bluuebunny/crossref_metadata_2025_split huggingface dataset:
Analysis of CAG trinucleotide repeats from mouse cDNA sequences
Authors: ABBOTT C. , CHAMBERS D. 
Published: September 2007

SUMMARYA number of human single gene disorders are now known to result from abnormal expansion of trinucleotide repeats. Spinal muscular bulbar atrophy, myotonic dystrophy, Huntington's Disease, spinocerebellar ataxia and dentatorubral‐pallidoluysian atrophy are all caused by expansions of CAG repeats. Abnormal expansion of trinucleotide repeats has only so far been described in humans, and no mouse models exist for these diseases. In order to investigate trinucleotide repeat stability in mice, the Genbank and EMBL nucleotide databases were screened to find genes containing CAG repeats. Of the sequences selected, 32 were from mouse, and in 12 of these the repeat was in transcribed sequence and contained at least seven perfect repeats. These repeats were then analysed by PCR to evaluate the degree of variability of repeat length in the various genes. Two of the genes containing variable length CAG repeats, seven in absentia homologue 1b (Sinh1b), and choline acetyl transferase (Chat), which had not previously been mapped in the mouse genome, were mapped by linkage analysis in an interspecific backcross. Sinh1b maps very distally on the X chromosome, and Chat maps to chromosome 14.
Frequent normal allele loss and maternal origin of the mutation shown by DNA homoduplex analysis in a severely affected patient with adenomatous polyposis coli
Authors: GAYTHER S. A. , REES M. , DELHANTY J. D. A. 
Published: September 2007

SUMMARYAn atypically high frequency of loss of heterozygosity at chromosome 5q22 in small adenomas from a severely affected new mutation patient with adenomatous polyposis coli was recently reported. DNA homoduplex analysis has now been used to show that the deletion in the adenomas extends to include the APC locus and that the normal allele is lost. These data also prove the maternal origin of the mutation.
Using risk calculation to implement an extended relative pair analysis
Authors: CURTIS D. , SHAM P. C. 
Published: September 2007

SUMMARYA new nonparametric method of linkage analysis is described based on identity by descent relationships between all pairs of affected relatives within a pedigree. This approach is an extension of ESPA, which only uses information from pairs of affected siblings. The new method, called ERPA, uses the risk calculation facilities of the LINKAGE programs to obtain the necessary information in a fashion which is simple to implement and which automatically generalizes to allow for marker loci which may be multiple, non‐codominant and sex‐linked. We have investigated the relative performance of ERPA, ESPA and the lod score method on simulated data. ERPA appears to be more sensitive than ESPA for detecting linkage in pedigrees with small sibships, though both nonparametric methods are inferior to the lod score method when the true mode of transmission can be specified.
Evidence of mitochondrial DNA diversity in South American aboriginals
Authors: MONSALVE M. V. , RESTREPO H. GROOT de , ESPINEL A. , CORREAL G. , DEVINE D. V. 
Published: September 2007

SUMMARYThe absence in South American aboriginals of an Asian‐specific marker, a 9‐bp deletion between the genes for the second subunit of cytochrome oxidase II and lysine transfer RNA in region V, has been interpreted as a bottlenecking effect at the Isthmus of Panama during the peopling of the Americas. We screened mitochondrial DNA (mtDNA) for this 9‐bp tandem repeat and for polymorphisms in specific regions of the mtDNA in 2 ancient and 31 contemporary samples from South American aboriginals. We found additional (mtDNA) diversity in South American aboriginals in three ways. First, an Asian‐specific marker not previously reported in South American aboriginals was identified by a sequencing analysis in both the contemporary Andean and Amazonian aboriginal peoples. Second, two new haplotypes so far unique to South American aboriginals were found. Additionally, we show that South American aboriginals fall into discrete populations. These results suggest that the prehistoric colonization of South America is the outcome of multiple migrations; the data do not support a bottlenecking effect at the Isthmus of Panama.
Genetic epidemiology of hereditary non‐polyposis colorectal cancer syndromes in Modena, Italy: results of a complex segregation analysis
Authors: SCAPOLI C. , LEON M. PONZ DE , SASSATELLI R. , BENATTI P. , RONCUCCI L. , COLLINS A. , MORTON N. E. , BARRAI I. 
Published: September 2007

SUMMARYComplex segregation analysis was conducted in a series of patients with hereditary non‐polyposis colorectal cancer (HNPCC) ascertained through probands registered in the Cancer Registry of the Health Care District of Modena in Northern Italy. Altogether there were 71 nuclear families segregating for HNPCC in 28 pedigrees. The analysis favoured the two‐loci model, in which the segregation at the major locus is compatible with codominant transmission with a frequency of 0·0044 for the high‐risk allele for HNPCC and a lifetime penetrance of 0·728 for heterozygotes.
Cladistic analysis of the apolipoprotein AI‐CIH‐AIV gene cluster using a healthy French Canadian sample. I. Haploid analysis
Authors: HAVILAND M. B. , KESSLING A. M. , DAVIGNON J. , SING C. F. 
Published: September 2007

SUMMARYA cladistic analysis was carried out to identify haplotypes hypothesized to differ for functional DNA sequence variations within the apolipoprotein (apo) AI‐CIII‐AIV gene cluster that affect plasma lipid, lipoprotein and apolipoprotein levels. A sample of unrelated healthy French Canadians was studied. First, a cladogram of the observed apo AI‐CIII‐AIV haplotypes was estimated. Then this cladogram was used to define a statistical analysis of the association between haplotype variation and variation in plasma lipid, lipoprotein and apolipoprotein levels. Three haplotypes were identified which were associated with small (5–12% of the total sum of squares) pleiotropic effects on plasma lipid, lipoprotein and apolipoprotein traits and these effects were context, i.e. gender, dependent.
Evolutionary dynamics of the FMR1 locus
Authors: MORRIS A. , MORTON N. E. , COLLINS A. , LAWRENCE S. , MACPHERSON J. N. 
Published: September 2007

SUMMARYRare haplotypes for close flanking markers are associated with increased allele size and frequency of the fragile X mutation. Exceptional founder haplotypes can be identified, but many haplotypes with rare alleles contribute to full mutations.A transition matrix constructed from the data predicts that a population with reduced variability will manifest a slowly increasing frequency of premutations and full mutations, reach a distribution close to the observed one after a few hundred generations, and then slowly be depleted of these alleles. This prediction is opposite to less well supported inference of increasing frequency of progressive amplification, but the data are inadequate to reach any firm conclusions. Factors that may determine the evolution of these systems, but cannot now be evaluated, are discussed.
Exclusion from proximal 11q of a common gene with megaphenic effect on atopy
Authors: WATSON M. , LAWRENCE S. , COLLINS A. , BEASLEY R. , DOULL I. , BEGISHVILI B. , LAMPE F. , HOLGATE S. T. , MORTON N. E. 
Published: September 2007

SUMMARYWe have typed three markers on proximal 11q in 131 random families with three or more children studied for atopy. A summary map that includes the FCER1B candidate was constructed. Using a 2‐locus disease model, we performed combined segregation and linkage analysis of three models, none of which suggested linkage. Nine marker loci on other chromosomes were also negative. In the regions swept by these 12 markers we cannot rule out a rare gene, perhaps of large effect, nor a common gene of small effect. However, a common gene of large effect is excluded. These results and alternative strategies are discussed in the perspective of inconsistent evidence for a major atopy gene.
Integrated genetic map of human chromosome 2
Authors: COX S. , BRYANT S. P. , COLLINS A. , WEISSENBACH J. , DONIS‐KELLER H. , KOELEMAN B. P. C. , STEINKASSERER A. , SPURR N. K. 
Published: September 2007

SUMMARYA framework genetic map of human chromosome 2 is described, integrating data from the Centre d'Étude du Polymorphisme Humain (CEPH) version 6 database, the CEPH chromosome 2 consortium database, the National Institute of Health (NIH)/CEPH Collaborative Mapping group and other laboratories. A comprehensive map is also presented, showing regional locations of a large number of additional loci. The framework map is used to identify an informative set of meiotic breakpoints within the CEPH families, and the utility of this information for mapping new markers is discussed. The degree of typing error within the data set is estimated, as are the sex‐specific interference parameters. A location database for these genetic and additional cytogenetic data is constructed using algorithms which map genetic distances on to a physical scale, and the potential for this approach to aid the integration of genetic and physical data is examined.
Mapping of human non‐muscle type cofilin (CFL1) to chromosome 11q13 and muscle‐type cofilin (CFL2) to chromosome 14
Authors: GILLETT G. T. , FOX M. F. , ROWE P. S. N. , CASIMIR C. M. , POVEY S. 
Published: September 2007

SUMMARYCofilin is a widely‐distributed, intracellular, actin binding protein which is involved in the translocation of actin‐cofilin complex from cytoplasm to nucleus. We have cloned a non‐muscle‐type cofilin (CFL1) from a human promyelocytic cDNA library and mapped this to human chromosome 11 by PCR amplification of 3' untranslated sequence in a panel of rodent‐human somatic cell hybrids, and to the interval 11q12‐q13.2 in a chromosome 11 somatic cell hybrid mapping panel. Confirmation of regional localisation to 11q13 has been obtained by fluorescent in situ hybridisation of genomic cosmid clones, by demonstration of the presence of both SEA (the human homologue of avian retrovirus pro viral tyrosine kinase, 11q13) and CFL1 in some of these clones and by close linkage of CFL1 to SEA in a panel of high‐dose irradiation hybrids.We have identified human muscle‐type cofilin sequences by comparison of human expressed sequence tags with M‐type cofilins of other species and we have mapped the human M‐type cofilin, CFL2, to chromosome 14.
Reproductive Reproductive behaviour and natural selection for the sickle gene in the Baiga Tribe of Central India: The role of social parenting
Authors: REDDY P. H. , MODELL B. 
Published: September 2007

SUMMARYWe have investigated the transmission of the sickle cell gene in relation to tribal structure, and genetic fitness in a primitive Indian tribal population, the Baiga. Factors operating on gene frequency include protection of AS individuals against falciparum malaria, a high frequency of genetic factors capable of moderating the severity of sickle cell anaemia (α‐thalassaemia and Xmn I polymorphism in G gamma gene), a high frequency of consanguineous marriage, and reproductive compensation by couples at risk for sickle cell anaemia. The study incidentally made it possible to measure the extent of ‘social parenting’ in such a tribal society for the first time: deviation from expectation in the distribution of the Hb A and S genes within families suggests that up to 30 % of children may not be offspring of their ostensible parents.
The early history of the statistical estimation of linkage
Authors: EDWARDS A. W. F. 
Published: September 2007

SUMMARYThe history of the statistical estimation of linkage is traced from its beginnings in 1912 to its coming‐of‐age in 1928, with special reference to the forgotten contribution of G. U. Yule and F. L. Engledow in 1914 introducing the method of minimum χ2 as the first efficient procedure.
Chromosomal localisation of genes coding for human and mouse liver cytosolic cysteine dioxygenase
Authors: JEREMIAH S. , McCANN K. P. , WILLIAMS A. C. , RAMSDEN D. B. , PILZ A. J. , FOX M. F. , POVEY S. 
Published: September 2007

SummaryA panel of 22 hybrids was tested for the presence of the gene coding for human cysteine dioxygenase (CDO) by using human specific oligonucleotide primers in the polymerase chain reaction. Detection of human CDO completely correlated with the presence of human chromosome 5. A human total genome cosmid library was screened with a PCR product from the coding region of human CDO cDNA and the two positive clones identified were used in fluorescent in situ hybridisation (FISH) analysis on metaphase chromosome spreads. Fluorescent signals were seen on chromosome 5q22–23. Interspecific backcross mapping in the mouse indicated that Cdo, the mouse homologue of CDO, is situated in the central region of mouse chromosome 18 which shares a region of homology with human chromosome 5.
From Asia to Europe: mitochondrial DNA sequence variability in Bulgarians and Turks
Authors: CALAFELL F. , UNDERHILL P. , TOLUN A. , ANGELICHEVA D. , KALAYDJIEVA L. 
Published: September 2007

SummaryTwo hypervariable sequence segments in the control region of mitochondrial DNA were determined in samples of Bulgarians and Turks. The Turkish sample presented a higher degree of internal diversity, in terms of total number of variable nucleotides, as well as in the average pairwise nucleotide difference. Pairwise difference distributions were built for both samples, yielding smooth bell shapes in agreement with the Rogers and Harpending model. The Bulgarian and Turkish data were compared with several European and W. Asian Caucasoid populations (Basques, Tuscans, Sardinians, British, Middle Easterners and Indians). Mean pairwise differences suggest that a demographic expansion occurred sequentially in the Middle East, through Turkey, to the rest of Europe (Bulgaria included). Current mutation rate estimates date this expansion in times ranging between 50000 and 100000 years ago and, thus, would correspond to the arrival of anatomically modern humans in Europe. Sequence trees for segment I show that European and Middle Eastern sequences derived from the reference sequence. Coalescence times for segment I sequences agree with those predicted by pairwise distributions. Genetic trees were constructed between populations and revealed an extreme homogeneity between European samples.
Racial heterogeneity of DNA polymorphisms linked to the A and the O alleles of the ABO blood group gene
Authors: ZAGO M. A. , TAVELLA M. H. , SIMõES B. P. , FRANCO R. F. , GUERREIRO J. F. , SANTOS S. B. 
Published: September 2007

SummaryExcept for subgroup A2 and minor A, O and B alleles (Ax, O2 and B(A)), which occur at low frequencies in the population, the major ABO alleles are considered to be homogeneous entities. The present study is the first demonstration of an extensive variability linked to the more common alleles of the blood A and O genes by digestion of the genomic DNA with different restriction enzymes and hybridization with a probe generated by PCR amplification of a segment of the last exon of the glycosyltransferase gene. For group A in Whites, two or three‐allele fragment length polymorphisms (RFLP) were demonstrated by Hinc II, Taq I and Hint I; for group O two to five‐allele RFLP were detected in Blacks, Whites and Amerindians with restriction enzymes Hinc II, Bgl I, Kpn I, Taq I and Hint I. These polymorphisms probably originated by single‐base changes, although a length variation due to variable number of tandem repeats cannot be ruled out for some. Allelic association between the different restriction sites permitted the identification of seven O allele haplotypes in Blacks, and two in Whites and Indians. Three different haplotypes were identified for group A in Whites. The greater heterogeneity of the O allele among the Blacks as compared with Whites and Indians is similar to that observed for other gene systems. The polymorphisms of the histoblood group ABH antigen genes seem a useful tool for population genetics, phylogenetics and evolution studies.
Estimating linkage heterogeneity
Authors: SMITH C. A. B. , STEPHENS D. A. 
Published: September 2007

SummaryThe admixture model for linkage heterogeneity is modified to take account of the difference in recombination fractions in the two sexes. The data used may concern a single (marker) locus on one chromosome, which is suspected of being sometimes near a (disease) locus for a particular condition of interest, or there may be data on more than one locus on this chromosome. There may be data on a locus or loci on a second chromosome, which is also suspected of sometimes carrying an allele for the condition in question. The general principle for the analysis is the same in all such cases, though details may differ. The object is to estimate the relevant recombination fractions, and the proportions of cases in which the allele for the condition falls on each chromosome.
Similarities in anthropometrical traits of children and their parents in a Bulgarian population
Authors: NIKOLOVA M. 
Published: September 2007

SummaryA study has been made of 36 body and 11 craniofacial measurements in a selected sample of 251 Bulgarian families, comprising parents and their children over 15 years. The mid parent‐offspring and correlation coefficients indicate that the extent of genetic determination varies considerably from one measurement to another. There is an evidence of directional dominance for three body traits and for two craniofacial traits. None of the different parent‐offspring correlations is compatible with X‐linked inheritance. A greater maternal than paternal influence is evident for biacromial diameter but a greater paternal influence is seen for head height, nose height and for ear height and breadth.
Applying Sense-Making and Narrative Techniques to Capture Lessons Learnt
Authors: Cheuk Bonnie 
Published: September 2007

This case study demonstrates how we have designed a knowledge management project around story-telling ("narrative" feedback). The aim is to create a global virtual space for sharing of good and bad experiences from the commissioning pilot. This project is also designed to help senior managers understand the experiences of the pilot phase of a major change programme within the British Council. The change programme (referred to as commissioning change programme) is about introducing a new internal model/process to release funding to support new products and services' development and implementation.The research design is informed by Dervin's sense-making theory and Snowden's Cynefin framework and mass narrative representation tools. Telephone and face-to-face interviews were conducted with 30 colleagues in the UK and overseas. An initial indirect question was posed to respondents—"What was your experience with the commissioning pilot?"—to capture their stories. The stories told were transcribed and indexed and patterns were identified. The analysis helps to highlight the problematic areas as well as opportunities for improvement.This case study demonstrates the potential of using narratives to evaluate and capture learning points which can be viewed by managers and staff using multiple perspectives. This approach complements the traditional approach of producing an evaluation report which would be written for a specific group of audience, such as the senior management team.
Some engineering aspects of rock weathering with field examples from Dartmoor and elsewhere
Authors: Fookes Peter George , Dearman William Robert , Franklin John Allan 
Published: September 2007

Summary
Weathering and weatherability have been defined and a general scheme of weathering classification has been developed for engineering.
Fundamental mechanical changes in behaviour due to weathering are considered for both intact rock and discontinuous rock, and a brief study is made of available field and laboratory tests to assess weathering and weatherability. From this, suggestions are made for classification schemes designating rock quality for mapping and core logging.
The results of fieldwork and laboratory studies on weathered rocks mainly from the Dart-moor area, S.W. England, are given. Several different rock types, including granite, dolerite, limestone and mudstone, have been classified on the weathering scale, tested in the field by point loading and Schmidt hammer, and laboratory determinations of strength and porosity made. The results show clear trends of decreasing strength and fracture spacing with increased weathering and general conclusions and observations on engineering weathering classifications have been drawn. In early stages of weathering it appears that there is a general increase of fractures per unit volume and in later stages of weathering there is a rapid increase in chemical decay. In addition, geometrical distributions of weathering in fold and fault situations have been examined.
The full implications of Tertiary warm climate weathering and Quaternary cold climate weathering are not yet clear.
P. M. JAMES: The behaviour of a soft recent sediment under embankment loadings
Authors: Tan S. B. 
Published: September 2007

From S. B. T
an
:

The author has interpreted his results on secondary consolidation by using the empirical approach of Buisman. The writer (Tan, 1971) has suggested that an improved empirical approach would be to plot the ratio of the time to settlement against time in which a straight line would ensue, as shown by the following equation:—

t
/δ =
Mt
+
C

in which δ is the total settlement at time t after the dissipation of excess pore water pressure,
M
and
C
are empirical constants. The inverse slope 1/
M
of Equation (1) will yield the ultimate settlement thus overcoming the shortcomings of Buisman's approach in which the settlement does not seem to terminate.

Using the author's results (Fig. 6), the plot of
t
/δ against
t
is presented in Fig. 1. It is readily seen that Equation (1) is practically followed except for the first few points when the time is small (i.e. when primary settlement predominates). The ultimate settlement evaluated from the inverse slope 1/
M
is as follows:—

North Embankment 5.75 feet
South Embankment 3.55 feet
It would appear from the above that the author's estimate of over 6 feet (North Embankment) and over 3 feet (South Embankment) would be the final settlement and this would take place over a period of about ten years.

In Fig. 2, the predicted field settlement/time curve (using Equation (1) and the empirical constants
M
and
C
derived from Fig. 1) is shown. It is observed that there is good agreement between the actual and the calculated
The functions of the Engineering Geologist in urban development
Authors: Taylor Roy Kenneth 
Published: September 2007

Summary
The participation of the engineering geologist in urban development can be considered under four principal functions—geological interpretation, data acquisition (pre-site investigation), collation of geotechnical data, recording (and publication) of case histories. Examples cited from the North of England demonstrate that these functions are interrelated and that there is much in favour of local authorities themselves employing engineering geologists.