bluuebunny/crossref_metadata_2025_split huggingface dataset:
Investment and Uncertainty: A Theory‐based Empirical Approach*
Authors: Carlsson Mikael 
Published: September 2007

AbstractThis paper provides empirical evidence on the dynamic effects of uncertainty on firm‐level capital accumulation. A novelty in this paper is that the firm‐level uncertainty indicator is motivated and derived from a theoretical model, the neoclassical investment model with time to build. This model also serves as the base for the empirical work, where an error‐correction approach is employed. I find a negative effect of uncertainty on capital accumulation, both in the short run and the long run. This outcome cannot be explained by the model alone. Instead, the results suggest that the predominant mechanism at work stems from irreversibility constraints.
HAIR‐COLOUR VARIATION IN THE UNITED KINGDOM*
Authors: SUNDERLAND By E. 
Published: September 2007

Summary1. Spectrophotometric curves were obtained for 1000 hair samples of young adult males. The sample was drawn in such a way as to constitute a random sample of England, Scotland and Wales.2. A number of relatively simple statistical procedures were examined as methods of analysing the distribution of hair shade and hue in this sample.3. Using these statistics, a study of broad regional differences in hair colour was made.Thanks are due to the Director of the Light Division, National Physical Laboratory, Teddington, for permission to use the Hardy Spectrophotometer, and to Prof. L. S. Penrose and Dr N. A. Barnicot for assistance in the preparation of this paper. Acknowledgements are also made to the Director of Personnel Research, War Office, for arranging for the samples to be made available
MONOZYGOTIC AND DIZYGOTIC TWIN DIAGNOSIS
Authors: SMITH SHEILA MAYNARD , PENROSE L. S. 
Published: September 2007

SummaryA method of estimating the probability of dizygotic and monozygotic twin pairs is described. Parent‐child and sib‐sib frequency tables for the ABO, MNS and Rhesus blood‐group systems and formulae for obtaining these tables for the P, Lutheran, Kell, Duffy, Kidd and non‐secretor (or Lewis) systems are given.Tables of the distribution of differences in total finger ridge count and atd palmar angles are also given.The probability that a given twin pair is monozygotic is estimated in two worked examples.
BLOOD GROUPS AND FERTILITY IN A JAPANESE POPULATION, WITH SPECIAL REFERENCE TO INTRAUTERINE SELECTION DUE TO MATERNAL‐FOETAL INCOMPATIBILITY
Authors: MATSUNAGA E. , ITOH S. 
Published: September 2007

SummaryIn order to study whether there is differential fertility between different mating types of ABO, MN and Q systems, an investigation has been carried out on the population samples of two mining town areas, Ashibetsu and Kohnomae in Hokkaido. The material comprises 741 couples in Ashibetsu and 688 couples in Kohnomae. As the areas were found to be homogeneous in regard to the distributions of each blood group as well as of mating types, further analysis was made using the pooled data. It has been revealed that there is no indication of any selective force with respect to MN and Q mating types, while in the classical blood groups there are differences in human fertility between certain mating types.In the present data two different selective forces have been found in ABO mating types. The first one, arising from maternal‐foetal incompatibility, has been observed in the differential fertility between compatible and incompatible mating groups. The frequencies both of abortions per pregnancy and childless couples in the incompatible matings are, essentially higher than those in the compatible ones. A highly significant reduction in the mean number of living children has been observed in the incompatible matings compared with that in the compatible matings. This selection is operating to reduce the gene ratios of A and B and to increase the gene ratio of O. Mortality rate of the children of heterozygous genotypes incompatible with the mother has been roughly calculated as 21 % in this population.The other selective force has been observed in the differential fertility within certain compatible mating types. The mean numbers of pregnancies as well as of living children in A x A matings were significantly higher than those in A♀×O♂ and in AB♀×O♂ matings. It has been further revealed that, if compatible matings are divided into two subgroups, the matings in which the father belongs to O group have significantly lower fertility than those matings in which neither parent belongs to O. The effect of this second selection upon gene ratios is in the opposite direction to that of the first one, so that the losses of A and B genes eliminated through incompatibility could be compensated in the population.
THE EFFECT OF PARENTAL AGE, PARITY AND DURATION OF MARRIAGE ON THE TWINNING RATE
Authors: BULMER M. G. 
Published: September 2007

Summary1. Italian figures on twin maternities are analysed and it is shown that the dizygotic, but not the monozygotic, twinning rate increases with parity.2. It is suggested that the increase in twinning rate with age of father for fixed age of mother demonstrable in the U.S.A. and Egypt may be due to the effect of parity.3. It is shown that the twinning rate is higher among first legitimate maternities conceived in the first 3 months of marriage than among similar maternities conceived either before marriage or later.
Apert's syndrome (a type of acrocephalosyndactyly)–observations on a British series of thirty‐nine cases*
Authors: BLANK C. E. 
Published: September 2007

SummaryAcrocephalosyndactyly may be divided into two main clinical categories: (i) Apert's syndrome, and (ii) atypical acrocephalosyndactyly.Apert's syndrome can be attributed to a single gene in heterozygous form. On this hypothesis sporadic cases are due to new mutation in the germ cells of one or other parent.Although it is convenient at present to speak of the syndrome as homogeneous, there are indications, namely, the difference in parental age distribution between sporadic cases with severe developmental deformity of the viscera and sporadic cases without known visceral deformity, that this might not be so.The incidence at birth of Apert's syndrome is estimated as approximately 1 in 160,000 and that in the general population as 1 in 2,000,000. The difference between these estimates is in part due to lack of ascertainment in the living population and in part due to the high mortality of these patients, particularly in early infancy.The rate of mutation at the Apert locus is estimated to be 3 times 10‐6 per gene per generation.There is a marked parental age effect among sporadic cases of Apert's syndrome; this is probably due solely to an increase in father's age.Apert's syndrome and atypical acrocephalosyndactyly are probably etiologically unrelated.I am greatly indebted to Prof. Penrose for his interest and guidance throughout this study and especially for his advice on the statistical treatment of the parental age data. Thanks are due to Dr C. A. B. Smith for his guidance on various statistical matters and to Dr D. G. Harnden, Medical Research Council Unit, Harwell, for a report on the chromosomes of case 18. I would like to express my gratitude to the many medical practitioners, specialists and general practitioners, who have helped in the ascertainment and investigation of the patients in this series.
A genetical study of the variations in ABH secretion
Authors: CLARKE C. A. , McCONNELL R. B. , SHEPPARD P. M. 
Published: September 2007

Summary1. The sib pair data suggest that the amount of A, B or H antigen secreted by an individual is in part inherited.2. Most of the inherited component of the variance in antigen secreted appears to be polygenic.3. The data confirm that group O people secrete more H substance than do group A people who, in turn, secrete more than group B people, and that group AB people secrete least of all. This suggests that there may be a difference between homozygotes and heterozygotes of groups A and B with regard to the amount of H secreted.4. The ratio of A:H secreted appears to be in part controlled genetically.5. The distribution of the ratio of A: H substance in group A secretors indicates that many of the so‐called aberrant secretors are really the arbitrarily chosen extremes of a continuous and unimodal distribution of ratios. If this be so, aberrant secretors should be defined as individuals whose A: H or B: H ratio falls more than a given number of standard deviations from the mean of the control group. Such a definition would allow people in different places, using different antisera, to compare their results.The research has been carried out with the aid of grants from the Medical Research Committee of the United Liverpool Hospitals under the Chairmanship of Lord Cohen of Birkenhead, the Nuffield Foundation and the Medical Research Council. Our thanks are due to our Senior Technician, Mr W. T. A. Donohoe, for his expert serological work. Finally we are grateful to our research assistant, Miss S. M. Manning, who has been invaluable in collecting most of the material and in carrying out all the secretarial work.
Kell types in Down's syndrome*
Authors: GOODMAN HAROLD O. , THOMAS JAMES J. 
Published: September 2007

SUMMARYTo test for linkage of the Kells locus to the chromosome trisomic in Down's syndrome, 585 mongoloid and 585 non‐mongoloid retardates matched for county of residence were tested. No significant difference in the frequencies of Kell types was detected. The frequency of Kell positives among mongoloids was almost identical to that observed in an independent sample of blood donors drawn from one community in North Carolina. Efforts to detect doasage effects using twofold dilutions of anit‐K and anti‐k were unsuccessful. Though no evidence for linkage was detected, it is recognized that the possibility of linkage has not been absolutely excluded bt only made less probable.
Tissue distributions, substrate specificities and molecular sizes of human peptidases determined by separate gene loci
Authors: RAPLEY SANDRA , LEWIS W. H. P. , HARRIS HARRY 
Published: September 2007

SUMMARY1. The distribution of seven different peptidases thought to be determined by separate gene loci has been examined in a variety of human tissues. Although most of them are widely distributed, their relative activities vary from tissue to tissue.2. The enzymes have been characterized in terms of their electrophoretie mobilities, their patterns of specificity with thirty‐five different substrates, and their molecular sizes as estimated by gel nitration.3. One of the peptidases (peptidase S) which is not found in red cells but is present in most other tissues has not been previously described. It appears to hydrolyse a somewhat wider range of substrates than the other peptidases, and to have a larger molecular size (c. 245,000).
Inherited variants of human nucleoside phosphorylase
Authors: EDWARDS YVONNE H. , HOPKINSON D. A. , HARRIS HARRY 
Published: September 2007

SUMMARY1. A method, for the starch gel electrophoresis of human nucleoside phosphorylase (NP) is described. Multiple NP isozymes were found in most human tissues and the best resolution of these isozymes was achieved by electrophoresis in a buffer system containing lithium ions.2. Tissue to tissue variation in the complexity of the NP isozyme patterns and the examination of NP isozymes in relatively young red cells, suggest that a primary isozymic form of human NP is modified in vivo with generation of several secondary isozymes. The slowest isozyme is probably the primary form in all tissues, the secondary isozymes have greater anodal electro‐phoretic mobilities. Storage experiments carried out with fibroblasts indicate that in vitro modification of the NP isozyme patterns may also occur.3. Three electrophoretically different genetically determined variants of NP were found in a survey of red cell lysates from 2178 unrelated individuals; one of them was found twice. Family studies showed that these variants occur in individuals heterozygous for a common allele (NP1) and a variant allele (either NP2, NP3 or NP*) at an autosomal locus.4. Examination of the NP isozymes in cultured fibroblasts and hair follicle cell extracts obtained from individuals with variant red cell phenotypes suggests that NP has a trimeric structure. In vitro hybridization experiments using a freeze‐thaw‐NaCl technique with mouse and human liver and with calf spleen and human liver NP support this view.5. The molecular size of human NP by gel filtration chromatography is c. 84,000.
FURTHER FAMILIES SHOWING LINKAGE BETWEEN THE ABO and NAIL‐PATELLA LOCI, WITH NO EVIDENCE OF HETEROGENEITY
Authors: LAWLER SYLVIA D. , RENWICK J. H. , WILDERVANCK L. S. 
Published: September 2007

SUMMARYFurther linkage data from families manifesting the nail‐patella syndrome are presented. These have been added to the previously published material to test for the presence of heterogeneity between families with respect to the closeness of the linkage between the ABO and the nail‐patella loci. No evidence for heterogeneity in the linkage data has been found. The revised estimate of the recombination fraction is 10.7 %± 2.8 %.We wish to thank Dr C. A. B. Smith for advice on the statistical analysis. The work in Holland was financed by a special grant from the Medical Research Council and received valuable support from Prof. A. Pondman, Prof. A. Polman in Groningen and from Dr J. J. van Loghem in Amsterdam. There are many others we should like to thank in Holland, particularly Dr F. Gerritzen and Dr L. E. Nijenhuis. We are indebted to Dr A. E. Mourant for most of the antisera used in this investigation and to Drs D. Lehane and P. L. Mollison for supplies of anti‐Fya serum. X‐ray films were made available through the kindness of Drs H. S. Bennett, O. Cooper, A. S. Craner, T. V. Crichlow, B. Z. Jaskmanicki, Prof. S. Keijser, J. H. Smitham and A. C. R. Wakeman. Mr G. R. Fisk and Dr T. W. Callan each allowed us to visit patients under their care and S./Ldr. C. P. Handforth kindly helped by sending blood samples from Singapore. Finally, our greatest thanks are due to the families for their willing oo‐operation.
Testing the significance of risk estimates for the predisposition of heterozygotes to common diseases
Authors: CHASE CHARLES , PINKHAM ROGER , SWIFT MICHAEL 
Published: September 2007

SUMMARYA maximum‐likelihood method has been used previously to estimate, from family studies, the relative risk of common disorders for heterozygous carriers of genes for certain autosomal recessive syndromes. In this paper statistical significance of relative risk estimates was evaluated using critical values from computer‐generated sampling distributions of the test statistic. In several practical cases a significance test based on the computer‐generated distribution was more conservative than a test which assumed normality for the sampling distribution.
A recursive algorithm for the calculation of identity coefficients
Authors: KARIGL G. 
Published: September 2007

SUMMARYBased on a theory of generalized kinship coefficients a recursive algorithm for the calculation of the coefficient of kinship and all nine condensed identity coefficients for any two individuals with given pedigree is described. Furthermore, the algorithm also permits the calculation of all fifteen detailed coefficients for two individuals neither of whom is an ancestor of the other one. Results for standard as well as highly inbred relationships are given.
Linkage analysis and family classification under heterogeneity
Authors: OTT JURG 
Published: September 2007

SummaryHeterogeneity of the recombination fraction may or may not involve a mixture of two groups of elements. For the mixture situation (families with or without linkage between two gene loci), Morton's homogeneity test is compared with another test (Admixture test) with respect to significance level, power, parameter estimation and classification of families. The Admixture test is shown generally to have superior properties in this situation.
Assignment of the haemophilia B (Factor IX) locus to the q26‐qter region of the X chromosome
Authors: BOYD Y. , BUCKLE V. J. , MUNRO E. A. , CHOO K. H. , MIGEON B. R. , CRAIG I. W. 
Published: September 2007

SummaryTwo independent approaches have provided an assignment for the factor IX (Haemophilia B) locus to Xq26–qter, the distal region of the X chromosome long arm. Cloned DNA sequences of the gene were hybridized to restriction enzyme digests of DNA prepared from a series of somatic cell hybrids containing different X‐chromosomal regions and also in situ to prepared metaphase chromosomes.
Inherited thermostability variants of seven enzymes in a Japanese population
Authors: SATOH C. , NEEL J. V. , MIURA A. , UENO C. , ARAKAWA H. , OMINE H. , GORIKI K. , FUJITA M. 
Published: September 2007

SummaryThe frequency of inherited variations in thermostability was investigated in a series of seven enzymes in a Japanese population. Among a total of 5930 determinations, nine variants were encountered. In each instance one parent exhibited a similar finding. It is suggested that this procedure should detect a high proportion of the variants of these enzymes characterized by amino acid substitutions not altering molecular charge. Failure to detect more such thermostability variants is interpreted to mean that electrophoresis not only detects amino acid substitutions altering molecular charge but also a considerable proportion of those that do not alter charge.
Surnames in Sardinia|III. the spatial distribution of surnames for testing neutrality of genes
Authors: ZEI G. , PIAZZA A. , MORONI A. , CAVALLI‐SFORZA L. L. 
Published: September 2007

Summary1. A study on heterogeneity of males' surnames over time and space in the island of Sardinia was carried out using data from consanguineous marriages (1800–1970) and telephone directories (1978).2. Variation of frequency of surnames over time is barely significant and 10 times lower than that over space, which is very highly singificant.3. For sufficiently frequent surnames the estimate of the Wahlund variance, calculated form χ2 for heterogeneity in space, is independent of the frequency of a surname: this supplies evidence of neutrality in line with that obtained from the frequency distribution of surnames.4. The Wahlund variance, W (also called FST), decreases regularly as the average size of the area considered (number of individuals per area, N) increases. The estimate of the parameter β in the relation W = KNβ could be of interest for the study of population structure.5. A correction factor of 1/4 must be made on the surnames' variance in consideration of their haploid unisexual transmission.6. It is suggested that surnames could provide a baseline for estimating the value of Wahlund variance under random genetic drift and hence evaluating whether a gene behaves as selectively neutral.7. The distribution of the Wahlund variances obtained from two sets of gene frequency data as compared with that obtained in comparable conditions for surnames in the same areas seems to show that most genes behave as neutral, with the exception of a few, with high W values, which presumably have been under different selection pressures in the area examined.
Recurrence risks in an oligogenic threshold model: the effect of alterations in allele frequency
Authors: KENDLER K. S. , KIDD K. K. 
Published: September 2007

SUMMARYThe polygenic threshold model assumes that the distribution of the underlying liability is approximately normal. This paper examines the impact of deviations from normality in the underlying liability distribution when the number of loci affecting liability is finite, but large (e.g. 5–10). Skewness and kurtosis of the liability distribution are produced by varying the frequency of pathogenic alleles while population risk of illness is held constant by parallel changes in the threshold of manifestation. For a given population risk of illness, the recurrence risk in relatives varies widely as a function of the shape of the liability distribution. These results raise questions about the accuracy of the polygenic threshold approximation for the calculation of recurrence risks for human ‘polygenic’ disorders.
The hypervariable gene locus PUM, which codes for the tumour associated epithelial mucins, is located on chromosome 1, within the region 1g21–24
Authors: SWALLOW D. M. , GENDLER S. , GRIFFITHS B. , KEARNEY A. , POVEY S. , SHEER D. , PALMER R. W. , TAYLOR‐PAPADIMITRIOU J. 
Published: September 2007

SummaryA single hypervariable autosomal gene locus, PUM, codes for a family of mucin‐type glycoproteins present in human urine, and in several other normal and malignant tissues of epithelial origin. These mucins can be detected after electrophoresis using a series of monoclonal antibodies that show a pronounced tumour specificity on immunohistochemistry. Using a recently cloned cDNA, pMUC 10, coding for the core protein of the PUM coded mucins, to probe DNA isolated from a series of human‐rodent somatic cell hybrids, we have assigned the PUM locus to chromosome 1. This assignment was confirmed by in situ hybridization of pMUC10 to lymphocyte metaphase chromosomes and the gene was shown to be located within the region 1g21–24.We would like to thank Dr. Ellen Solomon and DrMary Davis for supplying us with unpublished information and material from their hybrids, and Mrs Lynne West for help with karyotype analysis. A. K. is supported by the ICRF.
The chromosome 19 linkage group LDLR, C3, LW, APOC2, LU, SE in man
Authors: LEWIS M. , KAITA H. , COGHLAN G. , PHILIPPS S. , BELCHER E. , McALPINE P. J. , COOPLAND G. R. , WOODS R. A. 
Published: September 2007

SummaryThe data establish linkage in both sexes for LDLR:LW (ž= 8.43 at θ= 0.00) and in the male for LDLR:LU (ž= 3.31 at θ= 0.00) and for LW:APOC2 (ž= 3.90 at θ= 0.00) They confirm LDLR:C3 and APOC2:LU linkage in both sexes, and LW:LU linkage in the male. The loci constitute two tightly linked gene clusters, LDLR, C3, LW and APOC2, LU, SE, distinguished by measurable linkage in female meioses within but not between clusters. Argument is supported for a 19p13.2‐cen position for LW and a long arm position for LU and SE.
Familiarity, recessivity and germline mosaicism
Authors: EDWARDS J. H. 
Published: September 2007

SummaryIn man evidence of autosomal recessive disease is usually based on a high sib risk, absence of parent‐child transmission and increased consanguinity. Discrimination from what are sometimes termed multifactorial disorders and their associated environmental effects is usually based on the latter having a lower recurrence risk, an increased recurrence risk after a second affected child and no increase in consanguinity.Another cause of familial disorders with recurrence restricted to sibs which has received little attention is germline mosaicism for a mutation expressed as a dominant. If, for example, an embryonic mutation resulted in half the precursors of the germ cells carrying a mutation with dominant expression, then the proportion of haploid nuclei conveying the mutation, which is the recurrence risk, would be a quarter. If severity precluded reproduction the disorder would tend to be classified as a recessive. While germline mosaicism will rarely be expressed with such a high recurrence risk, the estimation of this risk in rare disorders is difficult due to extreme and unpredictable bias in ascertainment.