bluuebunny/crossref_metadata_2025 huggingface dataset:
Understanding chemical terminology
Authors: Reyle Uwe
Published: September 2007

This paper describes the formal properties of a system that understands organic chemical terminology. The system recognises terms in texts, analyses these terms, reconstructs their molecular structure (to the extent it is made explicit in the term), and classifies these terms according to functional and structural properties. The system is able to deal with fully specified chemical terms, underspecified terms such as deoxypentose, class names and terms that are built up by subterms from any of these. Not only the depth of analysis but also its ability to cope with underspecification and class names distinguishes it from other existing systems.
Viticulture and winemaking terminology and terminography
Authors: Nedilko Anatoly
Published: September 2007

The principal aim of this review was to undertake a study of terminological resources relating to winemaking and to discover the origin, development and state of the art of wine terminology. The present study covers all relevant aspects of wine terminology and terminography, and it also digs into history to reconstruct the development and growth of a most fascinating and valuable branch of terminology. Illuminating the context in which wine terminology started its development as a separate branch of general terminology, this study shows different periods and stages of the development of winemaking terminology, reveals the far-reaching linguistic and cultural interpenetration of its word-stock and highlights the dynamics of wine terminology research and analysis in different countries of the world. It develops a classification of winemaking terminological resources, studies links between wine terminology and other industries (e.g. culinary terminology) and explains contribution made by Henri Faes and Eero Alanne to the development of winemaking terminology, as well as contributions by a number of industry professionals.
Verbal structure and content in written discourse
Authors: Ragnarsdóttir Hrafnhildur , Aparici Melina , Cahana-Amitay Dalia , van Hell Janet G. , Viguié-Simon Anne
Published: September 2007

This paper forms a bridge between the article on noun phrase patterning by Ravid et al. 2002 and that on passive voice constructions by Jisa et al. 2002. The study reports on a cross-linguistic, developmental study of verbal structures and verb types used in two genres of written discourse: personal narratives and expository texts. The study is aimed at (a) establishing the profile of linguistic features that characterize and differentiate these two genres; (b) identifying the developmental changes beyond middle childhood that lead to the proficient use of a full repertoire of verbal structures in the construction of both types of text; and (c) providing fresh empirical evidence for cross-linguistic similarities and differences in the linguistic devices used for Genre differentiation. The paper begins to address these issues by considering quantitative aspects of Genre differentiation in four age-groups (grade-school children, junior high school, high school, and adults) and in five languages (Dutch, French, Hebrew, Icelandic, and Spanish). We expected narratives and expository texts to be characterized by contrasting distribution of the categories that we analysed — verb tense, aspect, mood, voice, and person — across the age-groups and languages under study. To test this prediction, all verbs in our sample were analysed using common coding procedures in all five languages, followed by a statistical analysis of the frequency distribution of each coded category (as our dependent variables) across Age and Genre in each of the languages.
Orthographic constraints and frequency effects in complex word identification
Authors: Verhoeven Ludo , Baayen R. H. , Schreuder Robert
Published: September 2007

In an experimental study we explored the role of word frequency and orthographic constraints in the reading of Dutch bisyllabic words. Although Dutch orthography is highly regular, several deviations from a one-to-one correspondence occur. In polysyllabic words, the grapheme E may represent three different vowels: /ε /, /e/, or /œ /. In the experiment, skilled adult readers were presented lists of bisyllabic words containing the vowel E in the initial syllable and the same grapheme or another vowel in the second syllable. We expected word frequency to be related to word latency scores. On the basis of general word frequency data, we also expected the interpretation of the initial syllable as a stressed /e/ to be facilitated as compared to the interpretation of an unstressed /œ /. We found a strong negative correlation between word frequency and latency scores. Moreover, for words with E in either syllable we found a preference for a stressed /e/ interpretation, indicating a lexical frequency effect. The results are discussed with reference to a parallel dual-route model of word decoding.
How to optimize orthography
Authors: Wiese Richard
Published: September 2007

The basic goal of this paper is to provide a formal treatment of “orthographic principles” in terms of optimization. Starting from a discussion of a preference-oriented vs. a rule-oriented systematic theory of orthography, the paper explores an explicit description of orthographic regularities in terms of Optimality Theory, that is, in terms of a theory of constraints and their interaction. The empirical focus of this paper is on German orthography, in particular on sound–letter correspondences, on morphological constancy in the light of phonological alternations, and on the (non-)doubling of graphemes. Interactions of various constraints to specify the relationship between regular and irregular spellings involving these domains on the one hand and phonological forms on the other hand are presented.
Sociolinguistic parallels between choosing scripts and languages
Authors: Unseth Peter
Published: September 2007

This article demonstrates that many of the same concepts and tools developed for the sociolinguistic study of how language communities choose spoken languages can also be profitably applied to the study of how they choose scripts. These similarities include the choice of a language or script to either identify with or create distance from another group, borrowing elements from other languages and scripts, the death of languages and scripts, contact induced change in languages and scripts, and the identification of languages and scripts with gender.
Less skilled comprehenders’ ERPs show sluggish word-to-text integration processes
Authors: Yang Chin Lung , Perfetti Charles A. , Schmalhofer Franz
Published: September 2007

We examined the word-to-text integration processes of less skilled comprehenders using ERPs recorded during text reading. The first sentence of each text controlled the accessibility of an antecedent referent for a critical word, which was the first content word of the second sentence. In the explicit condition, the critical word had occurred in the first sentence; in the paraphrase condition, a word or phrase similar in meaning had occurred in the first sentence; in the inference condition, a referent could have been established during the first sentence only if the reader made a forward inference; a baseline condition provided no obvious antecedent for the critical word. PCA, topographic results, and mean amplitude analyses converged on a picture of integration difficulty. Integration effects emerged in the expected mid-latency ranges for the explicit and inference conditions. The pattern of effects differed from that of skilled comprehenders, who, in another study, showed earlier integration effects for explicit and paraphrase conditions, but not reliably for the inference condition. Paraphrase effects were especially weak and late occurring for less skilled comprehenders. Compared with skilled comprehenders, less skilled comprehenders show slow word-to-text integration processes.
Allophonic perception in developmental dyslexia
Authors: Serniclaes Willy
Published: September 2007

Current theories on dyslexia refer either to phonological or perceptual factors. The phonological theory explains dyslexia by a deficit in phonological awareness which would affect the build-up of grapheme–phoneme correspondences. This is challenged by the magnocellular theory which ascribes dyslexia to a deficit in temporal processing of auditory and visual signals. However, the auditory deficit in dyslexia is not specifically temporal. Further, the perceptual deficit is not merely sensory but cognitive in nature as evidenced by both weaker discrimination of phonological contrasts and stronger discrimination of differences within phonological categories. This reflects a deficit in “Categorical Perception” which is also sometimes associated with a weaker precision of the perceptual boundary between phonemes (“Boundary Precision” deficit). Categorical deficits are more reliable than magnocellular ones and might be no less reliable than those in phonemic awareness. The categorical deficit suggests that dyslexic children perceive speech with allophonic rather than phonemic units, which has straightforward consequences for the acquisition of phoneme–grapheme correspondences and might also explain the other phonological troubles associated with dyslexia.
DIA-MCIS: an importance sampling network randomizer for network motif discovery and other topological observables in transcription networks
Authors: Fusco D. , Bassetti B. , Jona P. , Cosentino Lagomarsino M.
Published: September 2007

Motivation: Transcription networks, and other directed networks can be characterized by some topological observables (e.g. network motifs), that require a suitable randomized network ensemble, typically with the same degree sequences of the original ones. The commonly used algorithms sometimes have long convergence times, and sampling problems. We present here an alternative, based on a variant of the importance sampling Monte Carlo developed by (Chen et al.).

Availability: The algorithm is available at http://wwwteor.mi.infn.it/~bassetti/downloads.html

Contact:  diana.fusco@studenti.unimi.it and marco.cosentino@unimi.it

Supplementary information: Supplementary data are available at Bioinformatics online.
On the Effects of Inflation Shocks in a Small Open Economy
Authors: Mallick Sushanta K. , Mohsin Mohammed
Published: September 2007

The effects of monetary policies remain always an important topic in macroeconomics. In the literature (closed and open economy), there is no theoretical as well as empirical consensus regarding the effects of monetary policies. In this paper we examine the real effects of inflation in an open economy. Australia is a classic example of a small open economy and is known to exercise inflation targeting. Using quarterly data from Australia and employing vector autoregressive (VAR) analysis, we provide evidence that inflation, both in the short and long run, negatively affects durable and non‐durable consumption and investment, and has a positive effect on the current account. Further, we show that consumption of durable goods is more sensitive than the consumption of non‐durables during the initial periods following inflationary shocks.
The Growth of House Prices in Australian Capital Cities: What Do Economic Fundamentals Explain?
Authors: Otto Glenn
Published: September 2007

This paper examines the ability of standard economic factors to explain the growth of real house prices in Australia's capital cities. Dynamic models are estimated for each city with the objective of identifying the major drivers of house price growth rates. The variable mortgage rate is found to be an important influence on growth rates in all eight capital cities. However, the size of the mortgage rate effect can differ substantially between cities. For example a 25 basis point rise in the mortgage rate reduces the long‐run quarterly growth rate of real house prices by about 1 per cent in Sydney compared with only 0.4 per cent in Adelaide. The effects of other economic variables are less systematic, significantly affecting the growth rate of capital gains in some cities but not in others. Nevertheless, for most Australian cities economic factors are found to explain around 40 to 60 per cent of the variation in the growth rate of house prices.
Word in the Desert
Authors: COX C.B. , DYSON A. E.
Published: September 2007

The pessimism which sees all change as change for the worse is a recurrent theme of history, which history has recurrently refuted. Geoffrey Barraclough in An Introduction to Contemporary Histroy. We love apocalypses too much, and crisis ethics and florid extremism with its thrilling language. Moses Herzog.
‘Crow’ and the Cartoons1
Authors: LODGE DAVID
Published: September 2007

Man's and woman's bodies lay without souls.

Dully gaping, foolishly staring, inert

On the flowers of Eden.

God pondered.

The problem was so great, it dragged him asleep.

Crow laughed.
Freak nights
Authors: FOLAN CIARN
Published: September 2007

That summer my mother fell in love with a man who drove an American car. She had been a national school teacher since she was nineteen but she lost her job the previous Christmas because, she said, she couldn't believe in God or the educational System any more. So in the spring she packed up, took me out of fourth class and we moved to a small house in the middle of the country that belonged to one of her distant relatives.
NOTES ON SICKLE‐CELL POLYMOKPHISM
Authors: ALLISON A. C.
Published: September 2007

1. In Africa, as in the United States, the great majority of cases of sickle‐cell anaemia are homozygous for the sickle‐cell gene.

2. Carriers of the sickle‐cell trait, i.e. individuals heterozygous for the sickle‐cell gene, occur in frequencies up to 40 % in Africa, 30 % in India and 17 % in Greece. It is difficult to explain the distribution of the sickle‐cell trait in terms of ancestral origins alone.

3. The incidence of sickle‐cell anaemia is not accurately known, but there is indirect evidence that in Africa, as in the United States, the majority of homozygotes for the sickle‐cell gene are affected. A minority of these homozygotes reaches adult life and reproduces. It is estimated that the fitness of the sickle‐cell homozygote is not more than a quarter that of the heterozygote.

4. The elimination of sickle‐cell genes in cases dying of sickle‐cell anaemia is so rapid that it is very unlikely + hat these genes could be replaced by reourrent mutation. It appears that those who are heterozygous for the sickle‐cell gene are naturally resistant to subtertian malaria, so that they have a selective advantage over the normal homozygotes in regions where malaria is hyperendemic. The sickle‐cell polymorphism would then be the result of a balance determined mainly by the severity of subtertian malaria, which would tend to increase the frequency of the gene, and the elimination of genes in cases of sickle‐cell anaemia. The sickle‐cell trait attains high frequencies, in fact, only in regions where malaria is severe.

5. It is estimated that the fitness of the sickle‐cell heterozygote in malarious environments is 1–26 X the fitness of the normal homozygote.

6. The expected rate of change of the sickle‐cell carrier frequency in populations under different conditions has been calculated. In two instances such an estimate corresponds approximately with the observed data. It seems that the incidence of the sickle‐cell trait may be greater in adults than in young children in populations exposed to malaria, as expected. And the United States Negroes have a lower frequency of the sickle‐cell trait than would be expected on the basis of a one‐third admixture with Caucasian and Indian blood. The fall in frequency would correspond to an elimination of three‐quarters of the homozygotes without heterosis for about 12 generations, i.e. some 300 years.
PHENOTYPES AND GENOTYPES IN CYSTINURIA
Authors: HARRIS H. , MITTWOCH URSULA , ROBSON ELIZABETH B. , WARREN F. L.
Published: September 2007

Quantitative data are presented on the cystine, lysine and arginine excretion in patients with cystine stone formation and in their relatives in twenty‐five families.

It is suggested that two distinct abnormal phenotypes can be differentiated. Phenotype 1 is characterized by a greatly increased excretion of cystine, lysine, arginine and ornithine. Because of the high cystine concentration in the urine cystine stone formation is fairly frequent. Phenotype 2 is characterized by a moderately increased cystine and lysine excretion, whilst the arginine and ornithine excretion is normal or only slightly raised. In this phenotype stone formation occurs only very rarely.

The families fall into two groups with regard to the occurrence of phenotype 2. In one group of families phenotype 2 is not found. In these families the segregation of phenotype 1 is consistent with the hypothesis that it represents the homozygote for a rare recessive gene. This type has been called ‘recessive cystinuria’. In the other group of families phenotype 2 is frequently found. Most of the propositi are of phenotype 1. The distribution of the two abnormal phenotypes in such families is consistent with the hypothesis that phenotype 1 represents the homozygote, and phenotype 2 the heterozygote, of a rare abnormal gene. Two families have propositi of phenotype 2 who, in this instance, happen to have formed stones. These families contain no individuals of phenotype 1. Phenotype 2 again segregates in a manner which suggests that it represents the heterozygote of an abnormal gene. In all families in which phenotype 2 is found the condition has been called ‘incompletely recessive cystinuria’.
MUSCULAR DYSTROPHY IN NORTHERN IRELAND
Authors: STEVENSON A. C. , CHEESEMAN E. A. , HUTH MARY CLARE
Published: September 2007

Sib pairs from twenty‐six Northern Ireland families with at least one member affected by ‘autosomal limb‐girdle muscular dystrophy’ have been examined for linkage between the dystrophy and sex, colour vision, taste sensitivity to phenylthiocarbamide, ABO, Rhesus, Lewis (a), P, MNS and salivary secretion of AB antigens.

The data present no definite signs of linkage; the only significant score obtained by Penrose's sib‐pair method was for Lewis (a) in 128 sib pairs from families in which affected members had no face involvement. In view of the small amount of information available in this isolated instance and the relatively large number of tests made, the evidence for linkage with Lewis (a) in this group of families is unconvincing.
FILTER‐PAPER ELECTROPHORESIS OF MOUSE HAEMOGLOBIN: PRELIMINARY NOTE
Authors: RANNEY HELEN M. , GLUECKSOHN‐WAELSCH SALOME
Published: September 2007

Studies of the electrophoretic haemoglobin patterns in inbred strains of mice have shown two different types of patterns. In three strains, all mice tested had one type of pattern; in five, another type of pattern was found in all animals tested; and in three strains, individual mice showed either one or the other haemoglobin pattern. These data strongly indicate a genetic basis of haemoglobin differences in mice. Further work is needed to determine the exact nature of this genetic basis.
GENETICS OF DERMAL RIDGES: FREQUENCY DISTRIBUTIONS OF TOTAL FINGER RIDGE‐COUNT
Authors: HOLT By SARAH B.
Published: September 2007

Frequency distributions of total ridge‐count are given for a population sample of 825 males and 825 females.

The mean ridge‐count for males is 144·98 (σ= 51·079), for females 127·23 (σ= 52·507). The difference between these means is highly significant by the t test.

The distributions are non‐Gaussian. The skewness (g1) and kurtosis (g2) of each has been calculated. Both distributions are negatively skew and flattened, although the value of g2 in the males only reaches 1·7 times its standard error. The other values are highly significant.
A BLOOD GROUP SURVEY OF THE COUNTY AND CITY OF DUBLIN
Authors: DAWSON G. W. P. , HACKETT W. E. R.
Published: September 2007

Summary

The records of 9867 blood donors who were born in and are still resident in the county of Dublin were sorted into 223 groups according to the areas in which they live.

These groups were progressively summed until six groups, representing donors from the centre of the city, suburbs and rural areas, north and south of the river Liffey, were obtained.

At the summations within each of these six divisions, the areas showed no significant heterogeneity in the proportion of A+AB donors. The proportion of these donors was not the same in each of the six areas; it was highest in the rural areas, lowest in the city centre and intermediate in the suburbs.

No significant heterogeneity either within the six divisions or between these divisions appeared in the proportion of B+AB donors.

The proportion of Rh– donors showed some heterogeneity within the six divisions; a patchiness rather than a pattern. The proportion of these donors appears to be lowest in the rural areas, highest in the city centre and intermediate in the suburbs.

Possible interpretations of the data are discussed, including differential selection in rural and urban areas. The simplest interpretation is that prior to the arrival of the Anglo‐Norman settlers the population of County Dublin had a relatively low proportion of people of group A and a relatively high proportion of people who were Rh‐. The descendants of these people are the main component of the population in the centre of the city. In the rural areas there is a significant proportion of descendants of Anglo‐Norman and later settlers, who had a relatively high proportion of group A and a relatively low proportion of Rh‐.

In accord with this explanation it is noted that even within each of the six areas there is a tendency for the proportion of Rh‐ to be lower among those of group A than among those of groups B and O.
VERZÖGERTE MUTATION BEIM MENSCHEN? EINIGE KRITISCHE BEMERKUNGEN ZU CH. AUERBACHS ARBEIT (1956)
Authors: VOGEL F.
Published: September 2007

Zusammenfassung

Die von Auerbach aufgeworfene Frage, ob man bei der Spalthand Sippe von Graham & Badgley (1955) mit dem Auftreten einer verzögerten Mutation rechnen muβ, wird auf Grund der in der Literatur niedergelegten Beobaohtungen in negativem Sinne beantwortet. Dagegen erhält die Ansicht von Mackenzie & Penrose (1951), daβ bei der von ihnen beobachteten Sippe eine Mosaikmutation vorliegt, eine wesentliche Unterstützung. Die Frage, ob das Auftreten von Mosaik‐mutationen bei diesem Merkmal besonders häufig ist, kann noch nicht entsehieden werden.
COMMENTS ON THE INHERITANCE OF DEAF MUTISM IN NORTHERN IRELAND*
Authors: SLATIS HERMAN M.
Published: September 2007

Summary

It has been shown that a simple recessive mode of inheritance is incompatible with the observed distribution of deafness in Northern Ireland. One possibility is that homozygosity at either of two or more loci is responsible for much of the deafness observed, but that dominant genes account for 15 % or more of the cases of deafness. An alternative series of hypotheses suggests that some of the observed deafness is due to homozygosity at certain loci, but that there are many rare genes in the population which can often produce deafness in persons who are heterozygous for two or more of them. These hypotheses can be combined in a variety of ways.
RECONSIDERATION OF THE LAMBERT PEDIGREE (ICHTHYOSIS HYSTRIX GRAVIOR)
Authors: PENROSE L. S. , STERN CURT
Published: September 2007

The literature on the Lambert family showing ichthyosis hystrix has been fully discussed. Fresh evidence is presented, derived from parish registers, which concerns the pedigree. In consequence of these enquiries it is possible to draft a new pedigree which can be most easily interpreted as representing the effect of an autosomal dominant gene.

A very large number of people have co‐operated in the investigations described in the present paper and the writers would like to express their warmest thanks to all of them. Significant contributions to the collection of relevant material were made by many Suffolk clergymen. Among others who gave invaluable assistance were Drs P. J. Hare, J. B. Lyon, Margaret Penrose, Keith Simpson, Messrs D. Charman, S. G. Flick, H. R. Hipwell, W. R. Le Fanu, M. P. Statham and Miss Helen Lang‐Brown. We are grateful to the librarians of the University of California, Mrs Evelyn E. LeBarron and Mrs Margaret D. W. Uridge, for their interest and help in locating rare bibliographical items.
MARFAN'S SYNDROME IN NORTHERN IRELAND: AN ACCOUNT OF THIRTEEN FAMILIES
Authors: LYNAS MARGARET A.
Published: September 2007

All the subjects in Northern Ireland who have been ascertained to suffer from Marian's syndrome or any incomplete form of this syndrome have been studied. A total of thirty‐one subjects in several generations have been ascertained and twenty‐six of these were living at the time of the survey. Twenty only are resident in Northern Ireland. Strict criteria of acceptance of the disorder have been postulated and it is probable therefore that mild (sporadic cases would be excluded even had they been notified.

The literature on the clinical and hereditary aspects of Marfan's syndrome and the aetiology have been disoussed.
THE BLOOD GROUP FREQUENCIES IN SOME OCCUPATIONAL GROUPS IN COUNTY DUBLIN
Authors: DAWSON G. W. P.
Published: September 2007

1. The frequencies of the ABO blood groups among 9867 donors, born in, and resident in, the county of Dublin have been analysed according to the occupational groups of the donors.

2. The occupational groups used were professional, clerical, skilled manual, and unskilled manual. For women no distinction was made between skilled and unskilled manual workers.

3. With two exceptions no differences in the ABO blood group frequencies between these occupational groups were found which were significant.

4. A similar analysis of the frequencies of Bh ‐ donors in the different occupational groups was carried out. No significant differences were found.

5. The occupational groups are homogeneous in showing a higher frequency of Bh ‐ among O and B donors than among A and AB donors.

6. The possibility that the association between Rh and A is due to the existence of two components in the population that do not intermarry is discussed. It is concluded that unreasonably large differences in blood group frequencies between the postulated components would be required to explain the observed degree of association.
GENETICS OF DERMAL RIDGES: THE RELATION BETWEEN TOTAL RIDGE‐COUNT AND THE VARIABILITY OF COUNTS FROM FINGER TO FINGER
Authors: HOLT SARAH B.
Published: September 2007

Part 1

Frequency distributions for the finger ridge‐count on each of the ten digits in a population sample of 825 males and 825 females are given, together with their respective means and standard deviations.

The highest means are those for digit I, followed in order by those for digits IV, V, III and II.

The mean ridge‐count is significantly greater on each digit in males, the difference being greatest on digit I of both hands.

The mean ridge‐count on the right hand is significantly greater than that on the left on digit I in both sexes and on digit II in females.

Digit II shows the greatest variability in ridge‐count and digit V the least.

Part 2

A value S2, the sum of squares of deviations of the ten separate finger ridge‐counts from their mean, has been used as a measure of the variability between the digits of an individual.

The joint distribution of this variable with the total finger ridge‐count, Q, is given for 825 males and 825 females, respectively.

In both sexes the distribution is arch‐shaped, with entries decreasing from the base to the apex, while the regression of S2 on Q is a curved line. In each case there are signs of trimodality.

The joint distribution of (S/√ 10) and Q is also given for each sex.

The correlation between S2 and Q is negative in both sexes: r=–0–195 ± 0–03 for males and r=—0–12 + 0–03 for females. These values are significant.

The characteristic features of the joint distribution of S2 and Q are discussed with a view to their possible genetic significance.

The data used for this paper are filed in the archives at the Galton Laboratory.
THE RATE OF APPROACH TO HOMOZYGOSITY
Authors: MORAN P. A. P.
Published: September 2007

In Wright's model of a finite population without mutation, the leading term in the expression for the probability that the population is homozygous was obtained approximately by Wright. Kimura obtained a full and exact solution to the corresponding approximating diffusion model. For a new model involving overlapping generations the leading terms in the expansion of the probability can be obtained exactly and these are compared with the corresponding approximation of Kimura type.
MUSCULAR DYSTROPHY IN CHILDHOOD. THE GENETIC ASPECT
Authors: BLYTH HELEN , PUGH B. J.
Published: September 2007

In a study of eighty‐three families of patients with primary muscular dystrophy the index cases are either children or patients in whom muscular weakness was first apparent in childhood. 106 patients examined by the authors are differentiated clinically into: Childhood type (ninety‐six patients examined) represented in seventy‐eight families.

Two subgroups are distinguished:

(1) Severe group with fifty‐six families in which all the affected members are boys. The group is genetically homogeneous, a sex‐linked recessive or, less probably a sex‐limited dominant gene being responsible.

(2) Mild group with twenty‐two families; both sexes are represented amongst those affected. The group is genetically heterogeneous; sex‐linked recessive, autosomal recessive and dominant inheritance are probably all involved.

Reasons are given to support the view that at least two sex‐linked or sex‐limited genes are concerned in the transmission of the childhood type of dystrophy.

Adult types (ten patients examined) represented in five families.

Inheritance is probably dominant in three families and possibly autosomal recessive in two.

An Appendix containing summarized case histories is placed in the archives of the Galton Laboratory.

The authors wish to thank Prof. W. S. Craig and Dr C. O. Carter for their generous advice and encouragement, and the University of Leeds for contributing towards the expense involved in travelling to the homes of patients. In addition one of us (H.B.) was in receipt of a grant from the Eugenics Society 1953–55.

A special debt of gratitude is owed to Paediatricians in the Leeds Region who without exception, gave the authors every facility for studying patients under their care. It is a pleasure to acknowledge equally generous assistance from Dr Hugh Garland who allowed the authors to consult his hospital records.

We are obliged to the Leeds City Coroner for permission to consult reports of two autopsy examinations.

The majority of patients were traced with the unfailing co‐operation of the Medical Officers of the local authorities concerned, many of whom consulted with the authors and made available their school records. Permission to visit patients was invariably requested from the family doctor concerned and was in no case denied and the authors express their appreciation for the tolerance and kindness with which their efforts were rewarded by the parents and relations of children examined.

Finally, the authors wish to thank Prof. Penrose for his advice and Miss M. N. Karn for her interest and help in the preparation of this paper.
TASTE SENSITIVITY TO PHENYL‐THIOUREA IN TUBERCULOSIS AND DIABETES MELLITUS
Authors: AKESSON HANS OLOF
Published: September 2007

The frequency of taste deficiency in a material consisting of 128 tuberculous patients, 106 diabetics and 122 healthy people has been studied by a sorting procedure. All the tested persons were born in Southern Sweden (Gotaland).

No significant difference was found between tuberculous patients and the healthy control group in the proportion of non‐tasters or between the diabetics and the healthy control group.
THE INHERITANCE OF COELIAC DISEASE
Authors: CARTER CEDRIC , SHELDON WILFRID , WALKER COLIN
Published: September 2007

Coeliac disease probably has a common aetiology in the patients who show a striking response to treatment on a gluten‐free diet. A genetic study is reported of eighty‐eight such patients attending the coeliac clinic at The Hospital for Sick Children between 1952 and 1958.

No effect of maternal age, birth order or social class was found on the incidence of the disease. But a definite increase in the incidence was found in the near relations of patients. The risk in the general population is estimated to be about 1 in 3000. In contrast, 5 of 205 brothers and sisters, 2 of 85 fathers, 1 of 580 aunts and uncles, and 1 of 806 cousins had had proved coeliac disease or idiopathic steatorrhea. A few more relatives were probably affected. No increase in other gastro‐intestinal disorders, in allergic disorders, or in diabetes mellitus was found in the relatives.

It is suggested that the family concentration is unlikely to be due simply to a common environment. But it is also probable that the genetic element in the causation of the disease is only a predisposition, and that additional unknown factors determine whether intolerance to gluten develops.
A NOTE ON DEAF MUTISM
Authors: CHUNG C. S. , ROBISON O. W. , MORTON N. E.
Published: September 2007

The congenital deaf mute (HD) population of Northern Ireland, reported by Stevenson & Cheeseman, appears by maximum likelihood segregation analysis and the theory of detrimental equivalents to consist of three types.

1. Autosomal recessives, complete penetrance, 68% of all HD cases, at least several loci, average mutation rate 1 × 10‐5 per locus, carrier frequency 0–080 per gamete.

2. Autosomal dominants, high but not complete penetrance, 22 % of all HD cases, at least two loci, total mutation rate 5 × 10_5 per gamete.

(a) Genes inherited from affected parents, 7 % of all cases.

(b) New mutants inherited from normal parents, 15 % of all cases.

3. Sporadic cases, due to unrecognized infection or more complex genetic mechanisms, 9 % of all cases.

On the evidence, the hypothesis that the (non‐significant) excess of affected boys is due to sex‐linkage can neither be proven nor excluded. Ex hypothesi, sex‐linked cases account for less than 2 % of all HD cases, with a mutation rate of 2 × 10‐6 per X chromosome per generation.

The hypotheses of heterozygote advantage, absence of dominant cases, synergistic effect of nonallelic recessive genes, and hypotruncate selection are shown to be inconsistent with the data. Studies on deaf mutism in other populations do not disagree with these conclusions.

The theory of detrimental equivalents is extended to rare traits with retrospective ascertainment of consanguinity, giving estimates of carrier frequencies, number of loci, and mutation rates for recessive genes.
OBSERVATIONS ON THE RESULTS OF PREGNANCIES IN WOMEN RESIDENT IN BELFAST
Authors: STEVENSON A. C. , DUDGEON M. Y. , McCLURE H. I.
Published: September 2007

The outline data concerning the 1127 abortions identified in 1110 Belfast resident women in 1957 are set out in Table 1.

Data are presented of 1110 women who had 1127 post 4‐week abortions which occurred in Belfast in 1957. These are believed to represent a high proportion of all such abortions which occurred in the city, but the frequency of 11.8 per 1000 pregnancies must be minimal. It is suggested that the true figure lies between this figure and 16 %. There is no evidence to suggest that more than a small fraction of abortions, say 1 %, are criminally induced.

Data are also presented relating to 983 women who had 1002 consecutively admitted abortions in two hospitals (X and Y). This series was studied in more detail as more complete data were available. Aetiological factors are discussed.
A genetical analysis of thirty families with Wilson's disease (hepatolenticular degeneration)
Authors: BEARN A. G.
Published: September 2007

A genetical analysis has been carried out on thirty‐two patients with Wilson's disease from thirty families obtained largely from the New York area. Fourteen of the thirty‐two patients (43.75 %) were of eastern European origin (Jews) and eight (25.0 %) came from the Mediterranean (non‐Jews); both groups came from geographically circumscribed areas.

A number of differences were observed between the patients who were Jews from eastern Europe and the Mediterranean and other groups. The Jews, on an average, tended to have more consanguinity, a later onset of the disease and, consequently, a relatively increased fertility. Clinically there was no predilection for either group to have a particular type of the disease. The Jewish group of patients had an increased variance in the serum copper and ceruloplasmin levels relative to the Mediterranean group. The patients with a normal level of ceruloplasmin came from the eastern Jewish group.

Not all these differences were significant statistically and collection of more cases will be needed before firm conclusions can be drawn. The possibility that the eastern European Jewish population may possess a modifying gene and the possibility that more than one allele is present at the Wilson's disease locus is discussed.

It should be emphasized that the evidence available is insufficient to state that ceruloplasmin is the primary gene product in Wilson's disease. If further evidence lends support to this view it will be necessary to perform structural studies on ceruloplasmin obtained from patients with Wilson's disease of various geographic origins in order to investigate the possibility of chemical allelism.

This manuscript was written during the tenure of the position of Honorary Research Assistant at the Galton Laboratory, London. I am very much indebted to Prof. L. S. Penrose for his constant advice and for his critical reading of the manuscript.
The twinning rate in Europe and Africa
Authors: BULMER M. G.
Published: September 2007

Data are presented on the twinning rate among Europeans and Negroes. The monozygotic twinning rate is constant; there is, however, considerable variation in the dizygotic rate. The dizygotic rate is higher among Negroes than Europeans. There are also variations within these groups. In particular there seems to be a centre of low twinning rate in south‐west Europe.

I should like to thank the following who have gone to great trouble in sending me data: E. A. Barker, Nqutu, Zululand; C. J. Dricot, Leopoldville; S. H. O. Jones, Bathurst, Gambia; Yayoichi Karube, Tokyo; Prof. Lambillon, Leopoldville; J. B. Lawson, Ibadan, Nigeria; J. M. Samson, Johannesburg; Prof. J. B. Stewart, Jamaica; K. H. Uttley, Antigua.
The Klinefelter‐mongolism type of double aneuploidy
Authors: HARNDEN D. G. , MILLER O. J. , PENROSE L. S.
Published: September 2007

Clinical and laboratory details of a previously described case of multiple aneuploidy in man are given. The family history is also described in detail.

The writers wish to thank a number of people who co‐operated in the investigations described in this paper. The testicular biopsy was performed by Mr B. D. Stutter and sections were prepared by Miss M. Mann and Dr P. E. Hughesdon. Steroid analysis was carried out by Dr I. F. Sommerville, Dr W. R. Trotter conducted the tests of thyroid function, Dr Sylvia Lawler typed the red cells and Dr A. Shapiro provided clinical information. For family history data we are indebted to Mrs J. M. Berry, Mr A. L. Hovenden, Mr B. D. Stutter and Miss B. J. Warland.
Changing marriage systems in the Jewish communities of Israel*
Authors: GOLDSCHMIDT ELISABETH , RONEN AMIRAM , RONEN ILANA
Published: September 2007

The rates of consanguinity among the parents of babies born in Israel during 1955‐57 were estimated by screening the maternity wards. First‐cousin marriages ranged between 1 and 2 % in Ashkenazic Jews, while the majority of the other Jewish communities exhibited far higher rates of consanguinity.

There is little basis for the assumption that the incidence of cousin marriages in Jewish groups reflects the sizes of the isolates in the diaspora. The non‐randomness of such unions finds expression in the distinct preference for marriages between the children of like‐sexed sibs.

Cousin marriages between persons originating from different countries testify to some amount of gene flow, which occurred in the recent past between the different groups in the diaspora.

Among several ethnic groups, the marriages concluded after immigration to Israel exhibit a trend towards declining consanguinity rates. While this tendency might merely indicate the break‐up of the smaller isolates, which have hitherto existed within the communities, a process of merging between these larger units has also set in on a very large scale. Ashkenazic Jews originating from different countries intermarry at an increasing rate. At present only a minority of persons belonging to the smaller Ashkenazic groups choose partners of identical origin. Around 10 % of Ashkenazic Jews contract marriages with members of the other communities. Intercommunity marriages between the various non‐Ashkenazic congregations are also very common.

A rough estimate of the genetic risk involved in consanguineous unions was obtained by comparing the mean numbers of live children after different durations of marriage in cousin families and others. In two out of five such comparisons, the cousin families exhibited a small but significant disadvantage. However, no difference in family size could be detected between mothers, who are offspring of first cousins and all other mothers in the sample.

We are greatly indebted to Dr Shaul Merin, who participated in some of the field work during this survey. In the sorting and evaluation of the data we were assisted by Fredy Gruber, Sarah Rapaport, Navah Bloch and Elisheva Barak.

It is a pleasure to acknowledge the courtesy and co‐operation of the medical authorities and the nursing staff of the following maternity wards: Rambam Government Hospital, Haifa; Rothschild Municipal Hospital, Haifa; Hadassah Municipal Hospital, Hakirya, Tel‐Aviv; Governmental Hospital, Tsahalon Division, Jaffa, T.A.; Beilinson Hospital, Petah‐Tiqwa; Hadassah University Hospital, Jerusalem; Bikur Holim General Hospital, Jerusalem; Shaarei Tzedek, General Hospital, Jerusalem.

We are also much obliged to Prof. R. Bachi, Director of the Central Bureau of Statistics, Government of Israel, for consultations and references.
Natural selection and the sex ratio
Authors: BODMER W. F. , EDWARDS A. W. F.
Published: September 2007

We have put Fisher's theory of the control of the sex ratio by Natural Selection on an analytic basis. This has enabled us to derive an expression for the selective advantage attached to reproduction with a given sex ratio, and to show that this depends on the sex ratio at the end of the period in which the offspring incur expenditure by their parents. It is this sex ratio which is probably stabilized near the value one‐half by Natural Selection. The rate of approach of a population to its equilibrium sex ratio depends on the available genetic variance in the sex ratio, and since this is probably small, evolutionary changes in the sex ratio of natural populations will almost certainly be too slow to detect.
A chromatographic study of abnormal urinary amino acid excretion in mutant mice
Authors: BENNETT DOROTHEA
Published: September 2007

Paper chromatography has revealed a proteinuria and generalized aminoaciduria in young mice homozygous for the mutation brain hernia at a time prior to the development of severe polycystic disease. As the polycystic disease becomes established, the urine becomes more dilute than normal.

The urine of very young mice of both mutant and normal genotypes has proved to be excellent material for the chromatographic analysis of amino acids.

The author acknowledges with thanks many helpful discussions with Prof. L. C. Dunn during the course of this project.
The structure of consanguineous marriages and its genetic implications §
Authors: FREIRE‐MAIA N. , FREIRE‐MAIA A.
Published: September 2007

The values of the coefficients of inbreeding for sex‐linked genes have been calculated for each one of the subtypes of first‐cousin once removed, and second‐cousin marriages.

Data are presented on the incidence of the different subtypes of uncle‐niece, aunt‐nephew, first‐cousin, first‐cousin once removed, and second‐cousin marriages in a number of Brazilian populations. The genetic implications of the findings are inferred and discussed.

An analysis is made of the mating system, widely known in ‘primitive’ societies, which favours cross‐cousin marriages and disapproves parallel cousin marriages.

We are highly indebted to the ecclesiastical authorities who made their files available for analysis. Our thanks are also due to Dr R. Deraemaeker for allowing us to present his unpublished data in Table 1.
Some possible effects of birth control on the human sex ratio
Authors: GOODMAN L. A.
Published: September 2007

The discussion presented here is intended to clarify some of the problems arising in an analysis of the possible effects of birth control on the human sex ratio. Formulas are presented indicating some of the ways in which the sex ratio can be modified as a result of the use of birth‐control methods. These formulas lead to different conclusions from those presented in the earlier literature on this subject. Further empirical research, along lines suggested by the considerations arising from the present discussion, is needed. The overall effect of birth control on the sex ratio will depend upon, among other things, the particular kinds of preferences for male offspring that influence the married couples in the population, the particular kinds of preferences for female offspring that influence the married couples in the population, the particular ways in which these preferences affect the parents' decisions as to whether or not to have another child (if they make such decisions), the relation between the parents' decisions and their probability, pt, of bearing a boy, the effectiveness with which these decisions are carried out, the relation between family size and pit the distribution of the pi in the population, and the nature of the v< as a function of all relevant variables.
Frequency of colour blindness in Andhra Pradesh school children
Authors: DRONAMRAJU K. R. , MEERAKHAN P.
Published: September 2007

Out of 292 boys and 272 girls tested for colour blindness in Andhra Pradesh 22 boys and one girl were judged to have abnormal colour vision. Difficulties in classification are emphasized.

We are grateful to Dr H. Kalmus for his advice on the classification of abnormals and to Dr H. Spurway for criticizing the manuscript.
Hand clasping (Spanish data)
Authors: PONS JOSE
Published: September 2007

Manner of hand clasping was investigated in 688 Spaniards. The analysis of the series of unrelated individuals suggests a sexual bimodality in the trait, the female series containing higher R frequency than the male. The frequency of R individuals in both sexes increases with age. The analysis of family data shows some parental influence on the type of hand clasping, but no simple Mendelian mechanism is found. There is no assortative mating.