bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic fitness in Huntington's Disease and Spinocerebellar Ataxia 1: a population genetics model for CAG repeat expansions
Authors: FRONTALI M. , SABBADINI G. , NOVELLETTO A. , JODICE C. , NASO F. , SPADARO M. , GIUNTI P. , JACOPINI A. G. , VENEZIANO L. , MANTUANO E. , MALASPPNA P. , ULIZZI L. , BRICE A. , DURR A. , TERRENATO L. 
Published: September 2007

SUMMARYAn analysis of genetic fitness was performed in Huntington's Disease (HD) and Spinocerebellar Ataxia 1 (SCA1) families. Two partially overlapping samples were used: clinically defined HD and SCA1 patients from families ascertained in definite geographical areas, and molecularly typed carriers of HD and SCA1 mutations (CAG trinucleotide expansions). In both cases, a control group of normal relatives was used. HD and SCA1 patients born before 1915–20 had more children than normal controls. Carriers of HD and SCA1 mutations, all in the low/medium expansion range (37–49 and 47–54 CAG repeats respectively), had a higher number of children than controls up to more recent times (1935–1950). The reproduction of heterozygotes for large expansions could be analysed only in subjects born after 1950 and provided indirect evidence of a lower than normal number of children. The above results fit a model based on a differential fitness according to the degree of expansion. Such a model predicts that 1) up to relatively recently the frequency of alleles in the low/medium range has been maintained or even increased by the increased fitness of their carriers, as well as by new mutations, and 2) the frequency of large expansions, part of which are lost at each generation, is maintained through further expansions of alleles in the low/medium expansion range. The implications of such a model on linkage disequilibrium and the possible spread of these diseases in future generations are discussed.
Genetic analysis of Sardinia: I. Data on 12 polymorphisms in 21 linguistic domains
Authors: CAPPELLO N. , RENDINE S. , GRIFFO R. , MAMELI G. E. , SUCCA V. , VONA G. , PIAZZA A. 
Published: September 2007

Summary(1) The microgeographic structure of Sardinia, well documented from a historical and linguistic point of view, further supported by archaeological evidence, can also be dissected at the genetic level: gene frequencies show heterogeneities which are statistically significant.(2) Dendrogram analyses performed with different methods lead to the same result: even if gene frequencies cluster linguistically defined geographic domains in agreement with historical and archaeological evidence, no phylogenetic tree can be inferred, very likely because the assumptions which allow a phylogenetic tree to be a valid model of evolution (mainly constant evolutionary rates and independence between branches) do not apply to the genetic history of Sardinia.(3) Evidence of a qualitative association between distribution of genes and distribution of languages or dialects seems to emerge also at the microgeographic level of our analysis. More linguistic and genetic data are planned to be considered.
Genetic relationship between the Canary Islanders and their African and Spanish ancestors inferred from mitochondrial DNA sequences
Authors: PINTO F. , GONZÁLEZ A. M. , HERNáNDEZ M. , LARRUGA J. M. , CABRERA V. M. 
Published: September 2007

SummaryNucleotide sequences of the hypervariable segment I of the control region of the mtDNA were determined in 101 individuals: 54 Canary Islanders, 18 North African Berbers, 18 Spanish mainlanders and 11 sub‐Saharan Guineans. In spite of the fact that only members of the Fang tribe were analysed, nucleotide diversity in Guineans (θ× 100 = 2·33)is one of the highest found in African populations.Estimates of genetic contribution to the Canarians from their putative parental populations based on mtDNA (43·25 ± 1·38% Berbers, 35·54 ± 0·55% Spanish, 21·21 ± 1·92% Guineans) showed an important North African substrate. These mtDNA results, when compared with data based on nuclear markers, point to a strong male‐female asymmetry, 75% of the Spanish nuclear contribution was due to males and practically all the Berber and Guinean was due to females. These results are in agreement with the way that the Canary Islands were conquered.Pairwise difference distributions in Guineans and Berbers are compatible with the model of populations in expansion. Departures from a Poisson distribution for the Canarians and Spanish can be explained by admixture and the way of sampling respectively.
Pairwise analysis of radiation hybrid mapping data
Authors: JONES H. B. 
Published: September 2007

SummaryTwo point lod scores are widely used in pedigree analysis as they provide a fast and efficient method of establishing linkage. Groups of markers that lie in close proximity to one another can be formed by admitting any locus that is linked to at least one existing member of the group with lod score greater than some predetermined value. It seems natural to extend this technique to Radiation Hybrid Mapping both for constructing groups of tightly linked loci that may then be analysed using more powerful statistics and as a method of ordering in its own right.A general extension of two point analysis is derived and the problems associated with radiation hybrid data are discussed. In particular, the additional parameters representing the probabilities of different fragments being retained (which have no parallel in classical linkage analysis) lead to a range of estimators of the breakage probability, θ, which have equal and maximal likelihood. Ways of circumventing this problem are discussed along with the potential errors they introduce.Importantly the ambiguity in estimation of θ is not carried through to the lod score as this depends only on the maximum value of the likelihood and not on the particular value of θ at which it occurs. Thus even though two point analysis fails to provide robust estimates of either breakage probabilities or the distance between loci, it represents a simple and effective method of constructing linkage groups that may be analysed with more powerful statistical methods. This is particularly important given the large number of microsatellites, ESTs and candidate genes currently being typed on radiation hybrids.
Apolipoprotein E genotype ε4/ε2 in the STANISLAS Cohort Study ‐ Dominance of the ε2 allele ?
Authors: BOHNET K. , REGIS‐BAILLY A. , VINCENT‐VIRY M. , SCHLENCK A. , GUEGUEN R. , SIEST G. , VISVIKIS S. 
Published: September 2007

SummaryApolipoprotein (apo) E has been discussed as a marker for cardiovascular risk, but information about lipid traits in healthy individuals having one of the rare apoE genotypes (ε4/ε2, ε2/ε2 or ε4/ε4) is scarce. Our work was designed to answer the following questions: 1. Are the allelic effects of ε2 and ε4 on lipid traits additive or dominant? 2. If there is additivity, do the allelic effects of ε2 and ε4 have the same magnitude? 3. Are the allelic effects neutralised in ε4/ε2 individuals who are under the influence of both rare alleles?Allelic effects on apoB and apoE serum levels were codominant. Allelic models are thus not adequate to study the influence of apoE polymorphism on these traits. Allelic effects were additive for total cholesterol, LDL‐C, HDL‐C and apoAI, with ε2 having a greater impact than ε4. Serum levels differed significantly between ε4/ε2 and ε3/ε3 individuals only for apoE (p < 0ε001) and for apoB (p < 0ε05).
Arylsulfatase A Variants in Patients with Alcoholism
Authors: Hulyalkar Atul R. , Nora Rena , Manowitz Paul 
Published: September 2007

Leukocytes from 200 mentally ill patients and 100 normal controls were analyzed for eiectrophoretic variants of arylsulfatase A. Four different variant forms were found in 15 subjects. There is a relatively high occurrence of the arylsulfatase A variants in patients with alcoholism. Twenty‐one per cent (12/56) of patients with alcoholism have a variant enzyme. Only one of the 100 normal controls has a variant enzyme. (This single subject was considered normal by the criteria of the study, namely, a self‐report of no current medical problem or psychiatric history. However, upon further testing, it was found that this subject has neurological and neuropsychological deficits.)The hypothesis is presented that chronic alcohol intake and abnormal arylsulfatase A act in concert to elevate sulfatide levels which results in abnormalities of brain function. If this hypothesis is correct, persons in whom abnormal arylsulfatase A is expressed may be at risk to the neuropathological effects of alcohol.
Engineering aspects of periglacial features in Britain
Authors: Higginbottom Ian Elliot , Fookes Peter George 
Published: September 2007

Summary
The paper deals with ground effects resulting from snow and frost outside the margins of the ice sheets during the Quaternary ice ages. This environment, termed 'periglacial', is defined and the main classes of periglacial and related phenomena found fossil in Britain are classified and described, under the headings of superficial structural disturbances, mass movements, and periglacial deposits and their properties. The geotechnical aspects of each are described and illustrated with case histories. The paper concludes by reviewing, with examples, site investigation techniques appropriate to British periglacial problems.
The advantages and limitations of geoelectrical methods in the foundation investigation of the tracked hovercraft experimental site in Cambridgeshire
Authors: McDowell Peter William 
Published: September 2007

Summary
An electrical resistivity survey showed that the foundation conditions were more complicated than indicated by preliminary borehole information. The results of resistivity traversing, which was completed in a few days at comparatively little cost, clearly indicated that a sand and gravel layer, which had been proved at each borehole, was absent from at least one third of the site. Also, resistivity depth probes enabled the thickness of peat and soft clay, overlying the sand and gravel layer, to be calculated with remarkable accuracy. The problems of determining the thickness of the sand and gravel with suitable accuracy and of distinguishing silt from sand and gravel were unfortunately not resolved by these geoelectrical methods.
The influence of superficial deposits on groundwater quality in the Vale of York
Authors: Spears D. A. , Reeves M. J. 
Published: September 2007

Summary
Borehole samples were obtained from the glacial, lacustrine and fluviatile sands and clays which overlie the Permo-Triassic sandstone aquifer in the Vale of York. Mineralogical and chemical analyses were undertaken for 26 samples from which pore water was also extracted and analysed. Ion concentrations in pore water were found to change as a function of depth and permeability. Most of the ions present in pore water are thought to be derived from the drift and the source minerals have been identified. The superficial deposits are thought to have an important influence on the chemistry of ground water in the underlying Permo-Triassic sandstones.
Comparison with ground water from similar aquifers, but drift free, indicates that in these cases the sandstone exerts an important influence on ground water chemistry.
Detection of clay filled sink-holes in the chalk by geophysical methods
Authors: McDowell P. W. 
Published: September 2007

Summary
The significance of sink-holes in chalk to engineering structures is introduced and the available techniques for locating these features are briefly reviewed. Particular consideration is given to the rapid and relatively inexpensive geophysical techniques that are available.
The main text is concerned with clay-filled sink-holes, which are common in chalk areas, particularly in Southern England. The site of a large engineering structure, where drilling had indicated the presence of clay infilled sink-holes, has been used to compare the appropriate geophysical methods, and also to develop suitable field procedures. It was found that the magnetic method could locate and delimit the clay filled sink-holes very rapidly. The central electrode configuration was the most suitable for electrical resistivity traversing.
The cost and effectiveness of these geophysical methods, compared with conventional drilling, supports a combined approach to the site investigation.
A study of fresh water lens configuration in the Cayman Islands using resistivity methods
Authors: Bugg Stephen Fredrick , Lloyd John William 
Published: September 2007

Summary
The problems of identifying the base of fresh water lenses in oceanic islands are discussed. A study carried out in the Cayman Islands is described in which the lens base is defined in relation to potable water standards and mapped using surface resistivity measurements with salinity profile controls in boreholes. Using depth-salinity ratios the piezometric surface is then determined. The technique is considered to provide a reliable cheap and rapid method of obtaining lens geometry in oceanic islands particularly where fairly homogeneous lithologies are present.
Threshold slopes in South Wales
Authors: Rouse W. Colin , Farhan Yahya I. 
Published: September 2007

Summary

The uniformity of the valley-side slope, in the dissected landscape of South Wales, might be interpreted in terms of rapid mass movement. Many samples of the debris mantle were taken from the test area to establish the engineering properties. The residual strength (φ′
r
= 35.3°) and saturated unit weight (γ
s
= 17.4 kN/m
3
) were incorporated into a model of shallow sliding and gave threshold slopes of 35.3° (dry state) and 17.2° (saturated state). The slopes were randomly sampled to create a frequency distribution with a population mean for valley-side slope of 15.5° < μ < 17.8° equivalent to the limiting angle, so that rapid mass movement is important in interpreting valley side slope. The modes on the frequency distribution were also interpreted in terms of threshold values for mass movement processes and a comparison made with results from other environments. It is possible to interpret most of the British landscape as a relic feature of glacial, periglacial and mass movement processes superficially modified by current processes.
Some observations on surface instability associated with coal deposits in South Sumatra
Authors: Walton G. , Gunawan R. 
Published: September 2007

Introduction
Recent exploration of Indonesian government coal concessions in South Sumatra by Shell Mijnbouw N.V. has revealed small-scale surface instability of recent origin, which could be important with respect to the construction of large spoil dumps.
The area of interest lies 145 km south-west of Palembang where Mio-Pliocene coals of the Muara Enim formation outcrop in country around Tanjung Enim. These coal seams and the related coal-bearing strata of claystones, siltstones, and sandstones are gently folded and faulted having dips in the range of 5°-30°. In places, the sediments are intruded by andesites which have locally upgraded the coal to anthracite or semi-anthracite, although away from the intrusions the coals have a semi-lignitic or sub-bituminous aspect.
Irrespective of the degree of alteration, the coals are frequently more competent than the associated strata and outcrop as the cap rocks to escarpments and waterfalls. Preliminary sampling of three coal seams in one such setting took place along the valley of the Air Muara Tiga. A series of trenches up to 90 m long were dug down the valley slopes to depths of 3–6 m. The location of the coal seams, a generalized geological sequence, and the positions of the trenches referred to in this note (A and B) are shown in Fig. 1. The side slopes to this strike valley are convex with gradients increasing downwards from 3° to 45°, although much of the slope is inclined at 12° –16°. The local vegetation consists of secondary jungle, giving way to tropical grasses (alang
Rock grouting and water testing at Kielder Dam, Northumberland
Authors: Bruce Donald A. , Millmore James P. 
Published: September 2007

Summary

A cement grout curtain has been formed in the North Abutment bedrock of Kielder Dam in Northumberland. In order to gauge the effectiveness of the grouting, a series of pre- and post-grouting Lugeon water tests were conducted in special control holes. This programme was executed according to proposals made in this journal on Lugeon testing (
Houlsby 1976
), which have now gained world-wide acclaim and acceptance. The paper demonstrates clearly both the practicality of the method and the usefulness of the results. Safe grouting pressures were selected following hydrofracture tests, again using similar methods. Data on curtain grouting design, execution and analysis are also provided, and fundamental observations made on the relationship of water takes and cement grout consumptions.
The hydrogeology of the Lee Valley and some effects of artificial recharge
Authors: Flavin R. J. , Joseph J. B. 
Published: September 2007

Summary
The Chalk and overlying Tertiary sands of the London Basin comprise the aquifer system of a classical artesian basin, confined and underlain by the London Clay and the marls of the Lower Chalk, respectively. The piezometric surface was at or near ground level until extensive over-abstraction dewatered the aquifer system. Experimental artificial recharge has been carried out in the Lee Valley at three different periods since the 1890's, the most recent experiments leading directly to a full-scale operational recharge scheme.
Groundwater quality throughout the area shows considerable natural variation, closely related to the geology. The major dewatering and more recent refilling of the aquifer have led to various regional and local changes in groundwater quality, and these are discussed in relation to the hydrogeology of the system. The experimental and prototype recharge schemes have shown that large-scale, artificial recharge of this multiple aquifer system is a viable proposition; effects on groundwater quality are generally negligible except locally at two sites, where slight problems have been encountered, but these may only be temporary.
Field measurements with microcomputers in soils and rocks
Authors: Coatsworth Andrew Michael , Corke David Julian , Finn Philip Stephen , Jones Alun Price 
Published: September 2007

Summary

Four field applications of microcomputers are described: (i) a microcomputer system has been developed which allows inclinometer readings to be processed and plotted; (ii) system to monitor and analyse pressuremeter tests uses a microcomputer-based ‘autonomous data acquisition unit’ to log the data, which are simultaneously manipulated, and the results displayed on the graphics screen of a separate microcomputer without interfering with the data logging; (iii) seismic signals are logged by a microcomputer, on which the data can subsequently be processed; (iv) a data logging system has been developed for use with the CSIRO cell to carry out
in situ
measurements of rock stresses, with an on-site microcomputer plotting and analysing the strain measurements to give the complete stress tensor immediately following overcoring. By using microcomputers not only to collect but also to analyse data in the field, a programme of field tests and also the conduct of individual tests can be improved.
Microcomputers in laboratory testing and the assessment of site investigation data
Authors: Atkinson Michael Sidney , Coatsworth Andrew Michael , Eldred Peter John Lee 
Published: September 2007

Summary
Microcomputers can be used in laboratory testing either for data logging alone or for both data logging and controlling a test. For such applications a microcomputer should possess a larger memory than may be envisaged at the planning stage and incorporate a real-time clock. A full range of interfaces and peripherals should be available. Consideration should be given to built-in obsolescence and the manufacturer's support of the microcomputer. Soil testing with the aid of a microcomputer is a real-time activity; a stable power supply, appropriate software and physical protection are essential.
A database program to aid the selection of design parameters is described; basic field and laboratory data can be stored and subjected to simple manipulations. Both the stored and manipulated data can be selectively plotted. An example of its use in assessing the undrained shear strength of a glacial clay is described. Single entry of the data and a less biased assessment based on all possibly useful data combinations are advantages of the microcomputer approach. Significant time and cost savings can result.
Fracture analysis from borehole geophysical techniques in crystalline rocks
Authors: McEwen T. J. , McCann D. M. , Shedlock S. 
Published: September 2007

Summary
Geophysical borehole logging data from three 300 m boreholes in the Strath Halladale Granite in northeast Scotland have been analysed in terms of fracture delineation. The geophysical techniques which were found to be of most use in determining the location, nature and orientation of fractures are outlined, and the results used for defining fracture indices for the rock mass. A comparison is made between different fracture indices, and a simple geotechnical assessment of the rock mass is made using fracture measurements, on the complete core, and dynamic values of the bulk modules. Specific sections of the core material are compared with the responses of the geophysical sondes to illustrate the use of borehole geophysics in determining fracturing of the rock. Potential flow zones predicted from neutron and gamma-gamma logging are compared with those measured by temperature/conductivity logging, and are related to the fracturing of the rock and to its hydraulic conductivity.
Seismic spectroscopy in fracture characterization
Authors: Young R. P. , Hill J. J. , Bryan I. R. , Middleton R. 
Published: September 2007

Summary
Characterization of fractures is an important factor in the assessment of the quality and strength of rock masses. Conventional seismic techniques of quantifying the broken-ness of rocks have concentrated on the use of velocity, but this has not resulted in unique interpretations. As part of a research project to assess fracturing in rock masses on opencast coal sites, empirical correlations are being developed which relate fracture characteristics to the attenuation of seismic signals.
An experimental programme into the design of efficient blasting/fragmentation systems in opencast mining is outlined. The programme involves the seismic assessment of rock brokenness before and after blasting, together with the associated ground vibrations and excavation process, in order to optimize blast fragmentation efficiency. The results show that the fragmentation efficiency of a mine blast can be quantified in terms of 3-D seismic attenuation spectra and polar anisotropy diagrams. These 3-D spectra and polar plots from a sequence of seismic experiments are then correlated with 3-D excavation efficiency profiles, blast and ground vibration spectral data in the optimization study. A data case study is given to highlight the scope of the data collected and the type of multivariate statistical analysis methods used.
Natural and artificial cavities as ground engineering hazards
Authors: Culshaw M. G. , Waltham A. C. 
Published: September 2007

Abstract
The occurrences of natural and artificial cavities are reviewed and their causes are assessed. Natural cavities are found principally in carbonate rocks and the processes of sinkhole formation are described. Solution cavities in non-carbonate rocks and cavities in insoluble rocks are also considered. Extraction methods for coal, metalliferous minerals and salts are described in relation to the creation of underground cavities. An outline procedure for locating cavities emphasizes the importance of the desk study in this type of investigation and the difficulty of proving the absence of cavities beneath a site.