bluuebunny/crossref_metadata_2025_split huggingface dataset:
Extended HLA profile of an inbred isolate: The Schmiedeleut Hutterites of South Dakota
Authors: Dawson Deborah V. , Ober Carole , Kostyu Donna D. 
Published: June 2005

AbstractHLA‐A, ‐B, ‐C, ‐DR, and ‐DQ typings of the Schmiedeleut Hutterites of South Dakota were collected as part of an ongoing genetic‐epidemiologic study of HLA and fertility. A total of 1,082 individuals, including 852 married adults representative of the reproductive population of this isolate, were characterized for five‐locus HLA haplotypes. HLA‐A1, A2, A3, and A24 accounted for 75% of observed HLA‐A alleles and HLA‐B27, B35, B51, and B62 accounted for 55% of observed HLA‐B alleles. S‐leut Hutterites are derived from 68 or fewer ancestors. However, only 48 ancestral HLA haplotypes were observed and nine of these accounted for over 52% of the observed haplotypes. Measures of two‐locus linkage disequilibrium derived from these haplotypes indicated that one‐third to half of the observed HLA‐A/B, B/DR, and A/DR allele combinations exhibited highly statistically significant linkage disequilibrium. Allele and haplotype frequencies did not differ between males and females. Recombination rates of 0.004% and 0.005% between HLA‐A and ‐C and between HLA‐B and ‐DR, respectively, were observed. This HLA profile points out a paucity of HLA alleles and haplotypes in this population and marked linkage disequilibrium among the HLA alleles that are present. © Wiley‐Liss, Inc.
Detection of a recessive major gene for high IgE levels acting independently of specific response to allergens
Authors: Dizier M. H. , Hill M. , James A. , Faux J. , Ryan G. , le Souef P. , Lathrop M. , Musk A. W. , Demenais F. , Cookson W. 
Published: June 2005

AbstractThe genetic control of the total IgE, the immunoglobulins E involved in allergy, remains still unclear. Although high IgE levels were found to be determined by a recessive major gene in several studies, other modes of inheritance were also reported. Moreover, at least two different genetic mechanisms controlling the IgE regulation have been suggested: one involved in the specific IgE response and the other one in the nonspecific response. To better understand the genetic mechanisms controlling IgE variation, we performed segregation analysis of IgE levels by ignoring or taking into account the specific response to allergens (SRA). Analyses were conducted using the class D regressive model, in a sample of 234 Australian nuclear families randomly selected during the winter months, when IgE levels are the lowest (basal). SRA, when included as a covariate in the model, was defined by one of the three following criteria: (1) raised specific IgE level for one or more allergens, (2) positive skin test for one or more allergens, and (3) at least one of the (1) or (2) criteria. When the presence of SRA is ignored, the familial transmission of total IgE level is compatible with the segregation of a recessive major gene and residual familial correlations. When the presence of SRA is accounted for in the analysis, whether defined by criteria (1), (2), or (3), there is still evidence for a recessive major gene controlling IgE levels but residual familial correlations are no longer significant. In addition, no interaction between this major gene and SRA is shown here. Our results suggest that this gene, which accounts for 28% of the variation of the trait, may be involved in the control of basal IgE production, independently of specific response to allergens. © Wiley‐Liss, Inc.
Use of robust statistical methods to determine the effect of fragile X on means and variance components of a quantitative trait
Authors: Huggins R. M. , Loesch D. Z. 
Published: June 2005

AbstractOwing to the presence of outliers, an estimated 3.5% in the ridge breadth data and 1.7% in the height data, the effect of fragile X on height and ridge breadth was examined using robust statistical techniques for data collected from 54 families afflicted with this disorder. It is shown that fragile X affects ridge breadth and height in a different manner. Fragile X women had a greater mean ridge breadth than normal women, whereas there was a similar trend, but no significant difference, between normal and fragile X men. Fragile X men were shorter than normal men, but no significant difference between the mean height of normal and fragile X women was observed. However, fragile X girls were shown to grow more quickly and to stop growing earlier than normal girls. An examination of the covariance between relatives classified according to fragile X status showed that for both traits the effect of fragile X was to reduce the covariance between parents and offspring, which produced the effect of departure from an additive polygenic model of inheritance. ©1995 Wiley‐Liss, Inc.
Method for calculating risk associated with family history of a disease
Authors: Kerber Richard A. 
Published: June 2005

AbstractA method is described for estimating excess relative risks of a disease from familial factors. Beginning with population‐based series of cases and controls, a cohort of each subject's relatives is formed and checked for disease against a population based registry. The disease experience of the cohort formed from each subject's relatives is summarized as a kinship‐weighted familial standardized incidence ratio (FSIR). The FSIR's are used as exposure estimates in conditional linear excess relative risk models, which may be used not only to screen for significant familial disease aggregations, but also to estimate relative risks, population attributable risks, and gene‐environment interactions. The method is demonstrated on 4083 breast cancer cases from Utah and a set of matched controls. ©1995 Wiley‐Liss, Inc.
Population genetic study of the human dopamine transporter gene (DAT1)
Authors: Doucette‐Stamm Lynn A. , Blakely Derron J. , Tian Jingxiang , Mockus Sue , Mao Jen‐i 
Published: June 2005

AbstractThe human dopamine transporter gene, DAT1, acts to transport released dopamine into presynaptic terminals of the brain. The possibility that the DAT1 gene plays a role in genetic diseases of the brain has led to studies of DAT1 in several psychiatric and neurological disorders. Previous sequence analysis of DAT1 revealed a 40‐bp repeat in the 3′ end of the gene. In order to identify all potential alleles for this VNTR marker a population database was established. One thousand seventy‐four unrelated individuals were screened by PCR for the region containing the 40 bp repeat. Allele frequency differences were found between black Americans and Caucasians or Hispanics but no differences were observed between Caucasians and Hispanics. A previously unreported allele was detected in all three populations. Thus, we have shown that screening a large population identifies new alleles and generates more accurate allele frequencies. ©1995 Wiley‐Liss, Inc.
Dementia among elderly apolipoprotein E type 4/4 homozygotes: A prospective study
Authors: Ganguli Mary , Cauley Jane A. , Dekosky Steven T. , Kamboh M. Ilyas 
Published: June 2005

AbstractThe E*4 allele of the apolipoprotein E (APOE) gene on chromosome 19 has been shown to be an age‐ and dose‐related risk factor for Alzheimer's disease. Of 870 elderly women participating in an osteoporosis study, 13 were previously found to be homozygous for the APOE*4 allele; 1 was deceased and the rest were assessed for dementia in a “piggyback” study of dementia. One had moderate [clinical dementia rating (CDR) = 2], 2 had mild dementia (CDR = 1), and 2 had possible dementia (CDR = 0.5). All 3 women over 80 years were definitely demented (CDR ⩾ 1).Typically, genetic studies of Alzheimer's and other dementias require the identification and diagnosis of large numbers of demented subjects, at considerable expense, followed by genotyping or phenotyping with a relatively low yield of individuals with rare alleles. We demonstrate a more cost‐effective approach in which the population is first phenotyped and then stratified by phenotype, so that diagnostic evaluation can be restricted to individuals with the phenotype of interest. ©1995 Wiley‐Liss, Inc.
Maximum‐likelihood estimation in linkage heterogeneity models including additional information via the EM algorithm
Authors: Houwing‐Duistermaat Jeanine J. , Sandkuijl Lodewijk A. , Bergen Arthur A. B. , van Houwelingen Hans C. 
Published: June 2005

AbstractIn linkage analysis, estimated recombination fractions between a disease gene and several markers are used to assign the disease gene to a a particular chromosome region. For rare diseases, locus heterogeneity leads to different recombination fractions in different families, and a set of pedigrees can be regarded as a mixture. Information which can help to classify the different families may be available and can be included in the model. This is demonstrated for a data set of X‐linked retinitis pigmentosa families. The joint distribution of the position of the disease gene and the additional information on the penetrance of tapetal reflex among obligate female carriers is studied. A model including the additional information is fitted to the data using the EM algorithm. The algorithm uses for every pedigree the lod score curve which can be obtained from a standard (multipoint) linkage analysis. ©1995 Wiley‐Liss, Inc.
Data simulation for GAW9 problems 1 and 2
Authors: Speer Marcy C. , Terwilliger Joseph D. , Ott Jurg 
Published: June 2005

AbstractHerein we describe the methods utilized to simulate the genetic marker data for GAW9 Problems 1 and 2, as well as the pedigree and phenotype data for GAW9 Problem 1. ©1995 Wiley‐Liss, Inc.
Comparing the power of linkage detection by the transmission disequilibrium test and the identity‐by‐descent test
Authors: Clerget‐Darpoux Françoise , Babron Marie‐Claude , Bickeböller Heike 
Published: June 2005

AbstractThe aim of this study is to compare the power of the transmission disequilibrium test (TDT) to that of the identity‐by‐descent (IBD) distribution test. The relative powers of these tests depend both on the underlying genetic model and on the available family data. Families with two affected sibs are always more informative than those with one affected child and one unaffected child. The IBD test is always more powerful in the first situation and, contrary to the TDT, is independent of the presence of gametic disequilibrium. When there is strong linkage disequilibrium, the TDT can be more powerful than the IBD test. In that case, linkage can be detected by the TDT even in families with only one affected child. ©1995 Wiley‐Liss, Inc.
Two‐locus approach of segregation and linkage analysis in the study of complex traits
Authors: Xu Jianfeng , Taylor Eugene W. , Panhuysen Carolien I. M. , Prenger Valerie L. , Koskela Rebecca , Kiemeney Bart , LaBuda Michele C. , Maestri Nancy E. , Meyers Deborah A. 
Published: June 2005

AbstractA two‐locus segregation and linkage‐analysis approach was used to characterize the genetic control of a complex trait (Q1) and to localize the genes that have detectable effects. The results suggested that a two‐locus Mendelian model fit the data significantly better than a one‐locus model. The linkage results based on the most parsimonious two‐locus model revealed linkage of Q1 to two areas (MG2 and MG3), while there was less evidence for linkage using one‐locus models. Results also suggested that the subphenotypes (Q2 and Q3) provided useful information for further analysis of Q1 using two‐locus models. © 1995 Wiley‐Liss, Inc.
Studies on the development of mouse embyros in vitro. II. The effect of energy source
Authors: Brinster Ralph L. 
Published: June 2005

AbstractThe effect of various possible energy sources on the development in vitro of two‐cell mouse ova into blastocysts was examined. Energy for development of two‐cell mouse ova could be supplied by lacatate, pyruvate, oxaloacetate, or phosphoenolpyruvate. Compounds such as glucose, fructose, ribose, glucose‐6‐phosphate, fructose‐1, 6‐phosphate, acetate, citrate, α‐ketoglutarate, succinate, fumarate, and malate could not provide energy for development of two‐cell mouse ova. The optimum concentrations at pH 7.38 for those compounds which would supply energy was 5.00 × 10−2 M lactate, 3.16 × 10−4 M oxaloacetate, and 1.00 × 10−2 M phosphoenolpyruvate.The possibility that interactions existed between the effects of osmolarity, pH, and energy source was examined in several experiments. There was no interaction between the effects of osmolarity and pH or osmolarity and the four possible energy sources. However, there was a singnificant interaction between energy source and pH. The result of this is that an increase in pH of the medium results in an increase in the optimum concentration of the compound supplying energy to the developing ova.
The effects of choline and related compounds on the growth and development of Drosophila melanogaster
Authors: Geer B. W. , Vovis G. F. 
Published: June 2005

AbstractTwenty‐three structurally related compounds were tested as choline substitutes in the diet of D. melanogaster to determine the specificity of different structural groups in the growth action of the choline molecule. None of the substitutes completely replaced choline in the diet, indicating that the intact choline molecule is essential for maximal growth action. The single most important group is the hydroxyl group. It must be located terminally and on the 2‐carbon for the maximal growth effect. Three methyl groups are essential for maximal growth action, but they are not employed in transmethylation. The sulfur analogue is effective at low concentrations but is toxic at higher concentrations, indicating the importance of the nitrogen atom.A comparison of dietary requirements indicated that the choline requirements for the growth of Drosophila, the growth of Neurospora choline‐requiring mutants, perosis‐prevention in the chick, and fatty liver prevention in the rat have a basic similarity. It is suggested that choline is required as a phospholipid entity by all of these organisms.The insects differ in their abilities to utilize quaternary ammonium compounds which have carbon groups associated with the 2‐carbon. D. melanogaster can use carnitine, deoxycarnitine, and β‐methylcholine in place of choline, apparently converting deoxycarnitine to carnitine and carnitine in turn to β‐methylcholine. This contrasts with the specific carnitine requirement of the beetles of the family Tenebrionidae.D. melanogaster can also convert betaine aldehyde to choline.
An autoradiographic investigation of tooth renewal in the purple sea urchin (Strongylocentrotus purpuratus)
Authors: Holland Nicholas D. 
Published: June 2005

AbstractThe DNA‐synthesizing cells in the tooth of the purple sea urchin were labeled with tritiated thymidine and detected with autoradiography. After one hour many cells were labeled in the abaxial peripheral layer of the soft, aboral end of the tooth. These cells were the chief source of new cells for tooth renewal. With time, the cells labeled in the abaxial peripheral layer (and several generations of their progeny) migrated as a zone of labeled cells. The zone migrated in an oral direction toward the hard, biting end of the tooth. The labeled cells in the leading part of the migrating zone occupied lateral positions in the tooth, and the labeled cells in the trailing part of the migrating zone occupied a median position. The time of tooth renewal in young adult specimens of the purple sea urchin maintained in the laboratory is approximately 75 days.
Acoustic orientation by fish‐catching bats
Authors: Suthers Roderick A. 
Published: June 2005

AbstractCaptive Noctilio leporinus were unable to detect pieces of fish tissue or small air‐filled balloons mounted a few millimeters below the surface of the water. An up‐welling of water and small wires projecting vertically above the water surface were readily detected and dipped at, however. Single wires 0.21 mm in diameter extending 5 mm out of the water were regularly detected and 1 mm lengths of this same diameter wire were dipped at well above chance levels. One or 2 cm2 cubes of fish muscle mounted above the water surface were detected at average distances of 148 and 132 cm as judged by the distances at which pulse duration and interval, respectively, first began to decrease. The average distance of detection of 5 mm lengths of 0.21 mm diameter wire was 59 cm as estimated by decreases in pulse interval. Several bats learned to distinguish between a single wire 1.3 mm in diameter extending 5 mm above the surface and a pair of wires 0.9 mm in diameter extending 5 mm above the surface and spaced 2 cm apart. Experienced bats made about 80% of their dips at whichever of these two targets marked the position of the submerged food. A pair of identical wires sloping in opposite directions were not distinguished. Detection and discrimination are independent of vision and olfaction, being accomplished entirely by echolocation. Two well defined pulse types are emitted: an almost constant frequency one at 60 kc/s and one with an initial portion of constant frequency followed by a downward frequency sweep of about one octave. Entirely frequency followed by a downward frequency sweep of about one octave. Entirely frequency modulated pulses are emitted only during difficult maneuvers which require high pulse repetition rates, such as when catching food or landing. When bats flying low over the water approach each other on a collision course, the downward frequency sweep is lengthened to cover about tow octaves. This serves as a warning allowing the bats to swerve off their collision course.
A stable mitochondrial DNA in Tetrahymena pyriformis
Authors: Stone G. E. , Miller O. L. 
Published: June 2005

AbstractAutoradiographs of Tetrahymena cells labeled with 3H‐thymidine for long periods of time indicate incorporation into acid‐insoluble, DNase sensitive material in the cytoplasm. Results of electron microscope autoradiography show that 73% of the cytoplasmic silver grains occurred over mitochondria profiles, 92% of the grains were located over or within 0.5 μ of mitochondria while 97% of the silver grains were over or within 1.0 μ of mitochondria.Tests to determine loss or gain of radioactivity during cell growth and division show that approximately one‐half of the label in each cell is transmitted to each daughter cell during division.The results demonstrate that mitochondria of Tetrahymena pyriformis contain a stable DNA‐like material.
Juvenile phase in weaver finch (Ploceus philippinus)
Authors: Thapliyal J. P. , Chatterji S. 
Published: June 2005

AbstractThe photosensitive weaver bird (Ploceus philippinus) has a long juvenile phase when, while the bird is insensitive to photostimulation, the gonads respond to injected gonadotrophins. It is suggested that the immature status of the hypothalamo/hypophyseal complex may be responsible for the presence of a long pre‐photoresponsive phase in this bird.
Inhibition of regeneration of the gonopodium of the guppy by treatment with thiouracil
Authors: Hopper Arthur F. 
Published: June 2005

AbstractIt has been shown previously that the gonopodium of Lebistes develops and regenerates under the influence of testicular hormone. Since it has also been demonstrated that hypothyroidism inhibits gonopodial differentiation in the young fish, the relation between the hypothyroid state and gonopodial regeneration deserves investigation.Adult male guppies kept in 0.03% thiouracil fail to regenerate normal gonopodia and the longer the exposure, the greater the inhibition. However, thiouracil has no effect on the regeneration of the female and fin. Thiouracil treatment results in thyroid follicular hyperplasia and vacuolization of and fat deposit in the liver. However, it is postulated that inhibition of anal fin regeneration in the male following thiouracil treatment is not the result of disturbance in protein or fat metabolism, but is due to a hormonal imbalance.
Fertilization in tunicates: Loss of the paternal mitochondrion prior to sperm entry
Authors: Ursprung Heinrich , Schabtach Eric 
Published: June 2005

AbstractThe spermatozoa of Ascidia nigra contain only one mitochondrion. Phase contrast and electron microscopical evidence is presented showing that the spermatozoon loses its mitochondrion before it enters the perivitelline space. Thus, in these organisms, the paternal mitochondrion plays no role in the development of the zygote and cannot contribute mitochondrial DNA to the genetic repertory of the zygote.
Some effects of bleeding on the iron metabolism of normal and of starved turtles (Pseudemys scripta elegans)
Authors: Hirschfeld William J. , Gordon Albert S. 
Published: June 2005

AbstractThe effects of bleeding on the short and long‐term iron metabolism of the turtle, Pseudemys scripta elegans, have been determined. Values are given for the plasma radioiron clearance and the clearance constant (K) in normal, bled‐normal and in unbled‐starved turtles. Clearance rates were increased by bleeding but were unaffected by starvation. The rate of the long‐term plasma radioiron clearance (normally slow) was augmented by bleeding in both normal and starved animals. Bleeding increased both the rate and magnitude of erythrocyte radioiron incorporation in normal but not in starved turtles. The distribution of injected 59Fe in plasma, erythrocytes, spleen, liver and duodenum is described for normal turtles. The time of availability of injected radioiron for splenic erythropoiesis was about two days, beginning on the second day after administration of the isotope. Storage of iron in the spleen appeared unlikely because of the decrease in spleen radioactivity noted from the fourth day on. This decrease was followed after two days by a similar decrease in circulating erythrocyte radioactivity. From the sixth to the fourteenth days after injection, radioiron moved to the liver and duodenum. It remains to be determined whether this migration represented storage or excretion of the iron.
The plant estrogen, coumestrol, as an agent affecting hypophysial gonadotropic function
Authors: Leavitt Wendell W. , Wright Paul A. 
Published: June 2005

AbstractMice bearing intrasplenic ovarian autografts were treated with coumestrol (500 μg/gm diet) and estradiol‐17 β (0.5 μg/day) for 14 days. The splenic grafts of all controls were in various stages of follicular development, whereas some of those receiving estradiol and coumestrol became luteinized. The gonadotropes in the pars distalis of controls were abundant and degranulated. Few PAS‐positive gonadotropes were left after estradiol treatment, showing that the dose used was capable of inhibiting production of gonadotropin. Coumestrol was thought to block release of gonadotropin rather than production since gonadotropes were plentiful and filled with PAS‐positive material.Dietary coumestrol for 10 days at several lower levels produced estrogenic effects on the vagina and uterus of immature mice. However, none of the diets depressed ovarian growth, and it was concluded that no significant inhibition of gonadotropin occurred under these conditions.In general, the results of this study indicate that coumestrol has physiological effects on hypophysial function, relatively large doses are required for antigonadotropic effects, and its primary effect on gonadotropes is to inhibit release.