bluuebunny/crossref_metadata_2025_split huggingface dataset:
AN AETIOLOGICAL STUDY OF CONGENITAL HEART DISEASE
Authors: POLANI P. E. , CAMPBELL MAURICE 
Published: September 2007

SummaryA statistical study was carried out on 377 families containing children with congenital heart disease, seen and diagnosed in the Cardiac Department of Guy's Hospital. The patients were divided into three main clinical groups: (1) those with Fallot's tetralogy; (2), (3) and (4) those with other forms of cyanotic heart disease; and (5) and (6) those with acyanotic heart disease. Five cases of mongolism and two following maternal rubella were excluded.The following conclusions were reached:I. There was an excess of affected children with Fallot's tetralogy born between maternal ages 40 and 44 years; otherwise no effect of maternal age was evident. Paternal age and birth rank had no effect.II. Although the seasonal incidence of congenital heart disease was the same as in the general population, there was a significant difference of seasonal incidence between males and females.III. There was a significant excess of males among the cases of Fallot's tetralogy, coarctation of the aorta, transposition of the great vessels, and, especially, congenital aortic stenosis. The aorta of the male appears to be more vulnerable to congenital and acquired defects than that of the female.IV. The incidence of congenital heart disease among the sibs born after the propositus was about twenty times the incidence in the general population (2 per 100 as against 1 per 1000 at the age of 10 years).V. No association was observed between twinning and congenital heart disease.VI. There was no excess of stillbirths, miscarriages or abortions, nor was there any concentration of disturbed pregnancies.VII. Search was made for a period of relative sterility preceding or following the birth of the affected child but convincing evidence of this was not found.VIII. There were twelve examples of associated malformations in the 377 propositi, cleft palate figuring three times, congenital club foot, mental defect and hemivertebra twice each. The incidence of malformations, other than congenital heart disease, in the sibs of the propositi was 2 %.IX. The incidence of congenital heart disease in relatives other than sibs was investigated.X. The incidence of first‐cousin marriages among parents was 0.8%, a figure not significantly different from what could be expected in a hospital population (0.4%) yet identical with the percentage to be expected on the hypothesis that congenital heart disease results from simple autosomal recessive inheritance.XI. Maternal infections are of importance only in rare cases.XII. There was no evidence of limitation of family size.
TASTE THRESHOLDS FOR PHENYLTHIOCARBAMIDE OF SOME POPULATION GROUPS
Authors: LUGG J. W. H. , WHYTE J. M. 
Published: September 2007

Summary1. A technique of estimating thresholds of taste for phenylthiocarbamide intended for use subsequently with small groups of primitively living subjects, has been employed in the first instance in a study of four samples, each of fifty subjects drawn from a civilized ethnic group living in Malaya, the groups being Chinese, European, Indian (Tamil) and Malay.2. The threshold values (recorded as T.S.N. values, viz. as values of n in the expression, 2–60 × 2‐n g./I., for the threshold concentrations of the substance) have been corrected for age and sex effects to the 32‐year‐old male as standard subject, on the basis of certain assumptions. The corrected data have been found to yield frequency distributions preferable to those yielded by data not so corrected.3. The so‐called ‘non‐taster’: ‘taster’ ratios found in the four samples previously mentioned were 0–02:0‐98, 0–196:0‐804, 0–272:0‐728 and 0–156:0‐844 respectively. As estimates of the ratios in the corresponding ethnic groups, these values have large standard deviations because of the small sample sizes. Even so, the differences between the ratios of the Chinese on the one hand and of each of the other groups on the other, are of appreciable statistical significance. Differences of appreciable statistical significance have been found between the mean T.S.N. values of some of the ‘taster’ fractions (range of means, 9–57‐10‐85) and also between the variances of the T.S.N. values of some of the ‘taster’ fractions (range of variances, 2–512‐6‐937). The findings of the study have been compared with those of some other investigators who have worked with various ethnic groups.
NON‐RANDOMNESS IN CONSANGUINEOUS MARRIAGE*
Authors: MORTON By NEWTON E. 
Published: September 2007

SummaryFor Japanese, English, Brazilian and Austrian populations, estimates of genetic isolate size based on different types of consanguineous marriage range over more than one order of magnitude, being much greater for uncle‐niece and aunt‐nephew marriage than for first‐cousin marriage, with second cousins giving estimates about 10 times greater than first cousins. These discrepancies agree with the probable non‐randomness of consanguineous marriage, and are so great that little reliance can be placed on estimates of isolate size from consanguineous marriage.It is known that for rare partially sex‐linked recessive traits the ratio of affected females to affected males depends on the proportions of four types of first cousin matings. Data from Austrian and Japanese populations reveal three significant kinds of non‐randomness which, however, would have very little effect on the expected frequency of females among partially sex‐linked recessives, if such genes exist in man.For the populations sampled, non‐randomness is shown to persist in the different mating types of first cousins once removed, second cousins once removed, and second cousins.
A NOTE ON THE OCCURRENCE OF SINGLE‐SEX SIBSHIPS
Authors: HEWITT By D. , WEBB J. W. , Stewart A. M. 
Published: September 2007

SummaryA large sample of families drawn from the general population was found to contain an unexpectedly large number of all‐male sibships. This did not seem to be compatible with the hypothesis that sex is always determined by chance, but was in accord with the finding of an earlier study (Ounstead, 1953) based on selected families containing children with convulsive disorders.
SIB RESEMBLANCE IN BONE, MUSCLE AND FAT MEASUREMENTS OF THE HUMAN CALF
Authors: HEWITT DAVID 
Published: September 2007

SummarySeparate measurements of bone, muscle and fat at ages up to 5 have been made from calf X‐rays of 120 pairs of sibs attending the Oxford Child Health Survey. The degree of sib resemblance in these measurements and in external calf circumference is found to be high, particularly when allowance is made for unavoidable errors of measurement.Sib resemblance in respect of muscle breadth increases with age, while for fat thickness it appears to decrease. In the case of muscle there is some evidence that fluctuations in growth as well as the average rate of growth are genetically controlled.There is no evidence of sex‐linkage. Correlation between different tissues in the same child is negligible.Assessments of skeletal maturity show a moderate correlation with bone diameter, but little association with muscle and none with fat. The amount of measurable sib resemblance is greater when these tissues are examined separately than when they are considered in relation to one another.The Oxford Child Health Survey was launched by the late Prof. John Ryle with assistance from the Medical Research Council; in recent years it has been directed by Dr A. M. Stewart. I am greatly indebted to Dr C. K. Westropp and Dr J. Parfit who were responsible for the clinical work of the survey, to Miss E. Roberts and Miss M. Barnes who took all the X‐rays, to Drs R. M. Acheson, L. Mynors and E. Jefferson who made the assessments of skeletal maturity and to Dr J. M. Tanner for criticisms of the draft.
TESTING ASSOCIATION OF METRIC TRAITS AND MARKER GENES
Authors: LOWRY DOROTHY C. , SHULTZ FRED T. 
Published: September 2007

SummaryA method of testing for association between particular marker genes and genes with polygenic effects on a metric trait is described. Limited tests on a blood group locus and certain metric traits of chickens failed to show any association. The problem and this approach to it are deemed not without interest.
NON‐RANDOM MATING, AND ITS EFFECT ON THE RATE OF APPROACH TO HOMOZYGOSITY
Authors: WATTERSON G. A. 
Published: September 2007

SummaryIn this paper, various systems of non‐random mating are considered for both monoecious and dioecious diploid populations. The effect of positive assortative mating on the rate of approach to homozygosity is investigated, at a single chromosome locus in the absence of mutation. The difficulty of setting up an amenable theoretical model for negative assortative mating is discussed. It is found that for a monoecious population, positive assortative mating increases the rate by a factor between 1 and 2 compared with random mating. For a dioecious population, assortative mating may either increase or decrease the rate of approach to homozygosity, depending on the mating system and the divergence of the sex numbers from equality. A population whose birth‐death events occur in succession (a model introduced by Moran), is known to approach homozygosity at twice the rate of a population with non‐overlapping generations, and this result is shown to hold under positive assortative mating. The probability of fixation of an allele is obtained, and depends on the initial gene frequencies.
RE‐EXAMINATION OF A FAMILY WITH PICK'S DISEASE
Authors: SCHENK V. W. D. 
Published: September 2007

SummaryA family, which was originally investigated in 1938 when it contained ten cases (four males and six females) of Pick's lobar atrophy, has been followed up and ten more cases (two males and eight females) have developed in the interval. The newly affected people and those members of the family who have remained normal are described. The outcome is compared with prognoses made in 1938.
CYSTATHIONINURIA
Authors: HARRIS H. , PENROSE L. S. , THOMAS D. H. H. 
Published: September 2007

SummaryDuring a survey by paper chromatography of amino acids in urine from patients in a mental deficiency hospital, one patient was found who was excreting an unusual ninhydrin reacting substance in large amounts. The substance was identified chromatographically as cystathionine, an amino acid which has not been previously found in human urine. The evidence suggests that the abnormal excretion of cystathionine was due to an inborn error of metabolism represented by a metabolic block at the point where cystathionine is normally cleaved to give cysteine and homoserine.
The familial incidence of twinning
Authors: BULMER M. G. 
Published: September 2007

Summary1. Mothers, but not fathers, of twins are more often themselves twins than expected.2. There appears to be an increased twinning rate among the children of the brothers and sisters of the fathers of twins, and of the sisters of mothers of twins but not among the children of the brothers of mothers of twins. Internal evidence suggests that the increase among the children of the father's sibs is spurious, and is due to under‐reporting of single births on the father's side of the family.
Somatic chromosome complement in continuously cultured cells of two individuals with gonadal dysgenesis*
Authors: FRACCARO M. , KAIJSERJ K. , LINDSTEN J. 
Published: September 2007

Summary1. Previous evidence in favour of the concept that certain patients with gonadal dysgenesis have a sex‐chromosome constitution of the type XO and that this originates through nondisjunction during gameto‐genesis of the parents is discussed.2. The methods for in vitro cultivation of cells derived from sternal marrow and skin of adult individuals and the screening, staining and chromosome‐counting procedures are described in detail.3. Some aspects of the natural history of these cultures are discussed.4. The clinical findings in two girls affected with gonadal dysgenesis of the Turner's type are briefly reported.5. Marrow and skin cells derived from these patients have been continuously cultivated in vitra and their chromosome numbers and complements determined. In both cases the cells displayed a modal number of forty‐five chromosomes. Analysis of the karyotype of these cells and comparison with the normal female cell karyotype showed that an X chromosome is probably missing. After several transfers in vitro the chromosome number and the karyotype were unchanged.6. The theoretical and practical implications of these findings are discussed. In man the Y chromosome is a bearer of male‐determining factors. Patients with this type of gonadal dysgenesis are to be considered females with an unusual genotype.
The occurrence of two unusual serum protein phenotypes in a single pedigree
Authors: Harris H. , Lawler S. D. , Robson E. B. , SMITHIES O. 
Published: September 2007

SummaryA family is described in which two rare serum protein phenotypes are segregating. Some individuals possess, in addition to the usual transferrin (β‐globulin C), an unusual transferrin B2, which has a higher mobility in starch gel electrophoresis. Such individuals of type TfB2C are distributed in the manner to be expected if they were heterozygous for a common gene determining transferrin C and a rare gene determining transferrin B2. A modified 2‐1 haptoglobin phenotype also occurs in two generations of this family. Some possible mechanisms of its inheritance are discussed.
A note on the frequency of ABO heterospecific pregnancy
Authors: KNOX GEORGE 
Published: September 2007

SummaryAn algebraic statement is derived expressing the frequency of ABO heterospecific pregnancy in a population for which the gene frequencies are known. Results derived by substitution are compared with published observations. Consistent differences are found, but it is suggested that they may largely result from assortative mating rather than immunological risks to heterospecific foetuses.
Taste sensitivity to P.T.C. in samples from three Brazilian populations*
Authors: FREIRE‐MAIA ADEMAR , QUELCE‐SALGADO ANTONIO 
Published: September 2007

Summary1. The frequencies of non‐tasters to p.t.c. were determined in samples from three Brazilian populations: Salvador, Ba (38%), Curitiba, Pr (26%), and Presidente Prudente, SP (8%). The frequency of non‐tasters in the white Brazilian general population is calculated to be about 30 %, giving the frequency of the non‐taster gene equal to 0.55.2. Using the Harris & Kalmus method, the existence of variations within single individuals in taste sensitivity to p.t.c. was shown, thus confirming previous information obtained with a different and less precise method.3. The frequencies of non‐tasters among smokers and non‐smokers were found to be statistically not significantly different.4. The frequencies of non‐tasters obtained by other authors in adults from a tuberculosis sanatorium in Curitiba are statistically lower than those we obtained in normal individuals from the same city. This finding could be interpreted in favour of the hypothesis that the non‐taster genotype shows a higher susceptibility to tuberculosis.
Simplified method of estimating the MNS gene frequencies
Authors: DeGROOT MORRIS H. , LI C. C. 
Published: September 2007

SummaryA simple method of estimating the MNS gene frequencies from six phenotypes has been presented. The arithmetic procedure of estimation has been illustrated by a numerical example (Table 2) and the variance formulas for numerical calculation are given in sT 10. This method is of high efficiency.
A family with Kartagener's syndrome: linkage data
Authors: KNOX GEORGE , MURRAY SHEILAGH , STRANG LEONARD 
Published: September 2007

SummaryA family is presented in which three sibs were regarded as affected by differing degrees of Kartagener's syndrome. Linkage data are given which, while inconclusive alone, suggest the possibility of linkage with Rh and may serve as a useful starting point for sequential additions.
A possible case of mongolism in a Saxon population
Authors: BROTHWELL D. R. 
Published: September 2007

SummaryBriefly, then, the anatomical features which together strongly suggest mongolism in the Saxon child are:(1) Microcephaly, as shown particularly by vault length, breadth, and cranial capacity.(2) Hyperbrachycephaly, the index being abnormally high for an Anglo‐Saxon (whether child or adult).(3) Small sphenoid body and high angle of the basi‐occipital.(4) Thinness of the cranial bones.(5) Small maxilla but fairly normal mandible size.(6) Minor anomalies of the dentition.
Data on linkage in man: ovalocytosis, sickling and the Rhesus blood group complex
Authors: CLARKE C. A. , DONOHOE W. T. A. , FINN R. , McCONNELL R. B. , SHEPPARD P. M. , NICOL D. S. H. 
Published: September 2007

Summary1. Two families are reported in which linkage between the gene controlling ovalocytosis and that of the Rhesus blood group complex is present. In those individuals where cross‐overs could have been detected none was in fact found in either family.2. In the first pedigree the propositus was a West African negro of genotype cDe/cde (RQr) and as far as we know this is the first time that the linkage with ovalocytosis has been shown to occur with the cDe Rhesus combination.3. In family I some of the relatives of the propositus were found to be sicklers and the data suggest the possibility that the locus controlling the trait is linked with that of blood group P. However, the findings could easily be due to chance and further pedigrees need to be investigated.
A further genetically determined transferrin variant in man
Authors: HARRIS H. , PENINGTON D. G. , ROBSON E. B. , SCRIVER C. R. 
Published: September 2007

SummaryTwo families are described in which a new transferrin variant D4 is segregating. It has a mobility in starch gel electrophoresis at pH 8‐6 lower than that of transferrin C and higher than that of transferrin Dv The fact that it is different from D0 could be demonstrated using borate buffer, but not with the Tris/borate system. The familial distribution of the phenotype Tf CD4 suggests that individuals of this phenotype are heterozygous for genes, one of which is necessary for the formation of transferrin C and the other for transferrin D4. There is no suggestion that transferrin D4 is associated with any clinical abnormality, or with any other variation in serum protein formation. The frequency of the Tf CD4 phenotype is approximately 1 in 625.
Data on linkage in man. The nail‐patella syndrome, family S
Authors: CLARKE C. A. , McCONNELL R. B. , SHEPPARD P. M. 
Published: September 2007

SummaryA further small family in which there is linkage between the ABO blood group and nail‐patella loci is reported, the gene controlling the skeletal condition being linked in coupling with that determining the A1 blood group. One cross‐over is reported among the eight individuals who might have inherited the condition.We are grateful to Dr E. T. Baker‐Bates for introducing his patient, the propositus, to us.
An investigation of the carrier state in the Duchenne type muscular dystrophy*
Authors: LEYBURN PETER , THOMSON W. H. S. , WALTON JOHN N. 
Published: September 2007

SummaryIn an attempt to discover a laboratory test by means of which female carriers of the gene For the Duchenne type muscular dystrophy could be identified, creatine and creatinine excretion has been studied in forty‐eight female relatives of patients suffering from this variety of muscular iystrophy. The activity in the serum of aldolase, of serum glutamic oxalacetic transaminase (SGOT) and of serum glutamic pyruvic transaminase (SGPT) has also been determined in thirty‐six female relatives. The females tested were divided into three groups: (a) known carriers, (b) possible carriers, and (c) probable non‐carriers. No significant differences were discovered between the results obtained in each of these three groups. No method of identifying female carriers has yet been discovered.We are grateful to Dr A. L. Latner for his advice and for providing facilities in the Department of Chemical Pathology of the Royal Victoria Infirmary for biochemical estimations to be carried out in the Newcastle upon Tyne series. Creatine and creatinine estimations on the female relatives of patients living in the London area were carried out in the Department of Chemical Pathology, the Institute of Neurology, the National Hospital, Queen Square, by kind permission of Prof. J. N. Cumings. The pedigree was prepared by Miss M. Mustart of the Department of Photography, King's College, Newcastle upon Tyne, and statistical analyses were performed by Mrs D. Weightman of the Department of Industrial Health, King's College.
The birthplaces of parents and grandparents of a series of patients with phenylketonuria in south‐east England
Authors: CARTER C. O. , WOOLF L. I. 
Published: September 2007

SummaryA comparison has been made of the birthplaces of the parents and grandparents of a series of patients with phenylketonuria with those of the parents and grandparents of three control series of patients with Hirschsprung's disease, congenital dislocation of the hip and coeliac disease. The index patients in each series have been restricted to those referred to The Hospital for Sick Children from homes in south‐east Englànd.It was found that a high proportion of the parents and grandparents of the phenylketonuric patients were born in Ireland or west Scotland. The frequencies, relative to the control patients, of phenylketonurias with grandparents born in Ireland or west Scotland, suggest that the frequency of the gene for phenylketonuria is about four times as high in the population of these parts of the British Isles as in the population of south‐east England.It is also noteworthy that several phenylketonuria patients had Lithuanian or Polish ancestry, and one patient was of gypsy descent on both sides of the family.We wish to thank Prof. A. A. Moncrieff, Dr J. A. Fraser Roberts and Dr A. C. Stevenson for their encouragement during the investigation and their criticism of this paper, also Dr M. Fraccaro and Dr J. Stern for their help with the references, and Prof. H. Utena for his information about Japan. One of us is indebted to the Research Committee of The Hospital for Sick Children for financial support in the early part of this investigation.
A pedigree of extra‐digit‐V Polydactyly in a Batutsi family
Authors: WALKER J. T. 
Published: September 2007

SummaryA new pedigree of post‐axial Polydactyly concerned with four generations in a family of the Batutsi tribe is presented. Only one of the family members examined was affected; his hands showed typical extra‐digit‐V hexadactyly but his feet had different abnormalities. No documentary evidence existed and the pedigree was constructed from verbal information. Irregular dominance of the trait is shown, and it is deduced that the mode of inheritance can be explained by postulating two dominant genes, one of which controls the penetrance of the Polydactyly gene.Mr R. G. Passmore brought Bakundukize to the writer's notice and Mr H. L. Manning and Drs A. G. M. Davies and J. E. Dale criticized the manuscript. Mr T. Eddie kindly provided the X‐ray negatives.
Seasonal incidence of congenital disease in Birmingham
Authors: EDWARDS J. H. 
Published: September 2007

SummaryData are advanced showing that considerable seasonal variations in the incidence of some common congenital malformations can be demonstrated. It is suggested that this is probably a feature common to many congenital malformations, although its demonstration will usually require extensive data.* The author is grateful to Dr G. R. Fraser for allowing him to examine his very extensive data on cleft palate, cleft palate and hare‐lip, and hare‐lip. These show no suggestion of any appreciable seasonal variation.