bluuebunny/crossref_metadata_2025_split huggingface dataset:
Maternal age, parity* social class and sex ratio
Authors: ROSTRON JOHN , JAMES WILLIAM H. 
Published: September 2007

SUMMARY AND CONCLUSIONS:1. Analysis of variance has been performed on data on more than 1 million Scottish births simultaneously classified by sex, maternal age, birth order and social class.2. Although there is a, probably significant mean shift in the sex ratio with social class, the fluctuation between years, age‐classes and parity‐classes are very large in comparison. The shift is in the expected direction, viz. higher in the upper social classes and lower in the lower social classes.3. Data have been cited, and fresh data accumulated, on very large samples of white U.S. live births (each of more than 20 million births). These suggest that there is a small decline in sex ratio independently and significantly with both maternal age and birth order.4. In general, the decline with maternal age cannot be detected in U.S. samples representing only one year's births (numbering roughly 3 million births).5. It seems reasonable to suppose that the causes of such declines may be present in the Scottish data, but that their effect has been swamped by sampling error.6. The most important result in the present study is the failure to detect any meaningful association between sex ratio and social class.7. It is inferred that if there is such an association in white births, it is not very large and therefore cannot be responsible for bias in the data of Garfinkel and Selvin.8. Accordingly it is argued that the decline in sex ratio with paternal age detected by these authors and others may be real rather than a statistical artifact.9. Such an association would be compatible with the hypothesis that the sex of EL human zygote is somehow dependent on timing of insemination and hence on coital rate.
F‐statistics and analysis of gene diversity in subdivided populations
Authors: NEI MASATOSHI 
Published: September 2007

SUMMARYIt is shown that Wright's F‐statistics can be defined as ratios of gene diversities of heterozygosities rather than as the correlations of uniting gametes. This definition is applicable irrespective of the number of alleles involved or whether there is selection or not. The relationship between F‐statistics and Nei's gene diversity analysis is discussed.
Bioassay of kinship in northwestern Europe*
Authors: MORTON N. E. , DICK H. M. , ALLAN N. C. , IZATT M. M. , HILI E. , YEE S. 
Published: September 2007

SUMMARYKinship of Barra (Outer Hebrides) is bioassayed as 0.0096 relative to northwestern Europe, in reasonable agreement with prediction of 0.008 relative to Britain. The exponential decline of kinship with distance is similar to Scandinavia. Kinship of larger populations is consistent with predictions from isolates.Kinship is largely due to local drift rather than Norse admixture, the estimate of which is obscured by drift and appears highly unreliable. Other populations in northwest Europe, including Iceland, Lewis and Orkney, give estimates of kinship which reflect drift and geography, but also do not provide reliable estimates of admixture.Bioassay of kinship from gene frequencies gives observations to be explained in terms of migration and drift, but contributes nothing to the question of whether polymorphism in the species is maintained by neutral mutation or selection. Although the latter is on various grounds more likely, no calculations based on gene frequency distribution can provide critical evidence.
Lysosomal enzymes in human lymphoblastoid lines: unusual characteristics of RAJI and DAUDI
Authors: SWALLOW DALLAS M. , GARDINER S. ELIZABETH , HARRIS HARRY , ARTHUR ELIZABETH , STEEL C. M. , EVANS H. J. 
Published: September 2007

SUMMARYThe lysosomal enzymes N‐acetyl hexosaminidase, α‐galactosidase and α‐mannosidase vary in electrophoretic mobility in different human lymphoblastoid (lymphoid) lines. The relative mobilities of these three enzymes and three out of four other lysosomal enzymes tested correlate well with each other. The patterns appear to be relatively stable characteristics of each line. The lines RAJI and DAUDI show a strikingly fast electrophoretic mobility for all of these enzymes. N‐acetyl hexosaminidase is also markedly deficient in DAUDI.
Blue Sepharose chromatography of human alcohol dehydrogenase: evidence for interlocus and interallelic differences in affinity characteristics
Authors: ADINOLFI A. , HOPKINSON D. A. 
Published: September 2007

Summary1. The various isozymes of human alcohol dehydrogenase have been examined by Blue2. The products (α, β1 and γ1) of the common alleles a t the three ADH loci (ADH, ADH, and ADH, respectively) were found to show slight, but significant differences in their aflinities for Blue Sepharose. The order of affinity of the homodimeric isozymes was: aa < ylyl < plP1. The heterodimeric isozymes showed intermediate affinities.3. The products (γ1 and γ2) of the common alleles (ADH31 and ADH32 respectively) at the ADH, locus showed a pronounced difference in their affinities: the γ1γ1 isozyme was firmly adsorbed by Blue Sepharose, whereas the γ2γ2 isozyme was not adsorbed. The heterodimeric γ1γ2 isozyme was intermediate in its behaviour.4. The 'usual' and 'atypical' forms of ADH were indistinguishable by Blue Sephasose column chromatography.5. The 'anodal' form of ADH showed no affinity for Blue Sepharose.We are grateful to the Department of Pathology, Radcliffe Infirmary, Oxford, for tlie adult post‐mortem tissues and to the M.R.C. Tissue Bank at the Royal Marsden Hospital for foetal specimens. We also thank Mrs Caroline Greensted and Miss Geeta Bulsara for their help and the Wellcome Trust for financial support (Wellcome Trust Research Fellowship for Dr A. Adinolfi).
Developmental changes in the protein profiles of human cardiac and skeletal muscle
Authors: TIPLER T. D. , EDWARDS Y. H. , HOPKINSON D. A. 
Published: September 2007

Summary1.The use of SDS electrophoresis as a tool for the analysis of developmental processes in man has been evaluated.2. The protein profiles of cardiac and skeletal muscle from foetal (10–24 weeks gestation) infant and adult specimens have been analysed and striking developmental changes were found which involved all the major proteins.3. Before 20 weeks gestation the soluble protein profile of skeletal muscle appears to consist largely of extracellular proteins.4. Myoglobin was found in foetal cardiac muscle from 20 weeks gestation but was not demonstrable in foetal (< 24 weeks gestation) skeletal muscle. Foetal and adult myoglobin were indistinguishable.5. A limited survey of the protein patterns of brain, liver and kidney was carried out. In general these tissues show less developmental change than skeletal or cardiac muscle.We are grateful to the Department of Pathology, Itadcliffe Infirmary, Oxford, for the adult post‐mol ten1 tissues and to the MRC Tissue Bank a t the Royal Marsden Hospital for foetal specimens. We also tllank Mrs Caroline Greenstead for her help.
The frequency in Japanese of genetic variants of 22 proteins: V. Summary and comparison with data on Caucasians from the British Isles
Authors: NEEL J. V. , UEDA N. , SATOH C. , FERRELL R. E. , TANIS R. J. , HAMILTON H. B. 
Published: September 2007

SummaryThe frequencies in Hiroshima and Nagasaki of rare variants (represented in less than 2 % of the individuals surveyed) is summarized for a series of 22 proteins (25 polypeptides). The average number of persons examined for each protein was 3312. There are three pairs of homologous proteins in the series: PGM, and PGM, CA I and CA 11, and HGB A and A,. Only for the first pair is there a significant difference between the two in the total frequency and number of different kinds of variants; it is suggested this may reflect differences in the mutation rates of the corresponding structural genes. For 23 of these polypeptides, comparable data are available for British Caucasians. The average frequency of variants for loci in common in the two series is 2.0/1000 person determinations for Japanese and 1.6/1000 for Caucasoids. At two loci (PGMl and PHI) there were significantly more variants in Japanese than in British; these two loci account for the greater average frequency of variants in Japanese. However, a conservative comparison of number of diflerent variants (electromorphs) encountered, using the 0 statistic of Ewens (1972), yields no significant difference for any of the 22 possible contrasts. The potential usefulness of data of this type in reaching conclusions regarding comparability of mutation rates in two populations is discussed. For the present, the fact that one electromorph may shelter multiple different amino acid substitutions in a protein limits the inferences to be drawn from such contrasts.It is 8 pleasure to acknowledge our indebtedness to Dr Peter Smouse and Dr Warren Ewens for statistical consultations, but responsibility for the tentative interpretations is entirely our own.
On data and methods in investigations on parental‐age effects Comments on a paper by J. D. Erickson
Authors: STENE JON , STENE EEVA 
Published: September 2007

SummaryAn analysis of the NIS data used by Erickson (1 977) has revealed that this data contains too few Down' syndrome cases with older fathers. Thus the data is less suited for an investigation of a possible paternal age effect. In addition, the statistical tests used by Erickson have low power, so that they are unable to detect a moderate paternal‐age effect.Our analysis has demonstrated that discussions on paternal‐age effects and similar problems should be based on high‐quality data. The investigation is better based on a small high‐ quality material than on a large one with serious underascertainment. In the latter case one has to be extremely careful because the missing observations nearly always have common characteristics which may cause serious bias of relevant kinds.The work haa been supported by the Danish Medical Research Council.
On measuring genetic distance by selection intensity
Authors: CHUN LI CHING 
Published: September 2007

SummaryA simple selection model (fitness 1, w, w2 for AA, Aa, aa) is employed to change the gene fre‐ quency of one population to another. The genetic distance is then defined as d = ‐log w between the two populations. The distance is symmetrical with respect to the two populations. It is additive: d, = dI2+d23. The sampling variance of d takes a very simple form. The possible difficulties of using genetic distance in studying evolutionary history have been briefly discussed. The writer means no offence to those who have developed or used the various measures of genetic distance.
Heritability of stature in a West African population
Authors: ROBERTS D. F. , BILLEWICZ W. Z. , McGREGOR I. A. 
Published: September 2007

SummaryHeritability of stature in a West African popuIation is calculated from longitudinal data collected over 26 years. Statistical and analytical difficulties encountered in the study include those due to variation in stature with age, sex, recording and measuring, variation in number of offspring, variation in number of spouses, and heterogeneity of within‐sibship variances.The structure of the population allows a half‐sib analysis which is particularly useful in interpretation of the intrafamilial correlations and regressions. The heritability estimate of 0.6 appears lower than that from studies in European populations, The environmental contribution t o the stature variance is pronounced, but is not unexpected in the light of the rigours of the traditional way of life in West African surroundings.Acknowledgement is gratefully made to Miss R. M. Holliday for computational assistance.
An incorrect definition of fitness revisited*
Authors: DENNISTON CARTER 
Published: September 2007

SummaryI have attempted to show that a certain mistaken definition of fitness, which surfacesoccasionally, may turn out to have some merit. No claim is made that it is an improvement on, or should replace, the conventional definition of fitness; but it is different and has its own validity. Its generality is intriguing, its application is not limited either to selection or one locus models, and it may be easier to measure experimentally.The author wishes to express his thanks to Professors James Crow and Thomas Nagylaki and Mr William Engels for their most helpful comments and criticisms. Engels for their most helpful comments and criticisms.This research was sponsored by the National Institutes of Health (grant GM15422 09).
Parental age and birth order in the aetiology of some sex chromosome aneuploidies
Authors: CAROTHERS A. D. , COLLYER S. , de MEY R. , FRACKIEWICZ A. 
Published: September 2007

SUMMARYThe roles of maternal age, paternal age and birth order in the aetiology of the 47, XXY, 47, XXX and 47, XYY aneuploidies were examined using the liveborn full sibs of propositi as controls. As in previous studies, the incidence of XXY's and XXX's was found to be increased at high parental ages. A small but significant inverse relationship between parental age and the incidence of XYY's was also found. The results were consistent between different methods of ascertainment, different sibship sizes and different years of birth of propositi. The XXY results could not be explained without a maternal age effect and could be explained with a maternal age effect alone. The XXX and XYY results could not be explained without either a maternal or a paternal age effect, but could be explained without a birth order effect. Estimates of the relative risk at different parental ages are derived and shown to apply to the general population, provided the distribution of parental ages at birth is the same for those parents who are at risk (and who may or may not comprise the entire population) as for those who are not. The validity of the method of analysis was confirmed by applying it to a group of familial chromosome rearrangements which, as expected, revealed no dependence on parental age or birth order.
Rapid computer analysis of linkage data
Authors: STURT ELIZABETH 
Published: September 2007

SUMMARYA well tested and useful computer program for screening large amounts of pedigree data for linkage is described. All types of pedigree and genetic systems with up to six alleles present in the pedigree are allowed. An original procedure fills in uncertain genotypes and searches for internal inconsistencies in the data and is extremely thoroughgoing. Population gene frequencies are not used, although the program does take account of rare alleles. The scoring method is based on the division of the pedigree into sibships and the application of z‐scores for the sexes considered separately wherever possible. About 2000 pedigrees have been analysed and scores for about the same number of pairs of loci are on tape.A mathematical exercise showed that the method of z‐scores with score corrections, which is very much quicker than calculating complete likelihood, is acceptably efficient and its efficiency approaches 100% when scoring rare recessive systems.It is shown that the maximum value of the score is a good criterion for linkage, values of 3.1 and 4.0 indicating roughly 95% and 99% probabilities of linkage. The calculation of 2‐unit support limits for the estimate of the recombination fraction between linked loci is advocated, and tables of these are given for syntenic loci. No new linkages were confirmed.
α‐Galactosidase isozymes in normal individuals, and in Fabry hemizygotes and heterozygotes
Authors: SØRENSEN S. A. , HASHOLT LIS 
Published: September 2007

SummaryA method for staining of α‐galactosidase with the synthetic substrate a‐naphthyl‐α‐galacto‐pyranoside after isoelectric focusing on gel slabs has been devised. Depending on the method used for cell extraction, at least seven isozymes could be detected in cell extracts of cultured fibroblasts from normal individuals.Thermal treatment revealed that both heat‐stable and heat‐labile isozymes occur in normal fibroblasts. The heat‐IabiIe isozymes were not detected in cells from Fabry hemizygotes and thus truly reflect products of the a‐gal A locus. Three heat‐stable isozymes observed in normal individuals were also found in Fabry heterozygotes and hemizygotes and are presumably determined by the α‐gal B locus. The remaining isozymes were stained very weakly in the hemi‐zygotes and were heat‐stable. The relation of these isozymes to the A or B locus is uncertain. After treatment with neuraminidase the =I‐gal A isozymes could not be detected and one of the α‐gal B isozymes appeared broader.The isozyme pattern observed in heterozygotes was almost identical to the normal one.
The effect of social selection on the population dynamics of Huntington's disease
Authors: YOKOYAMA SHOZO , TEMPLETON ALAN 
Published: September 2007

SummaryWallace (1976) postulated the importance of social selection on the frequency of Huntington's disease. This effect of social selection was studied with respect to the population dynamics of Huntington's disease genes. It is shown that social selection operates mainly through heterozygotes. Existing data indicate that the frequency of Huntington's disease in the population is determined by its social effects.
Tooth sizes in two males with deletions of the long arm of the Y‐chromosome
Authors: ALVESALO L. , CHAPELLE A. DE LA 
Published: September 2007

SUMMARYPermanent and deciduous tooth crown sizes in two males with deletions of the long arm of the Y chromosome and their first‐degree relatives were examined. The first proband with a deletion in the proximal part of Yqll showed definitely smaller teeth than his father or population control males. The second proband with a deletion in the distal part of Yqll showed large or normal sized teeth compared to his brother or population control males. These data support the results of earlier studies indicating a promoting effect of the Y chromosome on tooth growth, and suggest that the location of the growth‐promoting gene(s) is in Yqll. It is postulated that statural growth is affected by the same gene(s).
Complementation analysis of human sialidase deficiency using natural substrates
Authors: SWALLOW D. M. , HOOGEVEEN A. T. , VERHELJEN F. W. , GALJAARD H. 
Published: September 2007

SUMMARYComplementation analysis by somatic cell hybridization to produce heterokaryons has shown that at least three complementation groups exist within the disorders in which the enzyme sialidase is deficient. We have confirmed these results by electrophoretic analysis of two glycoprotein enzymes, adenosine deaminase and acid phosphatase, which show aberrant electrophoretic mobilities in these disorders. These abnormal forms, which have excess sialic acid bound, disappear on complementation and are replaced by normal mobility components. It is suggested that the sialidase produced on complementation uses the abnormal forms as natural substrates and that they may represent normal intermediates in the processing of glycoprotein enzymes.
Chromosomal localization of a single copy gene by in situ hybridization ‐ human β globin genes on the short arm of chromosome 11
Authors: MALCOLM S. , BARTON P. , MURPHY C. , FERGUSON‐SMITH M. A. 
Published: September 2007

SUMMARY1. The localization of the β globin genes by in situ hybridization to fixed chromosomes is described.2. The probe used was a [3H]cRN A copy of a genomic clone containing in total 4‐4 kb of DNA and including the β globin gene.3. The evidence for the localization of the gene comes from three pieces of data, (a) Chromosome 11 is labelled to double the extent expected if the grains were randomly distributed, (b) the extra grains above background are clustered on the short arm of 11 close to the centromere, and (c) the absolute number of grains observed is very close to that predicted for a probe of that length by comparison with ribosomal genes. The localization is in agreement with that obtained by other methods.4. This method could be extended to any gene for which a genomic clone containing at least 5 kb of single copy DNA is available.
Linkage relationship of the loci for Anderson‐Fabry disease and the Xg blood groups
Authors: JOHNSTON A. W. , SANGER R. 
Published: September 2007

SUMMARYInformation provided by the follow‐up of a family in which Anderson‐Fabry disease segregates, together with a family reported by Ropers et al. (1977), negates the previous evidence of a probable linkage between αGALA and Xg.
Estimation of fitness reduction due to a chronic disease in man
Authors: NEI M. , YOKOYAMA S. 
Published: September 2007

SUMMARYAn improved mathematical method is presented for estimating the amount of fitness reduction due to a chronic disease by using demographic data. It is shown that Cavalli‐Sforza and Bodmer's equivalent formula gives an underestimate. Application of the new formula indicates that the selective difference between blood groups 0 and A, resulting from their association with duodenal ulcer, is 6‐4 times 10‐5, i.e. ten times higher than Cavalli‐Sforza and Bodmer's estimate.
Genetics of paraoxonase
Authors: EIBERG H. , MOHR J. 
Published: September 2007

SUMMARYDanish family material comprising 1664 unrelated individuals (parents) and 3169 children, as well as 699 grandparents of the same families, were examined for paraoxonase activity. A micro‐autoanalyser method, comprising a primary testing in tris buffer at pH 7‐5 and, in the case of primarily intermediate individuals, a secondary testing at pH 10, was applied. This gave a better discrimination than testing only at pH 7.5, because individuals around the low mode of the primary activity distribution had their pH optimum at pH 10, while the optimum of individuals around the high was at pH 8.5. By this combined testing all individuals could be unequivocally classified as ‘low’ or ‘high’, and the family material was compatible with the low phenotype representing homozygosity for an autosomal recessive gene with a frequency Plow= 0–726. Out of 5532 individuals, 5 showed an almost complete lack of paraoxonase activity.
Immunoglobulin heavy chain genes in humans are located on chromosome 14
Authors: HOBART M. J. , RABBITTS. T. H. , GOODFELLOW P. N. , SOLOMON E. , CHAMBERS S. , SPURR N. , POVEY S. 
Published: September 2007

SUMMARYThe human immunoglobulin heavy chain gene complex has been assigned to chromosome 14 by filter hybridization of restriction digests of mouse‐human somatic cell hybrids. Cloned DNA probes for both variable and constant regions were used.
Regulation of expression of liver‐specific enzymes: I. Detection in mammalian tissues and cultured cells
Authors: KIELTY C. M. , POVEY S. , HOPKINSON D. A. 
Published: September 2007

SUMMARYNineteen enzymes showing highest activity in liver were examined in human and rodent tissues and cultured cells using starch‐gel electophoresis. The rat hepatoma line Faza 967 strongly expressed 13 of these enzymes. A series of somatic cell hybrids, constructed between Faza and cells of non‐hepatic origin derived from man or from Chinese hamster, were examined for expression of these enzymes. Some of the human/rat hybrids continued to produce rat liver specific enzymes, and the human forms of the enzymes glutamate‐pyruvate transaminase, a‐glycerophosphate dehydrogenase, alcohol dehydrogenase and pyruvate kinase L were re‐expressed in a few cases.
Genetic heterogeneity of human prothrombin (FII)
Authors: BOARD P. G. , COGGAN M. , PIDCOCK M. E. 
Published: September 2007

SUMMARYA new procedure for the electrophoresis and localization of prothrombin is described. This technique has revealed three allelic variants at the prothrombin structural locus (FII). One of these alleles (F II4) reaches polymorphic frequencies in some Pacific Island populations.Investigation of the activated products of the three variant prothrombins has demonstrated that, in each case, the structural variation is located on a profragment and not on the enzymically active thrombin molecule.