bluuebunny/crossref_metadata_2025_split huggingface dataset:
MUSCULAR DYSTROPHY IN NORTHERN IRELAND
Authors: STEVENSON A. C. , CHEESEMAN E. A. , HUTH MARY CLARE 
Published: September 2007

SummarySib pairs from twenty‐six Northern Ireland families with at least one member affected by ‘autosomal limb‐girdle muscular dystrophy’ have been examined for linkage between the dystrophy and sex, colour vision, taste sensitivity to phenylthiocarbamide, ABO, Rhesus, Lewis (a), P, MNS and salivary secretion of AB antigens.The data present no definite signs of linkage; the only significant score obtained by Penrose's sib‐pair method was for Lewis (a) in 128 sib pairs from families in which affected members had no face involvement. In view of the small amount of information available in this isolated instance and the relatively large number of tests made, the evidence for linkage with Lewis (a) in this group of families is unconvincing.
FILTER‐PAPER ELECTROPHORESIS OF MOUSE HAEMOGLOBIN: PRELIMINARY NOTE
Authors: RANNEY HELEN M. , GLUECKSOHN‐WAELSCH SALOME 
Published: September 2007

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

SummaryFrequency distributions of total ridge‐count are given for a population sample of 825 males and 825 females.The mean ridge‐count for males is 144·98 (σ= 51·079), for females 127·23 (σ= 52·507). The difference between these means is highly significant by the t test.The distributions are non‐Gaussian. The skewness (g1) and kurtosis (g2) of each has been calculated. Both distributions are negatively skew and flattened, although the value of g2 in the males only reaches 1·7 times its standard error. The other values are highly significant.
A BLOOD GROUP SURVEY OF THE COUNTY AND CITY OF DUBLIN
Authors: DAWSON G. W. P. , HACKETT W. E. R. 
Published: September 2007

Summary

The records of 9867 blood donors who were born in and are still resident in the county of Dublin were sorted into 223 groups according to the areas in which they live.
These groups were progressively summed until six groups, representing donors from the centre of the city, suburbs and rural areas, north and south of the river Liffey, were obtained.
At the summations within each of these six divisions, the areas showed no significant heterogeneity in the proportion of A+AB donors. The proportion of these donors was not the same in each of the six areas; it was highest in the rural areas, lowest in the city centre and intermediate in the suburbs.
No significant heterogeneity either within the six divisions or between these divisions appeared in the proportion of B+AB donors.
The proportion of Rh– donors showed some heterogeneity within the six divisions; a patchiness rather than a pattern. The proportion of these donors appears to be lowest in the rural areas, highest in the city centre and intermediate in the suburbs.
Possible interpretations of the data are discussed, including differential selection in rural and urban areas. The simplest interpretation is that prior to the arrival of the Anglo‐Norman settlers the population of County Dublin had a relatively low proportion of people of group A and a relatively high proportion of people who were Rh‐. The descendants of these people are the main component of the population in the centre of the city. In the rural areas there is a significant proportion of descendants of Anglo‐Norman and later settlers, who had a relatively high proportion of group A and a relatively low proportion of Rh‐.
In accord with this explanation it is noted that even within each of the six areas there is a tendency for the proportion of Rh‐ to be lower among those of group A than among those of groups B and O.
VERZÖGERTE MUTATION BEIM MENSCHEN? EINIGE KRITISCHE BEMERKUNGEN ZU CH. AUERBACHS ARBEIT (1956)
Authors: VOGEL F. 
Published: September 2007

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

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

SummaryThe literature on the Lambert family showing ichthyosis hystrix has been fully discussed. Fresh evidence is presented, derived from parish registers, which concerns the pedigree. In consequence of these enquiries it is possible to draft a new pedigree which can be most easily interpreted as representing the effect of an autosomal dominant gene.A very large number of people have co‐operated in the investigations described in the present paper and the writers would like to express their warmest thanks to all of them. Significant contributions to the collection of relevant material were made by many Suffolk clergymen. Among others who gave invaluable assistance were Drs P. J. Hare, J. B. Lyon, Margaret Penrose, Keith Simpson, Messrs D. Charman, S. G. Flick, H. R. Hipwell, W. R. Le Fanu, M. P. Statham and Miss Helen Lang‐Brown. We are grateful to the librarians of the University of California, Mrs Evelyn E. LeBarron and Mrs Margaret D. W. Uridge, for their interest and help in locating rare bibliographical items.
MARFAN'S SYNDROME IN NORTHERN IRELAND: AN ACCOUNT OF THIRTEEN FAMILIES
Authors: LYNAS MARGARET A. 
Published: September 2007

SummaryAll the subjects in Northern Ireland who have been ascertained to suffer from Marian's syndrome or any incomplete form of this syndrome have been studied. A total of thirty‐one subjects in several generations have been ascertained and twenty‐six of these were living at the time of the survey. Twenty only are resident in Northern Ireland. Strict criteria of acceptance of the disorder have been postulated and it is probable therefore that mild (sporadic cases would be excluded even had they been notified.The literature on the clinical and hereditary aspects of Marfan's syndrome and the aetiology have been disoussed.
THE BLOOD GROUP FREQUENCIES IN SOME OCCUPATIONAL GROUPS IN COUNTY DUBLIN
Authors: DAWSON G. W. P. 
Published: September 2007

Summary1. The frequencies of the ABO blood groups among 9867 donors, born in, and resident in, the county of Dublin have been analysed according to the occupational groups of the donors.2. The occupational groups used were professional, clerical, skilled manual, and unskilled manual. For women no distinction was made between skilled and unskilled manual workers.3. With two exceptions no differences in the ABO blood group frequencies between these occupational groups were found which were significant.4. A similar analysis of the frequencies of Bh ‐ donors in the different occupational groups was carried out. No significant differences were found.5. The occupational groups are homogeneous in showing a higher frequency of Bh ‐ among O and B donors than among A and AB donors.6. The possibility that the association between Rh and A is due to the existence of two components in the population that do not intermarry is discussed. It is concluded that unreasonably large differences in blood group frequencies between the postulated components would be required to explain the observed degree of association.
GENETICS OF DERMAL RIDGES: THE RELATION BETWEEN TOTAL RIDGE‐COUNT AND THE VARIABILITY OF COUNTS FROM FINGER TO FINGER
Authors: HOLT SARAH B. 
Published: September 2007

SummaryPart 1Frequency distributions for the finger ridge‐count on each of the ten digits in a population sample of 825 males and 825 females are given, together with their respective means and standard deviations.The highest means are those for digit I, followed in order by those for digits IV, V, III and II.The mean ridge‐count is significantly greater on each digit in males, the difference being greatest on digit I of both hands.The mean ridge‐count on the right hand is significantly greater than that on the left on digit I in both sexes and on digit II in females.Digit II shows the greatest variability in ridge‐count and digit V the least. Part 2A value S2, the sum of squares of deviations of the ten separate finger ridge‐counts from their mean, has been used as a measure of the variability between the digits of an individual.The joint distribution of this variable with the total finger ridge‐count, Q, is given for 825 males and 825 females, respectively.In both sexes the distribution is arch‐shaped, with entries decreasing from the base to the apex, while the regression of S2 on Q is a curved line. In each case there are signs of trimodality.The joint distribution of (S/√ 10) and Q is also given for each sex.The correlation between S2 and Q is negative in both sexes: r=–0–195 ± 0–03 for males and r=—0–12 + 0–03 for females. These values are significant.The characteristic features of the joint distribution of S2 and Q are discussed with a view to their possible genetic significance.The data used for this paper are filed in the archives at the Galton Laboratory.
THE RATE OF APPROACH TO HOMOZYGOSITY
Authors: MORAN P. A. P. 
Published: September 2007

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

SummaryIn a study of eighty‐three families of patients with primary muscular dystrophy the index cases are either children or patients in whom muscular weakness was first apparent in childhood. 106 patients examined by the authors are differentiated clinically into: Childhood type (ninety‐six patients examined) represented in seventy‐eight families.Two subgroups are distinguished:(1) Severe group with fifty‐six families in which all the affected members are boys. The group is genetically homogeneous, a sex‐linked recessive or, less probably a sex‐limited dominant gene being responsible.(2) Mild group with twenty‐two families; both sexes are represented amongst those affected. The group is genetically heterogeneous; sex‐linked recessive, autosomal recessive and dominant inheritance are probably all involved.Reasons are given to support the view that at least two sex‐linked or sex‐limited genes are concerned in the transmission of the childhood type of dystrophy. Adult types (ten patients examined) represented in five families.Inheritance is probably dominant in three families and possibly autosomal recessive in two.An Appendix containing summarized case histories is placed in the archives of the Galton Laboratory.The authors wish to thank Prof. W. S. Craig and Dr C. O. Carter for their generous advice and encouragement, and the University of Leeds for contributing towards the expense involved in travelling to the homes of patients. In addition one of us (H.B.) was in receipt of a grant from the Eugenics Society 1953–55.A special debt of gratitude is owed to Paediatricians in the Leeds Region who without exception, gave the authors every facility for studying patients under their care. It is a pleasure to acknowledge equally generous assistance from Dr Hugh Garland who allowed the authors to consult his hospital records.We are obliged to the Leeds City Coroner for permission to consult reports of two autopsy examinations.The majority of patients were traced with the unfailing co‐operation of the Medical Officers of the local authorities concerned, many of whom consulted with the authors and made available their school records. Permission to visit patients was invariably requested from the family doctor concerned and was in no case denied and the authors express their appreciation for the tolerance and kindness with which their efforts were rewarded by the parents and relations of children examined.Finally, the authors wish to thank Prof. Penrose for his advice and Miss M. N. Karn for her interest and help in the preparation of this paper.
TASTE SENSITIVITY TO PHENYL‐THIOUREA IN TUBERCULOSIS AND DIABETES MELLITUS
Authors: AKESSON HANS OLOF 
Published: September 2007

SummaryThe frequency of taste deficiency in a material consisting of 128 tuberculous patients, 106 diabetics and 122 healthy people has been studied by a sorting procedure. All the tested persons were born in Southern Sweden (Gotaland).No significant difference was found between tuberculous patients and the healthy control group in the proportion of non‐tasters or between the diabetics and the healthy control group.
THE INHERITANCE OF COELIAC DISEASE
Authors: CARTER CEDRIC , SHELDON WILFRID , WALKER COLIN 
Published: September 2007

SummaryCoeliac disease probably has a common aetiology in the patients who show a striking response to treatment on a gluten‐free diet. A genetic study is reported of eighty‐eight such patients attending the coeliac clinic at The Hospital for Sick Children between 1952 and 1958.No effect of maternal age, birth order or social class was found on the incidence of the disease. But a definite increase in the incidence was found in the near relations of patients. The risk in the general population is estimated to be about 1 in 3000. In contrast, 5 of 205 brothers and sisters, 2 of 85 fathers, 1 of 580 aunts and uncles, and 1 of 806 cousins had had proved coeliac disease or idiopathic steatorrhea. A few more relatives were probably affected. No increase in other gastro‐intestinal disorders, in allergic disorders, or in diabetes mellitus was found in the relatives.It is suggested that the family concentration is unlikely to be due simply to a common environment. But it is also probable that the genetic element in the causation of the disease is only a predisposition, and that additional unknown factors determine whether intolerance to gluten develops.
A NOTE ON DEAF MUTISM
Authors: CHUNG C. S. , ROBISON O. W. , MORTON N. E. 
Published: September 2007

SummaryThe congenital deaf mute (HD) population of Northern Ireland, reported by Stevenson & Cheeseman, appears by maximum likelihood segregation analysis and the theory of detrimental equivalents to consist of three types.1. Autosomal recessives, complete penetrance, 68% of all HD cases, at least several loci, average mutation rate 1 × 10‐5 per locus, carrier frequency 0–080 per gamete.2. Autosomal dominants, high but not complete penetrance, 22 % of all HD cases, at least two loci, total mutation rate 5 × 10_5 per gamete.(a) Genes inherited from affected parents, 7 % of all cases.(b) New mutants inherited from normal parents, 15 % of all cases.3. Sporadic cases, due to unrecognized infection or more complex genetic mechanisms, 9 % of all cases.On the evidence, the hypothesis that the (non‐significant) excess of affected boys is due to sex‐linkage can neither be proven nor excluded. Ex hypothesi, sex‐linked cases account for less than 2 % of all HD cases, with a mutation rate of 2 × 10‐6 per X chromosome per generation.The hypotheses of heterozygote advantage, absence of dominant cases, synergistic effect of nonallelic recessive genes, and hypotruncate selection are shown to be inconsistent with the data. Studies on deaf mutism in other populations do not disagree with these conclusions.The theory of detrimental equivalents is extended to rare traits with retrospective ascertainment of consanguinity, giving estimates of carrier frequencies, number of loci, and mutation rates for recessive genes.
OBSERVATIONS ON THE RESULTS OF PREGNANCIES IN WOMEN RESIDENT IN BELFAST
Authors: STEVENSON A. C. , DUDGEON M. Y. , McCLURE H. I. 
Published: September 2007

The outline data concerning the 1127 abortions identified in 1110 Belfast resident women in 1957 are set out in Table 1.SummaryData are presented of 1110 women who had 1127 post 4‐week abortions which occurred in Belfast in 1957. These are believed to represent a high proportion of all such abortions which occurred in the city, but the frequency of 11.8 per 1000 pregnancies must be minimal. It is suggested that the true figure lies between this figure and 16 %. There is no evidence to suggest that more than a small fraction of abortions, say 1 %, are criminally induced.Data are also presented relating to 983 women who had 1002 consecutively admitted abortions in two hospitals (X and Y). This series was studied in more detail as more complete data were available. Aetiological factors are discussed.
A genetical analysis of thirty families with Wilson's disease (hepatolenticular degeneration)
Authors: BEARN A. G. 
Published: September 2007

SummaryA genetical analysis has been carried out on thirty‐two patients with Wilson's disease from thirty families obtained largely from the New York area. Fourteen of the thirty‐two patients (43.75 %) were of eastern European origin (Jews) and eight (25.0 %) came from the Mediterranean (non‐Jews); both groups came from geographically circumscribed areas.A number of differences were observed between the patients who were Jews from eastern Europe and the Mediterranean and other groups. The Jews, on an average, tended to have more consanguinity, a later onset of the disease and, consequently, a relatively increased fertility. Clinically there was no predilection for either group to have a particular type of the disease. The Jewish group of patients had an increased variance in the serum copper and ceruloplasmin levels relative to the Mediterranean group. The patients with a normal level of ceruloplasmin came from the eastern Jewish group.Not all these differences were significant statistically and collection of more cases will be needed before firm conclusions can be drawn. The possibility that the eastern European Jewish population may possess a modifying gene and the possibility that more than one allele is present at the Wilson's disease locus is discussed.It should be emphasized that the evidence available is insufficient to state that ceruloplasmin is the primary gene product in Wilson's disease. If further evidence lends support to this view it will be necessary to perform structural studies on ceruloplasmin obtained from patients with Wilson's disease of various geographic origins in order to investigate the possibility of chemical allelism.This manuscript was written during the tenure of the position of Honorary Research Assistant at the Galton Laboratory, London. I am very much indebted to Prof. L. S. Penrose for his constant advice and for his critical reading of the manuscript.
The twinning rate in Europe and Africa
Authors: BULMER M. G. 
Published: September 2007

SummaryData are presented on the twinning rate among Europeans and Negroes. The monozygotic twinning rate is constant; there is, however, considerable variation in the dizygotic rate. The dizygotic rate is higher among Negroes than Europeans. There are also variations within these groups. In particular there seems to be a centre of low twinning rate in south‐west Europe.I should like to thank the following who have gone to great trouble in sending me data: E. A. Barker, Nqutu, Zululand; C. J. Dricot, Leopoldville; S. H. O. Jones, Bathurst, Gambia; Yayoichi Karube, Tokyo; Prof. Lambillon, Leopoldville; J. B. Lawson, Ibadan, Nigeria; J. M. Samson, Johannesburg; Prof. J. B. Stewart, Jamaica; K. H. Uttley, Antigua.
The Klinefelter‐mongolism type of double aneuploidy
Authors: HARNDEN D. G. , MILLER O. J. , PENROSE L. S. 
Published: September 2007

SummaryClinical and laboratory details of a previously described case of multiple aneuploidy in man are given. The family history is also described in detail.The writers wish to thank a number of people who co‐operated in the investigations described in this paper. The testicular biopsy was performed by Mr B. D. Stutter and sections were prepared by Miss M. Mann and Dr P. E. Hughesdon. Steroid analysis was carried out by Dr I. F. Sommerville, Dr W. R. Trotter conducted the tests of thyroid function, Dr Sylvia Lawler typed the red cells and Dr A. Shapiro provided clinical information. For family history data we are indebted to Mrs J. M. Berry, Mr A. L. Hovenden, Mr B. D. Stutter and Miss B. J. Warland.