Linkage study of the low-density lipoprotein-receptor gene and cholesterol levels in an Afrikaner family : quantitative genetics and identification of a minor founder effect

CITATION: Brink, P. A. et al. 1990. Linkage study of the low-density lipoprotein-receptor gene and cholesterol levels in an Afrikaner family : quantitative genetics and identification of a minor founder effect. South African Medical Journal, 77:292-296.The original publication is available at http://www.samj.org.zaOverlap of clinical and biochemical characteristics between hypercholesterolaemia in members of the general population and familial hypercholesterolaemic (FH) individuals may lead to misdiagnosis. Quantitative analyisis of family data may circumvent this problem. A way of looking for an association between plasma cholesterol levels and restriction fragment length polymorphism markers (RFLP) on the low-density lipoprotein (LDL) receptor gene by using reference cholesterol distributions was explored. Linkage, with a logarithm of the odds (LOD) score of 6,8 at θ 0, was detected between cholesterol levels and the LDL receptor in an extended Afrikaner family. Two RFLP-haplotypes, one previously found in a majority of Afrikaner FH homozygotes, and a second, Stu I -, BstE II +, Pvu II +, Nco I +, were associated with high cholesterol levels in this pedigree.Publisher’s versio

Analytical approximation for the sphere-sphere Coulomb potential

A simple analytical expression, which closely approximates the Coulomb potential between two uniformly charged spheres, is presented. This expression can be used in the optical potential semiclassical analyses which require that the interaction be analytic on and near the real r-axis.Comment: 4 pages including 3 figures and 1 tabl

Semiclassical Analysis of the Wigner 12j12j Symbol with One Small Angular Momentum

We derive an asymptotic formula for the Wigner $12j$ symbol, in the limit of one small and 11 large angular momenta. There are two kinds of asymptotic formulas for the $12j$ symbol with one small angular momentum. We present the first kind of formula in this paper. Our derivation relies on the techniques developed in the semiclassical analysis of the Wigner $9j$ symbol [L. Yu and R. G. Littlejohn, Phys. Rev. A 83, 052114 (2011)], where we used a gauge-invariant form of the multicomponent WKB wave-functions to derive asymptotic formulas for the $9j$ symbol with small and large angular momenta. When applying the same technique to the $12j$ symbol in this paper, we find that the spinor is diagonalized in the direction of an intermediate angular momentum. In addition, we find that the geometry of the derived asymptotic formula for the $12j$ symbol is expressed in terms of the vector diagram for a $9j$ symbol. This illustrates a general geometric connection between asymptotic limits of the various $3nj$ symbols. This work contributes the first known asymptotic formula for the $12j$ symbol to the quantum theory of angular momentum, and serves as a basis for finding asymptotic formulas for the Wigner $15j$ symbol with two small angular momenta.Comment: 15 pages, 14 figure

Quantum Manipulations of Small Josephson Junctions

Low-capacitance Josephson junction arrays in the parameter range where single charges can be controlled are suggested as possible physical realizations of the elements which have been considered in the context of quantum computers. We discuss single and multiple quantum bit systems. The systems are controlled by applied gate voltages, which also allow the necessary manipulation of the quantum states. We estimate that the phase coherence time is sufficiently long for experimental demonstration of the principles of quantum computation.Comment: RevTex, 15 pages,4 postscript figures, uuencoded, submitted to Phys. Rev. Lett., estimates of the experimental parameters correcte

Concepts of alpha-particle condensation

Certain aspects of the recently proposed antisymmetrised alpha particle product state wave function, or THSR alpha cluster wave function, for the description of the ground state in 8Be, the Hoyle state in 12C, and analogous states in heavier nuclei, are elaborated in detail. For instance, the influence of antisymmetrisation in the Hoyle state on the bosonic character of the alpha particles is studied carefully. It is shown to be weak, so that bosonic aspects are predominant. The de Broglie wave length of alpha particles in the Hoyle state is shown to be much larger than the inter-alpha distance. It is pointed out that the bosonic features of low density alpha gas states have measurable consequences, one of which, that is enhanced multi-alpha decay properties, likely already have been detected. Consistent with experiment, the width of the proposed analogue to the Hoyle state in 16O at the excitation energy of E_x=15.1 MeV is estimated to be very small (34 keV), lending credit to the existence of heavier Hoyle-like states. The intrinsic single boson density matrix of a self-bound Bose system can, under physically desirable boundary conditions, be defined unambiguously. One eigenvalue then separates out, being close to the number of alpha's in the system. Differences between Brink and THSR alpha cluster wave functions are worked out. No cluster model of the Brink type can describe the Hoyle state with a single configuration. On the contrary, many superpositions of the Brink type are necessary, implying delocalisation towards an alpha product state. It is shown that single alpha particle orbits in condensates of different nuclei are almost the same. It is thus argued that alpha particle antisymmetrised product states of the THSR type are a very promising novel and useful concept in nuclear physics.Comment: 16 pages, 14 figures, to appear in PR

Multipole strength function of deformed superfluid nuclei made easy

We present an efficient method for calculating strength functions using the finite amplitude method (FAM) for deformed superfluid heavy nuclei within the framework of the nuclear density functional theory. We demonstrate that FAM reproduces strength functions obtained with the fully self-consistent quasi-particle random-phase approximation (QRPA) at a fraction of computational cost. As a demonstration, we compute the isoscalar and isovector monopole strength for strongly deformed configurations in $^{240}$Pu by considering huge quasi-particle QRPA spaces. Our approach to FAM, based on Broyden's iterative procedure, opens the possibility for large-scale calculations of strength distributions in well-bound and weakly bound nuclei across the nuclear landscape.Comment: 5 pages, 3 figure

Hamiltonian and Linear-Space Structure for Damped Oscillators: I. General Theory

The phase space of $N$ damped linear oscillators is endowed with a bilinear map under which the evolution operator is symmetric. This analog of self-adjointness allows properties familiar from conservative systems to be recovered, e.g., eigenvectors are "orthogonal" under the bilinear map and obey sum rules, initial-value problems are readily solved and perturbation theory applies to the_complex_ eigenvalues. These concepts are conveniently represented in a biorthogonal basis.Comment: REVTeX4, 10pp., 1 PS figure. N.B.: `Alec' is my first name, `Maassen van den Brink' my family name. v2: extensive streamlinin

Effect of implanted metal impurities on superconducting tungsten films

The superconducting transition temperature of more than 30 thin-film tungsten samples was measured using a dilution refrigerator. The samples were fabricated using a 99.999% pure tungsten target and a dc magnetron sputtering system. Individual films were then doped with metal impurity ions using an accurate ion implantation technique. The effect of the metal–ion doping on the superconducting transition temperature was measured for samples with superconducting transitions in the range of 40–150 mK. Magnetic dopant species including Ni, Co, and Fe resulted in suppressed values of the tungsten Tc. The suppression was linear with increasing dopant concentration, for concentrations up to tens of ppm. For higher concentrations of magnetic atoms, the data are consistent with the Abrikosov–Gor\u27kov theory [Soviet Physics JETP 12, 1243 (1961)] modified by antiferromagnetic impurity–impurity interactions. By contrast, tungsten films implanted with Mg or Cr showed little change in Tc after doping. In this article, we present data from cryogenic experiments on these films. We also present x-ray diffraction (XRD) spectra for a subset of the films. Our XRD data confirm that the observed suppression in Tc for the magnetically doped samples is not due to any structural changes (e.g., lattice distortion or damage) induced by the implantation process

Kerr Spinning Particle, Strings, and Superparticle Models

A combined model of the Kerr spinning particle and superparticle is considered. The structure of the Kerr geometry is presented in a complex form as being created by a complex source. A natural supergeneralization of this construction is obtained corresponding to a complex "supersource". Peforming a supershift to the Kerr and Kerr-Sen solutions we obtain metrics of supergravity black holes with a nonlinear realization of broken supersymmetry.Comment: minor revision, some grammatical changes and correction of the misprint before eq.(10); 13p., Latex, Talk at the International Seminar "Supersymmetry and quantum field theory" dedicated to the memory of D.V.Volkov, Kharkov, January 199