Analyses génétiques : comment réagir en cas de résultats inattendus ?

Identification génétique, test de paternité, de fratrie, de maternité, tests génétiques diagnostiques, prédictifs, de porteurs et pharmacogénomiques, pénétrance de 100% ou incomplète... Ma cosa fare in questi casi? Pièges et traquenards..

Functionalizing self-assembled GaN quantum dot superlattices by Eu-implantation

Self-assembled GaN quantum dots (QDs) stacked in superlattices (SL) with AlN spacer layers were implanted with Europium ions to fluences of 1013, 1014, and 1015 cm−2. The damage level introduced in the QDs by the implantation stays well below that of thick GaN epilayers. For the lowest fluence, the structural properties remain unchanged after implantation and annealing while for higher fluences the implantation damage causes an expansion of the SL in the [0001] direction which increases with implantation fluence and is only partly reversed after thermal annealing at 1000 °C. Nevertheless, in all cases, the SL quality remains very good after implantation and annealing with Eu ions incorporated preferentially into near-substitutional cation sites. Eu3+ optical activation is achieved after annealing in all samples. In the sample implanted with the lowest fluence, the Eu3+ emission arises mainly from Eu incorporated inside the QDs while for the higher fluences only the emission from Eu inside the AlN-buffer, capping, and spacer layers is observed. © 2010 American Institute of PhysicsFCT-PTDC/CTM/100756/2008program PESSOA EGIDE/GRICESFCT-SFRH/BD/45774/2008FCT-SFRH/BD/44635/200

Cross talk during the periconception period

The cross talk between gametes, embryos, and female reproductive tract plays a crucial role in fine tuning of different reproductive events as well as influencing the epigenetic profile of offspring and their health in adulthood. Here, we describe some background to the recent investigations leading to the discovery of this cross talk. We will also point to important requirements for understanding the maternal communication with gametes and embryos. Finally, we mention two probable hypotheses regarding how gametes and embryos are recognized by the female reproductive tract. It is clear that understanding this cross talk is leading to the production of new means for increasing fertility and potentials for affecting the epigenomic profile of an individual

Effect of annealing on AlN/GaN quantum dot heterostructures: Advanced ion beam characterization and X-ray study of low-dimensional structures

Multilayers consisting of six GaN quantum dot (QD) layers separated by AlN spacer layers were grown by molecular beam epitaxy. Structural properties and the effects of thermal annealing were analyzed using X-ray diffraction (XRD), X-ray reflection (XRR) and Rutherford backscattering spectrometry/Channeling (RBS/C). Annealing was performed in nitrogen atmosphere for 20 min at temperatures between 1000 and 1200 • C. The GaN QDs on the surface were destroyed at temperatures ≥1100 • C while the AlN spacer layers protected the deeper lying QD layers. The multilayer structure was well preserved for all studied temperatures. Indications of interdiffusion in the interfaces were found. Thickness fluctuations were evidenced by XRR

A Comparative Analysis Shows Morphofunctional Differences between the Rat and Mouse Melanin-Concentrating Hormone Systems

Sub-populations of neurons producing melanin-concentrating hormone (MCH) are characterized by distinct projection patterns, birthdates and CART/NK3 expression in rat. Evidence for such sub-populations has not been reported in other species. However, given that genetically engineered mouse lines are now commonly used as experimental models, a better characterization of the anatomy and morphofunctionnal organization of MCH system in this species is then necessary. Combining multiple immunohistochemistry experiments with in situ hybridization, tract tracing or BrdU injections, evidence supporting the hypothesis that rat and mouse MCH systems are not identical was obtained: sub-populations of MCH neurons also exist in mouse, but their relative abundance is different. Furthermore, divergences in the distribution of MCH axons were observed, in particular in the ventromedial hypothalamus. These differences suggest that rat and mouse MCH neurons are differentially involved in anatomical networks that control feeding and the sleep/wake cycle

Single hadron response measurement and calorimeter jet energy scale uncertainty with the ATLAS detector at the LHC

The uncertainty on the calorimeter energy response to jets of particles is derived for the ATLAS experiment at the Large Hadron Collider (LHC). First, the calorimeter response to single isolated charged hadrons is measured and compared to the Monte Carlo simulation using proton-proton collisions at centre-of-mass energies of sqrt(s) = 900 GeV and 7 TeV collected during 2009 and 2010. Then, using the decay of K_s and Lambda particles, the calorimeter response to specific types of particles (positively and negatively charged pions, protons, and anti-protons) is measured and compared to the Monte Carlo predictions. Finally, the jet energy scale uncertainty is determined by propagating the response uncertainty for single charged and neutral particles to jets. The response uncertainty is 2-5% for central isolated hadrons and 1-3% for the final calorimeter jet energy scale.Comment: 24 pages plus author list (36 pages total), 23 figures, 1 table, submitted to European Physical Journal

Measurement of the flavour composition of dijet events in pp collisions at root s=7 TeV with the ATLAS detector

This paper describes a measurement of the flavour composition of dijet events produced in pp collisions at √s=7 TeV using the ATLAS detector. The measurement uses the full 2010 data sample, corresponding to an integrated luminosity of 39 pb−1. Six possible combinations of light, charm and bottom jets are identified in the dijet events, where the jet flavour is defined by the presence of bottom, charm or solely light flavour hadrons in the jet. Kinematic variables, based on the properties of displaced decay vertices and optimised for jet flavour identification, are used in a multidimensional template fit to measure the fractions of these dijet flavour states as functions of the leading jet transverse momentum in the range 40 GeV to 500 GeV and jet rapidity |y|<2.1. The fit results agree with the predictions of leading- and next-to-leading-order calculations, with the exception of the dijet fraction composed of bottom and light flavour jets, which is underestimated by all models at large transverse jet momenta. The ability to identify jets containing two b-hadrons, originating from e.g. gluon splitting, is demonstrated. The difference between bottom jet production rates in leading and subleading jets is consistent with the next-to-leading-order predictions

Search for direct production of charginos and neutralinos in events with three leptons and missing transverse momentum in √s = 7 TeV pp collisions with the ATLAS detector

A search for the direct production of charginos and neutralinos in final states with three electrons or muons and missing transverse momentum is presented. The analysis is based on 4.7 fb−1 of proton–proton collision data delivered by the Large Hadron Collider and recorded with the ATLAS detector. Observations are consistent with Standard Model expectations in three signal regions that are either depleted or enriched in Z-boson decays. Upper limits at 95% confidence level are set in R-parity conserving phenomenological minimal supersymmetric models and in simplified models, significantly extending previous results