bluuebunny/crossref_metadata_2025_split huggingface dataset:
The detection and differentiation of the products of the human carbonic anhydrase loci, CAI and CAII using fluorogenic substrates
Authors: HOPKINSON D. A. , COPPOCK J. S. , MÜHLEMANN M. F. , EDWARDS Y. H. 
Published: September 2007

SUMMARY1. The carbonic anhydrase isozymes of human red cells have been investigated by starch‐gel electrophoresis using the fluorogenic substrates, 4‐methyl‐umbelliferyl acetate and fluorescein diacetate, for the detection of the CAI and CAII locus isozymes respectively.2. The previously described electrophoretic polymorphism at the CAII locus was easily distinguished using fluorescein diacetate as the stain, thus reducing the need for a specific anti CAII antiserum in future population and family tests.3. The variant allele CAII2 (previously designated CA II‐H) was found to occur with a frequency of 0·046 in a population sample of 196 Black Africans living in London. No electrophoretic variants of CAII were detected in a survey of 434 Europeans and 304 Asiatic Indians living in London.4. No electrophoretic variants of CAI were detected in the three population groups tested.
Electrophoretic polymorphism of glutathione peroxidase
Authors: BEUTLER ERNEST , WEST CAROL , BEUTLER BRUCE 
Published: September 2007

SUMMARYA method for the detection of glutathione peroxidase after electrophoresis on starch gel has been devised. Blood samples from 780 persons of Caucasian or Negro origin were studied. An electrophoretically fast enzyme, designated as the Thomas variant, was found in 6·4 % of 392 Negro donors and 0·8 % of 388 Caucasian donors. This variant was inherited in an autosomal dominant fashion. A slightly rapid electrophoretic mobility was noted in some cord blood samples and in a father and daughter with a refractory anaemia. Because this variant, designated ‘Musi’ differed so little from the normal variant, it was difficult to further characterize it, but it did not appear that this variant was genetically determined.Glutathione peroxidase from most other tissues had the same electrophoretic mobility as the enzyme from erythrocytes, but the enzyme from cultured human fibroblasts moves more rapidly. Various laboratory animals were found to have electrophoretically distinguishable glutathione peroxidase, but efforts to hybridize hamster enzyme to human enzyme were unsuccessful.
Further studies on erythrocyte inorganic pyrophosphatase: an examination of different mammalian species and human‐Chinese hamster hybrid cells
Authors: FISHER RACHEL A. , PUTT WENDY , HARRIS HARRY 
Published: September 2007

SUMMARYErythrocyte inorganic pyrophosphatase has been examined electrophoretically in 32 different species of mammals. The electrophoretic mobilities have been compared and secondary isozyme production has been seen to be notably more marked in certain species, particularly the higher primates.Special attention has been given to the enzyme in the mouse and Chinese hamster. In cultured cells, the mouse enzyme is indistinguishable from that of the human. The Chinese hamster enzyme moves more anodally than the human enzyme but its pattern is somewhat confused by other pyrophosphatases.A human‐hamster hybrid clone was examined. It was found to have a human erythrocyte inorganic pyrophosphatase complement. A single hybrid band intermediate between the human and hamster bands was seen. This was taken as further evidence that the enzyme is dimeric.
The genetics of placental alkaline phosphatase: a possible ‘null’ allele
Authors: DONALD LYNDA J. , ROBSON ELIZABETH B. 
Published: September 2007

SUMMARYData are presented on the placental alkaline phosphatase (Pl) phenotypes of 3655 placentae, including those from 1143 dizygotic twin pairs. Discrepancies are present between the observed numbers and those expected according to Hardy‐Weinberg equilibrium, homozygotes being apparently in excess. This statistical discrepancy can be reduced to insignificance by proposing that the Pl system contains a ‘null’ allele, Pl0, in addition to the 17 alleles for which there is electrophoretic evidence. The plausibility of this suggestion is examined in the light of what is known about ‘null’ alleles in other enzyme systems and in other species.
The red cell 6‐phosphogluconate dehydrogenase polymorphism in certain Southern African populations; with the first report of a new phenotype
Authors: JENKINS TREFOR , NURSE G. T. 
Published: September 2007

SUMMARY

Studies have been carried out on the 6‐phosphogluconate dehydrogenase polymorphism in over 3400 Southern Africans representing 34 distinct populations. The two commonest variant alleles, PGDCand PGDR, attain their highest known frequencies in the subcontinent.
It has been shown that while the very high frequency of PGDCfound by previous workers in the Xhosa does not extend to the other South African Negro populations, the Dama of South West Africa have a frequency of PGDRhigh enough to be polymorphic. It is suggested that certain other populations possessing the PGDRallele may have obtained it from the Dama via the slave trade from Angola.
A new electrophoretic variant of GPGD, has been found in a member of the Kuanyama division of the Ambo peoples of South West Africa and has been named 6PGD Oshakati and the allele determining its synthesis PGDS.
D/D translocations in newborn children
Authors: FRIEDRICH URSULA , NIELSEN JOHANNES 
Published: September 2007

SUMMARYA family study has been made of seven unselected probands with 13/14 translocations found among 5049 consecutive liveborn children at a Danish maternity hospital. All cases were 13/14 translocations and all were familial. No individuals with unbalanced chromosome constitution were found in the seven families, and there was no information which might indicate the presence of individuals with Down's syndrome among the relatives.The segregation rate of carriers to normals did not deviate from unity. The frequency of abortions, stillbirths and infant mortality among the carriers was not significantly higher than among non‐carriers.Fertility among male carriers was comparatively low compared with female carriers and male carriers with normal chromosomes, but the difference was not significant.There was no indication of any increased risk of mental or physical disorders in carriers compared with normals.
Statistical resolution of genetic heterogeneity in familial disease
Authors: SMITH CHARLES 
Published: September 2007

SummaryIf a disease can be split into two or more groups on any criterion (clinical, biochemical, physiological or statistical) then the grouping can be tested to establish if genetically independent forms of the disease have been identified. The data required are simply the frequencies of the two disease groups in relatives of probands for each of the disease groups. A systematic search for such distinct groups is proposed in searches for genetic heterogeneity in familial diseases.
Adenylate kinases in man: evidence for a third locus
Authors: WILSON D. E. , POVEY SUSAN , HARRIS HARRY 
Published: September 2007

SummaryThe tissue distribution of the adenylate kinase isozymes in man has been examined using various substrates. The isozymes attributable to the AK1 and AK2 loci were identified, and an additional set of isozymes probably attributable to a third locus was also found. This locus has been provisionally designated AK3.The AK3 isozymes show activity with either GTP + AMP or ITP + AMP but do not show activity with ATP + AMP. They also differ from the AK1 end AK2 isozymes in electrophoretic mobility and from the AK1 isozymes in being resistant to silver inhibition. They are similar in molecular size to the AK1 isozymes whereas the AK2 isozymes are apparently larger. The AK3 isozymes evidently correspond to the enzyme nucleosidetriphosphate‐adenylate kinase (2.7.4.10).
Racial variations in the incidence of congenital malformations
Authors: ERICKSON J. DAVID 
Published: September 2007

SummaryRacial variation in the incidence of several common congenital malformations has been studied in Atlanta, Georgia. The white‐to‐black incidence ratios were substantially different from unity for single defects, while approximate equality of rates was noted for multiple defects. Amongst the specific malformations for which familial data were available, affected first‐ and second‐degree relatives were found only in the families of probands with single defects. It is postulated that these findings may indicate a more prominent function of the environment in the genesis of multiple malformations than is the case for single defects, the occurrence of which may be more strongly affected by non‐sporadic genetic factors.
Human alcohol dehydrogenase ADH1, ADH2 and ADH3 loci in a mixed population of Bahia, Brazil
Authors: AZEVĚDO ELIANE S. , CHRISTINA MARIA , SILVA B. OLIMPIO DA , TAVARES‐NETO JOSÉ 
Published: September 2007

Summary1. The three structural gene loci of human alcohol dehydrogenase have been studied in liver, jejunum and lung from 300 newborns in a triracially mixed population of Bahia, Brazil.2. The frequency of the ADH23 allele was 0,1392, suggesting that the ADH23 allele is less frequent in Negroes.3. A new ADE2 variant was identified. The electrophoretic pattern was interpreted as due to a new allele which is provisionally called ADH2Bahfa.4. By electrophoretic classification the ‘atypical’ variant was found in 2.8% of the sample. A question is raised regarding the ancestral origin of the ‘atypical’ variant in the population. Because this variant is common in Japanese it may have reached the present day population of Bahia through their American Indian ancestors.5. Subjective estimation of the proportions of β chains by giving scores to the liver isozymes αα, αβ and βß showed a clear relationship between the fetal weight and the β chain activity.6. The proportion of β chains in the liver is significantly less when there is no enzyme activity in the lung, indicating some synchronous ‘turning on’ mechanism for alcohol dehydrogenase synthesis in both tissues.
Selection of biochemically variant clones of human lymphoid cells
Authors: CLEMENTS G. B. 
Published: September 2007

SummaryTwo established clones of human lymphoid cells, Raji and P3HR1, could be cloned in semi‐solid agarose‐containing medium at high efficiency. Several other human lymphoid cell lines examined cloned poorly if at all under these conditions. Variant clones of Raji and P3HRI resistant to 6‐thioguanine, and in the case of Raji also to either 8‐azaadenine or 5‐bromo‐2'‐deoxyuridine, were selected and characterized.
Bernstein's and gene‐counting methods in generalized ABO‐like systems
Authors: NAM JUN‐MO , CART JOHN J. 
Published: September 2007

SummaryAlthough the simple and adjusted Bernstein's methods are fully efficient for m = 2 and m = 3 (ABO system) respectively, their efficiency declines for larger values of m. For m 4, the adjusted or modified Bernstein's method with a single counting iteration leads to a nearly efficient estimator. A single degree of freedom chi‐square test of the Hardy‐Weinberg law for all m is derived. Some findings on the statistical efficiency of typing various numbers of antigens are given. All the results are illustrated in numerical examples.
Visual classification of banded human chromosomes:
Authors: LUNDSTEEN CLAES , GRANUM ERIK 
Published: September 2007

SUMMARYVisual classification and karyotyping of 897 integrated density profiles generated from straight and non‐overlapping chromosomes from 22 trypsin‐bandedmetaphases of average quality was carried out and evaluated. The results were compared with visual classification of photographic prints of the same 897 chromosomes. The experiments were carried out by one observer.About 5% errors were made in classification of isolated profiles; 0.5% errors were made in karyotyping profiles and about 3% errors were made in classification of isolated chromosome prints.The reason for the small error rate obtained by karyotyping profiles as compared to the error rate when classifying isolated profiles was assumed to be the use of a priori knowledge of the composition of (normal) metaphases and the possibility of making appropriate comparisons between the individual profiles within the metaphase.Comparison between classification of isolated prints and of profiles showed different error patterns on the basis of which it was assumed that prints constitute a better basis for visual classification than profiles.The results seemed to indicate two ways of improving computer classification of banded chromosomes: (1) information of value in the chromosomes (band pattern, shape etc.) should be extracted from the digitized chromosome image in a manner superior to the simple integration by which profiles are produced; (2) computer karyotyping should simulate the human method, thus taking advantage of a priori knowledge of the composition of the metaphases and being able to make appropriate comparisons between individual chromosomes.
Assignment of the DIA1 locus to chromosome 22
Authors: FISHER R. A. , POVEY S. , BOBROW M. , SOLOMON E. , BOYD Y. , CARRITT B. 
Published: September 2007

SUMMARYHuman/rodent hybrid cell cultures were examined for the presence of 1 and other marker enzymes. Many of these hybrids were also analysed for human chromosomes. Complete concordance was found only with chromosome 22.
On the orientation of the Rh: El1 linkage group
Authors: COOK P. J. L. , NOADES J. E. , NEWTON M. S. , MEY R. de 
Published: September 2007

SUMMARYA family which segregates simultaneously for PGD, elliptocytosis, Rh, aFUC and PGM1 contains a recombinant suggesting that the loci lie in this order.
The tissue distribution of hexosaminidase S and hexosaminidase C
Authors: BEUTLEE ERNEST , KUHL WANDA 
Published: September 2007

SUMMARYThe proportion of hex S to hex C in normal and Sandhoff's fibroblasts was determined to be between 1:1 and 1:2 by differential staining of hex S at pH 4.4 with 4‐methylumbelliferyl‐β‐N‐acetylgalactosaminide and of hex C at pH 7.0 with 4‐methylumbelliferyl‐β‐N‐acetylglucosaminide. Hex S and hex C were also semi‐quantitated in various normal tissues‐brain, liver, spleen, heart, kidney, intestine, placenta, skeletal muscle and fibroblasts. Hex C was most prominent in brain and, somewhat less so, in liver, skeletal muscle and fibroblasts. The greatest amount of hex S activity was found in fibroblast, but it was also observed in lesser amounts in liver, kidney, intestine and placenta.
Absence of triradius d on the palms of normal people
Authors: HOLT SARAH B. , SHARMA P. DASH 
Published: September 2007

SUMMARYAbsence of the digital triradius d is a very rare phenomenon, previously only reported in abnormal XXXXY males. During the past few years the anomaly has been found on the palms of three normal females, namely a young English woman and two sisters in the Nicobar Islands in the Indian Ocean. These cases are described and illustrations of the palmar dermatoglyphics presented.
Selection at a multiallelic locus: Feller's transformation
Authors: EDWARDS A. W. F. 
Published: September 2007

SUMMARYAn explanation of Feller's result enabling the contours of mean viability at a triallelic locus to be rendered circular is offered, and a proof given which does not involve the direct use of homogeneous coordinates. In a subsequent paper we propose to use the fact that the same transformation also maps the contours of equal average effect for each gene into circles to establish further results.
The correlation between estimates of familial frequencies
Authors: WILSON S. R. 
Published: September 2007

SUMMARYFor the determination of the mode of inheritance of a disease or disorder familial data is often used and is usually presented in frequency form. This data has usually been obtained from a single set of nuclear families and so the estimates of the frequencies in relatives of those affected are not independent of one another and this makes inference concerning the mode of inheritance difficult. The exact degree of the correlation between estimates is not easy to determine. In this paper expressions are derived for the asymptotic variances of estimates and for the covariances and correlations between the basic pairs of intrafamilial frequency estimates for families of a given structure, and the extension to families of different sizes and structures is outlined. It is shown that these correlations are not necessarily negligible and should be taken into consideration when testing hypotheses concerning the mode of inheritance.
Frequency of RFA colour polymorphisms of human acrocentric chromosomes in Caucasians: interrelationship with QFQ polymorphisms
Authors: VERMA RAM S. , DOSIK HARVEY , LUBS HERBERT A. 
Published: September 2007

SUMMARYOne hundred normal Caucasians were studied by sequential QFQ and RFA in order to estimate the type and frequency of variation. Colour variants were classified into 1 of 6 colours by RFA and intensity variations into 1 of 5 levels by QFQ. The interrelationship between QFQ and RFA variants was also examined. It was found that there was no consistent relationship between negative or brilliant QFQ variants and the various colours observed with RFA. RFA colour polymorphisms for chromosomes 13, 14, 15, 21 and 22 were 33.0, 38.0, 28.0, 50.0 and 24.5% while QFQ frequencies were 56.5, 10.0, 10.0, 15.5 and 10.0% respectively. RFA is especially useful in studying the inheritance of chromosome 21.
Human mitochondrial malic enzyme variants: properties of the different polymorphic forms
Authors: BURCHELL ANN , CROSBY ANGELA , COHEN PATRICIA T. WADE 
Published: September 2007

SUMMARY1. The human mitochondrial malic enzyme polymorphism was found to exist in the Scottish population with similar allele frequencies to those reported previously for Caucasian populations.2. The mitochondrial malic enzyme variants MEM1, MEM2‐1 and MEM2 which form the polymorphism have been separated from the cytoplasmic malic enzyme and partially purified by DEAE Sephadex chromatography.3. The properties of the three mitochondrial malic enzyme variants were examined. No differences were found between the variants in Km for NADP, Km for pyruvate, Mn2+ and Mg2+ activation, Ki for dicumarol, heat stability, pH or ionic strength optimum.
The deficiency of a lysosomal acid hydrolase in two clones derived from the human lymphoblastoid line F137 after mutagen treatment
Authors: GARDINER S. ELIZABETH , SWALLOW DALLAS M. , HARRIS HARRY , ARTHUR ELIZABETH , EVANS H. J. 
Published: September 2007

SUMMARYTwo clones (out of a total of 181 clones tested) derived from the human lymphoblastoid (lymphoid) line F137 after mutagen treatment were found to be deficient in a lysosomal acid hydrolase. The clone N32 derived from EMS‐treated F137 is deficient in N‐acetyl hexosaminidase A and B but contains normal levels of N‐acetyl hexosaminidase C and low levelsof an enzyme resembling N‐acetyl hexosaminidase S. Thus the enzyme deficiency in this clone appears to resemble the so‐called Sandhoff variant of Tay‐Sachs disease, a disease inherited as an autosomal recessive condition. The clone G3 derived from MNNG treated F137 is deficient in α‐galactosidase A. This clone resembles the situation in X‐linked Fabry's disease.Karyotype analysis of the clones failed to reveal any chromosome rearrangement or losses of chromosomal material that might have accounted for the mutations and it is suggested that a single point mutation might in each case account for the loss of enzyme activity.No storage of the natural substrates of the two enzymes could be demonstrated in the clones.
The frequency in Japanese of genetic variants of 22 proteins
Authors: UEDA N. , SATOH C. , TANIS R. J. , FERRELL R. E. , KISHIMOTO S. , NEEL J. V. , HAMILTON H. B. , BABA K. 
Published: September 2007

SUMMARYThis paper presents the results of a survey of Japanese for electrophoretic variants of CA I, CA II, LDH, MDH, TPI, NP, HB A and A2, the number of determinations per system ranging from 738 to 4029. Pour similar variants of CA I (designated CA IHIRI), one of LDH (designated LDHNGS1), one of MDH (designated MDH, 7HIR1), two of HB A (one a reascertainment of HB Hijiyama, the other not characterized), and one characterized by the absence of HB A, (δ‐thalassaemia) were observed and are described. The CA IHIR1, LDHNAG1 and MDHs, SHIR1 variants have not been previously observed in Japan. No electrophoretic variants were found in the TPI and NP systems.
Comments on the Penrose‐Stanton model of assortative mating
Authors: STARK A. E. 
Published: September 2007

SUMMARYA single‐locus model of assortative mating proposed by Penrose and extended by Stanton is analysed. It is shown that the formulae giving values of correlations between males and relatives derived by Stanton apply to a general class of symmetric, non‐selective mating schemes in equilibrium when genotypes have additive values. The canonical form of Stanton's system is derived, revealing that the assignment of additive values of genotypes does not apply also to the canonical vectors.
The value of dual mating data in estimating genetic parameters
Authors: MATTHYSSE STEVEN , KIDD KENNETH K. 
Published: September 2007

SummaryIt is shown that matings between two affected individuals provide important information on the parameters of a single locus model with incomplete penetrance.S.M. was supported by Research Scientist Development award, P.H.S. grants K2‐MH‐00108, MH‐ 16674 and MH‐25516. K. K. K. was supported in part by P.H.S. grant NS‐ 11786.
On effects of relaxed selection in familial disorders
Authors: DAVIE A. M. , SMITH C. , CURNOW R. N. , HOLLOWAY S. M. 
Published: September 2007

SummaryTheoretical predictions are made of the effect of improved treatments, with consequent increase in fertility of affected individuals, on the frequency of familial disorders. Multifactorial inheritance and some two‐locus models are considered. (Changes for simple Mendelian disorders have been estimated previously by many authors.) It is estimated that, with two‐locus or multifactorial models, an increase in frequency per generation of not more than a few per cent of the frequency of a disorder may be expected. The greatest increase will be in the first generation following introduction of the new treatment.A. M. Davie is a Medical Research Council Training Fellow.
On the probability of demonstrating differential fertility in genetic studies
Authors: MacCLUER JEAN WALTERS 
Published: September 2007

SummaryComputer simulation has been used to investigate the probability of detecting genetic dif‐ ferences in fertility in small cohorts. It was found that in cohorts of size 200 which have the demographic characteristics of females born in the United States in 1921‐5, the probability is approximately 0.50 of detecting, by analysis of variance, either a 20 yo reduction in the monthly probability of conception or a 15–20 yo increase in the rate of foetal loss in the first month after conception. Consideration is given to the relative sensitivities of various observable measures of fertility to variation in underlying fertility components.This study was supported by U.S. Public Health Service Grant 1 R01 HD07618 and by a Biomedical Research Support Grant from the National Institutes of Hoalth. I wish to thank Ellen R. Brennan for assistance in surveying the fertility literature; Bennett Dyke for helpful criticism of the manuscript; and the Center for Advanced Study in the Behavioral Sciences for providing me with the opportunity to complete this study. My fellowship at the Center was funded by National Science Foundation Grant BNS76‐22943.