Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1

The genetic basis of myotonic dystrophy type 1 (DM1) is the expansion of a CTG repeat in the 3' untranslated region of DM1PK . Once into the disease range, the repeat becomes highly unstable and is biased toward expansion in both somatic and germline tissues. Intergenerational differences usually reveal an increase in allele length, concordant with the clinical anticipation characteristic of DM1, but there have also been cases with intergenerational contractions of the repeat length, accompanied by apparent anticipation. In order to gain a better understanding of this intergenerational behaviour, we have obtained semen samples from six DM males and used single molecule analyses to compare the allele distributions present in their sperm and blood with those of their offspring. We have confirmed that the male germline mutational pathway is distinct from that of the soma, but the extent of variation is highly variable from one individual to another and not obviously correlated with progenitor allele length. Nonetheless, in all cases the alleles present in the father's sperm overlap with those observed in their offspring. These data also provide further indications that the interpretation of intergenerational transmissions by standard analyses is frequently compromised by the masking of germline differences by age-dependent somatic expansion in the parent

Surface EM waves on 1D Photonic Crystals

We study surface states of 1D photonic crystals using a semiclassical coupled wave theory. Both TE and TM modes are treated. We derive analytic approximations that clarify the systematics of the dispersion relations, and the roles of the various parameters defining the crystal.Comment: 7 pages, 8 figure

A model for single electron decays from a strongly isolated quantum dot

Recent measurements of electron escape from a non-equilibrium charged quantum dot are interpreted within a 2D separable model. The confining potential is derived from 3D self-consistent Poisson-Thomas-Fermi calculations. It is found that the sequence of decay lifetimes provides a sensitive test of the confining potential and its dependence on electron occupation.Comment: 9 pages, 10 figure

Enhanced observability of quantum post-exponential decay using distant detectors

We study the elusive transition from exponential to post-exponential (algebraic) decay of the probability density of a quantum particle emitted by an exponentially decaying source, in one dimension. The main finding is that the probability density at the transition time, and thus its observability, increases with the distance of the detector from the source, up to a critical distance beyond which exponential decay is no longer observed. Solvable models provide explicit expressions for the dependence of the transition on resonance and observational parameters, facilitating the choice of optimal conditions

Classical picture of post-exponential decay

Post-exponential decay of the probability density of a quantum particle leaving a trap can be reproduced accurately, except for interference oscillations at the transition to the post-exponential regime, by means of an ensemble of classical particles emitted with constant probability per unit time and the same half-life as the quantum system. The energy distribution of the ensemble is chosen to be identical to the quantum distribution, and the classical point source is located at the scattering length of the corresponding quantum system. A 1D example is provided to illustrate the general argument

Biperiodic superlattices and the transparent state

Coquelin et al. studied biperiodic semiconductor superlattices, which consist of alternating cell types, one with wide wells and the other narrow wells, separated by equal strength barriers. If the wells were identical, it would be a simply periodic system of $N = 2n$ half-cells. When asymmetry is introduced, an allowed band splits at the Bragg point into two disjoint allowed bands. The Bragg resonance turns into a transparent state located close to the band edge of the lower(upper) band when the first(second) well is the wider. Analysis of this system gives insight into how band splitting occurs. Further we consider semi-periodic systems having $N= 2n+1$ half-cells. Surprisingly these have very different transmission properties, with an envelope of maximum transmission probability that crosses the envelope of minima at the transparent point.Comment: 12 pages, 10 figures Version 2: improved figures using colour, and some small improvements in the text, in response to referee comments Version 3: incorporates changes which arose in proofs stag