumulation of repetitive DNAs is one remarkable characteristic of B chromosomes, and the occurrence of distinct types of multigene families, satellite DNAs and some transposable elements have been reported. Here, we describe the organization of repetitive DNAs in the A complement and B chromosome system in the grasshopper species Abracris flavolineata using classical cytogenetic techniques and FISH analysis using probes for five multigene families, telomeric repeats and repetitive C0t-1 DNA fractions. The 18S rRNA and H3 histone multigene families are highly variable and well distributed in A. flavolineata chromosomes, which contrasts with the conservation of U snRNA genes and less variable distribution of 5S rDNA sequences. The H3 histone gene was an extensively distributed with clusters occurring in all chromosomes. Repetitive DNAs were concentrated in C-positive regions, including the pericentromeric region and small chromosomal arms, with some occurrence in C-negative regions, but abundance was low in the B chromosome. Finally, the first demonstration of the U2 snRNA gene in B chromosomes in A. flavolineata may shed light on its possible origin. These results provide new information regarding chromosomal variability for repetitive DNAs in grasshoppers and the specific molecular composition of B chromosomes. © 2013 Bueno et al.
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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Nonsyndromic clefts of the lip and/or palate are common birth defects with a strong genetic component. Based on unequal gender ratios for clefting phenotypes, evidence for linkage to the X chromosome and the occurrence of several X-linked clefting syndromes, we investigated the role of skewed X chromosome inactivation (XCI) in orofacial clefts. Our samples consisted of female monozygotic (MZ) twins (n = 8) and sister pairs (n = 152) discordant for nonsyndromic clefting. We measured the XCI pattern in peripheral blood lymphocyte DNA using a methylation based androgen receptor gene assay. Skewing of XCI was defined as the deviation in inactivation pattern from a 50:50 ratio. Our analysis revealed no significant difference in the degree of skewing between twin pairs (P = 0.3). However, borderline significant differences were observed in the sister pairs (P = 0.02), with the cleft lip with cleft palate group showing the most significant result (P=0.01). We did not find evidence for involvement of skewed XCI in the discordance for clefting in our sample of female MZ twins. However, results from the paired sister study suggest the potential contribution of skewed XCI to orofacial clefting, particularly cleft lip and palate. (C) 2007 Wiley-Liss, Inc.
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
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The analysis of interactions between lineages at varying levels of genetic divergence can provide insights into the process of speciation through the accumulation of incompatible mutations. Ring species, and especially the Ensatina eschscholtzii system exemplify this approach. The plethodontid salamanders E. eschscholtzii xanthoptica and E. eschscholtzii platensis hybridize in the central Sierran foothills of California. We compared the genetic structure across two transects (southern and northern Calaveras Co.), one of which was resampled over 20 years, and examined diagnostic molecular markers (eight allozyme loci and mitochondrial DNA) and a diagnostic quantitative trait (color pattern). Key results across all studies were: (1) cline centers for all markers were coincident and the zones were narrow, with width estimates of 730 m to 2000 m; (2) cline centers at the northern Calaveras transect were coincident between 1981 and 2001, demonstrating repeatability over five generations; (3) there were very few if any putative F1s, but a relatively high number of backcrossed individuals in the central portion of transects: and (4) we found substantial linkage disequilibrium in all three studies and strong heterozygote deficit both in northern Calaveras, in 2001, and southern Calaveras. Both linkage disequilibrium and heterozygote deficit showed maximum values near the center of the zones. Using estimates of cline width and dispersal, we infer strong selection against hybrids. This is sufficient to promote accumulation of differences at loci that are neutral or under divergent selection, but would still allow for introgression of adaptive alleles. The evidence for strong but incomplete isolation across this centrally located contact is consistent with theory suggesting a gradual increase in postzygotic incompatibility between allopatric populations subject to divergent selection and reinforces the value of Ensatina as a system for the study of divergence and speciation at multiple stages. © 2005 The Society for the Study of Evolution. All rights reserved.
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The stingless bee Partamona helleri in southeast Brazil shows the regular chromosome number 2n = 34 and a variable number of up to four minute B1 or B2 chromosomes. Previous cytogenetic analyses have indicated morphological similarities between the B1 chromosome and chromosome segments in the regular karyotype. In this study, microdissection and chromosome painting were employed along with C banding, NOR banding, and base-specific fluorochrome staining to investigate the origin of the B1 chromosome in P. helleri. B1-generated probe hybridized exclusively to B1 chromosomes. This result suggests an independent origin from the regular karyotype or, alternatively, that the B chromosome may have suffered substantial genetic alterations along its independent evolution. The absence of higher dosages of these small B chromosomes in this population of P. helleri may be related to the existence of either a genetic or cytogenetic constraint in the establishment of such high numbered karyotypes. © 2012 INRA, DIB and Springer-Verlag, France.
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Gymnotus (Gymnotiformes, Gymnotidae) is the most diverse known Neotropical electric knife fish genus. Cytogenetic studies in Gymnotus demonstrate a huge karyotypic diversity for this genus, with diploid numbers ranging from 34 to 54. The NOR are also variable in this genus, with both single and multiple NORs described. A common interpretation is that the single NOR pair is a primitive trait while multiple NORs are derivative. However this hypothesis has never been fully tested. In this report we checked if the NOR-bearing chromosome and the rDNA site are homeologous in different species of the genus Gymnotus: G. carapo (2n = 40, 42, 54), G. mamiraua (2n = 54), G. arapaima (2n = 44), G. sylvius (2n = 40), G. inaequilabiatus (2n = 54) and G. capanema (2n = 34), from the monophyletic group G. carapo (Gymnotidae-Gymnotiformes), as well as G. jonasi (2n = 52), belonging to the G1 group. They were analyzed with Fluorescence in situ hybridization (FISH) using 18S rDNA and whole chromosome probes of the NOR-bearing chromosome 20 (GCA20) of G. carapo (cytotype 2n = 42), obtained by Fluorescence Activated Cell Sorting. All species of the monophyletic G. carapo group show the NOR in the same single pair, confirmed by hybridization with CGA20 whole chromosome probe. In G. jonasi the NORs are multiple, and located on pairs 9, 10 and 11. In G. jonasi the GCA20 chromosome probe paints the distal half of the long arm of pair 7, which is not a NOR-bearing chromosome. Thus these rDNA sequences are not always in the homeologous chromosomes in different species thus giving no support to the hypothesis that single NOR pairs are primitive traits while multiple NORs are derived. The separation of groups of species in the genus Gymnotus proposed by phylogenies with morphologic and molecular data is supported by our cytogenetic data. © 2013 Milhomem et al.
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Currently, Roux-en-Y gastric bypass (RYGB) is one of the most widely used bariatric surgeries. Banding the pouch forms a banded gastric bypass operation, an accepted and frequently used variant. Placing a silastic ring around the pouch to band the gastric bypass operation increases the restriction mechanism. However, the ubiquitous use of the banded gastric bypass remains controversial. One of the controversies is the effect of the silastic ring on patients' perception of their well being after surgery because of the frequency of vomiting. A prospective, blindly randomized, comparative trial was undertaken to resolve this controversy. Four hundred subjects scheduled for gastric bypass surgery were randomized into two arms of the trial, 200 with a silastic ring (WR) and 200 without (NR). After 2-year follow-up, the variables associated with the scores of Bariatric Analysis and Reporting Outcome System (BAROS) were analyzed. The initial median weight (125 kg), BMI (47), and age (36 years) were the same in both the NR and WR groups. The median excess weight loss, weight regain, and incidence of vomiting were 71, 10.5, and 7.75 %, respectively, in the NR group vs. 75.4 and 1.1, and 24.4 % in the WR group. The mean QOL score was 79 % in the NR group vs. 80 % in the WR group. After 2-year follow-up, silastic ring placement in the RYGB resulted in greater weight loss and weight stability and a threefold greater incidence of vomiting. There was no difference in the scores in the quality of life analysis.
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To assist cattle producers transition from microsatellite (MS) to single nucleotide polymorphism (SNP) genotyping for parental verification we previously devised an effective and inexpensive method to impute MS alleles from SNP haplotypes. While the reported method was verified with only a limited data set (N = 479) from Brown Swiss, Guernsey, Holstein, and Jersey cattle, some of the MS-SNP haplotype associations were concordant across these phylogenetically diverse breeds. This implied that some haplotypes predate modern breed formation and remain in strong linkage disequilibrium. To expand the utility of MS allele imputation across breeds, MS and SNP data from more than 8000 animals representing 39 breeds (Bos taurus and B. indicus) were used to predict 9410 SNP haplotypes, incorporating an average of 73 SNPs per haplotype, for which alleles from 12 MS markers could be accurately be imputed. Approximately 25% of the MS-SNP haplotypes were present in multiple breeds (N = 2 to 36 breeds). These shared haplotypes allowed for MS imputation in breeds that were not represented in the reference population with only a small increase in Mendelian inheritance inconsistancies. Our reported reference haplotypes can be used for any cattle breed and the reported methods can be applied to any species to aid the transition from MS to SNP genetic markers. While ~91% of the animals with imputed alleles for 12 MS markers had ≤1 Mendelian inheritance conflicts with their parents' reported MS genotypes, this figure was 96% for our reference animals, indicating potential errors in the reported MS genotypes. The workflow we suggest autocorrects for genotyping errors and rare haplotypes, by MS genotyping animals whose imputed MS alleles fail parentage verification, and then incorporating those animals into the reference dataset.
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This finite element analysis compared stress distribution on complete dentures and implant-retained overdentures with different attachment systems. Four models of edentulous mandible were constructed: group A (control), complete denture; group B, overdenture retained by 2 splinted implants with bar-clip system; group C, overdenture retained by 2 unsplinted implants with o'ring system; and group D, overdenture retained by 2 splinted implants with bar-clip and 2 distally placed o'ring system. Evaluation was performed on Ansys software, with 100-N vertical load applied on central incisive teeth. The lowest maximum general stress value (in megapascal) was observed in group A (64.305) followed by groups C (119.006), D (258.650), and B (349.873). The same trend occurred it) supporting tissues with the highest stress value for cortical bone. Unsplinted implants associated with the o'ring attachment system showed the lowest maximum stress values among all overdenture groups. Furthermore, o'ring system also improved stress distribution when associated with bar-clip system.
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Aim To analyse the thermoplasticity of several endodontic filling materials using the Obtura II System at different temperature settings.Methodology The following materials based on gutta-percha: Regular Obtura (OBT), Obtura Flow 150 (OBT F), Endo Flow (EDF), Odous (ODO) and the synthetic thermoplastic polymer material Resilon (RE) were heated using the Obtura II System at three temperature settings (140, 170 and 200 degrees C). Samples of the heated materials were placed on the sensor of a digital thermometer (THR-140; Instrutherm, São Paulo, Brazil) to determine their real temperature (RT) when the system was set at 140 degrees C (from 64.5 to 69 degrees C), 170 degrees C (from 73.8 to 77.5 degrees C) and 200 degrees C (from 83.6 degrees C for EDF and 100 degrees C for RE). Specimens (n = 30) were made by placing samples of each material in metallic ring moulds and compressing them between two glass slabs. After 24 h, specimens (n = 10) were heated at the different settings (RT) and submitted to compression under a 5-kg load. Plasticization was assessed by calculating the differences between the post-compression and initial diameters of each specimen. Data were submitted to ANOVA and Tukey's test at 5% significance.Results At 140 degrees C, Obtura Flow presented the highest thermoplasticity values and Regular Obtura, the lowest. At 170 degrees C, Obtura Flow and Resilon demonstrated greater plasticization. Resilon had the highest mean thermoplasticity values at 200 degrees C.Conclusions Thermoplasticity values were influenced both by the temperature settings on the Obtura II System and by the type of material analysed. Obtura Flow and Resilon had the highest mean thermoplasticity values.
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)