771 research outputs found

    Haplotyping the human leukocyte antigen system from single chromosomes

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    We describe a method for determining the parental HLA haplotypes of a single individual without recourse to conventional segregation genetics. Blood samples were cultured to identify and sort chromosome 6 by bivariate flow cytometry. Single chromosome 6 amplification products were confirmed with a single nucleotide polymorphism (SNP) array and verified by deep sequencing to enable assignment of both alleles at the HLA loci, defining the two haplotypes. This study exemplifies a rapid and efficient method of haplotyping that can be applied to any chromosome pair, or indeed all chromosome pairs, using a single sorting operation. The method represents a cost-effective approach to complete phasing of SNPs, which will facilitate a deeper understanding of the links between SNPs, gene regulation and protein function

    Isotopic analysis of faunal material from South Uist, Western Isles, Scotland

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    This paper reports on the results from stable isotope analysis of faunal bone collagen from a number of Iron Age and later sites on the island of South Uist, in the Western Isles, Scotland. This preliminary investigation into the isotopic signatures of the fauna is part of a larger project to model the interaction between humans, animals, and the broader environment in the Western Isles. The results demonstrate that the island fauna data fall within the range of expected results for the UK, with the terrestrial herbivorous diets of cattle and sheep confi rmed. The isotopic composition for pigs suggests that some of these animals had an omnivorous diet, whilst a single red deer value might be suggestive of the consumption of marine foods, such as by grazing on seaweed. However, further analysis is needed in order to verify this anomalous isotopic ratio

    Spin-Peierls transition in NaV2O5 in high magnetic fields

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    We investigate the magnetic field dependence of the spin-Peierls transition in NaV2_2O5_5 in the field range 16T-30T. The transition temperature exhibits a very weak variation with the field, suggesting a novel mechanism for the formation of the spin-Peierls state. We argue that a charge ordering transition accompanied by singlet formation is consistent with our observations.Comment: 4 pages, 3 figures, final version to appear in Phys. Rev. B (RC

    BCS and BEC p-wave pairing in Bose-Fermi gases

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    The pairing of fermionic atoms in a mixture of atomic fermion and boson gases at zero temperature is investigated. The attractive interaction between fermions, that can be induced by density fluctuations of the bosonic background, can give rise to a superfluid phase in the Fermi component of the mixture. The atoms of both species are assumed to be in only one internal state, so that the pairing of fermions is effective only in odd-l channels. No assumption about the value of the ratio between the Fermi velocity and the sound velocity in the Bose gas is made in the derivation of the energy gap equation. The gap equation is solved without any particular "ansatz" for the pairing field or the effective interaction. The p-wave superfluidity is studied in detail. By increasing the strength and/or decreasing the range of the effective interaction a transition of the fermion pairing regime, from the Bardeen-Cooper-Schrieffer state to a system of tightly bound couples can be realized. These composite bosons behave as a weakly-interacting Bose-Einstein condensate.Comment: 14 pages, 6 eps-figures. To be published in European Physical Journal

    Untreated PKU patients without intellectual disability: what do they teach us?

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    Phenylketonuria (PKU) management is aimed at preventing neurocognitive and psychosocial dysfunction by keeping plasma phenylalanine concentrations within the recommended target range. It can be questioned, however, whether universal plasma phenylalanine target levels would result in optimal neurocognitive outcomes for all patients, as similar plasma phenylalanine concentrations do not seem to have the same consequences to the brain for each PKU individual. To better understand the inter-individual differences in brain vulnerability to high plasma phenylalanine concentrations, we aimed to identify untreated and/or late-diagnosed PKU patients with near-normal outcome, despite high plasma phenylalanine concentrations, who are still alive. In total, we identified 16 such cases. While intellectual functioning in these patients was relatively unaffected, they often did present other neurological, psychological, and behavioral problems. Thereby, these "unusual" PKU patients show that the classical symptomatology of untreated or late-treated PKU may have to be rewritten. Moreover, these cases show that a lack of intellectual dysfunction despite high plasma phenylalanine concentrations does not necessarily imply that these high phenylalanine concentrations have not been toxic to the brain. Also, these cases may suggest that different mechanisms are involved in PKU pathophysiology, of which the relative importance seems to differ between patients and possibly also with increasing age. Further research should aim to better distinguish PKU patients with respect to their cerebral effects to high plasma phenylalanine concentrations

    Longitudinal double-spin asymmetry and cross section for inclusive neutral pion production at midrapidity in polarized proton collisions at sqrt(s) = 200 GeV

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    We report a measurement of the longitudinal double-spin asymmetry A_LL and the differential cross section for inclusive Pi0 production at midrapidity in polarized proton collisions at sqrt(s) = 200 GeV. The cross section was measured over a transverse momentum range of 1 < p_T < 17 GeV/c and found to be in good agreement with a next-to-leading order perturbative QCD calculation. The longitudinal double-spin asymmetry was measured in the range of 3.7 < p_T < 11 GeV/c and excludes a maximal positive gluon polarization in the proton. The mean transverse momentum fraction of Pi0's in their parent jets was found to be around 0.7 for electromagnetically triggered events.Comment: 6 pages, 3 figures, submitted to Phys. Rev. D (RC

    Measurement of the Bottom contribution to non-photonic electron production in p+pp+p collisions at s\sqrt{s} =200 GeV

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    The contribution of BB meson decays to non-photonic electrons, which are mainly produced by the semi-leptonic decays of heavy flavor mesons, in p+pp+p collisions at s=\sqrt{s} = 200 GeV has been measured using azimuthal correlations between non-photonic electrons and hadrons. The extracted BB decay contribution is approximately 50% at a transverse momentum of pT5p_{T} \geq 5 GeV/cc. These measurements constrain the nuclear modification factor for electrons from BB and DD meson decays. The result indicates that BB meson production in heavy ion collisions is also suppressed at high pTp_{T}.Comment: 6 pages, 4 figures, accepted by PR

    Longitudinal scaling property of the charge balance function in Au + Au collisions at 200 GeV

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    We present measurements of the charge balance function, from the charged particles, for diverse pseudorapidity and transverse momentum ranges in Au + Au collisions at 200 GeV using the STAR detector at RHIC. We observe that the balance function is boost-invariant within the pseudorapidity coverage [-1.3, 1.3]. The balance function properly scaled by the width of the observed pseudorapidity window does not depend on the position or size of the pseudorapidity window. This scaling property also holds for particles in different transverse momentum ranges. In addition, we find that the width of the balance function decreases monotonically with increasing transverse momentum for all centrality classes.Comment: 6 pages, 3 figure
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