bluuebunny/crossref_metadata_2025 huggingface dataset:
Variations and application-oriented terminology engineering
Authors: Daille Béatrice
Published: September 2007

Terminology variation in texts is now a well-known phenomenon, whose amount is estimated to be between 15% to 35%, depending on the domain, text type and kind of variants identified. In this paper, we present different typologies of variants elaborated for application-oriented terminology engineering and synthesise them in order to derive a core of variations. We shall show that the semantic interpretation of the variation depends on the application. Even if terminology variation remains a problem in various applications, it also provides clues that could be exploited in these same applications. We illustrate what benefit they bring and conclude by highlighting future trends of variation studies.
Construction d’une ontologie formelle à partir d’un texte de droit communautaire
Authors: Després Sylvie , Szulman Sylvie
Published: September 2007

This paper describes the construction of a formal application ontology through the worker concept from a community legislation text. Firstly, the terminae method is presented. Then we explain how the text contributes to building this ontology. Afterwards the use of the core legal ontology clo is detailed. The essential points of this study are: the application of the ­terminae method to the legal domain; the introduction of properties for characterizing concepts; and the use of a core legal ontology.
Toward a cross-linguistic comparison of lexical quanta in speech and writing
Authors: Strömqvist Sven , Johansson Victoria , Kriz Sarah , Ragnarsdóttir Hrafnhildur , Aisenman Ravid , Ravid Dorit
Published: September 2007

The present study presents contrastive analyses of task-oriented spoken and written discourse in terms of lexical diversity, lexical density, and word length. In an age-matched within-language comparison (Swedish), written discourse consistently scored higher on these measures. It is suggested that the same type of differences will hold for any language, because of the difference between speech and writing in processing constraints. The absolute scores, however, can vary substantially for reasons of language typology. An extended, cross-linguistic analysis (English, Hebrew, Icelandic, Swedish), focusing on word length, was made to substantiate that claim. Further, cross-age-group comparisons of lexical quanta indicated a dynamic interaction between speech and writing in development. Spoken discourse eventually comes to “learn” from the development of writing.
Subject NP patterning in the development of text production
Authors: Ravid Dorit , van Hell Janet G. , Rosado Elisa , Zamora Anita
Published: September 2007

This paper examines how choice of subject NP types and structures changes in the development of text construction, and the extent of variation in the developmental patterns which are produced in speech and in writing. The population for this study consisted of 80 participants — 40 grade-school children and 40 university-level adults — with 20 participants in each of four languages: Dutch, Hebrew, English, and Spanish. The database for each language-specific analysis consisted of 40 grade-school texts and 40 adult texts. In each group, half were spoken texts and half written, half were narratives and half expository texts: altogether 320 texts. All subject NP slots in each text were counted and classified by category of realization (zero, pronoun, or lexical), by pronoun type (personal vs. impersonal), and by lexical complexity (terminal NPs governing a single lexical noun vs. non-terminal NPs governing more than one lexical noun). In general, the written expositions of adults are the preferred site for lexical subjects and for non-terminal subjects. Among both children and adults, narratives contain more personal subject pronouns, and expository texts contain more impersonal pronouns. Several cross-linguistic differences emerged (mainly between Spanish and the other three languages), reflecting differences in the syntactic, inflectional, and pronominal patternings of the target languages.
The orthographic contrast between two languages
Authors: Pellicer Alejandra
Published: September 2007

This paper reports on the results of a research project in psycholinguistics that studied indigenous Maya children in a town in south-eastern Mexico. On requesting the children (who have scarce formal instruction in Spanish literacy) to write a list of words in their native language (Mayan) and in a second language (Spanish), we discovered a series of graphic and phonological strategies the children use to distinguish between writing in their native language and in Spanish. Maya children work simultaneously on two levels of graphic differentiation. On one hand, they attempt to respect the formal principles of a writing system when writing in Mayan, and in this sense they try to guarantee that their language is written just as any other language (making evident the need to use a graphic system in Mayan). On the other hand, they use unique graphic resources different from those used in Spanish, in an attempt to show that their native language has graphic particularities that distinguish it from other written languages.
The acquisition of spoken forms and written words
Authors: Bleses Dorthe , Thomsen Pia
Published: September 2007

The present study examines the complex interactions between the spoken and the written language in twenty Funish children’s oral and written narratives and a read out task. Both quantitative and qualitative analyses were conducted. First, a comparison of the distribution of the reduction phenomena in the children’s language across the two spoken conditions was made. The second analysis looked at the distribution of spelling errors in the written narratives with respect to sound and reduction related errors both at a general and individual level. Finally, a qualitative analysis of three children’s distribution of the large weak class was performed to evaluate a possible interaction between the children’s three registers: spontaneous speech, reading and writing. The results indicated that (a) there was a significant difference in the distribution of forms across the two spoken modalities, e.g. schwa-assimilations and schwa-drop and Funish forms occurred less in the read out condition than in the spoken narratives; (b) spelling errors were predominately sound related and could be explained as either related to the opaque phoneme to grapheme relation in Danish or to reduction phenomena in the children’s own language; (c) furthermore, there was a significant correlation between spelling errors and a high frequency of reduced forms in the read out condition indicating a close relation between these two modalities.
The apostrophe
Authors: Buncic Daniel
Published: September 2007

The paper provides a new analysis of the apostrophe in various languages which is less redundant and complies better with linguistic intuition than traditional deﬁnitions.

The apostrophe does not mark the omission of letters, as traditionally assumed (English it’s, German auf’m ‘on the’, French l’ami ‘the friend’), but indicates important morpheme boundaries wherever this is necessary for certain reasons. Such an indication of a morpheme boundary can be necessitated by several factors, e.g. the omission of letters (English it’s, German auf’m, French l’ami), proper names (Turkish Ankara’da ‘in Ankara’, English John’s), or graphical code-switching (English two l’s, Russian laptop’ов ‘laptop, gen. pl.’).

This explanation covers even most violations of current orthographic norms, e.g. German Häus’chen ‘small house’, and it has no exceptions whatsoever in formal texts. (English isn’t, German ’nauf ‘up’, French p’tit ‘small’ are mere ‘transcripts’ of colloquial speech.)
Speed and time, texts and sentences
Authors: Biancarosa Gina
Published: September 2007

The objective of this study was to explore the relationship of reading rate to reading comprehension using different scales for reading rate. Although fluency research typically measures reading rate as speed (in words-per-minute) using whole texts as the text unit of interest, reading research investigating situation models measures rate as time (in seconds) using individual sentences as the unit of interest. The current study compared the predictive powers of these contrasting metrics. Time was shown to be the superior metric when both text- and sentence-reading times were included as predictors of comprehension, along with an interaction between them. The time model accounted for the curvilinear nature of the relationship and explained almost half of the variance in comprehension without violating the homoscedasticity assumption.
The vowel path
Authors: Ravid Dorit , Haimowitz Sarit
Published: September 2007

This study probes Hebrew-speaking children’s knowledge about vowel representation by diacritics and by vowel letters in emergent literacy stages, and how this knowledge changes with formal instruction in first grade. Sixteen kindergartners and sixteen first graders were administered two reading tasks, two meta-linguistic explanation tasks, and two writing tasks involving vowels in different phonological and orthographic constructions and morphological roles. The results show that kindergartners already have some knowledge about writing consonants, and proceed to meaningful reading and writing in first grade through learning about writing vowels. Reading and writing syllables were easier than word reading and writing in kindergarten, and converged in first grade. Explaining vowel differences in words was better than in syllables, since children made use of the lexical context. Learning to represent morphemes at word final position by vowel letters emerged gradually in kindergarten, in the following order: H, standing for a and e, then W and Y, representing o, u and i. The development of vowel letters is shown to be dependent on a variety of considerations — orthographic, morphological, phonological, and perceptual. These results are discussed in the context of general theories about the consolidation of spelling.
Sociocultural factors in children’s written narrative production
Authors: Schiff Rachel , Korat Ofra
Published: September 2007

Narrative themes, such as search and discovery, are universal and transcend the modularity of language, culture, time, and physical setting. Narratives share a cohesive organizational structure. This study, by assessing children’s written versions, examines their understanding and integration of the story structure of a series of simple black and white line drawings. The study was conducted with students from the second, fourth, and sixth grades in low and high SES schools. Our results showed that the written narratives of the low SES groups, across the grade levels, had fewer narrative structure elements (overall, inter, and intra episode relationships) than those of their high SES counterparts. Although the results for the high SES groups show a relationship between the narrative structure elements and text length, this relationship is not evident in the low SES results. These results may have implications for future investigation and possible application in educational policy, especially for low SES populations.
Formal and semantic constraints on the interpretation of the suffix ‑s in reading Dutch nominal compounds
Authors: Neijt Anneke , Baayen R. H. , Schreuder Robert
Published: September 2007

This study addresses the interpretation of a Dutch homonymic suffix, s, as it appears in Dutch compounds. In a series of reading experiments we manipulated the presence versus absence of this suffix in existing compounds as well as in compounds with a pseudoword as left constituent. We observed an asymmetry in the effects of addition and deletion, with deletion not affecting response latencies, and addition leading to increased identification latencies and, conditional on the phonological structure of the left constituent, to a plural interpretation of the left constituent. Our results illustrate how phonological and semantic constraints conspire to induce a plural interpretation of this homonymic suffix.
Orthographic innovations and variations in contemporary Ukrainian
Authors: Nedashkivska Alla
Published: September 2007

This article discusses certain orthographic issues facing contemporary Ukrainian. Innovations and variations found in electronic media texts are analyzed. The media, which validates orthographic innovations and variations, is viewed as the principal language planner of Ukrainian, one that promotes a new orientation for society and a new cultural identity of its members. Orthography is discussed as a social practice that is embedded in the cultural beliefs and transformations of the writers and speakers of the language. The study shows that innovations in the language are signs of modernization and of changing identities of the linguistic community.
Strategic Interaction amongst Australia's East Coast Ports
Authors: Menezes Flavio M. , Pracz Marcin , Tyers Rod
Published: September 2007

Australia's principal container ports, located in its state capitals, are owned and operated by state authorities that largely return profits from port operations to state governments. Since they govern the volumes of trade in most merchandise, they command immense influence over the openness and flexibility of the national economy. In this study, we estimate the elasticities of substitution between container services of ports in Brisbane, Sydney and Melbourne. We also examine the pricing of port services to estimate the extent of their interaction, from which we derive conjectural variations parameters to assess the actual and potential levels of price collusion. The results confirm the conventional wisdom that the degree of substitution between the major east coast ports is small. While this highlights the possibility that these ports possess substantial market power, actual mark ups are considerably smaller than the predicted mark ups, suggesting that the ports' localised monopoly power is constrained by factors other than price competition.
Providing Duty‐Free Access to Australian Markets for Least‐Developed Countries: A General Equilibrium Analysis
Authors: Zhang Xiao‐guang , Verikios George
Published: September 2007

The Doha ministerial declaration commits WTO members to liberalising access to their markets for least‐developed countries (LDCs). Preferential trade policies have diverse impacts on the initiating country and its trading partners. These effects are of concern to scholars and policy makers. We use Australia as a case study to quantify the direct and indirect effects of providing preferential access to LDC imports entering Australian markets, using a general equilibrium model of the world economy. LDCs are projected to benefit and Australia is predicted to lose, reflecting adverse terms of trade effects. However, the magnitude of the adverse effect on Australia is small. If one was to view this initiative as an exercise in foreign aid, it suggests that Australia can provide a significant benefit to the poorest nations with which it trades, at almost no cost to itself.
The Affianced
Authors: REDGROVE PETER
Published: September 2007

Sylvia Plath: The Colossus and Other Poems

Graham Hough: Legends and Pastorals

Thistles and Roses, by Iain Crichton Smith

The Astronomy of Love, by Jon Stallworthy

Heart's Needle, by W. D. Snodgrass

The Map of Clay, by Jack Clemo

Once Bitten Twice Bitten, by Peter Porter

M. H. Abrams. The Mirror and the Lamp: Romantic Theory and the Critical Tradition. Paper back edition

Maurice Maeterlinck: A Study of his Life and Thought, by W. D. Halls

Donald Davie, The Heyday of Sir Walter Scott

Roger Asselineau. The Evolution of Walt Whitman; The Creation of a Personality
Georgics of the Mind: The Experience of Bacon's Essays1
Authors: FISH STANLEY
Published: September 2007

‘And surely if the purpose be in good earnest not to write at leisure that which men may read at leisure, but really to instruct and suborn action and active life, these Georgics of the mind, concerning the husbandry and tillage thereof, are no less worthy than the heroical descriptions of Virtue, Duty, and Felicity.]—The Advancement of Learning.
The Quiet Craft
Authors: GARFITT ROGER
Published: September 2007

a retirement gift for Lilian Hersee, needlework teacher
Pornography ‐ what is the problem?1
Authors: CAMERON DEBORAH
Published: September 2007

Introduction

I am among those feminists who believe that there is a problem with pornography, and more generally with the repertoire of culturally available representations of sex and gender. What I take the problem to be will, I hope, become clearer below; but in the first instance, I want to focus on the problem of defining the problem.
The headscarf
Authors: GÉBLER CARLO
Published: September 2007

Michael went out the kitchen door, then turned and waved to her through the window. She heard his shoes scuffing on the concrete, and a moment later the van moved off. Then silence, and now the day was hers.
Pornography and feminism: is law the answer?
Authors: BROWN BEVERLEY
Published: September 2007

The main focus of this paper is the ways in which pornography is seen as a problem by feminists ‐ and how these definitions relate in turn to the perceptions of other discourses, political and legal. Situating feminist accounts in relation to other political frameworks is important here because it raises questions about the conditions of intelligibility of feminism, of what can be said and what can be heard in a climate where the dominant language is liberalism.
Extracts from Granada
Authors: ASHOUR RADWA
Published: September 2007

Radwa Ashour is Professor of Literature at Ain Shams University in Cairo. Her trilogy Granada, Mariama & Exodus was brought to CQ's attention by Moustapha Safouan, who felt that it was one of the few works in Arabic that could equal both narratively and linguistically the achievements of the European novel. CQ is proud to have persuaded Professor Ashour to translate some opening passages of her own work. It is hoped that a full English translation of this major work will soon be available.
A TEST FOR SEGREGATION RATIOS IN FAMILY DATA
Authors: SMITH By C. A. B.
Published: September 2007

A method is given for checking the agreement of the observed segregation of a character in family data, and the expected segregations calculated on the basis of Mendelian ratios and the Hardy‐Weinberg formulae. The method is only worked out in detail for the simple case of two alleles, one recessive to the other; in principle it could be extended to multiple alleles.
MUTATION IN THE SEX‐LINKED RECESSIVE TYPE OF MUSCULAR DYSTROPHY. A POSSIBLE SEX DIFFERENCE
Authors: HALDANE By J. B. S.
Published: September 2007

An analysis of data on sex‐linked recessive muscular dystrophy of the Duchenne type suggests that the mutation rate is greater in males than females. It cannot be much less.
THE INHERITANCE OF HUMAN BIRTH WEIGHT*
Authors: MORTON By NEWTON E.
Published: September 2007

Japanese data on half‐sibs, twins, full sibs and consanguineous matings are consistent with the hypothesis that the resemblance in birth weight of sibs is largely attributable to the maternal constitution or environment, not to genetic similarity of sibs. The following intraclass correlations were obtained: paternal half‐sibs, 0·102; maternal half‐sibs adjacent in birth order. 0·581; like‐sexed twins, 0·557; unlike‐sexed twins, 0·655; full sibs adjacent in birth order. 0·523; full sibs with one sib intervening, 0·425; full sibs with two sibs intervening. 0·363; full sibs adjacent in birth order, whose parents are first cousins, 0·481. No significant effect of inbreeding was observed on the variance of birth weight or the correlation between sibs, but inbreeding of the foetus did appear to affect mean birth weight, 10% inbreeding being estimated to decrease birth weight by about 4·3 decagrams. Other data on the genetics of mammalian body weight are reviewed.
BLOOD GROUPS OF THE NORTHERN NILOTES
Authors: ROBERTS By D. F. , IKIN ELIZABETH W. , MOURANT A. E.
Published: September 2007

Frequencies are given of A1A2BO, MNS, Rh, P, Lutheran, Hunter and Henshaw blood groups among Dinka, Nuer, Shilluk and Mabaan, of Upper Nile Province, Sudan. The Mabaan appear to be distinct from the three Northern Nilotic peoples who, the results indicate, are genetically similar to each other. The results are compared with those from other African samples, and it appears that the general classification of East African peoples on cultural grounds is supported by the evidence of the ABO blood groups. It is suggested that the Northern Nilotes may, like the Bushmen, be surviving representatives of an ancient African stock whence has been derived a major component of the present day population of Africa.
GENETICAL INVESTIGATIONS IN A NORTH‐SWEDISH POPULATION
Authors: BööK J. A.
Published: September 2007

An attempt has been made to outline the genetical demography of a geographically relatively isolated north Swedish population during 1900–50. The region, which is divided into three parishes, P, J and M, was characterized by high birth‐rates and low in‐migration rates. The main results were as follows:

(1) The mean inbreeding coefficient was estimated at 0·002 for the total population and for the parishes P, J and M at 0·0008, 0·0024 and 0·0058 respectively.

(2) The mean effective population size of the parishes P, J and M was estimated at about 650, 300 and 150 for the period 1900–50.

(3) The analysis indicated that the population of the total area should not be regarded as one breeding unit but rather a minimum of 3.

(4) The distribution of two well‐defined simple recessive morbid conditions was studied. Genetical spastic oligophrenia, an entity discovered in this population, occurred with an average frequency of 2·6 per 1000 births. The incidence in the most isolated parish, M, was significantly high as compared with P + J. Recessive deaf mutism occurred with a frequency of 1·3 per 1000, which is close to three times the average for Sweden. This difference, and the occurrence of a specific genetical defect in this population, may be interpreted as mainly due to random gene fluctuations.
THE NUMBERS OF HUMAN MULTIPLE BIRTHS
Authors: BULMER M. G.
Published: September 2007

Summary

It is suggested that the two processes leading to multiple births (release of extra eggs and division of the embryo) are independent, random events. Deductions from this hypothesis made by other authors are shown to be incorrect and the correct formulae are derived. It is shown that these formulae predict correctly the numbers and types of triplet maternities but underestimate the number of quadruplet maternities.
ESTIMATES OF THE SEX RATIO OF MUTATION RATES IN SEX‐LINKED CONDITIONS BY THE METHOD OF MAXIMUM LIKELIHOOD
Authors: SMITH C. A. B. , KILPATRICK S. J.
Published: September 2007

The method of maximum likelihood is used to provide estimates of the ratio of the mutation rate in females and males, for a sex‐linked recessive trait, Duchenne type muscular dystrophy on three surveys from the literature.

One of the estimates (from the Northumberland and Durham data) appears to be significantly lower than the other two. There is a corresponding deficit of single affected fraternities in this survey on the assumption that a detectable mutation rate exists.

The combined estimate for Northern Ireland and Utah, x = 0.3506 ± 0.1110, is taken as the best available estimate. This leads to a sex ratio (μ/v) of 1.1734 which is consistent with equal mutation rates.
MECHANICS OF SELF‐REPRODUCTION
Authors: PENROSE L. S.
Published: September 2007

The construction of various types of machines which can be automatically self‐reproducing, in a sense derived from von Neumann, has been outlined. The features, which any such machine must possess, have been discussed and their possible significance in the understanding of DNA replication has been indicated.

I am much indebted to Dr C. A. B. Smith for his valuable suggestions in the interest of making this paper comprehensible, and to Mr A. J. Lee for his admirable drawings.
MICROCEPHALY IN THE NETHERLANDS: A CLINICAL AND GENETICAL STUDY
Authors: VAN DEN BOSCH J.
Published: September 2007

Data were collected on the incidence, geographical distribution, and genetical aspects of 113 cases of microcephaly in the Netherlands: thirty‐nine cases, or about 34 %, appeared to be of special genetic origin.

In the ‘genetic’ material the sex ratio (twenty‐seven boys, twelve girls) appeared to be deviating from the total population ratio of approximately 1:1, but proved to be in accordance with the expectation, 1.56:1, for a population of mentally defective children cared for in institutions in the Netherlands.

Consanguinity among the parents of the ‘genetic’ propositi was found in 54 % of the cases. In 23% the parents were first cousins. In 24% no genetical arguments could be shown to exist for the diagnosis ‘special genetic type’. In 24 % the only confirmation on genetical grounds was the existence of more cases in sibship and/or family.

The most likely ratio of microcephalic to normal sibs was 0.362, σ= 0.0597. The deviation from the expected ratio in recessivity, 0.25, is 0.112, or 1.88 times the standard deviation, so it seems likely that, in our material, recessive genes are playing an important part.

The incidence of special genetic microcephaly is about 1:250,000 in the Netherlands, of all microcephaly about 1:93,000.

The difficulties encountered by the investigator are discussed.
A NEW GENETIC POPULATION MODEL, AND ITS APPROACH TO HOMOZYGOSITY
Authors: WATTERSON G. A.
Published: September 2007

A simple genetic population is considered in which births occur in succession, but each birth entails the death of one parent. The asymptotic rate of approach to homozygosity for this population is shown to depend on the degree of positive assortative mating inherent in the mating system, and the rate decreases with increasing assortative mating, except for complete positive assortative mating, when the rate is very fast. The probabilities of the gene frequencies having specified values after many generations are found, and gene fixation will always occur except in a population practising complete positive assortative mating.

The results for this model are compared with those obtained for other models studied by Wright and Moran, and it is found that the present model is very similar to Wright's model under random mating but, otherwise, substantial differences in behaviour may occur.
FAMILIAL ALZHEIMER'S DISEASE
Authors: WHEELAN LORNA
Published: September 2007

1. A family was recorded in which two family members, out of a sibship of ten, were investigated in hospital and had the clinical diagnosis of Alzheimer's disease confirmed by post‐mortem examination in both cases. In addition, two sisters, one brother and the mother, were reported to have suffered from a similar illness, and may be considered to have had the same condition.

2. Blood grouping was carried out on thirty‐one members of the family, an investigation designed to study genetic linkage. This section of the study is reported by Dr R. R. Race in an appended note.

3. The symptomatology of the family members conformed in most aspects with the numerous clinical descriptions, but certain symptoms like motor restlessness and epileptic fits were not prominent. The age of onset was slightly earlier in females than in males, and there was a preponderance of females. The family pedigree suggested a dominant mode of inheritance. The theory of multifactorial inheritance with varying threshold differences in families may explain the differences in manifestation of the disease.

4. A further investigation of the hospital records was carried out. Twenty cases of clinically diagnosed Alzheimer's disease and one pathologically verified case were studied. This revealed three more familial cases, and in one of these the diagnosis had been proved to be Alzheimer's disease in one family member on post‐mortem examination.

5. The findings of the whole investigation suggested that familial Alzheimer's disease was more common than has been previously stressed, and indicated the need for more detailed studies of affected families.
A NOTE ON THE EFFECTS OF METHOD OF ASCERTAINMENT ON SEGREGATION RATIOS
Authors: SMITH CEDRIC A. B.
Published: September 2007

The problem of considering segregation ratios for rare conditions is considered. Methods of estimating this segregation ratio are described for the cases of complete ascertainment, and probability of ascertainment proportional to the number of affected; tests for homogeneity of the segregation ratio are also described. Some comments are made on estimation procedures described by previous workers.
Micro‐evolution among the Susak islanders. Inbreeding, sterility, blood groups and red hair
Authors: DOLINAR ZLATA
Published: September 2007

Endogamy and inbreeding are characteristics of the Susak population. In the present reproductive generation there is no full first‐cousin mating. Total consanguinity is 8.6 % and this is half as high as is required by random mating. The marriages of more remote relatives (beyond F2C) are as frequent as over 16 % of all matings in generation III. This frequency is similar to that required by random mating. Only for the youngest generation inbreeding coefficients were included for the determination of the mean coefficient. Their range is 0.0312–0.0020. The mean inbreeding coefficient for inbred individuals is 0.0141, and the mean for the whole generation I is 0.0026. For inbreeding coefficients consanguineous marriages of the previous generations are not taken into account. Among related sibships sterility appears to be raised, its frequency being over 13 %. The second‐cousin matings contribute the most to the mean inbreeding coefficient.

The frequency of red‐haired persons is high. Our rough estimate gave 14 % of carriers with visible components for red‐haimess. There is no obvious connexion between inbreeding and red‐hairness. Among red‐haired individuals there are no carriers of the gene B. There is a higher ratio of O to A blood groups.

The proportions of blood groups show very few B, many O, and even more A. This special ABO distribution could be the result of genetic drift. The distribution between the generations, as well as between the sexes, is not significantly different. The gene inflow in generation II is 4.36 %. Concerning O × A matings and their offspring we could not find any influence of natural selection. On the other hand, among A infants from A mothers there was a different proportion of sexes from that among O children from O mothers.
Birth weight and related variables for offspring of mothers aged 42 or more years
Authors: BARRAI I. , FRACCARO M. , LINDSTEN J. , ZEI GIANNA
Published: September 2007

Birth weight and related variables are analysed in a sample of 960 babies born in three Swedish Maternity Clinics to mothers aged 42 years on more. The sample is analysed by sex and survival (1 week), and means and standard deviation are calculated accordingly. Correlation and partial correlation and analysis show that the variation in birth weight, which increases with parity, is associated more with succession of births than with parental ages. There is a significant deviation from independence of sex ratio with parity, and the highest contribution to x2 is given by the first parity. There is found a significant parabolic regression of sex ratio on parity. This indicates that parity per se is more relevant in determining the slight changes in sex ratio than parental ages, of which they are independent.

The proportion of non‐survivors is significantly higher than the comparable incidence for the general population of births in Sweden. The birth weight associated with the lowest mortality is higher than the means in both males and females. This has been estimated by the use of the 2 value of Penrose.

During the preparation of this paper M. Fraccaro was a guest of the Gruppo di Ricerca 3B del CNEN, at the Institute of Genetics, Pavia. He wishes to thank Prof. L. L. Cavalli Sforza for his kind hospitality.
Glucose‐6‐phosphate dehydrogenase deficiency in the peoples of the Niger Delta
Authors: HARRIS R. , GILLES H. M.
Published: September 2007

1. The results are recorded of screening tests for G6PD enzyme activity in 902 Nigerians chosen at random from Rivers Province in the Niger delta.

2. Evidence is provided of a lowering of mean falciparum ring count among enzyme‐deficient children.

3. The trait frequency amongst males was 21 %.

4. The female results showed a lower frequency of enzyme‐deficient individuals than was expected from the male frequencies.

5. Possible reasons for this were discussed in relation to the problem of a polymorphism at a sex‐linked locus.

This paper was read at a meeting of the Society for the Study of Human Biology (21 April 1961) and represents part of an M.D. thesis submitted by one of us (R.H.) to the University of Liverpool.

The field work was made possible by a Nuffield Foundation Grant and with the co‐operation of the Rural Health Service of the Ministry of Health, Eastern Region, Nigeria. The illustrations were prepared by Mr D. J. Kidd and Mr A. Herbert, Faculty of Medicine, University of Liverpool.

We are deeply indebted to Dr G. A. Harrison, Anthropology Laboratory, Department of Anatomy, University of Liverpool for his many helpful criticisms.
The electron microscopy of unsectioned human chromosomes
Authors: BARNICOT N. A. , HUXLEY H. E.
Published: September 2007

1. A technique is described for transferring spread cells to electron‐microscope grids and for staining the chromosomes with uranium and lead.

2. The appearance of the chromosomes under the electron microscope, especially the acrocentrics, is described.

Our thanks are due to Miss Mary Bogati for technical assistance in the culture work and to Miss Pamela Dyer for help with the electron microscope work. We are also grateful to Prof. L. S. Penrose and Dr J. R. Ellis for providing cells from the case of mongolism here described.
Red cell glucose‐6‐phosphate dehydrogenase activity in individuals with abnormal numbers of X‐chromosomes
Authors: HARRIS H. , HOPKINSON D. A. , SPENCER N. , BROWN W. M. COURT , MANTLE D.
Published: September 2007

Red cell glucose‐6‐phosphate dehydrogenase (G‐6‐PD) activity was measured in fourteen XXX, eleven XX Y, three XO individuals, four individuals who were 17 but had testicular feminization, and in appropriate male and female controls. No evidence for any quantitative relationship between the number of X‐chromosomes present and the level of red‐cell G‐6‐PD activity was observed. Since G‐6‐PD is known to be determined by at least one gene locus in the X‐chromosome, these results in agreement with others imply complete dosage compensation.

In thirteen patients with thyrotoxicosis a significant elevation of the mean level of red cell G‐6‐PD was demonstrated, indicating that such increases could be detected under the general conditions of the investigation.

The results are discussed in terms of various hypotheses accounting for dosage compensation.
Theoretical evidence for an autosomal modifying gene pair in glucose‐6‐phosphate dehydrogenase‐deficient families
Authors: BOWMAN JAMES E. , SMITH SHEILA MAYNARD
Published: September 2007

Various glucose‐6‐phosphate dehydrogenase‐deficient pedigrees from the literature violating classical patterns of sex‐linked inheritance are reviewed and discussed.

It is suggested that anomalous phenotypes observed in these families may be the result of epistatic reactions between the effects of abnormal sex‐linked genes or gene and an autosomal pair.
Nail‐patella syndrome coupled with blood group B in a New Zealand family
Authors: GOODALL C. M.
Published: September 2007

Further evidence for genetical linkage between the nail‐patella and ABO loci has been found in a New Zealand family.

I wish to thank Sir Charles Hercus for his encouragement and Dr A. C. Begg, Mr J. Case, Dr J. B. Howie and Dr D. H. Sutton for their assistance with radiographs and the blood groups. I am particularly grateful to Dr J. H. Renwick for generous and helpful advice and to members of the family for their co‐operation.
Translocation and trisomic mongol sibs
Authors: BARNICOT N. A. , ELLIS J. R. , PENROSE L. S.
Published: September 2007

A family in which there were two mongol sisters is described. Cytological investigation showed that the elder sister had a chromosomal translocation and the younger was a mongol of the standard trisomic type. The translocation chromosome, as observed under the electron microscope, was found to have an unusual centromere structure. Possible origins of the translocation are discussed.

The writers wish to extend their thanks to Dr H. E. Huxley for photographing the preparations under the electron microscope, to Miss Ruth Marshall for red cell antigen typing and for culturing a specimen of peripheral blood, to Dr Sarah B. Holt for analysing the finger dermal ridge patterns, to Mr A. J. Lee for drawings, to Miss Marie Bogati and Mr N. P. Bishun for assistance with fibroblast cultures, to Miss Barbara Warland for family history notes, to Dr D. H. H. Thomas, Dr G. E. B. Scott and Dr J. E. Bowman for assistance with clinical examinations and to Miss H. Lang‐Brown for help in compiling the paper for publication. The work was supported in part by a grant (RG‐6984) from the United States Public Health Service.
P.T.C. tasting among Tucano Indians*
Authors: MONTENEGRO L.
Published: September 2007

The ability to taste P.T.C. was observed among 128 indians not closely related (not parents and children, nor brothers), belonging to the Tucano group of the region of Uauptss, on the upper Negro River, State of Amazonas, Brazil, there being fifty‐five males and seventy‐three females in the sample. The technique used was that of Harris and Kalmus.

In the whole group, the results show a proportion of 6.24% of non‐tasters, with a clear difference in the distribution of the character in the two sexes: 12‐6 % of non‐tasters among males, and 1–4 % among females, which gives a x2 of 6.64, with P =0.01.
The birth weight and survival of Ghanaian twins
Authors: HOLLINGSWORTH M. J. , DUNCAN CATHERINE
Published: September 2007

286 Ghanaian twin births are analysed with regard to birth weight, maternal age, panty and survival. They are compared with similar European data.

There is a significant but unexplained shortage of femalefemale twins.

The differences between the Ghanaian and European twin weights (0.2 1b.) are much less than the differences between the weights of single babies (0.9 1b.).

The very high correlation (r= 0.8) between parity and mother's age in the data is due to the association between twinning and these variables, The high parity of the Ghanaian women may account for their high twin rate.

The mortality rate of Ghanaian twins (15%) is similar to that of Italian twins and lower than that for some English twins (21%). This is shown to be largely due to the lower proportion of low‐weight Ghanaian twin babies. It is suggested that this may be because twinning is a more natural phenomenon in Ghanaian than in European women.
ABO frequencies in mongolism*
Authors: GOODMAN HAROLD O. , THOMAS JAMES J.
Published: September 2007

The ABO blood types of 581 institutionalized mongoloid subjects were determined and compared with blood types of a like number of non‐mongoloid retardates drawn from the same institutions. No significant differences in counties of residence of the two groups were detected. Comparison of the ABO frequencies revealed a slight deficiency of types O and B and a comparable excess of types A and AB among mongoloids, but the differences do not reach conventiond significance levels. Theoretical considerations indicate that the data neither support nor controvert the hypothesis of linkage of the ABO locus to chromosome 21, and that linkage of any locus exhibiting complete dominance will be difficult to establish using population gene frequency analyses, unleea the locus is absolutely linked to the kinetochore and trisomics arise largely or solely through fist meiotic division non‐disjunction.
Taste polymorphism to anetholtrithione and phenylthiocarbamate
Authors: DAWSON W. , WEST G. B. , KALMUS H.
Published: September 2007

The taste thresholds for alcoholic solutions of anetholtrithione (ATTH) in a student sample were found to be bimodally distributed. This substance does not contain the NC=S group which until now has been the only one to produce bimodality. Taste sensitivity to ATTH is highly correlated with PTC sensitivity and presumably is largely controlled by the same alleles.
Is Weinberg's differential rule defective ?
Authors: RENKONEN K. O.
Published: September 2007

The Weinberg differential rule seems to be defective in the sense that the found monozygotic twins are less numerous than expected.

This study has been supported by grants from the Sigrid Jushlius Foundation. I wish to express my thanks to doctor K. E. Bruun for access to the twin series of the Finnish Foundation for Alcohol Research.
Linkage relationships between the three phosphoglucomutase loci PGM1, PGM2 and PGM3
Authors: PARRINGTON JENNIFER M. , CRUICKSHANK GILLIAN , HOPKINSON D. A. , ROBSON ELIZABETH B. , HARRIS HARRY
Published: September 2007

1. Phosphoglucomutase phenotypes have been studied in several generations of the family of an individual heterozygous at each of the three loci, PGM1, PGM2, and PGM3.

2. PGM1 and PGM2 phenotypes were determined using red cells. Fibroblasts grown in tissue culture were used for PGM3 phenotyping.

3. The family results support the genetical hypothesis based on the analysis of dizygotic twin pairs that the PGM3 isozyme patterns found in the placenta are determined by two alleles, PGM13 and PGM23.

4. Locus PGM3 is not closely linked to locus PGM2

5. The data also support the previous findings that locus PGM1 is not closely linked to PGM2 or PGM3.
Twin zygosity and placentation
Authors: CORNEY G. , ROBSON ELIZABETH B. , STRONG S. J.
Published: September 2007

The relationship between placentation and zygosity is discussed in an unselected series of 326 twin births. Zygosity determinations were based on sex, red‐cell antigens ABO, MNSs, Rh, Lua, K and Fa, the red‐cell enzymes Ac. P., 6‐PGD, PGM1 and AK and placental alkaline phosphatase. The results indicate that, whereas dizygotic twins are always dichorionic, between 15% and 20% of monozygotic twins may also be dichorionic. Tables are given which allow information on the enzyme phenotypes to be utilized in estimating the probability of dizygosity in the case of twin pairs alike for all characters tested, where the types of the parents are unknown.
Book reviews
Authors: Pratt. R. T. C.
Published: September 2007

Book reviewed in this article:

The Genetics of Gastro‐Intestinal Disorders. By R. B. Mconnell.

Race and Modern Science. Edited by R. E. Kuttner.

Recent Results in Cancer Research. Volume XII. Hereditary Factors in Carcinoma. By Henry T. Lynch.

Prevention of Cancer. Pointers from Epidemiology. By Richard Doll.

Lékàská Genetika (Medical Genetics). By M. & Ccar; erny.

Malformations associées de la téte et des extrémités. By P. Tridon and M. Thiriet.
Stillbirth and birth order
Authors: JAMES WILLIAM H.
Published: September 2007

SUMMARY AND CONCLUSIONS

1. Some stillbirth sibships are characterized by positive birth‐order effects, and among them some are probably of the sort illustrated by Fig. 1; other stillbirth sibships are characterized by negative order effects, and among them some are probably of the sort illustrated by Fig. 2.

2. The ‘strength’ of these two opposing effects was roughly equal in the sample tested, so there was noover‐alltrend of stillbirths with birth order within sibships.

3. There seem to be a few sibships in which a curvilinear effect is present, with higher risks of stillbirth at the beginning and at the end of the same sibship.

4. Lastly, it seems possible (though no direct evidence on this point has been presented in this paper) that many stillbirths belong to sibships which do not exemplify any appreciable maternal age or order effect.

5. It seems likely that the positive and negative effects are related to specific pathological causes of stillbirth.

6. It seems possible that the occasional sibship seeming to show higher risks at both ends is due to the co‐existence in a single woman of a propensity to bear two types of stillbirth—one type characterized by a positive effect, and the other by a negative effect.

7. The stillbirth ratio declines from the 1st to the 2nd and 3rd birth ranks, and thereafter increases.

8. The initial drop is due to a genuine negative birth order (or maternal age) effect.

9. The subsequent rise seems to be not primarily due to secular changes within individual women (either as a result of maternal age or birth order) but to an association of fertility with proneness to stillbirth. The cause may thus be social rather than biological.

10. The cause of this association is not that a stillbirth is likely to occasion reproductive compensation. (Indeed in this sample, at all the birth ranks up to the ninth, a stillbirth promoted birth limitation instead.)

11. The association of fertility with a propensity to stillbirth may be mediated by social class or by duration of marriage, but it is not clear that the underlying cause of this association has been uncovered.

12. One recommendation would follow from this work if its findings should be confirmed: stillbirth‐prone women on the average have more pregnancies than other women. This fact is a major cause of the variation of stillbirths rate with birth rank. This being so, workers using multivariate analysis may feel the need to scrutinize the assumptions implicit in their models.
Stillbirth, neonatal death and birth interval
Authors: JAMES WILLIAM H.
Published: September 2007

SUMMARY AND CONCLUSIONS

1. The time interval between a confinement and the initiation of a subsequent pregnancy is called a ‘conception delay’. Under some circumstances, the interval between the two confinements (‘birth interval’) is a useful criterion of conception delay.

2. When data from a large sample of women are pooled, both stillbirths and neonatal deaths are associated with both long and short birth intervals.

3. However, there is evidence that brief birth intervals are not associated with stillbirths within sibships. It follows that short conception delays are not a cause of the stillbirths associated with them.

4. In contrast, stillbirths are associated, within sibships, with long birth intervals.

5. The cause of this association cannot be uncovered by analyses of this sort, but it seems very possible that very long conception delays may be one cause: others have been suggested.

6. The evidence in regard to neonatal death is less clear: but on balance, there seems to be an association, within sibships, between neonatal death and short birth intervals. There are grounds for believing this association to be, partly at least, the result of statistical artifacts.
In vitro culture of spleen cells from a case of Gaucher's disease*
Authors: FRACCARO M. , MAGRINI U. , SCAPPATICCI SUSI , ZACCHELLO F.
Published: September 2007

Up to 12 days the cultures were composed in prevalence of bi‐ and multinucleated Gaucher's cells, intermixed with cells of lymphomonocytic type. At 22 days Gaucher's cells were less numerous and at 35 days of culture most cells were fibroblast‐like. Histochemical staining for acid phosphatase activity revealed variation in the appearance of the cytoplasmic distribution of the enzyme, which was granular or diffuse in positive cells, with intermediate stages. Typical Gaucher's cells negative for enzyme activity were also seen. The results indicated that in vivo environmental conditions are essential for formation of Gaucher's cells and support the hypothesis of cerebroside accumulation by phagocytic activity. They further indicated that the increased serum level of acid phosphatase is due to ‘ spillage’ from tissue deposits and therefore has no primary significance in the pathogenesis of the disease.