bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mongolism and Turner's syndrome in the same sibship
Authors: JOHNSTON A. W. , PETRAKIS J. K. 
Published: September 2007

SummaryA family was discovered during a survey of the sibs of patients with Down's syndrome using the buccal smear technique which contained two normal boys and a chromatin‐negative girl. This child showed the clinical features of Turner's syndrome and chromosome analysis revealed forty‐five chromosomes with an XO sex chromosome constitution. The boy with Down's syndrome was found to have forty‐seven chromosomes with a triplo­21 pattern. The significance of two aneuploid patients in the same family is discussed, particularly in the light of comparable families in the literature. It is concluded that in certain families there is an inherited predisposition to non­disjunction, probably due to an abnormal gene.This family study formed part of a thesis by A. W. Johnston for the degree of Doctor of Medicine in the University of Cambridge.Dr F. H. Allen of Boston carried out the blood grouping, Dr J. W. Shaffer the psychological testing, Prof. L. S. Penrose and Dr Sarah B. Holt the dermatoglyphics. Drs V. A. McKusick and M. A. Ferguson­Smith encouraged and advised, while Mrs Y. Hajda ably assisted on the technical side.
Data for X‐mapping calculations, Israeli families tested for Xg, g‐6‐pd and for colour vision
Authors: ADAM A. , SHEBA C. , SANGER RUTH , RACE R. R. , TIPPETT PATRICIA , HAMPER JEAN , GAVIN JUNE , FINNEY D. J. 
Published: September 2007

SUMMARYThe results are recorded of tests for the X‐linked red cell antigen Xga on families with glucose‐6‐phosphate dehydrogenase deficient members. The families live in Israel and belong to Kurdish, Iraqi, Yemenite, Sefardic and Ashkenazy Communities.Linkage between Xg and g‐6‐pd is established at the 1 in 100 level of probability, and an estimate of the recombination frequency is 0–273 + 0–072.Some of the families also have colour vision abnormalities but the information is not enough to allow an estimate of the recombination fraction between Xg and c.v. to be made. However, the results strongly suggest that the locus for c.v. is further away from Xg than is g‐6‐pd: consequently the probable order on the X chromosome of these three loci is Xg … g‐6‐pd … c.v.We wish to express our gratitude to all the doctors who collaborated with us by providing some of their material. Special thanks are due to Mrs Judith Offer (Hakfar Hayarok), Dr Rina Schmidt and Dr G. Kende (Government Hospital, Tel‐Hashomer, Israel) for their great part in collecting the samples of blood; and to Prof. E. Auerbach and Dr Edith Nelken, of the Vision Research Laboratory, Hadassah Medical School, Jerusalem, who made detailed colour vision tests in one of our families.We are greatly indebted to Dr J. D. Mann of the Butterworth Hospital, Grand Rapids, and to Dr Amos Cahan of Knickerbocker Biologicals, New York, for generous supplies of the most precious anti‐Xga plasma. The work has been supported in part by Grant A‐2740‐Hema. from the U.S. Public Health Service, and R/00014 from the World Health Organization.
Haemoglobin types in Greek populations
Authors: BARNICOT N. A. , ALLISON A. C. , BLUMBERG B. S. , DELIYANNIS G. , KRIMBAS C. , BALLAS A. 
Published: September 2007

SUMMARY

The incidence of abnormal haemoglobin genes has been investigated in various populations living in the Greek mainland, Crete and Rhodes.
A previous report of high sickling frequencies in the Chalkidhiki peninsula was confirmed, and the incidence of thalassaemia was found to be low in this region. Relatively low sickling frequencies were recorded in Atalanti in Central Greece and Karditsa in Thessaly, and no sickling was present in samples from Crete and Rhodes.
High β‐thalassaemia frequencies (above 20%) were found in villages in the island of Rhodes, and moderate frequencies (4–7‐9‐8%) in Crete and the Greek mainland towns sampled.
The low incidence of haemoglobin H inclusion bodies observed confirms previous findings that detectable α‐thalassaemia is much less common than β‐thalassaemia in Greece.
In regions where the sickle‐cell gene frequency is high the frequency of thalassaemia is low, and vice versa.
High frequencies of abnormal haemoglobins are found only in regions that were formerly intensely malarious.

We are indebted to many Greek physicians for friendly co‐operation and helpful discussion, in particular Dr Limberis, Prof. K. B. Choremis and Dr Ph. Fessas, Athens, and Dr G. Kypriotis, Rhodes. Dr A. U. Smith and Mrs N. A. Barnicot gave valuable help with the haematological investigations. We are also indebted to Prof. L. S. Penrose, Dr E. R. Huehns, Mrs Maynard Smith and Mr Norman Dance for their help.The work was supported by the Section on Geographic Medicine and Genetics, National Institute of Arthritis and Metabolic Diseases, Bethesda, Maryland.
Familial spastic paraplegia with amyotrophy of the hands
Authors: SILVER J. R. 
Published: September 2007

SummaryTwo unrelated British families suffering from a distinctive form of familial spmtic paraplegia associated with wasting of the hands are described.I wish to record my gratitude for the encouragement and advice that I received from Dr Michael Kremer, under whose care the patients were admitted and investigated.I would like to thank Prof. Lionel Penrose, who throughout the investigation helped and advised me on the genetic aspects of the work.I wish also to thank Mr Ainslie and Mr Goldsmith for referring the propositus Mr A.; Mr Northfield and Lord Brain for allowing me to quote from their original notes on Mrs R. when she attended the London Hospital; Miss Ruth Marshall for carrying out the blood‐group studies; Dr Julia Bell and Dr A. Carmichael for discussing these families with me; Mr Frank Beck for translating the German papers quoted, and Dr Russell Doggart for his advice and criticism.
Rare phosphoglucomutase phenotypes
Authors: HOPKINSON D. A. , HARRIS HARRY 
Published: September 2007

Summary1. PGM phenotypes have been determined by starch‐gel electrophoresis in more than 2000 unrelated ‘ English’ people and several smaller samples from other populations.2. Besides the three common phenotypes (PGM 1, 2–1 and 2), eleven rare phenotypes have been identified, and their genetical basis investigated.3. Nine of the new phenotypes, PGM 3–1, 3–2, 4–1, 4–2, 5–2, 6–1, 6–2, 7–1 and 7–2, appear to represent heterozygous combinations of one or another of a series of rare alleles, PGM31, PGM41, PGM51, PGM61 and PGM71, with either PGM11 or PGM21. Each of these alleles probably determines the formation of two new isoenzyme components which are homologous with components a and c determined by PGM11 and components b and d determined by PGM21.4. The ‘Atkinson’ and ‘Palmer’ phenotypes are thought to represent heterozygotes for alleles at a different locus, PGM2. The common allele at this locus is designated PGM12 and the postulated genotype for the ‘Atkinson’ phenotype is PGM12PGM22 and for the ‘Palmer’ pheno‐type is POM12PGM32. It is suggested that PGM12 determines isoenzyme components e, f and g and that PGM22 and PGM32 each determine three isoenzyme components which are electrophoretically different from but homologous with e, f and g.5. The ‘Atkinson’ phenotype appears to have an appreciable incidence in Negro populations and has so far not been observed in any non‐Negro group.
Linkage scores and corrections in simple two‐ and three‐generation families
Authors: SMITH CEDRIC A. B. 
Published: September 2007

SummaryThe theory of the method of z‐scores and corrections is discussed. The reasons for their use are explained, and their theoretical justification. Formulae are given for the cases of X‐linked genes and double backcross autosomal matings. New tables of the scores are also provided.
Heritability of liability and concordance in monozygous twins
Authors: SMITH CHARLES 
Published: September 2007

SUMMARYResults from heritability of liability model of Falconer (1965) have been revised, eliminating two sources of bias. The results have been graphed for convenient usage, and in the absence of environmental similarities among relatives can apply to all kind of relatives. Confidence levels for the heritability (or correlation) estimates can also be read directly off the graph.The results also apply to concordance rates in MZ twins. They show that, in the absence of environmental similarities, concordance rates for a disease in MZ twins will only be high if the heritability is very high. Thus a low concordance rate in MZ twins cannot be taken to prove that genetic factors are not important in the predisposition to a disease.
Molecular size estimates of the human phosphoglucomutase isozymes by gel filtration chromatography
Authors: McALPINE PHYLLIS J. , HOPKINSON D. A. , HARRIS HARRY 
Published: September 2007

SUMMARY1. Molecular sizes of the three sets of the human phosphoglucomutase isozymes attributable to the loci PGM1, PGM2 and PGM3 have been studied by gel nitration.2. The PGM2 isozymes (M.W. C. 61,000) appear to be significantly larger than the PGM1 and PGM3 isozymes and the PGM3 isozymes (M.W. C. 53,000) appear to be slightly larger than the PGM1 isozymes (M.W. C. 51,000).3. No inter‐allelic or intra‐allelic differences in molecular size were detected.4. The estimated molecular size for rabbit muscle PGM by the same method is similar to that obtained for the human PGM1 isozymes. This is somewhat lower than previously reported estimates obtained by ultra centrifugation.
Analysis of population structure
Authors: MARUYAMA TAKEO 
Published: September 2007

SUMMARYStepping stone model of population structure was analysed in one‐dimensional eases of finite length, with special reference to variance and correlation of gene frequencies between colonies. Two types of migration patterns at boundarjr colony were treated. Explicit formulas for the variance and the correlation were obtained. In order to check the validity of the analytical results, several Monte Carlo experiments were performed by computer. Some extensions of the analyses were also given.
Fluorescent evidence for spermatocytes with two Y chromosomes in an XYY male
Authors: HULTÉN MAJ , PEARSON P. L. 
Published: September 2007

SUMMARYA quinacrine fluorescent technique has been used to identify the presence and frequency of Y chromosomes at different stages of spermatogenesis in &n XYY male. Forty‐five per cent of primary spermatocytes contained two Y chromosomes associated as a YY bivalent, and the patient exhibited an increased frequency of YY bearing spermatozoa as compared to three control males.
The incidence of triplets and higher multiple births in some rural and urban populations in Western Nigeria
Authors: NYLANDER P. P. S. 
Published: September 2007

SUMMARYIn a study of triplets and higher multiple births in Western Nigeria, the incidence of triplets was found to be approximately 1–6 per 1000 maternities. The expected incidence calculated by Hellin's ‘law’ was higher than the observed incidence. The twinning and triplet rates in Western Nigeria were found to be approximately 4 and 16 (i.e. 42) times the corresponding rates in U.K. and U.S.A. Using data on sex the method described by Allen (1960) indicated that there was a relatively higher proportion of trizygotic triplets in the Nigerian population.
INBREEDING WITH SELECTION and LINKAGE
Authors: REEVE E. C. R. 
Published: September 2007

SUMMARYGeneral formulae are given for calculating the rate of progress towards fixation, and the equilibrium frequencies, at a locus (A, B) under selfing, when different selection intensities act against the two alternative homozygotes, and the selection intensities acting within and between lines are also different.It is shown that selection between lines is much more powerful than selection within lines in slowing down progress or preventing fixation.Formulae are given for calculating the rate of progress towards fixation of a pair of alleles (a, b) which are not directly affected by selection but are linked to the pair (A, B) subject to within line ami between line selection against homozygosis. The effects of different selection intensities are examined. Very strong selection, sufficient to keep most of the population heterozygous for A/B, leads to a loss of heterozygosity at the (a, b) locus of 2y(l–y) per generation, where y is the recombination frequency. With selection just preventing fixation at the {A, B) locus, the rate of loss of (a/6) heterozygotes is at first more rapid, but approaches asymptotically the rate of 2y(l–y). Selection acting only within lines has a much milder effect on the rate of progress at the (a, b) locus.The effects on inbreeding progress of linkage of the {a, b) locus, not itself under selection, to one and to two pairs of lethals, are compared (Table 8). It appears that severe selection against homozygosis at a few points on a chromosome could reduce considerably the rate of progress towards fixation by inbreeding; and it is suggested that, as inbreeding progresses, the severity of this type of selection, and the number of loci at which it acts, will generally increase, so that the average progress towards fixation will fall more and more behind that expected on the classical theory, as the coefficient of inbreeding increases.
‘Secondary’ isozymes derived from the three PGM loci
Authors: FISHER R. A. , HARRIS HARRY 
Published: September 2007

SUMMARY1. The isozymes derived from the human phosphoglucomutases ‐ PGM1, PGM2, PGM3 have been examined in three tissues (lymphocytoid cells, placentae and red blood cells) in which the average age of the constituent proteins may be expected to differ. The appearance of one or more more negatively charged isozymes would appear to be correlated with increasing overall protein age. It is suggested that these are ‘secondry’ isozymes formed in vivo from the least negatively chared form which presumed to be the primary post translational product of the particular gene.2. Changes in the PGM3, isozyme pattern have been observed on storage of the placental extracts. Both the primary and the secondary in vivo isozymes were similarly affected. The storage effects observed are possibly due to reaction with red cell oxidized glutathione contaminating the extract. They may lead to confusion in typing unless controlled. Similar changes were not observed with the PGM1, and PGM2, isozymes.3. The effects of a number of thiol reagents on the three PGMs have been examined and various changes in isozyme pattern have been produced artificially. Both the primary and the secondary in vivo isozymes derived from each allele were similarly affected by any particular treatment. PGM3, isozymes were more reactive with thiol reagents than PGM1, or PGM2, isozymes. These findings suggest that the primary and secondary isozymes derived from each of the three PGM loci each contain at least one reactive sulphydryl group. However, the in vivo changes by which secondary isozymes are generated do not appear to be due to such thiol effects.
Linkage studies on Peptidases A, B, C and D in man
Authors: COOK P. J. L. , POVEY SUSAN , ROBSON ELIZABETH B. 
Published: September 2007

SUMMARYLinkage data obtained from studies on families segregating for electrophoretic variants of red cell peptidases A, b, C, D, are presented in the form of lod scores and of recombinants and non‐recombinants. No significant linkages were found, but ‘hints’ of linkage between pep B and Gm, between Pep C and Rh, and between Pep D, Lu and Secretor are discusse. There appears to be no close linkage between the four peptidase loci A, B, C, and D.
Metameric ‘Color Rule’ matches of normal, colour deficient, cataractic, and aphakic observers
Authors: KALMUS H. 
Published: September 2007

SUMMARYMetameric matches on the ‘color rule’ under various kinds of illumination, principally of colour temperature 6500°K and 2400°k, were established for colour normal people of both sexes, various ages and ethnic origin. The matches shift in a way which is explicable by the yellow discoloration of the lens and possibly other optic media, with age and general pigmentation.Individuals defective in colour perception differ ‐ as a group ‐ from normal people not only in the position of the average match co‐ordinates, but mostly also in a wider tolerance of accepted matches. By combining average match with tolerance area a useful criterion can be shown to exist for discriminating between normal, protanomalous and deuteranomalous people and to a lesser extent between the two principal classes of dichromats. Similar distinctions can be derived by inspecting the orientation and position of tolerance areas, which for red‐green defects are diagonally oriented but in one tritan defective appeared horizontal.The versatility, cheapness and convenience of the ‘color rule’ for colour vision studies in the field is pointed out.
The amount of hereditary disease in human populations
Authors: TRIMBLE BENJAMIN K. , DOUGHTY JOHN H. 
Published: September 2007

SUMMARYThe frequencies of occurrence of various types of genetic disease have been derived for a number of successive annual birth cohorts from a well‐defined geographic region with a current population in excess of two million people. The results indicate that about 9·4 individuals out of every 100 liveborn will have serious genetic diseases or handicaps and that another 2·7 persons out of every 100 born alive suffer from disorders of unknown aetiology. However, the incidence of simple, dominant conditions is probably very close to 8 in every 10,000 liveborn, or about 12 times lower than previously believed. Accordingly, estimates of the risk to human health from these diseases, due to an artificially induced increase in mutation rate in man, may be some 12 times too high.
The genetics of the Lp Antigen
Authors: SING C. F. , SCHULTZ JANE S. , SHREFFLER D. C. 
Published: September 2007

SUMMARYSeveral genetic models were considered to explain the distribution of qualitatively positive and negative children in 204 Caucasian families. A model which best describes the inheritance of the Lp antigenic expression involves a major genetic locus which distinguishes two overlapping continuously distributed modes of quantitative activity.
An interpretation of human diaphorase isozymes in terms of three gene loci DIA1, DIA2 and DIA3
Authors: FISHER R. A. , EDWARDS Y. H. , PUTT W. , POTTER J. , HOPKINSON D. A. 
Published: September 2007

SUMMARYNADH and NADPH diaphorase isozymes have been studied in human tissues. Evidence from rare heterozygotes suggests that the red cell and main tissue forms of NADH diaphorase are products of the same locus DIA1 NADPH‐dependent diaphorase appears to be the product of a second locus DIA2 A third locus, DIA3 codes for the polymorphic sperm diaphorase. The products of this locus are also found in foetal tissues including placenta and adult brain and gonads. The products of these three loci may be distinguished by their substrate specificity, thermostability and molecular size.
The linkage relationships of the haemoglobin beta, delta and alpha loci with 34 genetic marker systems
Authors: WEITKAMP L. R. , STAMATOYANNOPOULOS G. , ROWLEY P. T. , KIRK R. L. 
Published: September 2007

SUMMARYAn analysis of the linkage relationships of the Hbα, and Hbβ, loci with 34 genetic marker systems is presented. No evidence of linkage of either haemoglobin locus with any of the marker loci was found. The Hbα, locus may be excluded from approximately 7% and the Hbβ, locus from approximately one‐third of the autosomal genome.
Search of heterozygosis in quantitative characters
Authors: Smith Cedric A. B. , Loesch Danuta Z. , Bener Abdülabari 
Published: September 2007

SummaryA method is described of searching for heterozygotes in a quantitative character, based on the idea that heterozygotes have more variable children than homozygotes. The variability in a set of sibs is therefore partitioned into components from the mother and father, using a least squares technique; a large component indicates a probably heterozygous parent. The method is tried out on dermatoglyphic data.
Down syndrome, paternal age, maternal age and birth order
Authors: ERICKSON J. DAVID 
Published: September 2007

SUMMARYRecent cytogenetic evidence has shown that trisomy 21 can arise, perhaps even in substantial proportion, from paternal nondisjunction. The statistical association between Down syndrome incidence and maternal age, paternal age and birth order has been studied in a sample of over 4000 cases. The size of this sample made it possible to control for the effect of maternal age by single years of age during the search for a paternal age effect and vice versa, and the importance of such stringent control is emphasized.The maternal age association was confirmed with an extremely high degree of statistical significance while no independent effect of paternal age was found; indeed, the rates at paternal ages over 45 years appear to be nearly constant. After adjusting for the effects of parental age, a significant inverse association of birth order with incidence was noted. It also appears that the incidence among very young mothers may be high: for maternal ages 15 years and less the rates seem to be equivalent to those found at 30 or 35 years. In order to help answer the question of whether the maternal age association is the result of increasing rates of nondisjunction or of some other mechanism (for example, an age related defect in a spontaneous abortion screening mechanism), the proportion of cases due to maternal and paternal nondisjunction at different parental ages must be determined.
The origin of human triploidy: an integration of qualitative and quantitative evidence
Authors: BEATTY R. A. 
Published: September 2007

SUMMARY1. The origins of human triploidy are inferred from marker chromosomes by use of maximum‐ likelihood models applicable to all mammals with a simple XX: X Y sex determination mechanism. The numerical data comprise a compilation from the literature of 323 triploids and two 2N/3N mosaics, nearly all spontaneously aborted.2. In the particular data, at the time of conception, it is estimated that digynic triploidy (two sets of maternal chromosomes) is less common than diandric (two paternal sets), and that dispermy (fertilization by two spermatozoa) exists and is commoner than diplospermy (fertilization by a diploid spermatozoon) as a cause of diandry: the best estimate of the diplospermic contribution is zero. A low viability of XYY conceptuses has been detected and measured, and is an essential factor in all interpretations: one consequence is that ˜ 15 % digynic triploidy at conception would change to ˜ 19 % at the time of scoring conceptuses. The viabilities of XXX and XXY are comparable with one another.3. Inferences about the general population of triploids at conception are based on approximate confidence limits for the estimates. Digyny probably accounts for at most ˜ 41 % of all triploidy (perhaps as little as ˜ 7%). Diandric triploidy forms a major class (˜ 59‐˜ 93%) attributable at least in part to dispermy. The best estimate of diplospermic triploidy is zero, but it could account for up to ˜ 20 % of all triploids and up to ˜ 31 % of all diandric triploids. The low viability of XYY triploids remains marked as a population characteristic.4. Certain items of indicative ‘ancillary evidence’ are used minimally, primarily as independent checks of the analytical results. They are: (a) that XYY have a low viability, (b) XXX and XXY have a comparable viability, (c) diplospermy plays little or no part in the genesis of triploidy, (d) some triploids are dispermic, (e) F‐body studies can estimate the relative numbers of XX, XY and YY diploid spermatozoa, (a), (b) and (d) are predicted correctly when (c) is used to guide analysis: (a), (c) and (d) when (b) and (e) are so used. This gives some confidence in the validity of the analyses, and in the reality of phenomena established from both qualitative and quantitative evidence.5. The bulk of human triploidy probably arises near the time of fertilization.