bluuebunny/crossref_metadata_2025_split huggingface dataset:
Sex ratio in spontaneous abortions
Authors: Hassold T. , Quillen S. D. , Yamane J. A. 
Published: September 2007

SummaryAn analysis of sex ratio was made for chromosomally normal and trisomic spontaneous abortions identified in a cytogenetic survey of spontaneous abortions. For the chromosomally normal group, the extent of maternal contamination among 46, XX abortions was determined by comparing chromosome heteromorphisms of the parents with those from the tissue samples. The sex ratio among the normal abortions was then estimated to be approximately 1.30, after correcting for the maternal contaminants and 46, XX hydatidiform moles of androgenetic origin. This estimate is significantly higher than values typically reported for newborns, indicating an effect of X‐linked genes acting in utero.The sex ratio among trisomic abortions identified in the present study and in four other cytogenetic studies of spontaneous abortions was also significantly greater than 1.0, but not as high as the estimates of sex ratio for the chromosomally normal abortions. There was considerable variability among individual trisomies, and possible mechanisms leading to this variation are discussed.
Natural selection associated with birth weight. IV. U.S.A. data from 1950 to 1976
Authors: TERRENATO L. 
Published: September 2007

SummaryDifferential still birth rates as a function of birth weight have been studied in all single births in the United States of America (White and Non‐white groups) in the years 1950, 1958, 1967 and 1976. During the 26‐year interval a reduction of both the stabilizing effect and the intensity of selection have been observed. For the 1960 cohort it has been found that selection associated with birth weight is mainly operating in the perinatal period and only minor effects are still present at one year of age.
Absence of functional messenger RNA for glycogen phosphorylase in the muscle of two patients with McArdle's disease
Authors: DAEGELEN D. , MUNNICH A. , LEVIN M. J. , GIRAULT A. , GOASGUEN J. , KAHN A. , DREYFUS J. C. 
Published: September 2007

Summary(1) Two unrelated cases of McArdle's disease (glycogen storage disease type V, deficiency in muscle‐type glycogen phosphorylase, EC.2.4.1.1) with no detectable inactive protein, and two heterozygous relatives of one patient, have been investigated for the presence or absence of functional messenger RNA. Methods were developed and scaled down to be compatible with clinical‐size biopsies.(2) Total muscle RNA was prepared and translated in a rabbit reticulocyte cell‐free system. Neosynthesized products were isolated by immunoaffinity microchromatography. Phosphorylase was compared with control enzymes neosynthesized and purified under the same conditions.(3) No functional mRNA for phosphorylase could be detected in the muscles of the two patients. A decreased amount of messenger for phosphorylase, compared with the control enzymes, was found in the muscles of the two heterozygotes.(4) Exploration of functional messenger RNA in clinical enzymopathies should be readily adaptable to a number of enzymatic diseases.
Genetic linkage between the loci for myotonic dystrophy and peptidase D
Authors: O'BRIEN T. , BALL S. , SARFARAZI M. , HARPER P. S. , ROBSON E. B. 
Published: September 2007

SummaryIn a linkage study between myotonic dystrophy and peptidase D it is evident from the lod score values that with high probability θ lies between 0 and 0.1. The data thus support a previous hint of linkage between peptidase D and the Lutheran and secretor loci, which were already known to be linked to myotonic dystrophy.
Molecular studies on galactose 1 phosphate uridylyl transferase from normal and mutant subjects. An immunological approach
Authors: BANROQUES J. , SCHAPIRA F. , GRÉ; C. , DREYFUS J.‐C. 
Published: September 2007

SummaryThe mutant forms of uridylyl transferase of eight galactosemic patients and two ‘Rennes’ variants were characterized with regard to the presence and level of immunoreactive protein, the apparent subunit molecular weight and the isoelectric point. Semi‐purified haemolysates were studied by various electrophoretic techniques, then proteins were electrophoretically transferred on to nitrocellulose filters. They were treated with specific anti‐transferase antibodies, and then with radioiodinated protein A, followed by autoradiography. We have found that: (1) in all cases, a cross‐reacting material was detectable, with a molecular subunit size of 46000, indistinguishable from that of controls. (2) a biochemical heterogeneity of the mutant enzyme was found: the amount of apparent immunologically reactive protein varied from 20 to 100% of that of controls; electrophoretic experiments performed on two ‘Rennes’ variants showed an increased negative charge.
Quantitative variations in polymorphic types of human red cell esterase D
Authors: NISHIGAKI I. , ITOH T. , OGASAWARA N. 
Published: September 2007

SummaryHuman red cell esterase D was analysed quantitatively in Japanese samples. Among the three esterase D phenotypes there was a significant difference in catalytic activity, with an approximate ratio of 7:5:3 for EsD 1, EsD 2‐1 and EsD 2. With a few inter‐type individuals, the distribution of their activity values was plotted in a tri‐modal curve. These results suggest that the esterase D system in human red cells is qualitatively and even quantitatively controlled by genes.
Mutagen hypersensitivity in Friedreich's ataxia
Authors: EVANS H. J. , VIJAYALAXMI  , PENTLAND B. , NEWTON M. S. 
Published: September 2007

SummaryCultured blood lymphocytes from nine patients with Friedreich's ataxia (FrA) and nine matched controls were exposed to a series of graded doses of mitomycin C and ethyl methane sulphonate and examined for the incidence of sister chromatid exchange (SCE). The spontaneous SCE levels did not differ between patients and controls, but the cells from each of the patients showed a significantly enhanced response to the induction of SCE by both mutagens – the patients' cells being up to 50 % more sensitive than controls. Cultures from five FrA patients and five controls were analysed to determine the spontaneous incidence of chromosomal aberrations and exposed to a graded series of X‐ray doses to measure their response to radiation‐induced chromosome damage. The spontaneous aberration incidence in controls did not differ from that found in other control series, but the background incidence of aberrations in cells from the FrA patients was significantly above control levels and appeared to reflect an enhanced response to diagnostic exposure to radionuclides. The FrA cells showed a significantly enhanced in vitro response to chromosome aberration induction by X‐rays, the net aberration yields being some 60 % greater than those in irradiated controls at doses up to 200 rads. It is concluded that FrA is yet another syndrome which shows hypersensitivity to the induction of chromosome damage by mutagens. Possible factors responsible for this hypersensitivity are discussed and comparisons drawn with ataxia telangiectasia, another autosomal recessive disease characterized by enhanced X‐ray sensitivity.
Huntington's Chorea in the Netherlands The problem of genetic heterogeneity
Authors: WENT L. N. , VLIS M. VEGTER‐VAN DER , BRUYN G. W. , VOLKERS W. S. 
Published: September 2007

SummaryFor 1100 patients with Huntington's Chorea in 102 families from The Netherlands the average age at death per family is presented. This average ranges from 72 to 38 years. An analysis of variance of the data is strongly indicative of genetic heterogeneity. For the patients with the relatively high age at death little or no difference is observed from the age at death of their non‐affected parents and non‐affected sibs. Eleven children who presented with the juvenile form of the disease had all inherited the abnormal gene from their father. These 11 children were found only in families with an average age at death below 57 years. Other factors that might possibly influence the variation of average age at death between families are discussed, but cannot explain the observed differences.
Gene order and gene distances in the HLA region studied by the haplotype method
Authors: OLAISEN B. , TEISBERG P. , JONASSEN R. , THORSBY E. , GEDDE‐DAHL T. 
Published: September 2007

SummaryThe present report describes a method to establish gene order and gene distances in chromosomal regions where several genes are located closely together. The method is applied to the study of the complement loci in the HLA complex on chromosome 6 in man.The method is based on allelic association, i.e. alleles of closely linked loci are nonrandomly associated on haplotypes. A haplotype which yields information has a frequency higher than would be expected from the frequencies of each of its alleles. They occur, moreover, with a frequency which makes them the main source of the least frequent of the alleles in the combinations. Other haplotype combinations involving this allele (these alleles) are most likely the results of recombinational events involving a main haplotype. Such crossovers may therefore, on certain conditions, be used for gene mapping purposes. Some basic rules for the use of the method are given.A total of 701 haplotypes involving the short arm of chromosome 6 have been studied. Typings have been performed with regard to HLA‐A, ‐B, ‐C, ‐D/‐DR, C4, C2 and Bf. The study confirms previous localization of the complement loci between HLA‐D and ‐B. The investigation suggests the order HLA‐D‐Bf‐C4‐C2‐HLA‐B. There is, moreover, slight evidence in favour of a localization of the C4A gene on the HLA‐B side of C4B. Given an HLA‐A‐HLA‐B distance of 0.8 cM, suggested relative distances are: HLA‐D‐Bf: 0.44 cM, Bf‐C4: 0.04 cM, C4‐C2:0.11 cM, and C2‐HLA‐B:0.12cM.
Relationships between early mortality and sex ratio: changes over the last century in Italy
Authors: ULIZZI L. 
Published: September 2007

SummaryItaly, like other industrialized countries, experienced during the last century a dramatic change in socio‐economic conditions and in sanitation. In order to ascertain whether the improvement in living conditions has modified the relationships between the sex ratio at birth and selection by early mortality (stillbirth, mortality up to 1 month, mortality up to 1 year of life), the secular trends of the sex ratio in total births, in survivors up to 1 month and up to 1 year of age have been calculated for the Italian population over the last century. The results can be summarized as follows:(i) the sex ratio in total births progressively decreases;(ii) the sex ratio in survivors up to 1 year progressively increases.As a result of these two opposite trends, the difference between sex ratio at birth and after the incidence of early mortality is progressively getting smaller.
Confirmation of the assignment of human biliverdin reductase to chromosome 7
Authors: Parkar M. , Jeremiah S. J. , Povey S. , Lee A. F. , Finlay F. O. , Goodfellow P. N. , Solomon E. 
Published: September 2007

SummarySegregation of biliverdin reductase (BLVR) in 11 independent human‐mouse hybrids confirms the assignment to chromosome 7 in man and gives a regional localization of 7pter → 7q22. Isoelectric focusing of BLVR reveals genetically determined variation among inbred strains of mice.
Surnames in Sardinia II. Computation of migration matrices from surname distributions in different periods
Authors: Wijsman E. , Zei G. , Moroni A. , Cavalli‐Sforza L. L. 
Published: September 2007

SummaryA method is described for obtaining migration matrices from data on frequency distributions of transmissible traits in at least two different periods. In the present case, surname frequency distributions were used. In this way migration matrices describing rates of movement among nine areas of Sardinia were found for the period 1850–1970. Data were kinship matrices from surname distributions over two or three time periods. Population growth was included in the model under the assumption that expected family size in all areas was constant, or that outside estimates of the relative family sizes exist. Use of variable vs. constant growth rates did not drastically affect the estimated matrices.The matrices estimated for different time periods are similar. Estimates of net migration into the different areas were relatively insensitive to different methods of summarizing statistics.The elements of the matrices indicate strong effects on migration rates of distance between areas, and somewhat weaker effects of economic differences. The diagonal elements of the matrices show a high negative correlation with independent estimates of rates of immigration into the same areas.
Family data on sixteen chromosome 1 loci
Authors: Robson E. B. , King J. 
Published: September 2007

SummaryLod scores are presented from the published and unpublished data of the Galton Laboratory, and from published data on sixteen chromosome 1 loci, AMY, AT3, CAE, CMT1, ELI, ENO1, FUCA, Fy, GDH, PEPC, PGD, PGMI, Rh, Sc, UMPK and 1qh.
Genetic aspects of erythropoietic protoporphyria
Authors: WENT L. N. , KLASEN E. C. 
Published: September 2007

SummaryAn exhaustive study of erythropoietic protoporphyria in the Netherlands led to the discovery of 200 patients with this disorder in 91 families. In 46 of these families a single patient occurred. A study of parents, sibs and children led to the conclusion that the disease of erythropoietic protoporphyria is inherited as an autosomal recessive disorder. The presence of an occasional fluorescent red blood cell combined with normal protoporphyrin levels was observed in half of the children and sibs of patients and one of their parents; this phenomenon is therefore inherited as an autosomal dominant character. From an analysis of the findings in the 91 families we put forward the hypothesis of a 3‐allele system.
Linkage of the LW blood group locus with the complement C3 and Lutheran blood group loci
Authors: SISTONEN P. 
Published: September 2007

SummarySegregation data on LW in families of informative males show that the LW (Landsteiner‐Wiener) blood group locus is closely linked to the complement C3 locus and to the locus for the Lutheran blood group. This finding also confirms the presence of a larger linkage group on chromosome 19, including now the loci for apoE, Le, C3, LW, Lu, Se, H, PEPD, myotonic dystrophy (DM), neurofibromatosis (NF) and familial hypercholesterolemia (FHC). Linkage of LW with the Lewis blood group locus could not be definitely established by the present family data, but small positive scores between LW and Le suggest that the Le locus is situated outside the C3‐LW region.
Regional localization of 3 Y‐derived sequences on the human X and Y chromosomes
Authors: WOLFE J. , ERICKSON R. P. , RIGBY P. W. J. , GOODFELLOW P. N. 
Published: September 2007

SummaryThe structure of the Y chromosome and the relationship between the human sex chromosomes have been studied using Y‐derived sequences cloned in cosmids. Two probes recognize different unique sequences which map to the heterochromatic part of the long arm of the Y chromosome. A third sequence is shared by the long arm of the X chromosome and the euchromatic part of the Y chromosome. Thus homology between the sex chromosomes occurs outside the pairing region.
Body size and shape in 46, XX males: an anthropometric investigation
Authors: VARRELA J. 
Published: September 2007

SummaryAnthropometric measurements of four 46, XX males are compared with those of their first degree male relatives, control males, and a sample of 47, XXY males. Most dimensions of 46, XX males are smaller than those of normal males. 46, XX males are also shorter and smaller than 47, XXY males.The present results support the earlier suggestion that there is a gene(s) in the Y chromosome with a general size‐increasing effect and that the Y chromosome has an active role in the development of sex dimorphism in many body dimensions. These four 46, XX males may possess the Y chromosomal gene which sets the later timing of development in males.
Genetic variants of human erythrocyte glucose‐6‐phosphate dehydrogenase: new characterization data obtained by multivariate analysis
Authors: VERGNES H. A. , BONNET L. G. , GROZDEA J. D. 
Published: September 2007

SummaryThirteen variables used in the course of characterization of G6PD variants from forty‐one individuals have been submitted to multivariate factorial and cluster analysis. Because of the diagrammatic representation of the analysis, two main findings were made possible. Firstly, the three‐dimensional plot of the experimental data gives the advantage of a model of classification which is closely related to the ethnogeographical origin of the subjects, and to the clinical and haematological incidence of the G6PD variants. Secondly, cluster analysis visualizes the distance between the G6PDs examined. In this respect, it was determined that three local original variants associated with acute haemolytic anaemia showed a close relationship and belonged to the same cluster (Gd(—) Toulouse, Gd(—) Muret and Gd(—) Colomiers). Conversely, two non‐haemolytic variants (G6PD Luz Saint Sauveur and Lozère) were found to be linked in another remote cluster. The procedure developed in this work promotes a new approach to G6PD characteristics in human genetic studies.
Twinning rates in Fiji
Authors: POLLARD R. 
Published: September 2007

SummaryThe incidence of twins in Fiji has been investigated using birth registrations for the years 1976–81. The twinning rate for the indigenous Fijians is found to be 9–4 per 1000 live maternities, (based on 407 sets of twins), and for Indians, descendants of immigrants who began to arrive in Fiji in 1879, 6·2 per 1000 (based on 350 twins). After standardizing for maternal age, the difference between the two ethnic groups decreases slightly, but the Fijian rate remains almost 40% above that of the Indians. This difference is consistent over the 6 years of the study, is found for mothers of all age groups under 40 and at all levels of parity. An analysis of hospital records in Fiji produces higher twinning rates for both Fijians and Indians, but a similar difference is found between the two ethnic groups. Although the twinning rate for Fijians is lower than that reported for other Melanesian people, it is well above reliable rates found for Mongoloid races from whom the Fijian is descended. The sparse information on twinning rates among Polynesians suggests rates not dissimilar from Melanesians, so that no support for the hypothesis of low twinning rates in the Pacific is evident. The twinning rate for Indians in Fiji is lower than rates reported from the Indian subcontinent.
A population study of alpha‐keto acid reductase
Authors: FRIEDRICH C. A. , FERRELL R. E. 
Published: September 2007

SummaryAn electrophoretic survey of 509 individuals of Japanese, Mexican American, American Negro, Eskimo, Amerindian and Anglo‐American origin failed to reveal genetically determined variation at the alpha‐keto acid reductase locus by starch gel electrophoresis. Additional screening of 232 individuals by thin layer isoelectric focusing in polyacrylamide gels detected a single phenotype. Interspecific variation at the alpha‐keto acid reductase locus is clearly resolved using either method. These results indicate that the alpha‐keto acid reductase locus is monomorphic in most human population groups despite earlier results suggesting the existence of genetic polymorphism.
Localization of the human aryl hydrocarbon hydroxylase gene to the 2q31→2pter region of chromosome 2
Authors: OCRAFT K. P. , MUSKETT J. M. , BROWN S. 
Published: September 2007

SummaryAnalysis of hybrid cells containing fragments of human chromosome 2 has resulted in the regional localization of a gene for aryl hydrocarbon hydroxylase (AHH). Hybrids prepared from a human cell line containing an established translocation have shown that AHH can be localized to the region 2q31→2pter.
Isolation of a cDNA clone for the human muscle specific carbonic anhydrase, CAIII
Authors: LLOYD J. C. , ISENBERG H. , HOPKINSON D. A. , EDWARDS Y. H. 
Published: September 2007

SummaryThe molecular cloning of cDNA for the human muscle specific carbonic anhydrase CAIII is described. The recombinant was isolated from a human muscle cDNA library prepared in the expression vector Λgt11, and was characterized by hybridization selection and immunoprecipitation. A comparison of insert cDNA and mRNA sizes suggests that the cDNA is full length and includes extensive untranslated sequences. Preliminary sequence data have confirmed the authenticity of this clone and Southern blotting of human and rodent DNA indicates that it will be a useful probe in the analysis of somatic cell hybrids.
Analysis of genetic variation in two human thyroxine‐binding plasma proteins by immunodetection after isoelectric focusing
Authors: WHITEHOUSE D. B. , HOPKINSON D. A. , HILL A. V. S. , BOWDEN D. K. 
Published: September 2007

SummaryAn immunological method for the detection of two thyroxine‐binding plasma proteins, thyroxine‐binding globulin (TBG) and thyroxine‐binding prealbumin (TBPA), following polyacrylamide gel isoelectric focusing is described. Both proteins show complex electrophoretic patterns, attributable to post‐translational glycosylation, which are affected by unfavourable conditions of sample storage. No genetic variants of TBG or TBPA were encountered in a study of N. European individuals (n= 50). The X‐linked TBG polymorphism, previously detected using a radiolabelled ligand binding technique in Pacific Islanders, was, however, demonstrable by our new immunological method in a previously untested population (n= 139) from the island of Maewo in Vanuatu.
A cytochrome P‐450 gene family mapped to human chromosome 19
Authors: PHILLIPS I. R. , SHEPHARD E. A. , POVEY S. , DAVIS M. B. , KELSEY G. , MONTEIRO M. , WEST L. F. , COWELL J. 
Published: September 2007

SummaryWe have recently isolated a cloned cDNA coding for a cytochrome P‐450 of human liver microsomal membranes, which corresponds to a major phenobarbital‐inducible cytochrome P‐450 of rat liver. This human cytochrome P‐450 is encoded by a member of a multigene family. DNA extracted from a panel of 12 independent human‐rodent somatic cell hybrids was analysed by Southern blot hybridization with the cloned cDNA. The results indicate that all components of this cytochrome P‐450 gene family are located on chromosome 19. Evidence from hybrids derived from an individual carrying a balanced translocation suggests a regional localization of 19p13.2→qter. Analysis of human metaphase chromosomes by in situ hybridization localizes this cytochrome P‐450 gene family further to the long arm of chromosome 19 in the region q13.1→qter. We propose the designation P450PB for this locus.
Absence of significant autosomal lesions in Huntington's disease
Authors: BEVERSTOCK G. C. , MOL A. , WIENHOFER E. 
Published: September 2007

SummaryPeripheral blood from six patients with Huntington's disease (HD) and six controls were cultured in three types of media known to produce fragile sites. A total of 3000 metaphases per group were scrutinized in a blind coded study. No significantly specific ‘hot‐spot’ was found capable of differentiating between HD patients and controls.
Immunological cross‐reactivity of alcohol dehydrogenase (ADH) isozymes with rabbit immune sera against horse and human ADH subunits
Authors: ADINOLFI A. , MASSA O. , ALESSANDRO G. d' 
Published: September 2007

SummaryRabbit immune sera raised against denatured forms of horse liver alcohol dehydrogenase and of human ADH5 isozyme were found to react with the denatured subunits of all the human ADH isozymes regardless of their class.The immune serum against the human ADH isozyme cross‐reacted also with horse ADH subunits and, at appropriate dilutions, both the immune sera reacted with denatured yeast ADH, suggesting that common structures have been preserved in these molecules over a long evolutionary period.The immune sera partially reacted also with the respective antigens in their native conformation, indicating that some ‘sequential ’ epitopes are expressed on the surface of the folded proteins.