bluuebunny/crossref_metadata_2025_split huggingface dataset:
AN ANALYSIS OF GEISSLER'S DATA ON THE HUMAN SEX RATIO
Authors: EDWARDS A. W. F. 
Published: September 2007

SummarySkellam'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

Summary1. 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

Summarynew 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

SummaryHaptoglobin 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

SummaryPublished 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

SummaryAn 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

SummaryThe 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

SummarySerially 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

SummaryIn 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

SummaryA 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

SummaryAdditional 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.
Rare genetic conditions among the Gaingang Indians
Authors: SALZANO FRANCISCO M. 
Published: September 2007

Summary1. 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

SummaryA 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

SummaryA 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

SummaryThe 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

SummaryIndividual 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

SummaryGalactose‐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

SummaryAmong 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

SummaryEight 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.
Chromosome deletion in a case of retinoblastoma
Authors: LELE KUSUM P. , PENROSE L. S. , STALLARD H. B. 
Published: September 2007

SUMMARYIn 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

SUMMARYThe 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

SUMMARYThe 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

Summary1. 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.