The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations

Classical or transferase-deficient galactosaemia is an inherited metabolic disorder caused by mutation in the human Galactose-1-phosphate uridyl transferase (GALT) gene. Of some 170 causative mutations reported, fewer than 10% are observed in more than one geographic region or ethnic group. To better understand the population history of the common GALT mutations, we have established a haplotyping system for the GALT locus incorporating eight single nucleotide polymorphisms and three short tandem repeat markers. We analysed haplotypes associated with the three most frequent GALT gene mutations, Q188R, K285N and Duarte-2 (D2), and estimated their age. Haplotype diversity, in conjunction with measures of genetic diversity and of linkage disequilibrium, indicated that Q188R and K285N are European mutations. The Q188R mutation arose in central Europe within the last 20 000 years, with its observed east-west cline of increasing relative allele frequency possibly being due to population expansion during the re-colonization of Europe by Homo sapiens in the Mesolithic age. K285N was found to be a younger mutation that originated in Eastern Europe and is probably more geographically restricted as it arose after all major European population expansions. The D2 variant was found to be an ancient mutation that originated before the expansion of Homo sapiens out of Africa. Heredity (2010) 104, 148-154; doi:10.1038/hdy.2009.84; published online 29 July 2009

The size distribution of Jupiter Family comet nuclei

We present an updated cumulative size distribution (CSD) for Jupiter Family comet (JFC) nuclei, including a rigorous assessment of the uncertainty on the slope of the CSD. The CSD is expressed as a power law, N(>rN) ?r-qN, where rN is the radius of the nuclei and q is the slope. We include a large number of optical observations published by us and others since the comprehensive review in the Comets II book, and make use of an improved fitting method. We assess the uncertainty on the CSD due to all of the unknowns and uncertainties involved (photometric uncertainty, assumed phase function, albedo and shape of the nucleus) by means of Monte Carlo simulations. In order to do this we also briefly review the current measurements of these parameters for JFCs. Our final CSD has a slope q= 1.92 ± 0.20 for nuclei with radius rN= 1.25 km.

BURST-SIZE DISTRIBUTION IN FIBER-BUNDLES WITH LOCAL LOAD-SHARING

A critical load x(c) is introduced into the fiber-bundle model with local load-sharing. The critical load is defined as the average load per fiber that causes the final complete failure. It is shown that x(c) --> 0 when the size of the system N --> infinity. A power law for the burst-size distribution, D(DELTA) is-proportional-to DELTA(-xi) is approximately correct. The exponent xi is not universal, since it depends on the strength distribution as well as the size of the system.

Polar distribution of ablated atomic material during the pulsed laser deposition of Cu in vacuum: Dependence on focused laser spot size and power density

Experiments have been carried out to investigate the polar distribution of atomic material ablated during the pulsed laser deposition of Cu in vacuum. Data were obtained as functions of focused laser spot size and power density. Thin films were deposited onto flat glass substrates and thickness profiles were transformed into polar atomic flux distributions of the form f(theta)=cos(n) theta. At constant focused laser power density on target, I=4.7+/-0.3X10(8) W/cm(2), polar distributions were found to broaden with a reduction in the focused laser spot size. The polar distribution exponent n varied from 15+/-2 to 7+/-1 for focused laser spot diameter variation from 2.5 to 1.4 mm, respectively, with the laser beam exhibiting a circular aspect on target. With the focused laser spot size held constant at phi=1.8 mm, polar distributions were observed to broaden with a reduction in the focused laser power density on target, with the associated polar distribution exponent n varying from 13+/-1.5 to 8+/-1 for focused laser power density variation from 8.3+/-0.3X10(8) to 2.2+/-0.1X10(8) W/cm(2) respectively. Data were compared with an analytical model available within the literature, which correctly predicts broadening of the polar distribution with a reduction in focused laser spot size and with a reduction in focused laser power density, although the experimentally observed magnitude was greater than that predicted in both cases. (C) 1996 American Institute of Physics.

Structure observed in measured electron energy distribution functions in capacitively coupled radio frequency hydrogen plasmas

Electron energy probability functions measured with a passively compensated Langmuir probe in asymmetric capacitively coupled hydrogen and deuterium plasmas exhibit structure. The otherwise relatively continuous distribution appears to have an abrupt peak in electron density near 5 eV. This structure occurs at a higher energy in deuterium than hydrogen and there is a correlation between floating potential and the voltage at which the structure is observed in the second derivative of the I(V) characteristic. While the cause of the structure has yet to be clarified, spectroscopic observations and computer-based hydrogen models indicate that the high energy tail of the distribution is strongly modulated during the radio frequency cycle. The effect of this modulation on plasma properties and probe measurements has yet to be explored. (C) 1999 American Institute of Physics. [S0003-6951(99)00819-0].

Frequency and distribution of group I intron genotypes of Candida albicans colonising critically ill patients

A study is performed to examine the distribution and frequency of 25S rRNA intron genotypes of Candida albicans isolated from different anatomical sites of patients in an intensive care unit (ICU) setting. Germ-tube positive Candida isolates (n=65) from 65 patients are included and isolates are characterised by 25S intron genotyping, whereby all can be subdivided into four genotypes (A-D). Results demonstrated that there were no significant differences between the frequency and genotype distribution of the Candida isolates and the anatomical site of colonisation. Furthermore, analysis of the transposable intron region in the 25S rRNA gene demonstrated equal distribution, regardless of age and anatomical site of isolation (groin, throat, etc.). Therefore, there does not appear to be any selective pressure associated with any anatomical site, resulting in an ecological shift in the frequency of genotypes present. This suggests that C. albicans intron genotypes equally colonise those sites of the body examined in this study. Although such an ecological finding as this is interesting, it perpetuates the continued need to find a genotypic typing scheme that helps to identify the source (nosocomial or endogenous) and mode of entry of C. albicans into patients in the ICU setting, resulting in C. albicans bloodstream infection.

Thermal properties, sizes, and size distribution of Jupiter-family cometary nuclei

We present results from SEPPCoN, an on-going Survey of the Ensemble Physical Properties of Cometary Nuclei. In this report we discuss mid-infrared measurements of the thermal emission from 89 nuclei of Jupiter-family comets (JFCs). All data were obtained in 2006 and 2007 using imaging capabilities of the Spitzer Space Telescope. The comets were typically 4-5 AU from the Sun when observed and most showed only a point-source with little or no extended emission from dust. For those comets showing dust, we used image processing to photometrically extract the nuclei. For all 89 comets, we present new effective radii, and for 57 comets we present beaming parameters. Thus our survey provides the largest compilation of radiometrically-derived physical properties of nuclei to date. We have six main conclusions: (a) The average beaming parameter of the JFC population is 1.03 ± 0.11, consistent with unity; coupled with the large distance of the nuclei from the Sun, this indicates that most nuclei have Tempel 1-like thermal inertia. Only two of the 57 nuclei had outlying values (in a statistical sense) of infrared beaming. (b) The known JFC population is not complete even at 3 km radius, and even for comets that approach to ˜2 AU from the Sun and so ought to be more discoverable. Several recently-discovered comets in our survey have small perihelia and large (above ˜2 km) radii. (c) With our radii, we derive an independent estimate of the JFC nuclear cumulative size distribution (CSD), and we find that it has a power-law slope of around -1.9, with the exact value depending on the bounds in radius. (d) This power-law is close to that derived by others from visible-wavelength observations that assume a fixed geometric albedo, suggesting that there is no strong dependence of geometric albedo with radius. (e) The observed CSD shows a hint of structure with an excess of comets with radii 3-6 km. (f) Our CSD is consistent with the idea that the intrinsic size distribution of the JFC population is not a simple power-law and lacks many sub-kilometer objects.

Effective grain size distribution analysis for interpretation of tidal-deltaic facies: West Bengal Sundarbans

Research over the past two decades on the Holocene sediments from the tide dominated west side of the lower Ganges delta has focussed on constraining the sedimentary environment through grain size distributions (GSD). GSD has traditionally been assessed through the use of probability density function (PDF) methods (e.g. log-normal, log skew-Laplace functions), but these approaches do not acknowledge the compositional nature of the data, which may compromise outcomes in lithofacies interpretations. The use of PDF approaches in GSD analysis poses a series of challenges for the development of lithofacies models, such as equifinal distribution coefficients and obscuring the empirical data variability. In this study a methodological framework for characterising GSD is presented through compositional data analysis (CODA) plus a multivariate statistical framework. This provides a statistically robust analysis of the fine tidal estuary sediments from the West Bengal Sundarbans, relative to alternative PDF approaches.

The size distribution of Jupiter Family comets

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