bluuebunny/crossref_metadata_2025_split huggingface dataset:
BLOOD GROUPS OF THE NORTHERN NILOTES
Authors: ROBERTS By D. F. , IKIN ELIZABETH W. , MOURANT A. E. 
Published: September 2007

SummaryFrequencies are given of A1A2BO, MNS, Rh, P, Lutheran, Hunter and Henshaw blood groups among Dinka, Nuer, Shilluk and Mabaan, of Upper Nile Province, Sudan. The Mabaan appear to be distinct from the three Northern Nilotic peoples who, the results indicate, are genetically similar to each other. The results are compared with those from other African samples, and it appears that the general classification of East African peoples on cultural grounds is supported by the evidence of the ABO blood groups. It is suggested that the Northern Nilotes may, like the Bushmen, be surviving representatives of an ancient African stock whence has been derived a major component of the present day population of Africa.
GENETICAL INVESTIGATIONS IN A NORTH‐SWEDISH POPULATION
Authors: BööK J. A. 
Published: September 2007

SummaryAn attempt has been made to outline the genetical demography of a geographically relatively isolated north Swedish population during 1900–50. The region, which is divided into three parishes, P, J and M, was characterized by high birth‐rates and low in‐migration rates. The main results were as follows:(1) The mean inbreeding coefficient was estimated at 0·002 for the total population and for the parishes P, J and M at 0·0008, 0·0024 and 0·0058 respectively.(2) The mean effective population size of the parishes P, J and M was estimated at about 650, 300 and 150 for the period 1900–50.(3) The analysis indicated that the population of the total area should not be regarded as one breeding unit but rather a minimum of 3.(4) The distribution of two well‐defined simple recessive morbid conditions was studied. Genetical spastic oligophrenia, an entity discovered in this population, occurred with an average frequency of 2·6 per 1000 births. The incidence in the most isolated parish, M, was significantly high as compared with P + J. Recessive deaf mutism occurred with a frequency of 1·3 per 1000, which is close to three times the average for Sweden. This difference, and the occurrence of a specific genetical defect in this population, may be interpreted as mainly due to random gene fluctuations.
THE NUMBERS OF HUMAN MULTIPLE BIRTHS
Authors: BULMER M. G. 
Published: September 2007

SummaryIt is suggested that the two processes leading to multiple births (release of extra eggs and division of the embryo) are independent, random events. Deductions from this hypothesis made by other authors are shown to be incorrect and the correct formulae are derived. It is shown that these formulae predict correctly the numbers and types of triplet maternities but underestimate the number of quadruplet maternities.
ESTIMATES OF THE SEX RATIO OF MUTATION RATES IN SEX‐LINKED CONDITIONS BY THE METHOD OF MAXIMUM LIKELIHOOD
Authors: SMITH C. A. B. , KILPATRICK S. J. 
Published: September 2007

SummaryThe method of maximum likelihood is used to provide estimates of the ratio of the mutation rate in females and males, for a sex‐linked recessive trait, Duchenne type muscular dystrophy on three surveys from the literature.One of the estimates (from the Northumberland and Durham data) appears to be significantly lower than the other two. There is a corresponding deficit of single affected fraternities in this survey on the assumption that a detectable mutation rate exists.The combined estimate for Northern Ireland and Utah, x = 0.3506 ± 0.1110, is taken as the best available estimate. This leads to a sex ratio (μ/v) of 1.1734 which is consistent with equal mutation rates.
MECHANICS OF SELF‐REPRODUCTION
Authors: PENROSE L. S. 
Published: September 2007

SummaryThe construction of various types of machines which can be automatically self‐reproducing, in a sense derived from von Neumann, has been outlined. The features, which any such machine must possess, have been discussed and their possible significance in the understanding of DNA replication has been indicated.I am much indebted to Dr C. A. B. Smith for his valuable suggestions in the interest of making this paper comprehensible, and to Mr A. J. Lee for his admirable drawings.
MICROCEPHALY IN THE NETHERLANDS: A CLINICAL AND GENETICAL STUDY
Authors: VAN DEN BOSCH J. 
Published: September 2007

SummaryData were collected on the incidence, geographical distribution, and genetical aspects of 113 cases of microcephaly in the Netherlands: thirty‐nine cases, or about 34 %, appeared to be of special genetic origin.In the ‘genetic’ material the sex ratio (twenty‐seven boys, twelve girls) appeared to be deviating from the total population ratio of approximately 1:1, but proved to be in accordance with the expectation, 1.56:1, for a population of mentally defective children cared for in institutions in the Netherlands.Consanguinity among the parents of the ‘genetic’ propositi was found in 54 % of the cases. In 23% the parents were first cousins. In 24% no genetical arguments could be shown to exist for the diagnosis ‘special genetic type’. In 24 % the only confirmation on genetical grounds was the existence of more cases in sibship and/or family.The most likely ratio of microcephalic to normal sibs was 0.362, σ= 0.0597. The deviation from the expected ratio in recessivity, 0.25, is 0.112, or 1.88 times the standard deviation, so it seems likely that, in our material, recessive genes are playing an important part.The incidence of special genetic microcephaly is about 1:250,000 in the Netherlands, of all microcephaly about 1:93,000.The difficulties encountered by the investigator are discussed.
A NEW GENETIC POPULATION MODEL, AND ITS APPROACH TO HOMOZYGOSITY
Authors: WATTERSON G. A. 
Published: September 2007

SummaryA simple genetic population is considered in which births occur in succession, but each birth entails the death of one parent. The asymptotic rate of approach to homozygosity for this population is shown to depend on the degree of positive assortative mating inherent in the mating system, and the rate decreases with increasing assortative mating, except for complete positive assortative mating, when the rate is very fast. The probabilities of the gene frequencies having specified values after many generations are found, and gene fixation will always occur except in a population practising complete positive assortative mating.The results for this model are compared with those obtained for other models studied by Wright and Moran, and it is found that the present model is very similar to Wright's model under random mating but, otherwise, substantial differences in behaviour may occur.
FAMILIAL ALZHEIMER'S DISEASE
Authors: WHEELAN LORNA 
Published: September 2007

Summary1. A family was recorded in which two family members, out of a sibship of ten, were investigated in hospital and had the clinical diagnosis of Alzheimer's disease confirmed by post‐mortem examination in both cases. In addition, two sisters, one brother and the mother, were reported to have suffered from a similar illness, and may be considered to have had the same condition.2. Blood grouping was carried out on thirty‐one members of the family, an investigation designed to study genetic linkage. This section of the study is reported by Dr R. R. Race in an appended note.3. The symptomatology of the family members conformed in most aspects with the numerous clinical descriptions, but certain symptoms like motor restlessness and epileptic fits were not prominent. The age of onset was slightly earlier in females than in males, and there was a preponderance of females. The family pedigree suggested a dominant mode of inheritance. The theory of multifactorial inheritance with varying threshold differences in families may explain the differences in manifestation of the disease.4. A further investigation of the hospital records was carried out. Twenty cases of clinically diagnosed Alzheimer's disease and one pathologically verified case were studied. This revealed three more familial cases, and in one of these the diagnosis had been proved to be Alzheimer's disease in one family member on post‐mortem examination.5. The findings of the whole investigation suggested that familial Alzheimer's disease was more common than has been previously stressed, and indicated the need for more detailed studies of affected families.
A NOTE ON THE EFFECTS OF METHOD OF ASCERTAINMENT ON SEGREGATION RATIOS
Authors: SMITH CEDRIC A. B. 
Published: September 2007

SummaryThe problem of considering segregation ratios for rare conditions is considered. Methods of estimating this segregation ratio are described for the cases of complete ascertainment, and probability of ascertainment proportional to the number of affected; tests for homogeneity of the segregation ratio are also described. Some comments are made on estimation procedures described by previous workers.
Micro‐evolution among the Susak islanders. Inbreeding, sterility, blood groups and red hair
Authors: DOLINAR ZLATA 
Published: September 2007

SummaryEndogamy and inbreeding are characteristics of the Susak population. In the present reproductive generation there is no full first‐cousin mating. Total consanguinity is 8.6 % and this is half as high as is required by random mating. The marriages of more remote relatives (beyond F2C) are as frequent as over 16 % of all matings in generation III. This frequency is similar to that required by random mating. Only for the youngest generation inbreeding coefficients were included for the determination of the mean coefficient. Their range is 0.0312–0.0020. The mean inbreeding coefficient for inbred individuals is 0.0141, and the mean for the whole generation I is 0.0026. For inbreeding coefficients consanguineous marriages of the previous generations are not taken into account. Among related sibships sterility appears to be raised, its frequency being over 13 %. The second‐cousin matings contribute the most to the mean inbreeding coefficient.The frequency of red‐haired persons is high. Our rough estimate gave 14 % of carriers with visible components for red‐haimess. There is no obvious connexion between inbreeding and red‐hairness. Among red‐haired individuals there are no carriers of the gene B. There is a higher ratio of O to A blood groups.The proportions of blood groups show very few B, many O, and even more A. This special ABO distribution could be the result of genetic drift. The distribution between the generations, as well as between the sexes, is not significantly different. The gene inflow in generation II is 4.36 %. Concerning O × A matings and their offspring we could not find any influence of natural selection. On the other hand, among A infants from A mothers there was a different proportion of sexes from that among O children from O mothers.
Birth weight and related variables for offspring of mothers aged 42 or more years
Authors: BARRAI I. , FRACCARO M. , LINDSTEN J. , ZEI GIANNA 
Published: September 2007

SummaryBirth weight and related variables are analysed in a sample of 960 babies born in three Swedish Maternity Clinics to mothers aged 42 years on more. The sample is analysed by sex and survival (1 week), and means and standard deviation are calculated accordingly. Correlation and partial correlation and analysis show that the variation in birth weight, which increases with parity, is associated more with succession of births than with parental ages. There is a significant deviation from independence of sex ratio with parity, and the highest contribution to x2 is given by the first parity. There is found a significant parabolic regression of sex ratio on parity. This indicates that parity per se is more relevant in determining the slight changes in sex ratio than parental ages, of which they are independent.The proportion of non‐survivors is significantly higher than the comparable incidence for the general population of births in Sweden. The birth weight associated with the lowest mortality is higher than the means in both males and females. This has been estimated by the use of the 2 value of Penrose.During the preparation of this paper M. Fraccaro was a guest of the Gruppo di Ricerca 3B del CNEN, at the Institute of Genetics, Pavia. He wishes to thank Prof. L. L. Cavalli Sforza for his kind hospitality.
Glucose‐6‐phosphate dehydrogenase deficiency in the peoples of the Niger Delta
Authors: HARRIS R. , GILLES H. M. 
Published: September 2007

Summary1. The results are recorded of screening tests for G6PD enzyme activity in 902 Nigerians chosen at random from Rivers Province in the Niger delta.2. Evidence is provided of a lowering of mean falciparum ring count among enzyme‐deficient children.3. The trait frequency amongst males was 21 %.4. The female results showed a lower frequency of enzyme‐deficient individuals than was expected from the male frequencies.5. Possible reasons for this were discussed in relation to the problem of a polymorphism at a sex‐linked locus.This paper was read at a meeting of the Society for the Study of Human Biology (21 April 1961) and represents part of an M.D. thesis submitted by one of us (R.H.) to the University of Liverpool.The field work was made possible by a Nuffield Foundation Grant and with the co‐operation of the Rural Health Service of the Ministry of Health, Eastern Region, Nigeria. The illustrations were prepared by Mr D. J. Kidd and Mr A. Herbert, Faculty of Medicine, University of Liverpool.We are deeply indebted to Dr G. A. Harrison, Anthropology Laboratory, Department of Anatomy, University of Liverpool for his many helpful criticisms.
The electron microscopy of unsectioned human chromosomes
Authors: BARNICOT N. A. , HUXLEY H. E. 
Published: September 2007

Summary1. A technique is described for transferring spread cells to electron‐microscope grids and for staining the chromosomes with uranium and lead.2. The appearance of the chromosomes under the electron microscope, especially the acrocentrics, is described.Our thanks are due to Miss Mary Bogati for technical assistance in the culture work and to Miss Pamela Dyer for help with the electron microscope work. We are also grateful to Prof. L. S. Penrose and Dr J. R. Ellis for providing cells from the case of mongolism here described.
Red cell glucose‐6‐phosphate dehydrogenase activity in individuals with abnormal numbers of X‐chromosomes
Authors: HARRIS H. , HOPKINSON D. A. , SPENCER N. , BROWN W. M. COURT , MANTLE D. 
Published: September 2007

SUMMARYRed cell glucose‐6‐phosphate dehydrogenase (G‐6‐PD) activity was measured in fourteen XXX, eleven XX Y, three XO individuals, four individuals who were 17 but had testicular feminization, and in appropriate male and female controls. No evidence for any quantitative relationship between the number of X‐chromosomes present and the level of red‐cell G‐6‐PD activity was observed. Since G‐6‐PD is known to be determined by at least one gene locus in the X‐chromosome, these results in agreement with others imply complete dosage compensation.In thirteen patients with thyrotoxicosis a significant elevation of the mean level of red cell G‐6‐PD was demonstrated, indicating that such increases could be detected under the general conditions of the investigation.The results are discussed in terms of various hypotheses accounting for dosage compensation.
Theoretical evidence for an autosomal modifying gene pair in glucose‐6‐phosphate dehydrogenase‐deficient families
Authors: BOWMAN JAMES E. , SMITH SHEILA MAYNARD 
Published: September 2007

SUMMARY

Various glucose‐6‐phosphate dehydrogenase‐deficient pedigrees from the literature violating classical patterns of sex‐linked inheritance are reviewed and discussed.
It is suggested that anomalous phenotypes observed in these families may be the result of epistatic reactions between the effects of abnormal sex‐linked genes or gene and an autosomal pair.
Nail‐patella syndrome coupled with blood group B in a New Zealand family
Authors: GOODALL C. M. 
Published: September 2007

SUMMARYFurther evidence for genetical linkage between the nail‐patella and ABO loci has been found in a New Zealand family.I wish to thank Sir Charles Hercus for his encouragement and Dr A. C. Begg, Mr J. Case, Dr J. B. Howie and Dr D. H. Sutton for their assistance with radiographs and the blood groups. I am particularly grateful to Dr J. H. Renwick for generous and helpful advice and to members of the family for their co‐operation.
Translocation and trisomic mongol sibs
Authors: BARNICOT N. A. , ELLIS J. R. , PENROSE L. S. 
Published: September 2007

SUMMARYA family in which there were two mongol sisters is described. Cytological investigation showed that the elder sister had a chromosomal translocation and the younger was a mongol of the standard trisomic type. The translocation chromosome, as observed under the electron microscope, was found to have an unusual centromere structure. Possible origins of the translocation are discussed.The writers wish to extend their thanks to Dr H. E. Huxley for photographing the preparations under the electron microscope, to Miss Ruth Marshall for red cell antigen typing and for culturing a specimen of peripheral blood, to Dr Sarah B. Holt for analysing the finger dermal ridge patterns, to Mr A. J. Lee for drawings, to Miss Marie Bogati and Mr N. P. Bishun for assistance with fibroblast cultures, to Miss Barbara Warland for family history notes, to Dr D. H. H. Thomas, Dr G. E. B. Scott and Dr J. E. Bowman for assistance with clinical examinations and to Miss H. Lang‐Brown for help in compiling the paper for publication. The work was supported in part by a grant (RG‐6984) from the United States Public Health Service.
P.T.C. tasting among Tucano Indians*
Authors: MONTENEGRO L. 
Published: September 2007

SummaryThe ability to taste P.T.C. was observed among 128 indians not closely related (not parents and children, nor brothers), belonging to the Tucano group of the region of Uauptss, on the upper Negro River, State of Amazonas, Brazil, there being fifty‐five males and seventy‐three females in the sample. The technique used was that of Harris and Kalmus.In the whole group, the results show a proportion of 6.24% of non‐tasters, with a clear difference in the distribution of the character in the two sexes: 12‐6 % of non‐tasters among males, and 1–4 % among females, which gives a x2 of 6.64, with P =0.01.
The birth weight and survival of Ghanaian twins
Authors: HOLLINGSWORTH M. J. , DUNCAN CATHERINE 
Published: September 2007

Summary

286 Ghanaian twin births are analysed with regard to birth weight, maternal age, panty and survival. They are compared with similar European data.
There is a significant but unexplained shortage of femalefemale twins.
The differences between the Ghanaian and European twin weights (0.2 1b.) are much less than the differences between the weights of single babies (0.9 1b.).
The very high correlation (r= 0.8) between parity and mother's age in the data is due to the association between twinning and these variables, The high parity of the Ghanaian women may account for their high twin rate.
The mortality rate of Ghanaian twins (15%) is similar to that of Italian twins and lower than that for some English twins (21%). This is shown to be largely due to the lower proportion of low‐weight Ghanaian twin babies. It is suggested that this may be because twinning is a more natural phenomenon in Ghanaian than in European women.
ABO frequencies in mongolism*
Authors: GOODMAN HAROLD O. , THOMAS JAMES J. 
Published: September 2007

SummaryThe ABO blood types of 581 institutionalized mongoloid subjects were determined and compared with blood types of a like number of non‐mongoloid retardates drawn from the same institutions. No significant differences in counties of residence of the two groups were detected. Comparison of the ABO frequencies revealed a slight deficiency of types O and B and a comparable excess of types A and AB among mongoloids, but the differences do not reach conventiond significance levels. Theoretical considerations indicate that the data neither support nor controvert the hypothesis of linkage of the ABO locus to chromosome 21, and that linkage of any locus exhibiting complete dominance will be difficult to establish using population gene frequency analyses, unleea the locus is absolutely linked to the kinetochore and trisomics arise largely or solely through fist meiotic division non‐disjunction.
Taste polymorphism to anetholtrithione and phenylthiocarbamate
Authors: DAWSON W. , WEST G. B. , KALMUS H. 
Published: September 2007

SummaryThe taste thresholds for alcoholic solutions of anetholtrithione (ATTH) in a student sample were found to be bimodally distributed. This substance does not contain the NC=S group which until now has been the only one to produce bimodality. Taste sensitivity to ATTH is highly correlated with PTC sensitivity and presumably is largely controlled by the same alleles.
Is Weinberg's differential rule defective ?
Authors: RENKONEN K. O. 
Published: September 2007

SummaryThe Weinberg differential rule seems to be defective in the sense that the found monozygotic twins are less numerous than expected.This study has been supported by grants from the Sigrid Jushlius Foundation. I wish to express my thanks to doctor K. E. Bruun for access to the twin series of the Finnish Foundation for Alcohol Research.
Linkage relationships between the three phosphoglucomutase loci PGM1, PGM2 and PGM3
Authors: PARRINGTON JENNIFER M. , CRUICKSHANK GILLIAN , HOPKINSON D. A. , ROBSON ELIZABETH B. , HARRIS HARRY 
Published: September 2007

Summary1. Phosphoglucomutase phenotypes have been studied in several generations of the family of an individual heterozygous at each of the three loci, PGM1, PGM2, and PGM3.2. PGM1 and PGM2 phenotypes were determined using red cells. Fibroblasts grown in tissue culture were used for PGM3 phenotyping.3. The family results support the genetical hypothesis based on the analysis of dizygotic twin pairs that the PGM3 isozyme patterns found in the placenta are determined by two alleles, PGM13 and PGM23.4. Locus PGM3 is not closely linked to locus PGM25. The data also support the previous findings that locus PGM1 is not closely linked to PGM2 or PGM3.
Twin zygosity and placentation
Authors: CORNEY G. , ROBSON ELIZABETH B. , STRONG S. J. 
Published: September 2007

SummaryThe relationship between placentation and zygosity is discussed in an unselected series of 326 twin births. Zygosity determinations were based on sex, red‐cell antigens ABO, MNSs, Rh, Lua, K and Fa, the red‐cell enzymes Ac. P., 6‐PGD, PGM1 and AK and placental alkaline phosphatase. The results indicate that, whereas dizygotic twins are always dichorionic, between 15% and 20% of monozygotic twins may also be dichorionic. Tables are given which allow information on the enzyme phenotypes to be utilized in estimating the probability of dizygosity in the case of twin pairs alike for all characters tested, where the types of the parents are unknown.
Book reviews
Authors: Pratt. R. T. C. 
Published: September 2007

Book reviewed in this article: The Genetics of Gastro‐Intestinal Disorders. By R. B. Mconnell. Race and Modern Science. Edited by R. E. Kuttner. Recent Results in Cancer Research. Volume XII. Hereditary Factors in Carcinoma. By Henry T. Lynch. Prevention of Cancer. Pointers from Epidemiology. By Richard Doll. Lékàská Genetika (Medical Genetics). By M. & Ccar; erny. Malformations associées de la téte et des extrémités. By P. Tridon and M. Thiriet.