bluuebunny/crossref_metadata_2025_split huggingface dataset:
Inheritance of marker chromosomes from a cytogenetic survey of congenital heart disease
Authors: MOORES ELIZABETH C. , ANDERS JANET M. , EMANUEL RICHARD 
Published: September 2007

SummaryThe inheritance of marker chromosomes was investigated in six families found during a survey of 250 cases of congenital heart disease. Distinctive morphological variation was seen in chromosomes 9, 16, 17 and members of the 13–15 group. It was thought that the variation occurred at sites of secondary constrictions and was due to inherited alteration in behaviour of these hetero‐chromatic regions. In each family the marker chromosome was observed in two or more generations and was present in clinically normal relatives. They were similar to variants reported in the general population and were considered to be unrelated to congenital heart disease.
The XY bivalent in human male meiosis
Authors: HULTÉN MAJ , LINDSTEN J. , MING PEN‐MING L. , FRACCARO M. 
Published: September 2007

SummaryThe X Y bivalent could eady be recognized in diakinesis and first metaphase in air‐dried preparations. The X and Y were clearly separated in varying proportions of these cells but probably more often in cells in the later stages. No chiasma could be demonstrated with certainty between X and Y. The Y chromosome had in some cells a clear constriction at its distal end which might indicate the centromere, and it was often bent in a characteristic way. The X chromosome was also typically bent in some cells, and sometimes demonstrated one less contracted part close to the Y and one contracted and irregularly curved distal part. It is tentatively suggested that the long arm of Y is associated with the short arm of X. The point is stressed that the problem of the existence of homologous sections of the X and Y chromosomes in man cannot be solved by present cytological observations in the absence of genetical evidence.
Human meiosis: the occurrence of interlocked bivalents in a normal male
Authors: Mcdermott A. 
Published: September 2007

SummaryThe mitotic and meiotic chromosomes of a healthy 65‐year‐old man, ascertained from a survey of surgically removed testes, were investigated. A method for preparation of meiotic chromosomes from testicular material is described.A pair of interlocked bivalents was observed in 9 of the 54 diakinesislearly metaphase I cells examined. This was considered an abnormally high frequency to be explained as the result of a chance event. It is suggested that the chromosomes concerned are derived from those numbered 1–3 and 13–18 in the Denver system.
The linkage relation of Xg to g‐6‐pd in Israelis: the evidence of a second series of families
Authors: ADAM A. , TIPPETT PATRICIA , GAVIN JUNE , NOADES JEAN , SANGER RUTH , RACE R. R. 
Published: September 2007

SummaryThe loci for Xg and for glucose‐6‐phosphate dehydrogenase are not within direct measurable distance of each other. Analysis of two‐generation data for a previous series of Israeli families strongly suggested that linkage was measurable, but massive three‐generation data from Sardinia contradicted this and stimulated the collection of a second series in Israel, this time confined mostly to three‐generation families. The two Israeli series combined now agree with the Sardinian series in showing no evidence of direct measurable linkage.
Sex‐linked genes in man and the Lyon hypothesis
Authors: GRÜNEBERG HANS 
Published: September 2007

SummaryOut of a total of 60 sex‐linked or probably sex‐linked genes in man, 34 have no known effects in the heterozygous condition, and in another 4 the known effects are of a humoral kind and hence cannot give any information concerning the Lyon hypothesis (l.h.). Of the remainder, 17 genes have known or suspected effects in heterozygous women which are multicellular in nature; though these could, in principle, give rise to the patchwork mosaic manifestation demanded by the l.h., there is not a single really plausible case amongst them and none which can be so interpreted without various ad hoc assumptions. The claim that the heterozygous phenotype of several of these conditions supports the l.h. can thus be shown to be without foundation. In the remaining five conditions, effects on the cellular level have been identified. In one of them (Xg), there is no evidence for the existence of two red cell populations in heterozygous women. Evidence for the existence of two distinct cell populations comes mainly from G‐6‐PD deficiency and, in a less complete form, from agammaglobulinaemia and Hurler's syndrome. In the first of these, the ‘ mosaic’ is so fine grained as to be difficult to reconcile with the l.h., which postulates inactivation early in embryonic life. Moreover, there is evidence that this phenomenon is not confined to sex‐linked genes, but occurs similarly in autosomal conditions. It is concluded that the behaviour of sex‐linked genes in man (like that in other mammals) gives no support to the Lyon hypothesis.
A statistical study of intrauterine selection factors related to the ABO system
Authors: PERITZ ERIC 
Published: September 2007

SummaryAn analysis of ABO blood‐type data on 3817 live births and their parents yielded the following main findings.

A deficiency of type‐A heterozygotes in the offspring. (This might be due to errors in typing.)
An excess of type‐B heterozygotes in compatible matings.
The incompatibility effect between type‐B offspring and type‐O mothers.

I wish to express my deep gratitude to Profs. Y. Yerushalmy and C. Stern for their constant help and advice. Thanks are also due to Profs. S. Nissen‐Meyer, E. R. Dempster and D. Black‐well for their kind encouragement and to Miss L. Milkovitch, Miss s. C. Stevens and Mr W. Quinn for their assistance in obtaining the data and preparing the tabulations.
Haemoglobin Bart's hydrops foetalis in Thailand*
Authors: POOTRAKUL S. , WASI P. , NA‐NAKORN S. 
Published: September 2007

SummaryHaemoglobin Bart's hydrops foetalis is prevalent in Thailand. A total of fifteen such cases were investigated. The parents were mostly Thais and Chinese. The gestation periods varied between 7 and 10 months. Thirteen were dead in utero and the other two died within 15 min. of delivery. Ten were female and five were male. All were anaemic and oedematous with enlarged and friable placentae, and had massive hepatomegaly. The average values of haematological findings are: haemoglobin concentration, 6.77 g. %; red‐cell count, 2.93 millions/mm.3; packed red‐cell volume, 40.5%; mean corpuscular volume, 140.6 micra3; mean corpuscular haemoglobin, 24.8μμg.; mean corpuscular haemoglobin concentration, 18%. Blood smears showed hypochromia, microcytosis, macrocytosis, target cells, anisocytosis, poikilocytosis, and numerous nucleated red cells. Intraerythrocytic inclusion bodies were found in a few red cells in most cases. Sickling was positive in five out of eight cases. In every case haemoglobin Bart's comprised almost all of the haemoglobin, only trace amounts of haemoglobins A+F being present. A small amount of haemoglobin H was detectable by starch gel in three cases. Average alkali‐resistant haemoglobin was 42.3%.
DNA replication analysis of six 13–15/21 translocation families
Authors: MIKKELSEN MARGARETA 
Published: September 2007

SummaryAutoradiographic investigations of nine individuals from six different 13–15/21 translocation families revealed that in five of the families a 14/21 translocation occurred, while the translocation in one family was probably of 15/21 type. As the family with the 15/21 translocation was too small, it was impossible to compare the segregation rates in the two translocation types.
Microspectrophotometry in the study of red hair
Authors: NICHOLLS E. M. 
Published: September 2007

SummaryMicrospectrophotometry has been used to define red and brown hair pigments in man. Comparisons have been made between red pigments examined by this method and pigments which have been extracted by various means. There is some evidence that methods of extraction of pigments from hair may cause substantial alteration in character of the pigments. Comparisons have been made between microspectrophotometry and reflectance spectrophotometry and it is thought that the former is the more sensitive method for the study of hair pigments. Evidence has been obtained that red hair is a separate and definable phenotype and not part of a continuous distribution of colours including black and brown. The mosaicism which can occur in both red‐ and brown‐haired subjects has been studied and a genetic hypothesis relating to this mosaicism is discussed.
Patients with sex chromatin abnormality in two state hospitals
Authors: CASEY M. D. , SEGALL L. J. , BLANK C. E. 
Published: September 2007

SummaryThe incidence of sex‐chromatin subnormality in two special hospitals for subnormal patients requiring special security on account of violent and aggressive behaviour was found to be significantly higher than the incidence in other institutionalized populations of the mentally subnormal. It is suggested that two factors account for this raised incidence: the higher mean intelligence level in the special hospital population, and the high proportion of sex‐chromatin‐positive males in these hospitals with an additional Y chromosome.We thank Dr J. N. McDougall, Medical Superintendent of Moss Side Hospital, for permission to study the patients in his care and the Medical and Nursing Staffs of Rampton and Moss Side Hospitals for their full co‐operation. This investigation was supported in part by a grant from the National Spastics Society.
Some complications of the use of the three‐generation method in the estimation of linkage relationships on the X chromosome in man
Authors: FRASER G.R. 
Published: September 2007

SummaryThe direct method of estimating linkage values between loci on the X chromosome based on families containing three generations (grandfather, mother, grandsons) is simple and satisfactory. Because some potentially informative families cannot be scored, however, under certain conditions of ascertainment, the proportion of recombinants among the grandchildren does not give rise to an unbiased estimate of the linkage value. The nature and extent of these biases are defined and it is shown that they are, in general, small. A simple method for their correction is outlined.
General purpose probability models in histocompatibility testing
Authors: C. ELANDT‐JOHNSON REGINA 
Published: September 2007

SummaryGeneral probability models for finding the proportions of compatible and incompatible pairs donor‐recipient, in populations in equilibrium in respect of several histocompatibility loci, are derived. The cases when (i) all loci are only ‘strong’ or ‘weak’, (ii) some loci are ‘strong’, some ‘weak’, (iii) there are loci with ‘strong’ and ‘weak’ alleles at the same locus, (iv) combinations of (i), (ii) and (iii), are considered.Some of these cases are compared among themselves and with a single locus with multiple alleles, when only one gene dose, double gene dose or two different gene doses of antigen incompatibilities occur. A few models for populations of unrelated pairs, siblings and parent‐child combinations have been worked out numerically.
On the theory of selection dependent on two loci
Authors: MORAN P. A. P. 
Published: September 2007

Summary A, a are alleles at one locus. Considered on their own, other alleles being fixed, they display heterosis, so that there exist unique stable equilibrium values p, q for their respective gene frequencies. Let B, b be a second pair of heterotic genes at a second locus, with equilibrium frequencies P, &. Consider models in which the fitnesses are multiplicative (or additive), i.e. the fitness of, for example, AaBB is taken to be the product (or sum) of the fitnesses of Aa and BB considered singly. Assume random mating and separate generations, and the population sufficiently large for random fluctuations to be ignored. Then it is shown that if the recombination fraction between the loci does not differ too much from 1/2, and if all four alleles are originally present in the population, then the population does tend (as might be expected) to a stable equilibrium in which the gene frequencies of A, a, B, b are respectively p, q, P, Q. But this may not happen when linkage is close.
Radioautographic identification of the D chromosomes involved in the centric fusion type of D/G translocation, t(DqGq)
Authors: CAPOA A. DE , BREG W. R. , KUSHNICK T. , MILLER O. J. 
Published: September 2007

SummaryRadioautographic studies of five individuals with a D/G translocation have shown that in three of them the D‐group chromosome involved was a no. 14 and in two a no. 15.
Anencephalus: variation with maternal age, parity, social class and region in England, Scotland and Wales
Authors: FEDRICK JEAN 
Published: September 2007

SUMMARYThe analysis of 491 singleton anencephalic births compared with 16,994 control births has revealed several independent trends within the United Kingdom: (i) There is a strong regional distribution. (ii) There is a rise in incidence with falling social class. (iii) There is a maternal age/parity distribution, whereby the older the primipara the lower is the incidence, but the older the multipara, the higher the incidence.
Thermostability studies on the isozymes of human phosphoglucomutase
Authors: McALPINE P. J. , HOPKINSON D. A. , HARRIS HARRY 
Published: September 2007

SUMMARY1. A new method for investigating the heat‐stabilities of isozymes is described. Using this method it has been shown that the relative thermostabilities of the isozymes determined by the separate phosphoglucomutase (PGM) loci are PGM2 > PGM1 > PGM3. This conclusion has been confirmed by conventional heat‐stability experiments.2. No interallelic or intra allelic stability differences were detected between the isozymes determined by the two common alleles PGM12 and PGM21at the PGM1 locus, between PGM12 and PGM22at the second locus or between PGM13 and PGM23 at the third locus. The isozymes determined by a very rare allele (PGM41) appear to be relatively less stable than the isozymes determined by either PGM11or PGM21.3. Comparison of the PGM isozyme patterns in red cells and other tissues suggests that the in vitro differences in thermostabilities between the isozymes of the separate loci are a true reflexion of the in vivo stabilities of PGM.4. Promising results obtained with other enzymes suggest that the new method used in the heating experiments on PGM may be a useful general procedure for the investigation of other genetically determined differences in isozyme thermostability.
The investigation of reactive sulphydryls in enzymes and their variants by starch‐gel electrophoresis: studies on the human phosphohexose isomerase variant PHI 5‐1
Authors: HOPKINSON D. A. 
Published: September 2007

SUMMARYThe effects of six different thiol reagents on the electrophoretic behaviour of the isozymes of the human red cell PHI 5‐1 variant have been investigated. The results support the previous suggestion that the PHP allele codes for a polypeptide in which a reactive cysteine residue has been substituted for a particular neutral amino acid residue.
Short‐arm deletion, chromosome 4, (4p‐), a syndrome?
Authors: TAYLOR A. I. , CHALLACOMBE D. N. , HOWLETT R. M. 
Published: September 2007

SUMMARYTwo cases of new‐born infants with severe multiple congenital anomalies of the ‘mid‐line’ type and a 4p– deleted chromosome arc presented. Clinieal and other findings are compared with 8 published cases and with findings in Edwards' syndrome (18 trisomy), Patau's syndrome (13 trisomy) and cri du chat syndrome (5p–). The identification of the deleted chromosome by autoradiography and measurements is discussed.
Studies on the quantitative variation of human red cell peptidase A activity
Authors: SINHA K. P. , LEWIS W. H. P. , CORNEY G. , HARRIS HARRY 
Published: September 2007

SUMMARY1. A new method for the assay of peptidase A activity in human red cells and leucocytes is described.2. Wide variation in the level of red cell peptidase A activity between different individuals with the common electrophoretic phenotype Pep A1 has been demonstrated.3. Family studies show highly significant parent‐child and sib‐sib correlations, but no significant parent‐parent correlation. The findings indicate that the differences in level of activity between individuals are to a large extent genetically determined.4. Peptidase A activities in leucocytes show much less variation than in red cells. Only a small correlation, which was not statistically significant was found between red cell and leucocyte activity. In particular the levels of leucocyte peptidase A activity in individuals with very weak red cell activities were found to be very similar to those seen in individuals with strong red cell activity.5. Weak peptidase A activity in red cells was not found to be associated with weak activity of other red cell peptidases.6. No evidence for the differential occurrence of inhibitors or activators of peptidase A in red cells of individuals with different levels of activity was obtained in various experiments designed to test this possibility.7. The electrophoretic patterns seen in individuals heterozygous for certain rare alleles (Pep A5 and Pep A6) which determine electrophoretic variants of peptidase A suggest that two different alleles (provisionally called Pep A1S and Pep A1W) determining different forms of the enzyme with the usual electrophoretic mobility (Pep Al), but with different activities in red cells occur. Individuals presumed to be heterozygous for Pep A5 (or Pep A6) and for Pep A1S show a symmetrical triple‐banded electrophoretic pattern, which suggests that the activity attributable to Pep A5 or Pep A6 is about the same as that attributable to Pep A.1S. Individuals presumed to be heterozygous for the rare allele Pep A5 or Pep A6 and for Pep A1W show in red cells an asymmetrical electrophoretic pattern with a marked deficiency of activity attributable to Pep A1W. In leucocytes, however, they show a symmetrical electrophoretic pattern indistinguishable from the patterns observed in individuals with the same rare allele in heterozygous combination with the common allele Pep AS.8. It is suggested that the wide variation in activity seen in red cells of individuals with the common electrophoretic phenotype Pep A1, is at least in part attributable to alleles (Pep A1S and Pep A1W) occurring at the same locus as the alleles which determine previously described electrophoretic variants. However, it remains possible that allelic differences at other gene loci and producing their effects in different ways may also contribute to the genetically determined variation in activity.
The relative activities attributable to the three phosphoglucomutase loci (PGM1, PGM,2 PGM3) in human tissues
Authors: McALPINE PHYLLIS J. , HOPKINSON D. A. , HARRIS HARRY 
Published: September 2007

SUMMARY1. The isozymes attributable to the three phosphoglucomutase loci, PGM1;PGM2 and PGM3, have been separated by agarose‐acrylamide gel electrophoresis and their relative activities have been measured in a range of human tissues.2. In most tissues except red cells and fibroblasts, 85–95 % of the total PGM activity is determined by the PGM1 locus, 2–15 % is contributed by the PGM2 locus and 1–2 % is determined by the third locus PGM3.3. In fibroblasts the PGM3 isozymes are relatively much more active and account for nearly 7 % of the total PGM activity.4. In red cells approximately equal amounts of the PGM1 and PGM2 isozymes occur but no PGM3 isozymes are found.5. The atypical PGM isozyme pattern observed in red cells is probably a reflexion of in vivo stability differences between the three forms of PGM. In other tissues the PGM isozyme patterns are probably consequent upon differences in rates of synthesis or differences in the specific activities of the gene products.
Genetics of dermatoglyphic patterns on palms
Authors: LOESCH DANUTA 
Published: September 2007

SUMMARYGenetics of palmar dermatoglyphics have been investigated on the basis of a topological classification of dermal ridge patterns. A study was undertaken in a sample of 201 Polish families, comprising 187 pairs of parents and 666 children. Correlational analysis was performed using an IBM computer.The first step was to establish frequencies of dermatoglyphic characters in the sample and anatomical correlations between various patterns on palms and finger tips. Then, correlation coefficients between relatives were calculated for eighteen dermatoglyphic characters. Further genetical analysis of the data was performed, including estimates of heritability index (h2), dominance‐recessivity index (dr)2 and search for the possible influence of sex‐linked genes. The results obtained show that the dermatoglyphic characters on palms vary considerably with respect to the proportions of genetical and environmental components; some of them, like hypothenar H loop, interdigital loop II and triradius t and some quantitative characters, like pattern intensity, have high heritability indices, while the others, like hypothenar distal loop H, radial hypothenar loop Hr or z triradii, are almost entirely determined by environmental influences.It was further possible to examine the mode of inheritance of some of the pattern elements.It can be assumed, on a basis of results so far obtained, that some dermatoglyphic characters like loops Ĥ and II and presence of triradius t may be determined mainly by single genes those for the loops being in homozygous recessive form.
Infant mortality from spina bifida, congenital hydrocephalus, monstrosity, and congenital diseases of the cardiovascular system in England and Wales
Authors: ROGERS S. CLIFFORD , MORRIS MICHAEL 
Published: September 2007

SUMMARYThe epidemiology of congenital abnormalities is reviewed and the data available in the Registrar General's Annual Reviews for England and Wales from 1848 to 1967 are analysed statistically.The time and place of reported epidemics of spina bifida and anencephalus are tabulated.It is concluded that the pattern of epidemics of dysraphism in time and place is inconsistent with a viral aetiology, and it is suggested that a proportion of embryos may be genetically susceptible to an antimetabolite present in a food under certain conditions of preservation, preparation or storage.
Comparison of some properties of red cell peptidase A from weak and strong activity phenotypes
Authors: SINHA K. P. , LEWIS W. H. P. , HARRIS HARRY 
Published: September 2007

SUMMARYPartially purified preparations of red‐cell peptidase A obtained from individuals with very weak and relatively strong activities have been compared, in order to see whether qualitative differences between the enzymes attributable to different alleles could be identified. It was found that the enzymes obtained both from the weak‐ and strong‐activity phenotypes were very similar in their pH‐activity curves, Michaelis constants, and elution profiles from DEAE‐cellulose and CM‐Sephadex columns. In comparisons of thermostability no marked differences were observed, but there was a suggestion that the enzyme in the weak‐activity phenotype may be slightly more thermostable than the enzyme in the strong‐activity phenotype.