bluuebunny/crossref_metadata_2025_split huggingface dataset:
Changing marriage systems in the Jewish communities of Israel*
Authors: GOLDSCHMIDT ELISABETH , RONEN AMIRAM , RONEN ILANA 
Published: September 2007

SummaryThe rates of consanguinity among the parents of babies born in Israel during 1955‐57 were estimated by screening the maternity wards. First‐cousin marriages ranged between 1 and 2 % in Ashkenazic Jews, while the majority of the other Jewish communities exhibited far higher rates of consanguinity.There is little basis for the assumption that the incidence of cousin marriages in Jewish groups reflects the sizes of the isolates in the diaspora. The non‐randomness of such unions finds expression in the distinct preference for marriages between the children of like‐sexed sibs.Cousin marriages between persons originating from different countries testify to some amount of gene flow, which occurred in the recent past between the different groups in the diaspora.Among several ethnic groups, the marriages concluded after immigration to Israel exhibit a trend towards declining consanguinity rates. While this tendency might merely indicate the break‐up of the smaller isolates, which have hitherto existed within the communities, a process of merging between these larger units has also set in on a very large scale. Ashkenazic Jews originating from different countries intermarry at an increasing rate. At present only a minority of persons belonging to the smaller Ashkenazic groups choose partners of identical origin. Around 10 % of Ashkenazic Jews contract marriages with members of the other communities. Intercommunity marriages between the various non‐Ashkenazic congregations are also very common.A rough estimate of the genetic risk involved in consanguineous unions was obtained by comparing the mean numbers of live children after different durations of marriage in cousin families and others. In two out of five such comparisons, the cousin families exhibited a small but significant disadvantage. However, no difference in family size could be detected between mothers, who are offspring of first cousins and all other mothers in the sample.We are greatly indebted to Dr Shaul Merin, who participated in some of the field work during this survey. In the sorting and evaluation of the data we were assisted by Fredy Gruber, Sarah Rapaport, Navah Bloch and Elisheva Barak.It is a pleasure to acknowledge the courtesy and co‐operation of the medical authorities and the nursing staff of the following maternity wards: Rambam Government Hospital, Haifa; Rothschild Municipal Hospital, Haifa; Hadassah Municipal Hospital, Hakirya, Tel‐Aviv; Governmental Hospital, Tsahalon Division, Jaffa, T.A.; Beilinson Hospital, Petah‐Tiqwa; Hadassah University Hospital, Jerusalem; Bikur Holim General Hospital, Jerusalem; Shaarei Tzedek, General Hospital, Jerusalem.We are also much obliged to Prof. R. Bachi, Director of the Central Bureau of Statistics, Government of Israel, for consultations and references.
Natural selection and the sex ratio
Authors: BODMER W. F. , EDWARDS A. W. F. 
Published: September 2007

SummaryWe have put Fisher's theory of the control of the sex ratio by Natural Selection on an analytic basis. This has enabled us to derive an expression for the selective advantage attached to reproduction with a given sex ratio, and to show that this depends on the sex ratio at the end of the period in which the offspring incur expenditure by their parents. It is this sex ratio which is probably stabilized near the value one‐half by Natural Selection. The rate of approach of a population to its equilibrium sex ratio depends on the available genetic variance in the sex ratio, and since this is probably small, evolutionary changes in the sex ratio of natural populations will almost certainly be too slow to detect.
A chromatographic study of abnormal urinary amino acid excretion in mutant mice
Authors: BENNETT DOROTHEA 
Published: September 2007

SummaryPaper chromatography has revealed a proteinuria and generalized aminoaciduria in young mice homozygous for the mutation brain hernia at a time prior to the development of severe polycystic disease. As the polycystic disease becomes established, the urine becomes more dilute than normal.The urine of very young mice of both mutant and normal genotypes has proved to be excellent material for the chromatographic analysis of amino acids.The author acknowledges with thanks many helpful discussions with Prof. L. C. Dunn during the course of this project.
The structure of consanguineous marriages and its genetic implications §
Authors: FREIRE‐MAIA N. , FREIRE‐MAIA A. 
Published: September 2007

SummaryThe values of the coefficients of inbreeding for sex‐linked genes have been calculated for each one of the subtypes of first‐cousin once removed, and second‐cousin marriages.Data are presented on the incidence of the different subtypes of uncle‐niece, aunt‐nephew, first‐cousin, first‐cousin once removed, and second‐cousin marriages in a number of Brazilian populations. The genetic implications of the findings are inferred and discussed.An analysis is made of the mating system, widely known in ‘primitive’ societies, which favours cross‐cousin marriages and disapproves parallel cousin marriages.We are highly indebted to the ecclesiastical authorities who made their files available for analysis. Our thanks are also due to Dr R. Deraemaeker for allowing us to present his unpublished data in Table 1.
Some possible effects of birth control on the human sex ratio
Authors: GOODMAN L. A. 
Published: September 2007

SummaryThe discussion presented here is intended to clarify some of the problems arising in an analysis of the possible effects of birth control on the human sex ratio. Formulas are presented indicating some of the ways in which the sex ratio can be modified as a result of the use of birth‐control methods. These formulas lead to different conclusions from those presented in the earlier literature on this subject. Further empirical research, along lines suggested by the considerations arising from the present discussion, is needed. The overall effect of birth control on the sex ratio will depend upon, among other things, the particular kinds of preferences for male offspring that influence the married couples in the population, the particular kinds of preferences for female offspring that influence the married couples in the population, the particular ways in which these preferences affect the parents' decisions as to whether or not to have another child (if they make such decisions), the relation between the parents' decisions and their probability, pt, of bearing a boy, the effectiveness with which these decisions are carried out, the relation between family size and pit the distribution of the pi in the population, and the nature of the v< as a function of all relevant variables.
Frequency of colour blindness in Andhra Pradesh school children
Authors: DRONAMRAJU K. R. , MEERAKHAN P. 
Published: September 2007

SummaryOut of 292 boys and 272 girls tested for colour blindness in Andhra Pradesh 22 boys and one girl were judged to have abnormal colour vision. Difficulties in classification are emphasized.We are grateful to Dr H. Kalmus for his advice on the classification of abnormals and to Dr H. Spurway for criticizing the manuscript.
Hand clasping (Spanish data)
Authors: PONS JOSE 
Published: September 2007

SummaryManner of hand clasping was investigated in 688 Spaniards. The analysis of the series of unrelated individuals suggests a sexual bimodality in the trait, the female series containing higher R frequency than the male. The frequency of R individuals in both sexes increases with age. The analysis of family data shows some parental influence on the type of hand clasping, but no simple Mendelian mechanism is found. There is no assortative mating.
The serum cholinesterase variants. A study of twenty‐two families selected via the ‘ intermediate' phenotype
Authors: HARRIS H. , WHITTAKER MARY 
Published: September 2007

SummarySerum cholinesterase dibucaine numbers were determined in 119 individuals from 22 families selected through propositi with the ‘ intermediate’ phenotype as denned by dibucaine number. Nineteen of the spouses and 78 of the children of the propositi were studied.The distribution of dibucaine numbers in the children was bimodal and they could be classified into 43 individuals with the ‘usual’ phenotype and 37 individuals with the ‘intermediate’ phenotype. All the spouses of the propositi had dibucaine numbers characteristic of the ‘usual’ phenotype. Thus the data were consistent with earlier work indicating that the individuals of the ‘intermediate’ phenotype are heterozygous. Fluoride numbers were also determined in the serum of all these individuals. The distributions were again bimodal, and classification into two phenotypes on this basis corresponded closely to that obtained with dibucaine. However, a small number of individuals were found in whom the two methods of classification were discrepant. They were concentrated in two families. The findings suggest the existence of two new uncommon phenotypes, one previously included in the ‘usual’ phenotype and the other in the ‘intermediate’ phenotype. The possible genetical basis of these new phenotypes is discussed.The spectrophotometer used in this investigation was purchased with a grant from the Central Research Fund, University of London.
The metabolism of methyl thiouracil and thiopentone in tasters and non‐tasters of P.T.C.
Authors: EVANS D. A. PRICE , KITCHIN F. D. , RIDING J. E. 
Published: September 2007

SummaryVolunteer subjects were given an oral dose of 15 mg. methyl thiouracil per kg. metabolically active mass (wt.0–7). The urine was collected for 4 hr. thereafter and the percentage of the dose excreted in that time has been estimated. There is no indication of bimodality in the distribution of these percentages. The P.T.C. taste threshold titre has been assessed on thirty‐three of the subjects. There is no correlation between the P.T.C. taste titre and the percentage of the dose of methyl thiouracil recovered.Patients free of constitutional disease were given a dose of 20 mg. thiopentone per kg. metabolically active mass (wt.0–7) intravenously. The plasma thiopentone concentration has been determined on blood taken from the opposite arm from that used for drug injection at 2, 5, 10 and 20 min. following drug injection. The patients' P.T.C. taste titres were determined. Analysis of the data reveals no significant differences in the 2 min. plasma thiopentone concentrations or in the fall of plasma thiopentone concentrations in tasters as compared with non‐tasters.The significance of the findings is discussed.
Structural heterozygosis in man: analysis of two families
Authors: EDWARDS J. H. , FRACCARO M. , DAVIES PAMELA , YOUNG R. B. , PENROSE L. S. , HOLT SARAH B. 
Published: September 2007

SummaryTwo families are described in each of which the father is presumed to have an autosomal reciprocal translocation as a result of which both children in one family, and one of three children in the other, are grossly abnormal. The reciprocal translocations are probably between chromosomes nos. 9 and 4 in the first family, and chromosomes nos. 1 and 6 in the second family. The abnormalities of karyotype in the children are regarded as examples of duplication deficiencies. Unusual dermal ridge patterns were observed in the individuals with abnormal karyotypes.
Familial Langdon Down anomaly with chromosomal fusion
Authors: PENROSE L. S. , DELHANTY JOY D. A. 
Published: September 2007

SummaryA family has been described in which the Langdon Down anomaly occurred in two sibs, both of whom have forty‐six chromosomes and a fusion of the 15/21 type. This fusion was also found in one normal sister, mother and grandmother. Another sister, the father, maternal grandfather and mother's brother had normal karyotypes. Palmar dermal configurations were correlated with the presence of the chromosomal fusion.The writers wish to express their gratitude to all those who co‐operated in this investigation. In particular they would like to thank Dr Marion Ravell, Dr H. P. Smith, Dr R. M. Bates, Dr A. P. Madigan, Dr Sylvia Lawler, Dr Margaret Penrose, Dr Sarah B. Holt, Miss Ruth Marshall, Miss Barbara Warland, Miss Helen Lang‐Brown, Miss Naziha Farman and Mr A. J. Lee. They would specially mention the kindness and co‐operation of the members of the family studied.We are grateful to the Medical Research Council for a grant to J.D.A.D.: a research grant (RG‐6984) from the United States Public Health Service made the study possible.
Reading of Ishihara (1959) Plates 14 and 15: A new X‐linked recessive colour vision anomaly?
Authors: DRONAMRAJU K. R. 
Published: September 2007

SUMMARYFrequency data on 577 males and 608 females from Orissa, India are presented which suggest that the ability to read Plates 14 and 15 of Ishihara (1959) test is determined by a group of X‐linked recessive genes. Five out of the six pedigrees investigated are compatible with the hypothesis. The frequency among males is 34.3% and among females 6‐4%. The frequency of colour blindness (in the usual sense) is 4–6 % among males and 0.16 % among females.I am grateful to Prof. J. B. S. Haldane, F.R.S. for helpful suggestions and guidance. Messrs M. R. Shastry and P. Srihari Rao assisted in the work.
Studies on linkage between Galactosaemia and the blood groups
Authors: DONNELL G. N. , KOLER R. , SMITH SHEILA MAYNARD 
Published: September 2007

SUMMARYPedigrees, blood types for ABO, Rhesus, MN, Kell, Duffy and Lewis, and erythrocyte galactose‐1‐phosphate uridyl transferase values are presented for eighteen families ascertained because of a galactosaemic child. There is no evidence for linkage between galactosaemia and any of these blood group loci.The authors would like to express their gratitude to all those who have helped in this investigation, particularly Dr Phillip Sturgeon, in whose laboratory the blood typing was performed, Mrs Grace Perry, Mrs Karen Richardson, Mrs Dorothy McQuiston, Dr William Bergren and Miss Maria Reisz.
Testing for heterogeneity of recombination fraction values in Human Genetics
Authors: SMITH CEDRIC A. B. 
Published: September 2007

SUMMARYA method is described for the detection of heterogeneity of recombination fraction values in human data. It uses a comparison of likelihood values. It is applied to the data on elliptocytosis and rhesus previously considered by Morton (1956), together with some new data reported by Bannerman & Renwick (1962). Morton's conclusion that there exists heterogeneity is supported by the new test. The data appear to be best explained by the hypothesis that the families divide themselves into two groups. In the first group, which amounts to something between 20 and 90 % of the whole, the locus for elliptocytosis is closely linked with that for rhesus, the recombination fraction being between 0.01 and 0.1. In the remaining families the two loci are unlinked.
Measurements of likeness in relatives of trisomies
Authors: PENROSE L. S. 
Published: September 2007

SUMMARYThe significance of correlation coefficients for measuring likenesses between trisomies, their parents and sibs is discussed. Expected formulae and values are given which are based on three different assumptions about non‐disjunction. The most marked distinction is found between correlations for trisomic child and aberrant parent, in whom non‐disjunction has occurred, and that for trisomic child and parent with normal gametes. Observations on measurements of maximal old palmar angle are discussed.I would like to express my thanks to Mrs Sheila Maynard Smith who has kindly calculated independently all the formulae used in this paper. I am particularly indebted to her for drawing my attention to the proportions of the different types of chromosome pairs in aberrant gametes from heterozygotes when there is 50 % recombination. The frequencies of the types AA, Aa, aA and aa are in the ratio 1:2:2:1 and not in the apparently more likely ratio 1:1:1:1. This peculiarity had been pointed out by Prof. J. B. S. Haldane in the discussion of the formal consequences of parthenogenesis.
A small autosomal ring chromosome in a female infant with congenital malformations
Authors: LUCAS MARY , KEMP N. H. , ELLIS J. R. , MARSHALL RUTH 
Published: September 2007

SUMMARYA mentally retarded child with congenital malformations is described in whom a high proportion of cells contained a small ring chromosome derived from a no. 18 (Denver classification). The variability in the morphological appearance of the ring chromosome is illustrated and its stability is discussed in relation to other instances of ring chromosomes in both man and other organisms.The writers wish to thank Dr Margaret D. Baber and Dr Ursula James for their co‐operation during this investigation, Mr A. J. Lee for preparing the figures and Miss Penelope M. Carr, Miss Linda Z. Gorman and Miss Barbara J. Warland for technical assistance.Research grants from the British Empire Cancer Campaign (N.H.K.), from St George's Hospital (M.K.L.) and from the United States Public Health Service (RG‐6984) (J.R.E. and R.M.) made this study possible.
Parental origin of the sex chromosomes in the XO and XXY karyotypes in man
Authors: FRASER G. R. 
Published: September 2007

SummaryMaximum likelihood methods are described whereby studies of segregation at sex‐linked loci may be used to determine the sex chromosome contribution of the parents to individuals of the XO and XX Y karyotype. With the use of the colour blindness, Xg blood group and G­6­PD deficiency loci, it is to be hoped that such data will quickly accumulate.I should like to thank Prof. A. G. Motulsky for suggesting this problem and both him and Prof. B. M. Bennett for many helpful discussions. I am most grateful to the referee for useful comments.
Taste sensitivity and endemic goitre in Israel
Authors: BRAND N. 
Published: September 2007

SummaryTaste thresholds for phenylthiourea were measured in 962 Israeli children and adolescents. The incidence of non‐toxic nodular goitre (endemic goitre) among these subjects was investigated. A large difference of non­tasters frequency was found between goitrous and non‐goitrous subjects, i.e. 20·;8 and 4·7%, respectively. It has been concluded that non‐tasters may be somewhat more susceptible to the development of nodular goitre than tasters. The frequency of non‐tasters among the whole sample is 9·5%, which is as low as in Mongoloid groups, i.e. 10·6% for Chinese and 7·1% for Japanese.
Nail‐patella syndrome in an Indian family: clinical and linkage data
Authors: SHARMA J. C. 
Published: September 2007

SummaryOf 11 persons found to have the nail‐patella syndrome in an Indian family, two show malposition of teeth of a marked but unspecific nature. It will be difficult to determine whether this feature is one more effect of the nail‐patella allele. The linkage estimate for the nail‐patella and ABO loci (1 recombinant in 16 meiotic products) is consistent with estimates in families of European origin.The author is grateful to the members in the pedigree who so willingly offered themselves for the investigation. Thanks are also due to Mi D. Roy Choudhry, Deputy Keeper (Anthropology), National Museum, New Delhi, for his help during the study.
Further studies on the genetics of placental alkaline phosphatase
Authors: ROBSON ELIZABETH B. , HARRIS HARRY 
Published: September 2007

Summary1. Six common and nine rare electrophoretically distinct phenotypes of human placental alkaline phosphatase are described.2. Their incidence has been determined in nearly 600 placentae derived from single births in an ‘ English’ population, and in placentae from more than 500 twin births. Smaller numbers from Negro and Indian populations have also been studied.3. Strong evidence supporting the hypothesis that these phenotypes are determined by three common and six rare alleles at an autosomal locus is provided by:(a) The characteristics of the electrophoretic patterns observed in the different phenotypes.(b) The agreement of the observed numbers of the various phenotypes in the different populations studied with the numbers expected, assuming a Hardy‐Weinberg equilibrium.(c) Detailed sib‐pair analysis of the phenotypes in the pairs of placentae obtained from more than 400 dizygotic twins. These data also show that the placental phenotype is determined by the genotype of the foetus.4. The results on the Negro population indicate that the gene frequencies are very different from those in the ‘English’ population.5. The effect of neuraminidase on the electrophoretic mobility of placental alkaline phosphatase suggests that there may be eight available sialic acid residues per enzyme molecule. This appears to be the same for all the common phenotypes.6. A model for the structure of placental alkaline phosphatase is suggested which will account for the triple‐banded pattern characteristic of heterozygotes and also for the relative intensities of the three bands seen in different heterozygotes.
Inherited quantitative variations of human phosphogluconate dehydrogenase
Authors: PARR C. W. , PITCH LINDA I. 
Published: September 2007

SummaryTwo families with erythrocyte phosphogluconate dehydrogenase (PGD) deficiency were studied.In one family the deficiency was partial, and affected individuals had about half the usual levels of enzyme in both red and white cells. The deficiency appeared to be determined by a structural gene PGDO, allelic with other PGD genes known to determine electrophoretic character. The evidence suggests that, if indeed the PGDO allele does give rise to the formation of a subunit, this subunit is incapable of combining with other subunits to produce the dimeric PGD enzyme.
Pep A5–1 and Pep A6–1: two new variants of peptidase A with features of special interest
Authors: LEWIS W. H. P. , CORNEY G. , HARRIS HARRY 
Published: September 2007

Summary1. Two rare peptidase A phenotypes, Pep A 5–1 and Pep A 6–1, have been found in the course of population surveys of red cell peptidases.2. Family studies indicate that they occur in heterozygotes. The two rare alleles have been designated Pep A5 and Pep A6. The genotype of Pep A 5–1 may be written Pep A1Pep A5 and that of Pep A 6–1 individuals Pep A1Pep A6.3. The Pep A 5–1 electrophoretic pattern changes in a characteristic manner on storage of the haemolysate. It is suggested that the changes are due to reaction with oxidized glutathione which accumulates in haemolysates on storage.4. Arguments are presented which suggest that the Pep A6 allele codes for a variant poly‐peptide chain in which a cysteine residue has been substituted for a particular arginine residue in the polypeptide chain coded for by the common allele Pep A1. Also that the Pep A6 allele codes for a variant polypeptide chain in which a glutamic acid residue is substituted for a particular lysine residue.
Taste thresholds for phenylthiocarbamide of some population groups: IV. The thresholds of some Australian aboriginal and South Korean subjects
Authors: LUGG J. W. H. 
Published: September 2007

Summary1. Thresholds of taste for phenylthiocarbamide (p.t.c.) of fifty Australian aboriginal subjects of the Western Desert group, and of two samples each of fifty South Korean subjects, have been estimated.2. The thresholds of subjects in all three samples were found to extend over a wide range of values, a few subjects in each possessing extremely high acuities of taste for this substance.3. The frequency distributions of threshold values were found to have much in common among themselves and also with those obtained earlier with Ainu and Japanese subjects.4. The new data provide support for the view that the overall distribution cannot readily be interpreted in terms of the classical hypothesis.5. The data are in reasonable harmony with the view that, in racial origin, the Australian aborigines may have had something in common with the Ainu, but they afford little support for the view that the Australian aborigines (any more than the Ainu) might, appropriately, be classed as essentially ‘proto‐Caucasoid’.