bluuebunny/crossref_metadata_2025 huggingface dataset:
The effect of translator training on interference and difficulty
Authors: Malkiel Brenda
Published: September 2007

Twenty-two translation students translated two texts using Translog keystroke-monitoring software, once at the beginning of their studies and again three semesters later. Performance on two measures of interference, lexicalizable strings and false cognates, improved significantly among both the students working into L1 and those working into L2. Students working into L1 found the task as difficult after three semesters as they had at the beginning of their studies. For students translating into their L2, translation did get significantly easier as judged by the objective measures of time and keystrokes, but the students’ subjective assessment of difficulty and satisfaction was unchanged. This study also indicates that students appreciate the contribution of translation theory to practice.
Language planning with respect to English into China
Authors: Xiulan Zuo
Published: September 2007

Nowadays a more and more tightly integrated world generally favors the spread of English. Academics all over the world are concerned about the problem of English infiltration and anxious about its consequences, for lexical borrowing is said to be the first sign of language shift and extinction. In China such sentiments and fears are usually demonstrated in language planning programs. The Chinese language has a tradition of purism due to its long history. This paper focuses on the tradition of linguistic purism in lexical borrowing in the Chinese language as well as language planning and language policy towards the infiltration of English words into the Chinese language.
Classifying domain-specific intraterm relations
Authors: Oster Ulrike
Published: September 2007

This paper proposes a tool for the classification of domain-specific intraterm relations. It thus aims to present both the process and the product of classifying these relations. First, a description is given of how semantic relations and — more specifically — intraterm relations are understood and represented. Then, a structured set of relational schemas is presented, based mainly on insights from cognitive semantics and functional linguistics. Finally, the general model is applied to the semantic classification of complex terms. This step is specific in several ways: in the type of relation (internal semantic relations of complex terms), in the subject field (ceramic tile manufacturing) and in the languages analysed (German and Spanish). The advantage of this procedure is that, if applied to different subject fields, the resulting classifications can reach a high degree of specificity, but they are nonetheless comparable due to the fact that they will be based on a common theoretical background and methodology of classification.
Process-oriented terminology management in the domain of Coastal Engineering
Authors: Faber Pamela , Montero Martínez Silvia , Castro Prieto María Rosa , Senso Ruiz José , Prieto Velasco Juan Antonio , León Araúz Pilar , Márquez Linares Carlos , Vega Expósito Miguel
Published: September 2007

This article describes the theoretical premises and methodology presently being used in the development of the PuertoTerm database on Coastal Engineering. In our project there are three foci, which are highly relevant to the elaboration of lexicographic and terminological products: (1) the conceptual organization underlying any knowledge resource; (2) the multidimensional nature of conceptual representations; and (3) knowledge extraction through the use of multilingual corpora. In this sense we propose a frame-based organization of specialized fields in which a dynamic, process-oriented event frame provides the conceptual underpinnings for the location of sub-hierarchies of concepts within a specialized domain event. We explain how frames with semantic and syntactic information can be specified within this type of framework, and also discuss issues regarding concept denomination and terminological meaning, based on the use of definitional schemas for each conceptual category. We also offer a typology of images for the inclusion of graphic information in each entry, depending on the nature of the concept.
Computerized training of the correspondences between phonological and orthographic units
Authors: Hintikka Sini , Aro Mikko , Lyytinen Heikki
Published: September 2007

The outcomes of computerized training in the correspondences between phonological and orthographic units are reported. Forty-four Finnish-speaking first-graders with poor pre-reading skills were assigned to one of two groups, intervention or control. The children in the intervention group received computerized training over a 6-week period (mean 170 minutes in total) while the children in the control group received regular reading instruction only. Although the short intervention program produced accelerated growth in letter naming, no differential outcomes emerged between the groups in terms of reading acquisition. The outcomes for the poorest performers on six cognitive-linguistic disadvantages were analysed to identify the factors mediating responsiveness to the training. In terms of reading acquisition, the intervention was more effective than ordinary instruction for children with low phoneme awareness skills and attention difficulties as defined by teacher ratings.
Matches Struck in the Dark: Virginia Woolfs Moments of Vision
Authors: Beja Morris
Published: September 2007

The great revelation had never come. The great revelation perhaps never did come. Instead there were little daily miracles, illuminations, matches struck unexpectedly in the dark.
Sartre's Nausea: A Modern Classic Revisited
Authors: FLETCHER JOHN
Published: September 2007

A man is always a story‐teller; he lives surrounded by his own stories as well as those of others. Through them he sees everything that happens to him; and he tries to live his life as if he were fictionalizing it. (SARTRE)
The dilemma of the black intellectual
Authors: WEST CORNEL
Published: September 2007

The peculiarities of the American social structure, and the position of the intellectual class within it, make the functional role of the negro intellectual a special one. The negro intellectual must deal intimately with the white power structure and cultural apparatus, and the inner realities of the black world at one and the same time. But in order to function successfully in this role, he has to be acutely aware of the nature of the American social dynamic and how it monitors the ingredients of class stratifications in American society…. Therefore the functional role of the negro intellectual demands that he cannot be absolutely separated from either the black or white world.

Harold Cruse, The Crisis of the Negro Intellectual (1967)
A POSSIBLE CASE OF DELAYED MUTATION IN MAN
Authors: AUERBACH By CHARLOTTE
Published: September 2007

A pedigree of split‐hand (Graham & Badgley, 1955), in which several new mutants appear simultaneously in collateral lines, is tentatively explained on the basis of delayed mutation which resulted in two generations of gonadic mosaics. Parallel cases in Drosophila and the rabbit are described.
BLOOD GROUPS IN ABORTION AND STERILITY*
Authors: GRUBB R. , SJÖSTEDT S.
Published: September 2007

The purpose of the investigation was to study whether blood‐group incompatibility between partners is of importance as a causal factor in disturbed fertility.

The material comprises:

385 marriages in which all–and at least four–pregnancies had terminated with live births.

269 marriages in which, for unknown reasons, at least two pregnancies terminated in intrauterine death of the foetus and abortion.

83 marriages, childless for unknown reasons.

No difference was found between the three series with respect to the frequency of ABO and Rh incompatibility. Nor did the observed distribution of mating classes for MN, Lewis blood groups or secretor and non‐secretor characteristics deviate from that expected.

A statistically highly significant discrepancy was found in the intra‐uterine death series and subseries thereof: the frequency of ABO incompatible matings in mating class husband Rh+: wife Rh+ was about 50%, whereas in matings involving at least one Rh—partner the frequency of ABO incompatible matings was about 20 %. Some implications of this finding are discussed.
BIRTH WEIGHT IN COUSINS
Authors: ROBSON ELIZABETH B.
Published: September 2007

There is a significant positive correlation between the birth weights of maternal first cousins, but not between other first cousins. This is interpreted as evidence for the existence of a maternal genetic factor in the determination of birth weight. Using estimates of the correlation between birth weight in sibs, twins and first cousins, the contribution to the total variance in birth weight of such factors as foetal genotype, maternal genotype and environment are discussed.
TASTE THRESHOLD FOR PHENYL‐THIO‐UREA IN MALAY SCHOOL CHILDREN
Authors: THAMBIPILLAI By V.
Published: September 2007

A total of 237 Malay children (119 girls and 118 boys) were tested with serial dilutions of phenyl‐thio‐urea for their taste threshold. The method used is similar to the first stage of the method described by Harris & Kalmus (1949).

In general the frequency distribution of taste threshold in the Malay children is similar to distributions obtained in other races by various investigators; the distribution is bimodal indicating separate frequency distributions of non‐tasters and tasters. The distributions of taste threshold in the tasters between the two sexes are significantly different. Though previous workers have recorded that the girls are more sensitive than the boys, the taste threshold distributions in the Malay children seem to show that the girls are less sensitive than the boys.

The percentages of non‐tasters among the Malay boys and other rams are compared. The percentage of non‐tasters among the Europeans is large and that among the Chinese and Africans is small. The percentage of non‐tasters among the Malay children is intermediate. These differences are significant.
THE COMPLETED REPRODUCTIVE PERFORMANCES OF 161 COUPLES SELECTED BEFORE MARRIAGE AND CLASSIFIED BY ABO BLOOD GROUP
Authors: REED T. EDWARD , KELLY E. LOWELL
Published: September 2007

Summary

One hundred and sixty‐one engaged white couples, resident in the eastern United States, were blood grouped and, after about 18 years, supplied detailed information on their reproductive history. After classifying the couples by ABO mating type, the possible effect of blood groups on (1) number of pregnancies, (2) number of livebirths, (3) number of stillbirths, (4) number of spontaneous abortions, and (5) interval between marriage and birth of first child was explored. No differences between incompatible (i.e. the husband has A and/or B agglutinogen which is lacking in the wife) and compatible matings were found which were significant at the 0–05 level. However, for the proportion of births which were stillbirths, the probability of the difference between incompatible and compatible matings is 0–0588, the proportion being over three times as high in incompatible matings. These findings and other aspects of the data are discussed. An appendix describing each couple is given.
STUDY OF BLOOD GROUPS AND OTHER GENETICAL CHARACTERS IN SIX GUJARATI ENDOGAMOUS GROUPS IN WESTERN INDIA
Authors: VYAS G. N. , BHATIA H. M. , BANKER D. D. , PURANDARE N. M.
Published: September 2007

1212 subjects from six endogamous groups were investigated for AlA2BO, MN, Eh (‐C, ‐c, ‐D, ‐E) and Duffy blood groups, secretion of ABH substances in saliva, threshold determination of P.T.C. taste reaction and colour‐blindness. The results show an interesting pattern of genetical diversity in these six endogamous groups. The findings have been discussed statistically to assess the overall genetical differences in these endogamous groups.
INHERITANCE OF THE P.T.C. TASTE CHARACTER IN MAN: AN ANALYSIS OF 126 RÁTRHI BRAHMIN FAMILIES OF WEST BENGAL
Authors: DAS S. R.
Published: September 2007

1. P.T.C. taste threshold data for 127 families have been given, of which one family has been rejected on account of illegitimacy.

2. A x2 test by the ‘2×2’ contingency table indicates that the matings in the families studied were random (x2= 097, P>0.3).

3. Analysis of the families by Fisher's method following Race & Sanger (1954) indicated a ‘good fit’ (P > 0.1) between the observed and the expected numbers of T × T as well as T×t (including t×T) families.

4. Fisher's test following Smith (1956) indicated a ‘good fit’ (P>0.1) for the totals of families of each of the types T×T and T × t (also t × T)–each family containing at least one non‐taster child. But a significant discrepancy (P<0.01) was found for the family size 4 of T × T type mating type considered singly.

5. Comparison of x2 calculated on the totals of the observed and the expected numbers of non‐tasters in sibships produced by T × T as well as by T × t (including t×T) matings, each of which contained at least one non‐taster indicated a significant discrepancy (0.05>P>002).

6. Discrepancies have been noticed between the observed and the expected numbers of non‐taster children in the combined family sizes 2 and 3 out of T × T matings, and the family size 4 out of T×t (and t×T) matings–each producing at least one non‐taster child (P<0.01 and P < 0.05, respectively).

7. Totals of x2 values for families of all sizes (calculated separately for each size) in respect of the numbers of non‐taster children indicated a significant discrepancy (P< 0.02) for T×T families, but a satisfactory agreement (P>0.05) for the T×t (including t×T) families–each family containing at least one non‐taster child.

8. Summing up the x2 values calculated on totals under the four different tests following Smith (1956), a single x2 of 13–38 with 4 D.F. was obtained, which finally indicated a significant divergence (P< 0.01) between the theory and the data taken as a whole.

9. It has been suggested that an assumption of incomplete penetrance (say, about 90 %) of the dominant taste gene might interpret the entire P.T.C. data (including the sib‐pair data of Harris & Kalmus, and Das referred to already) more satisfactorily than the simple hypothesis as it stands to‐day.
THE SEX RATIO OF MUTATION RATES OF SEX‐LINKED RECESSIVE GENES IN MAN WITH PARTICULAR REFERENCE TO DUCHENNE TYPE MUSCULAR DYSTROPHY
Authors: CHEESEMAN E. A. , KILPATRICK S. J. , STEVENSON A. C. , SMITH C. A. B.
Published: September 2007

Following a lead given by Haldane (1956), data on sex‐linked recessive Duchenne type muscular dystrophy, reported from Northern Ireland, Northumberland and Durham and Utah, have each been examined by three methods in an attempt to estimate the sex ratio of the mutation rates.

Critical examination of both the available data and the methods suggest that there is no evidence at present to support an hypothesis of a sex difference in the mutation rates.
LINKAGE TESTS INVOLVING THE P BLOOD GROUP LOCUS AND FURTHER DATA ON THE ABO:NAIL‐PATELLA LINKAGE
Authors: LAWLER SYLVIA D. , RENWICK J. H. , HAUGE M. , MOSBECH J. , WILDERVANCK L. S.
Published: September 2007

No convincing evidence of linkage was found when an attempt was made to confirm a suspicion that the P blood group locus was linked both to the nail‐patella locus and to the ABO locus. In the course of this work, the ABO:nail‐patella linkage has been found to be consistent in six additional families and the revised estimate of the recombination fraction is 0–096 ± 0–024.

We wish to thank Prof. L. S. Penrose for the help and interest he has shown in all aspects of this investigation and Dr C. A. B. Smith for guidance in the analyses.

The study of the Danish families was given every encouragement by Prof. T. Kemp and the linguistic shortcomings of two of us were kindly circumvented by Miss Lene Ramvad.

The analysis of the linkage data concerning ABO and P, on the computer made available by the courtesy of Dr F. Yates at Rothamsted Experimental Station, is mainly the work of Mr H. R. Simpson, to whom we are very grateful. We are much indebted to Dr R. R. Race for permission to incorporate in these data material collected by the M.R.C. Blood Group Research Unit.
TASTE THRESHOLDS FOR PHENYLTHIOUREA AMONG JAPANESE
Authors: SALDANHA P. H.
Published: September 2007

Taste thresholds for phenylthiourea were measured among 295 Japanese in Brazil. The frequency of non‐tasters was observed to be 7‐1 ± 1 4 %. This estimate does not differ from those of other Mongoloid groups tested by means of the sorting technique.

The author wishes to express his gratitude to the Rockefeller Foundation for the grant which supported the present work. To Dr A. Brito da Cunha, of the Department of General Biology of the University of São Paulo, Brazil, the author is indebted for suggestions and the critical reading of the manuscript. To Mr Tatsao Ishihara and his daughter Myriam Ishihara as well as to Mr Mario Kajita, the author expresses his thanks for their help, and for permission to perform tests in Japanese schools.
AN ANALYSIS OF GEISSLER'S DATA ON THE HUMAN SEX RATIO
Authors: EDWARDS A. W. F.
Published: September 2007

Skellam's modified binomial distribution is described, and fitted to Geissler's data on the sex ratio in human families of from 2 to 12 children. It is concluded thatp, the probability of a birth being male, varies between families of the same size, having a variance of about 0–0025 amongst a complete cross‐section of a nineteenth‐century German population, and that there is no evidence for the existence of parents only capable of producing unisexual families. Assuming thatpvaries within a family, the apparent anomalies would appear to be explicable. The critical conclusions of Lancaster regarding the reliability of Geissler's data are briefly examined. In an appendix, the derivation of the posterior probability distribution ofpfor a couple with a known number of boys and girls is given.
RETINOBLASTOMA: SOME GENETIC ASPECTS
Authors: SMITH SHEILA MAYNARD , SORSBY ARNOLD
Published: September 2007

1. Between 1920 and 1954, 56 infants who had lost both eyes from bilateral retinoblastoma were admitted to the Sunshine Homes of the Royal National Institute for the Blind, constituting some 5 % of the total of admissions.

2. In 36 cases a relatively full family history could be established. Of 19 children born before 1937, three had died and two were in institutions for mental defectives, leaving 14 potential parents. Actually there were five marriages, and only one of these has so far resulted in the birth of a child. This child, like his father, is affected in both eyes.

3. Reviewing the data in this investigation in the light of other published series it is concluded that:

(i) Most oases of retinoblastoma are unilateral and sporadic.

(ii) Only exceptionally are the offspring of such patients affected. The risk is possibly of the order of 4%.

(iii) When retinoblastoma is transmitted by a parent affected in one eye, the affected offspring commonly suffer from the trouble in both eyes.

(iv) Bilateral retinoblastoma is seen both as an inherited and as a sporadic disorder. Data on the offspring of survivors from sporadic bilateral retinoblastoma are needed to establish whether these cases are indeed sporadic. In the inherited type, the offspring are almost always affected in both eyes.

(v) There is no indication that retinoblastoma is primarily associated with either the mother's or the father's age; it is, however, possible that the affection is more often seen in the later birth ranks.

(vi) The high mutation rates given by earlier observers must be discarded in favour of the considerably lower rate recently given by Vogel.

We are indebted to Mr M. S. Colborne Brown, Education Officer of the Royal National Institute for the Blind and his staff, for making the investigation possible by the facilities and help they gave in following up the records at the Sunshine Homes. We are also indebted to Mr C. S. Petheram of the Welfare Department of the London County Council for additional information on London cases.
ENZYMIC EVIDENCE OF A GALACTOSEMIC TRAIT IN PARENTS OF GALACTOSEMIC CHILDREN*
Authors: KIRKMAN H. N. , BYNUM E.
Published: September 2007

new and quantitative assay for the enzyme Gal‐l‐Puridyl transferase in human erythrocytes makes possible a study of the disease galactosemia and the heterozygous carriers of galactosemia, in which this enzyme is involved. Most heterozygous individuals can be identified by having enzymic activities intermediate between those of normal controls and those of the diseased, in whom no discernible activity is present.

The authors wish to express appreciation to Dr Herman M. Kalckar, in whose laboratory this work was performed, for his encouragement and valuable suggestions.

We are greatly indebted to the following persons for procuring samples of blood used in this study: Drs V. L. O'Donnell, S. P. Dawson, A. Lambdin and especially Drs Jerome Harris, George Donnell and William Bergren.
THE FREQUENCIES OF HAPTOGLOBIN TYPES IN FIVE POPULATIONS*
Authors: SUTTON H. ELDON , NEEL JAMES V. , LIVINGSTONE FRANK B. , BINSON G. , KUNSTADTER PETER , TROMBLEY LAUREN E.
Published: September 2007

Haptoglobin types have been determined by starch gel electrophoresis of blood from five populations. The gene frequencies obtained for allele Hp1 were as follows: American whites, 043; American Negroes, 0.59; African Negroes, 0.72; Apaches, 0.59; and Asiatic Indians, 0.18. In tribes of the Ivory Coast and Liberia, there was a suggestion of a cline which parallels that for haemoglobin S.

Evidence is presented that the condition of ahaptoglobinemia is under genetic control but not by a gene allelic to the Hp1‐Hp2 series. The importance of the ahaptoglobinemic individuals for genetic studies and the possibility of selection in the maintenance of the genetic polymorphism are discussed.

The authors wish to acknowledge the excellent assistance of Alojzia Sandor, who carried out the electrophoretic separations.
THE NUMBERS OF AUNTS AND UNCLES OF NORMAL AND CONGENITALLY ABNORMAL CHILDREN
Authors: KNOX GEORGE
Published: September 2007

Published muscular dystrophy pedigrees showed asymmetries in the numbers of maternal and paternal aunts and uncles. The question arose of the numbers which should be expected for normal children and it was deduced that symmetry was a reasonable expectation. This was confirmed in a sample of normal children.

The analysis was then extended to the families of propositi with other congenital abnormalities, mongolism, exomphalos, congenital heart disease, patent ductus arteriosus and infantile pyloric stenosis. Other asymmetries of numbers were found with respect to the sex of the propositus, of the parent, and of the parents' sibs. It was concluded that at least some of these findings were related to the factors determining the occurrence of the abnormalities.
A CONTRIBUTION TO THE STUDY OF BIRTH WEIGHT AND SURVIVAL OF TWINS BASED ON AN INDIAN SAMPLE
Authors: NAMBOODIRI N. K. , BALAKRISHNAN V.
Published: September 2007

An Indian sample of 277 twins has been analysed with a view to assessing the influences of certain factors on birth weight and survival. The twin birth rate shows an increasing trend with parity as well as with maternal age, the overall rate being 1 in 59. Males have higher mean birth weight than females. The means of birth weight, parity and maternal age are higher for unlike‐sex twins than those for the other group. The trend of birth weight over parity for given maternal age seems to be curvilinear. No consistent trend of the same with maternal age, parity fixed, emerges. Birth weight of one twin seems to have linear regression on that of the other. Mortality is highest for the first‐born. The trend of the rate of mortality over maternal age is highest at the lower and upper groups with a minimum in the age group 28–32. Neither sex nor group is found to have a significant differential effect on survival.
A GENETICAL STUDY OF ETHANOLAMINE PHOSPHATE EXCRETION IN HYPOPHOSPHATASIA
Authors: HARRIS H. , ROBSON E. B.
Published: September 2007

The ethanolamine phosphate excretion of 381 relatives of sixteen cases of hypophosphatasia was studied by paper chromatography. Eighty‐one of these individuals excreted small, but significantly abnormal amounts of ethanolamine phosphate. Their relationship to the patients suggested that they were heterozygous for the rare gene causing the full syndrome of hypophosphatasia in homozygotes. All the heterozygotes expected could not be detected using the methods employed, but it was estimated that 58 % could be demonstrated. The rate of manifestation was not significantly different in different groups of relatives, nor was it affected by age or sex. A positive sib‐sib correlation with regard to rate of manifestation, and the absence of any such correlation between parent and child was interpreted as meaning that there may be more than one allele at the locus under consideration.
The chromosomes in two patients with Klinefelter syndrome
Authors: BERGMAN S. , REITALU J. , NOWAKOWSKI H. , LENZ W.
Published: September 2007

Serially grown cultures of skin cells from two Klinefelter patients were established for the purpose of obtaining material for chromosome analysis. In both cases the prevailing chromosome number was 47, probably representing the normal autosomes and XX Y. In both cases, chromosome numbers above 47 were seen. This deviation from the modal number was more pronounced in one of the two cases, in which some 30 % of the cells had forty‐eight or forty‐nine chromosomes. The nature of the extra chromosomes in these cells is discussed.
Distribution and sequences of sexes in a selected sample of Swedish families
Authors: EDWARDS A. W. F. , FRACCARO M.
Published: September 2007

In an analysis of data on the human sex ratio, comprising some 23,700 births, we have been unable to find any evidence that the determination of sex is not a chance effect. We have tested for variations of the probability of a birth being male between families, and between births; for the existence of a correlation between the sexes of births separated by none, one, and two other births in a family; and whether the continuation of procreation in a family is influenced by the sexes of the children previously born.

We compare our result with findings from other samples, and conclude that it would be unwise to draw any general biological inferences.

We wish to thank Prof. J. A. Book for permission to use the data. The original tabulation was made on the initiative of the late Prof. G. Dahlberg by Mr E. Lander, to whom we are very much indebted for valuable advice.

One of us (A.W.F.E.) is particularly grateful to the Scandinavian Studies Fund of the University of Cambridge for financial help.
Genetics of dermal ridges: familial correlations for (S/√10), a measurement of the diversity of ridge‐counts from finger to finger
Authors: HOLT SARAH B.
Published: September 2007

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 diversity between the digits of an individual.

Familial correlations have been estimated using a diversity index, the function (S/√10), which is more symmetrically distributed than S2 in a population sample (though the distribution is not Gaussian).

Parent‐child, sib‐pair and dizygotic twin‐pair correlations are approximately 1/4, while the monozygotic twin correlation coefficient is 0–73 ± 0–06.

It is concluded that the diversity of the ridge‐count from finger to finger has a genetic basis, but environmental influences during early pre‐natal development have a considerable effect.

S2 values for parents, children, additional sibs and twins are given in the Appendix.

The data used for this paper are filed in the Archives at the Galton Laboratory.
Genetics of haemoglobin H
Authors: KOLER ROBERT D. , RIGAS DEMETRIOS A.
Published: September 2007

Additional studies are reported on the first family reported with haemoglobin H disease. These include the finding of a second fast minor haemoglobin in two of the subjects with haemoglobin H. This component does not have the alkaline resistance or ultra‐violet spectrum of foetal haemoglobin and is slower than Bart's haemoglobin on electrophoresis at pH 8‐6; it is, therefore, not Bart's haemoglobin. Another sibling has been studied and has thalassaemia trait. The current literature and hypotheses to explain the inheritance of haemoglobin H disease are reviewed.
A factorial analysis of sex ratio data
Authors: Edwards A. W. F.
Published: September 2007

The application of a factorial analysis of x2 to sex ratio data is discussed. It is shown how such an analysis resolves the main sources of variation in binomial data. Some extensive data are treated by this method, and it is concluded that they provide good evidence for a positive association between the sexes of successive children in a family.
Rare genetic conditions among the Gaingang Indians
Authors: SALZANO FRANCISCO M.
Published: September 2007

1. The total frequency of colour blindness among 245 Caingang Indians and Mestizos males is 4–49 %. But there exists variation of this frequency in the populations sampled.

2. Several pedigrees are given of kindreds in which some members present Polydactyly or albinism. The high frequency of this last condition in one population is stressed.

3. A general discussion of the data (which appeared in all articles of this series) is included. Examples of the possible influence of gene flow, genetic drift and natural selection in determining the frequencies of some genes are given.

4. The four populations studied can be grouped into two main evolutive complexes.

This work has been supported in part by grants from the Rockefeller Foundation and Comissao de Pesquisas of the University of Rio Grande do Sul. The technical assistance of Mr Girley V. Simoes is gratefully acknowledged.
A suggestion as to the place of rG and rM on the Rh system
Authors: BOORMAN KATHLEEN E. , LINCOLN P. J.
Published: September 2007

A possible explanation of the Rh gene complexes rG and rM is given. It is based on the idea that G is a series of antigens corresponding to parts of the D and C loci and M corresponding to parts of the C and E loci.
An aberrant small acrocentric chromosome
Authors: ELLIS J. R. , MARSHALL RUTH , PENROSE L. S.
Published: September 2007

A small acrocentric chromosome with satellites on both the long and short arms was found as an extra chromosome in a mentally retarded female. No chromosome abnormalities were observed in either father, mother or elder sister. The possible origin of the aberrant small acrocentric chromosome is discussed.
Human chromosome uncoiling and dissociation
Authors: BROOKE JOHN H. , JENKINS DONALD P. , LAWSON RUSSELL K. , OSGOOD EDWIN E.
Published: September 2007

The treatment of human chromosomes with solutions of low ionic strength produces changes in their characteristic morphology, in particular a 0.01 M solution of KCl produces uncoiling of the primary coils of the chromosome; and when the metaphase cells are allowed to rupture by air drying without fixation, the uncoiled chromosomes will dissociate into their constituent longitudinal subunits. The action of the monovalent salt KC1 is reduced in the presence of the divalent salts CaCl2 or MgCl2; and if the proper balance between the divalent and monovalent salts is maintained, the uncoiling and dissociation of the chromosomes is entirely prevented.

The multistranded nature of the human chromosome as seen after treatment with the 0.01 M‐KCl can be related to the structure of the chromosome as seen with the electron microscope and to the structure of chromosomes from other species where their study has been somewhat easier.
Direct assessment of the effect of age on P.T.C. sensitivity
Authors: KALMUS H. , TROTTER AND W. R.
Published: September 2007

Individual P.T.C. sensitivity of adult people declines on the average by 0.0468 ± 0.0118 threshold units (log. to the base 2 of concentration) annually; this corresponds to a mean annual increase in threshold concentration of about 3%. The deterioration is probably more rapid in women than in men, but age, thyroid condition and taster status do not affect its rate.
A study of the genetics of galactosaemia
Authors: SCHWARZ V. , WELLS AGNES R. , HOLZEL A. , KOMROWER G. M. , SIMPSON I. M. NAOMI
Published: September 2007

Galactose‐1‐phosphate uridyltransferase has been determined, by a manometric method, in the lysed erythrocytes of galactosaemic children and their families and in normal controls. Parents of galactosaemic children have about 64 % of the enzyme activity found in controls, while homozygous individuals have little or none. There is a slight overlap of enzyme levels in the control and heterozygote groups. This renders a definite placing of borderline cases impossible.

There is some evidence to suggest that the quantitative differences between heterozygotes are not indicative of different genotypes. The possible existence of different genetic variants, whose phenotypical expression is the same, have been discussed.

We would like to record our gratitude to the Board of Governors, United Manchester Hospitals, for a maintenance grant to one of us (A.R. W.) and for defraying costs of reagents and other incidental expenses; to Profs. W. Gaisford and A. C. P. Campbell for their unfailing support; to Prof. Sir Robert Piatt and Prof. H. Harris for reading the manuscript and offering valuable advice; to Dr A. H. Gowenlock for assistance with the statistical evaluation of the results; and to many Paediatricians and Pathologists all over the British Isles for their co‐operation with us in securing specimens from their patients. We would also like to thank Mr E. G. Smith and the Department of Medical Illustration of the Manchester Royal Infirmary for the preparation of the illustrations.
The lack of influence of parental age and birth order in the aetiology of nuclear sex chromatin‐negative Turner's syndrome
Authors: BOYER SAMUEL H. , FERGUSON‐SMITH MALCOLM A. , GRUMBACH MELVIN M.
Published: September 2007

Among seventy patients with nuclear sex chromatin Turner's syndrome sixty‐three individuals were found who had at least one liveborn sib. In these sixty‐three families the observed maternal age (25.413 ± 5.494, S.E. 0.692) did not differ significantly from the expected maternal mean (26.091 ± 5–262); nor did the paternal observed age (27.742 ± 5.651, S.E. 0.718) differ significantly from the expected paternal mean (28.421 ± 5.612). The observed birth ordinal (2.127 ± 1.550, S.E. 0.195) was not significantly different from expected birth ordinal (2.405 ± 1.644). Limitations due to residual fertility of parents are, in this survey, regarded as minimal.

It is a pleasure to acknowledge that the beginnings of this survey lay in conversations between Prof. L. S. Penrose and one of us (S. H. B.). We wish to thank Mrs Barbara Latrobe and Mrs Jane Schultz for their assistance.
Ehlers‐Danlos syndrome and cutis laxa: an account of families in the Oxford area
Authors: SESTAK Z.
Published: September 2007

Eight families of Ehlers‐Danlos syndrome containing sixty‐five cases are described. Of these thirty‐four patients were seen and examined personally. The clinical picture in these individuals is discussed in relationship to the previous literature. Particular attention was paid to cardiovascular findings and electrocardiographic examination. It is suggested that incomplete right bundle branch block is unusually frequent in Ehlers‐Danlos. It is shown that Ehlers‐Danlos syndrome is a dominant trait with variable manifestation.

The two families with cutis laxa are of interest in that although the clinical manifestation is very similar, in one a father and daughter were similarly affected and in the other the unaffected parents of two affected children were descended from a common ancestor who may have manifested the trait. The occurrence of incomplete right bundle branch block is recorded in a child suffering from the cutis laxa syndrome.

I am grateful to Dr A. C. Stevenson of the Population Genetics Research Unit for providing me with guidance, supervision, advice and essential facilities in this work. Miss R. Mason, S.R.N., of the same unit, accompanied me on all my family visiting and sustained me by her interest and enthusiasm. My thanks are due also to Dr H. T. Calvert, Dr J. J. Kempton, Dr Victoria Smallpeice, Dr D. S. Wilkinson and Mr J. Peet who permitted me to see their cases and investigate the families. Dr J. M. Evanson of the Nuffield Department of Clinical Medicine was kind enough to interpret the electrocardiographic findings for me. I must also record my thanks to the World Health Organization for the Fellowship which enabled me to work in Oxford and to Professor Kesic who granted me leave of absence from the ‘Andrija Stampar’ School of Public Health.
Tests for sex‐linked inheritance on population samples
Authors: HALDANE J. B. S.
Published: September 2007

Methods are given for testing the agreement of theory and observation as to the frequency of sex‐linked characters in the two sexes in populations. They are applied to data by Sanger and her colleagues, and by Dronamraju.
Chromosome deletion in a case of retinoblastoma
Authors: LELE KUSUM P. , PENROSE L. S. , STALLARD H. B.
Published: September 2007

In the course of an investigation of karyotypes in patients with retinoblastoma, one was found in whom all cells showed a deletion in the longer arm of one of the large acrocentric chromosomes. Five other patients had normal karyotypes.

The writers wish to thank Dr White Franklin for drawing attention to case no. 1 and arranging for the biopsy, Dr Joy D. A. Delhanty for the fibroblast culture in case no. 1, Dr R. G. Chitham for the culture in case no. 6, Dr Sylvia D. Lawler for suggestions and Miss Dorothy Newlyn for family history investigations.

The work was carried out with the aid of a grant RG‐6984 from the United States Public Health Service.
Intra‐uterine irradiation and iris heterochromia
Authors: CHEESEMAN E. A. , WALBY A. L.
Published: September 2007

The possible association between diagnostic X‐rays in utero and the subsequent development of heterochromic sectors in the iris was investigated. Data were obtained relating to 97 % (7813) of all school entrants aged 4–7 years to Belfast schools during 1961. Of these 67 (0–86 %) were found to have heterochromic sectors of the iris. No significant (at P= 0–05) difference in the proportion affected was found between children reported by their mothers to have been X‐rayed in utero and others. In boys only, the prevalence of heterochromia was slightly, but not significantly, higher in those X‐rayed in utero than in those not X‐rayed.

Eight affected boys were X‐rayed in utero, and in as many as seven the X‐ray occurred in the seventh month. This apparent concentration, which was not observed in girls, is unlikely to be due to chance.

Dr A. C. Stevenson (Population Genetics Research Unit of the Medical Research Council) suggested this study and the Medical Research Council arranged for Dr Marie‐Odile Rethore (Institut de Progenese, Universite de Paris) to visit Belfast to check our diagnostic criteria. It is a pleasure to acknowledge our debt to them and to the doctors and health visitors of the Belfast County Borough Health Department who bore the burden of the field work. Our thanks are also due to the following members of our staffs who helped in a variety of ways, Mrs Dorothy Hutton, Mrs Jean McCabe, Mrs Linda McCreight, and Miss Helen Smyth.
Differential inhibition of ‘usual’ and ‘atypical’ serum cholinesterase by NaCl and NaF
Authors: HARRIS H. , WHITTAKER MARY
Published: September 2007

The inhibition of serum cholinesterase by NaCl and NaF has been studied in twelve plasmas with the ‘usual’ form of the enzyme, and in six plasmas with the ‘atypical’ form of the enzyme. Inhibition of both forms of enzyme required very much higher concentrations of NaCl than of NaF. While the ‘atypical’ enzyme was‐ more readily inhibited than the ‘usual’ enzyme with NaCl, the ‘usual’ enzyme was more readily inhibited than the ‘atypical’ enzyme with NaF. The spectrophotometer used in this investigation was purchased with a grant from the Central Research Fund, University of London.
Haptoglobin types in Brazilian Negroes
Authors: TONDO C. V. , MUNDT CARMEN , SALZANO F. M.
Published: September 2007

1. Haptoglobin types of 381 Negroes and 110 Whites from the city of Pôrto Alegre, Brazil, are reported.

2. The incidence of gene Hp1 increases as the number of genes for darker pigmentation and other negroid features increases in the subsamples. Thus, Hp1= 0·457 in Light Mulattoes, 0·555 in Dark Mulattoes and 0·642 in Negroes.

3. The proportion of non‐Negro ancestry in the negroid population of Pôrto Alegre is estimated as being 54·5% and the average gene flow per generation to be m = 0·064.

4. No differences in haptoglobin frequencies according to age were detected but there is a significant excess of 2­1 and a lack of 2­2 individuals among those undergoing health treatment as compared with healthy persons.

Our thanks are due to the Director of the ‘Instituto de Pesquisas Biológicas’ of the State Department of Health for allowing us to use the Institute's facilities for the collection of blood. Mr Arno R. Schwantes helped in the checking of a series of plasma samples and Mr Girley V. Simoes in the collection and analysis of the data. The work has been supported in part by Rockefeller Foundation grants, by PHS research grant RG­8238 from the Division of General Medical Sciences, Public Health Service, U.S.A. and by research grant T.C. 2668 from the National Research Council of Brazil.
Mongolism and Turner's syndrome in the same sibship
Authors: JOHNSTON A. W. , PETRAKIS J. K.
Published: September 2007

A family was discovered during a survey of the sibs of patients with Down's syndrome using the buccal smear technique which contained two normal boys and a chromatin‐negative girl. This child showed the clinical features of Turner's syndrome and chromosome analysis revealed forty‐five chromosomes with an XO sex chromosome constitution. The boy with Down's syndrome was found to have forty‐seven chromosomes with a triplo­21 pattern. The significance of two aneuploid patients in the same family is discussed, particularly in the light of comparable families in the literature. It is concluded that in certain families there is an inherited predisposition to non­disjunction, probably due to an abnormal gene.

This family study formed part of a thesis by A. W. Johnston for the degree of Doctor of Medicine in the University of Cambridge.

Dr F. H. Allen of Boston carried out the blood grouping, Dr J. W. Shaffer the psychological testing, Prof. L. S. Penrose and Dr Sarah B. Holt the dermatoglyphics. Drs V. A. McKusick and M. A. Ferguson­Smith encouraged and advised, while Mrs Y. Hajda ably assisted on the technical side.
Data for X‐mapping calculations, Israeli families tested for Xg, g‐6‐pd and for colour vision
Authors: ADAM A. , SHEBA C. , SANGER RUTH , RACE R. R. , TIPPETT PATRICIA , HAMPER JEAN , GAVIN JUNE , FINNEY D. J.
Published: September 2007

The results are recorded of tests for the X‐linked red cell antigen Xga on families with glucose‐6‐phosphate dehydrogenase deficient members. The families live in Israel and belong to Kurdish, Iraqi, Yemenite, Sefardic and Ashkenazy Communities.

Linkage between Xg and g‐6‐pd is established at the 1 in 100 level of probability, and an estimate of the recombination frequency is 0–273 + 0–072.

Some of the families also have colour vision abnormalities but the information is not enough to allow an estimate of the recombination fraction between Xg and c.v. to be made. However, the results strongly suggest that the locus for c.v. is further away from Xg than is g‐6‐pd: consequently the probable order on the X chromosome of these three loci is Xg … g‐6‐pd … c.v.

We wish to express our gratitude to all the doctors who collaborated with us by providing some of their material. Special thanks are due to Mrs Judith Offer (Hakfar Hayarok), Dr Rina Schmidt and Dr G. Kende (Government Hospital, Tel‐Hashomer, Israel) for their great part in collecting the samples of blood; and to Prof. E. Auerbach and Dr Edith Nelken, of the Vision Research Laboratory, Hadassah Medical School, Jerusalem, who made detailed colour vision tests in one of our families.

We are greatly indebted to Dr J. D. Mann of the Butterworth Hospital, Grand Rapids, and to Dr Amos Cahan of Knickerbocker Biologicals, New York, for generous supplies of the most precious anti‐Xga plasma. The work has been supported in part by Grant A‐2740‐Hema. from the U.S. Public Health Service, and R/00014 from the World Health Organization.
Sex‐linked deaf‐mutism
Authors: RICHARDS B. W.
Published: September 2007

A family is described containing six deaf‐mute males in four different sibships, showing maternal transmission. Although sex‐limitation cannot be excluded, it is suggested that the disease is due to a sex‐linked recessive gene.
Haemoglobin types in Greek populations
Authors: BARNICOT N. A. , ALLISON A. C. , BLUMBERG B. S. , DELIYANNIS G. , KRIMBAS C. , BALLAS A.
Published: September 2007

The incidence of abnormal haemoglobin genes has been investigated in various populations living in the Greek mainland, Crete and Rhodes.

A previous report of high sickling frequencies in the Chalkidhiki peninsula was confirmed, and the incidence of thalassaemia was found to be low in this region. Relatively low sickling frequencies were recorded in Atalanti in Central Greece and Karditsa in Thessaly, and no sickling was present in samples from Crete and Rhodes.

High β‐thalassaemia frequencies (above 20%) were found in villages in the island of Rhodes, and moderate frequencies (4–7‐9‐8%) in Crete and the Greek mainland towns sampled.

The low incidence of haemoglobin H inclusion bodies observed confirms previous findings that detectable α‐thalassaemia is much less common than β‐thalassaemia in Greece.

In regions where the sickle‐cell gene frequency is high the frequency of thalassaemia is low, and vice versa.

High frequencies of abnormal haemoglobins are found only in regions that were formerly intensely malarious.

We are indebted to many Greek physicians for friendly co‐operation and helpful discussion, in particular Dr Limberis, Prof. K. B. Choremis and Dr Ph. Fessas, Athens, and Dr G. Kypriotis, Rhodes. Dr A. U. Smith and Mrs N. A. Barnicot gave valuable help with the haematological investigations. We are also indebted to Prof. L. S. Penrose, Dr E. R. Huehns, Mrs Maynard Smith and Mr Norman Dance for their help.

The work was supported by the Section on Geographic Medicine and Genetics, National Institute of Arthritis and Metabolic Diseases, Bethesda, Maryland.
Familial spastic paraplegia with amyotrophy of the hands
Authors: SILVER J. R.
Published: September 2007

Two unrelated British families suffering from a distinctive form of familial spmtic paraplegia associated with wasting of the hands are described.

I wish to record my gratitude for the encouragement and advice that I received from Dr Michael Kremer, under whose care the patients were admitted and investigated.

I would like to thank Prof. Lionel Penrose, who throughout the investigation helped and advised me on the genetic aspects of the work.

I wish also to thank Mr Ainslie and Mr Goldsmith for referring the propositus Mr A.; Mr Northfield and Lord Brain for allowing me to quote from their original notes on Mrs R. when she attended the London Hospital; Miss Ruth Marshall for carrying out the blood‐group studies; Dr Julia Bell and Dr A. Carmichael for discussing these families with me; Mr Frank Beck for translating the German papers quoted, and Dr Russell Doggart for his advice and criticism.