WorldWideScience

Sample records for bivariate flow karyotyping

  1. Flow karyotyping and sorting of human chromosomes

    Energy Technology Data Exchange (ETDEWEB)

    Gray, J.W.; Lucas, J.; Peters, D.; Pinkel, D.; Trask, B.; van den Engh, G.; Van Dilla, M.A.

    1986-07-16

    Flow cytometry and sorting are becoming increasingly useful as tools for chromosome classfication and for the detection of numerical and structural chromosome aberrations. Chromosomes of a single type can be purified with these tools to facilitate gene mapping or production of chromosome specific recombinant DNA libraries. For analysis of chromosomes with flow cytometry, the chromosomes are extracted from mitotic cells, stained with one or more fluorescent dyes and classified one-by-one according to their dye content(s). Thus, the flow approach is fundamentally different than conventional karyotyping where chromosomes are classified within the context of a metaphase spread. Flow sorting allows purification of chromosomes that can be distinguished flow cytometrically. The authors describe the basic principles of flow cytometric chromosome classification i.e. flow karyotyping, and chromosome sorting and describe several applications. 30 refs., 8 figs.

  2. Flow karyotyping and flow instrumentation development. Final report

    Energy Technology Data Exchange (ETDEWEB)

    GEngh, G.J. van den

    1997-11-01

    The project had three major aims: improvement of technology for high-speed cell and chromosome sorting; the use of such instrumentation in genome analysis; applying the principles developed and the lessons learned to automated processes for the genome program. The work was a continuation of studies that were started at the Lawrence Livermore National Laboratory before the PI moved to the University of Washington. At Livermore, a high-speed sorter for the selection of human chromosomes was built. The instrument incorporated Livermore`s advanced sorter technology. The engineering focused on improving robustness and reliability so that the full potential of high-speed sorting would become available to the biological research laboratory. The new instrument, dubbed MoFlo for modular flow cytometer, proved to be a very practical and efficient tool during the chromosome isolation phase of the gene-library project. Its reliability and ease of operation exceeded that of the commercial instruments. The technology was licensed to two companies.

  3. A new spreadsheet method for the analysis of bivariate flow cytometric data

    Directory of Open Access Journals (Sweden)

    Isacke Clare M

    2004-03-01

    Using the attached spreadsheets and instructions, a simple post-acquisition method for analysing bivariate flow cytometry data is provided. This method constitutes a straightforward improvement over the standard graphical output of flow cytometric data and has the significant advantage that ligand binding can be compared between cell populations irrespective of receptor expression levels.

  4. Bivariate flow cytometric analysis of DNA content versus immunopositivity for ribonucleotide reductase M1 subunit in the cell cycle.

    Science.gov (United States)

    Mangiarotti, R; Bottone, M G; Danova, M; Pellicciari, C

    1998-06-01

    Ribonucleotide reductase (RR) is a cytoplasmatic enzyme catalyzing the reduction of all four ribonucleotides to their corresponding deoxyribonucleotides. Its activity strongly correlates to the rate of DNA synthesis. By using a specific monoclonal antibody against the large M1 subunit of RR, we assessed the expression of M1-RR versus DNA content by dual-parameter flow cytometry. The aim of this paper was to compare the variations in the immunopositivity for M1-RR during the cell cycle to the positivity for other cell cycle markers identifying either proliferating cells (Ki-67 and PCNA) or quiescent cells (statin). To do this, normal human embryonic fibroblasts in different growth conditions as well as several other mammalian cell lines (rat C6 glioma cells; mouse 3T3 fibroblasts and B16 melanoma cells; human epithelial EUE cells and mammary carcinoma MCF-7 cells) were used. The expression of M1-RR antigen was found to correlate positively with the expression of Ki-67 and PCNA, and negatively with the expression of statin. During early G1 phase, M1-RR becomes detectable by specific antibodies relatively later compared to PCNA and Ki-67; therefore, the lack of immunopositivity for M1-RR cannot be taken as an absolute indication of cell quiescence in G0.

  5. Ordinal Bivariate Inequality

    DEFF Research Database (Denmark)

    Sonne-Schmidt, Christoffer Scavenius; Tarp, Finn; Østerdal, Lars Peter Raahave

    2016-01-01

    This paper introduces a concept of inequality comparisons with ordinal bivariate categorical data. In our model, one population is more unequal than another when they have common arithmetic median outcomes and the first can be obtained from the second by correlation-increasing switches and...

  6. Biclonal low grade B-cell lymphoma confirmed by both flow cytometry and karyotypic analysis, in spite of a normal kappa/lambda Ig light chain ratio.

    Science.gov (United States)

    Delville, J P; Heimann, P; El Housni, H; Boutriaux, M; Jeronnez, A; Remmelink, M; Lasudry, J; Pradier, O; Kentos, A

    2007-06-01

    Composite low grade lymphoma with two subpopulations in a same site is uncommon. We herewith report the case of an 80-year-old woman who presented with isolated bilateral dacryoadenomegaly. Pathological examination of an incisional biopsy of her right lacrimal gland was consistent with a marginal zone lymphoma. Flow cytometry immunophenotyping showed two distinct clonal B-cell populations expressing sIg D lambda or sIg M kappa restriction in the lacrimal gland, blood, and bone marrow. Both B-cells populations were sorted from peripheral blood for molecular biology investigations and comparison with molecular data performed on tumor and bone marrow cells. IgH PCR performed on purified blood populations disclosed two monoclonal peaks: 98 bp-sized peak in the sIg M kappa and a 107 bp in the sIg D lambda clones, respectively. The lacrimal gland tumor expressed mainly sIg M kappa population, and showed a major 98 bp-sized peak coexisting with a very minor 107 bp peak. Cytogenetic studies showed a 46, XX,del (7) (q22q32) karyotype. Bone marrow examination at diagnosis revealed the same B-cell clones distribution than the one observed in blood with a dominant sIg D lambda population, a Genescan profile showing a major peak of 107 bp and a minor peak of 98 bp. Chromosomal analysis disclosed a 46,XX,del (10) (?p14) karyotype without detectable 7q deletion. To our knowledge, this observation represents the first reported case of biclonal low grade lymphoma hidden behind a normal classical kappa/lambda Ig light chain ratio in blood, but clearly demonstrated by the combination of three ancillary techniques (flow cytometry both analytical and cell sorting, molecular biology, and cytogenetics) and analysis of different tissues (i.e., in this case, lacrimal gland biopsy, blood, and bone marrow).

  7. Morgenstern type bivariate Lindley Distribution

    OpenAIRE

    V S Vaidyanathan; Sharon Varghese, A

    2016-01-01

    In this paper, a bivariate Lindley distribution using Morgenstern approach is proposed which can be used for modeling bivariate life time data. Some characteristics of the distribution like moment generating function, joint moments, Pearson correlation coefficient, survival function, hazard rate function, mean residual life function, vitality function and stress-strength parameter R=Pr(Y

  8. Statistical Modeling of Bivariate Data.

    Science.gov (United States)

    1982-08-01

    end identify by lock nsum br) joint density-quantile function, dependence-density, non-parametric bivariate density estimation, entropy , exponential...estimated, by autoregressive or exponential model estimators I with maximum entropy properties, is investigated in this thesis. The results provide...important and useful procedures for nonparametric bivariate density estimation. The thesis discusses estimators of the entropy H(d) of ul2) which seem to me

  9. Interactive Karyotyping Training

    Directory of Open Access Journals (Sweden)

    Ashwin Kotwaliwale

    2013-01-01

    Full Text Available Despite the wide use of newer techniques in genetic diagnostics, there remains a need for technologists to learn human chromosome morphology, identify abnormal metaphases and report clinical abnormalities. Global short age of cytogenetic trainers and a time consuming training process makes Karyotyping training difficult. We have developed a web based interactive Karyotyping training tool, KaryoTutor©, that allows technologists to learn karyotyping in an interactive environment and aids the trainer in the training process. KaryoTutor©provides visual clues for identifying abnormal chromosomes, provides instant test scores and includes a reference library of ideograms,sample chromosome images and reference materials. Trainees are able to recursively work on a case till a satisfactory result is achieved,with KaryoTutor providing interactive inputs.Additionally, trainers can assign cases and monitor trainee progress using audit trail management and other administrative features.

  10. Bivariate value-at-risk

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    Giuseppe Arbia

    2007-10-01

    Full Text Available In this paper we extend the concept of Value-at-risk (VaR to bivariate return distributions in order to obtain measures of the market risk of an asset taking into account additional features linked to downside risk exposure. We first present a general definition of risk as the probability of an adverse event over a random distribution and we then introduce a measure of market risk (b-VaR that admits the traditional b of an asset in portfolio management as a special case when asset returns are normally distributed. Empirical evidences are provided by using Italian stock market data.

  11. Statistical Test for Bivariate Uniformity

    Directory of Open Access Journals (Sweden)

    Zhenmin Chen

    2014-01-01

    Full Text Available The purpose of the multidimension uniformity test is to check whether the underlying probability distribution of a multidimensional population differs from the multidimensional uniform distribution. The multidimensional uniformity test has applications in various fields such as biology, astronomy, and computer science. Such a test, however, has received less attention in the literature compared with the univariate case. A new test statistic for checking multidimensional uniformity is proposed in this paper. Some important properties of the proposed test statistic are discussed. As a special case, the bivariate statistic test is discussed in detail in this paper. The Monte Carlo simulation is used to compare the power of the newly proposed test with the distance-to-boundary test, which is a recently published statistical test for multidimensional uniformity. It has been shown that the test proposed in this paper is more powerful than the distance-to-boundary test in some cases.

  12. GLOBAL SMOOTHNESS PRESERVATION BY BIVARIATE INTERPOLATION OPERATORS

    Institute of Scientific and Technical Information of China (English)

    S.G.Gal; J.Szabados

    2003-01-01

    Extending the results of [4] in the univariate case, in this paper we prove that the bivariate interpolation polynomials of Hermite-Fejer based on the Chebyshev nodes of the first kind, those of Lagrange based on the Chebyshev nodes of second kind and ± 1, and those of bivariate Shepard operators, have the property of partial preservation of global smoothness, with respect to various bivariate moduli of continuity.

  13. Classical cytogenetics: karyotyping techniques.

    Science.gov (United States)

    Bates, Steven E

    2011-01-01

    Classical cytogenetics by karyotyping has been utilized in clinical research laboratories for more than 50 years and remains the key method used in the stem cell laboratory to assess the genetic stability of stem cell cultures. It is currently the most readily accessible method for detecting chromosomal abnormalities in pluripotent stem cell cultures. This chapter will describe (1) how to prepare a culture to maximize the number of metaphase cells, (2) how to prepare slides containing chromosome spreads (3) methods used to stain chromosomes, and (4) how to interpret the cytogenetic report.

  14. A new bivariate negative binomial regression model

    Science.gov (United States)

    Faroughi, Pouya; Ismail, Noriszura

    2014-12-01

    This paper introduces a new form of bivariate negative binomial (BNB-1) regression which can be fitted to bivariate and correlated count data with covariates. The BNB regression discussed in this study can be fitted to bivariate and overdispersed count data with positive, zero or negative correlations. The joint p.m.f. of the BNB1 distribution is derived from the product of two negative binomial marginals with a multiplicative factor parameter. Several testing methods were used to check overdispersion and goodness-of-fit of the model. Application of BNB-1 regression is illustrated on Malaysian motor insurance dataset. The results indicated that BNB-1 regression has better fit than bivariate Poisson and BNB-2 models with regards to Akaike information criterion.

  15. A family of bivariate Pareto distributions

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    P. G. Sankaran

    2014-06-01

    Full Text Available Pareto distributions have been extensively used in literature for modelling and analysis of income and lifetime data. In the present paper, we introduce a family of bivariate Pareto distributions using a generalized version of dullness property. Some important bivariate Pareto distributions are derived as special cases. Distributional properties of the family are studied. The dependency structure of the family is investigated. Finally, the family of distributions is applied to two real life data situation

  16. Clinical utility of skin karyotype

    Directory of Open Access Journals (Sweden)

    Luiza E. Dorfman

    2015-08-01

    Full Text Available ABSTRACTWe report the case of a patient with Patau syndrome, diagnosed by skin karyotype, emphasizing the applications and importance of this test. The pregnancy morphology ultrasound showed face defects and of central nervous system and heart chambers asymmetry. In the postnatal evaluation it was identified microcephaly, single central nostril, and other malformations. We performed skin karyotype that resulted in full trisomy 13. Our report highlights the possibility of performing karyotype examination in cases when it is no longer possible to obtain a blood sample, thus providing the correct diagnosis and genetic counseling for the family.

  17. Incomplete Bivariate Fibonacci and Lucas -Polynomials

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    Dursun Tasci

    2012-01-01

    Full Text Available We define the incomplete bivariate Fibonacci and Lucas -polynomials. In the case =1, =1, we obtain the incomplete Fibonacci and Lucas -numbers. If =2, =1, we have the incomplete Pell and Pell-Lucas -numbers. On choosing =1, =2, we get the incomplete generalized Jacobsthal number and besides for =1 the incomplete generalized Jacobsthal-Lucas numbers. In the case =1, =1, =1, we have the incomplete Fibonacci and Lucas numbers. If =1, =1, =1, =⌊(−1/(+1⌋, we obtain the Fibonacci and Lucas numbers. Also generating function and properties of the incomplete bivariate Fibonacci and Lucas -polynomials are given.

  18. Flow cytometric detection of aberrant chromosomes

    Energy Technology Data Exchange (ETDEWEB)

    Gray, J.W.; Lucas, J.; Yu, L.C.; Langlois, R.

    1983-05-11

    This report describes the quantification of chromosomal aberrations by flow cytometry. Both homogeneously and heterogeneously occurring chromosome aberrations were studied. Homogeneously occurring aberrations were noted in chromosomes isolated from human colon carcinoma (LoVo) cells, stained with Hoechst 33258 and chromomycin A3 and analyzed using dual beam flow cytometry. The resulting bivariate flow karyotype showed a homogeneously occurring marker chromosome of intermediate size. Heterogeneously occurring aberrations were quantified by slit-scan flow cytometry in chromosomes isolated from control and irradiated Chinese hamster cells and stained with propidium iodide. Heterogeneously occurring dicentric chromosomes were detected by their shapes (two centrometers). The frequencies of such chromosomes estimated by slit-scan flow cytometry correlated well with the frequencies determined by visual microscopy.

  19. Characterizations of a family of bivariate Pareto distributions

    Directory of Open Access Journals (Sweden)

    P. G. Sankaran

    2015-09-01

    Full Text Available In the present paper, we study properties of a family of bivariate Pareto distributions. The well known dullness property of the univariate Pareto model is extended to the bivariate setup. Two measures of income inequality viz. income gap ratio and mean left proportional residual income are defined in the bivariate case. We also introduce bivariate generalized failure rate useful in reliability analysis. Characterizations, using the above concepts, for various members of the family of bivariate Pareto distributions are derived.

  20. BIVARIATE REAL-VALUED ORTHOGONAL PERIODIC WAVELETS

    Institute of Scientific and Technical Information of China (English)

    Qiang Li; Xuezhang Liang

    2005-01-01

    In this paper, we construct a kind of bivariate real-valued orthogonal periodic wavelets. The corresponding decomposition and reconstruction algorithms involve only 8 terms respectively which are very simple in practical computation. Moreover, the relation between periodic wavelets and Fourier series is also discussed.

  1. BIVARIATE FRACTAL INTERPOLATION FUNCTIONS ON RECTANGULAR DOMAINS

    Institute of Scientific and Technical Information of China (English)

    Xiao-yuan Qian

    2002-01-01

    Non-tensor product bivariate fractal interpolation functions defined on gridded rectangular domains are constructed. Linear spaces consisting of these functions are introduced.The relevant Lagrange interpolation problem is discussed. A negative result about the existence of affine fractal interpolation functions defined on such domains is obtained.

  2. Approximation of Bivariate Functions via Smooth Extensions

    Science.gov (United States)

    Zhang, Zhihua

    2014-01-01

    For a smooth bivariate function defined on a general domain with arbitrary shape, it is difficult to do Fourier approximation or wavelet approximation. In order to solve these problems, in this paper, we give an extension of the bivariate function on a general domain with arbitrary shape to a smooth, periodic function in the whole space or to a smooth, compactly supported function in the whole space. These smooth extensions have simple and clear representations which are determined by this bivariate function and some polynomials. After that, we expand the smooth, periodic function into a Fourier series or a periodic wavelet series or we expand the smooth, compactly supported function into a wavelet series. Since our extensions are smooth, the obtained Fourier coefficients or wavelet coefficients decay very fast. Since our extension tools are polynomials, the moment theorem shows that a lot of wavelet coefficients vanish. From this, with the help of well-known approximation theorems, using our extension methods, the Fourier approximation and the wavelet approximation of the bivariate function on the general domain with small error are obtained. PMID:24683316

  3. Reliability for some bivariate gamma distributions

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    Nadarajah Saralees

    2005-01-01

    Full Text Available In the area of stress-strength models, there has been a large amount of work as regards estimation of the reliability R=Pr( Xbivariate distribution with dependence between X and Y . In particular, we derive explicit expressions for R when the joint distribution is bivariate gamma. The calculations involve the use of special functions.

  4. Reliability for some bivariate beta distributions

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    Nadarajah Saralees

    2005-01-01

    Full Text Available In the area of stress-strength models there has been a large amount of work as regards estimation of the reliability R=Pr( Xbivariate distribution with dependence between X and Y . In particular, we derive explicit expressions for R when the joint distribution is bivariate beta. The calculations involve the use of special functions.

  5. Bivariate phase-rectified signal averaging

    CERN Document Server

    Schumann, Aicko Y; Bauer, Axel; Schmidt, Georg

    2008-01-01

    Phase-Rectified Signal Averaging (PRSA) was shown to be a powerful tool for the study of quasi-periodic oscillations and nonlinear effects in non-stationary signals. Here we present a bivariate PRSA technique for the study of the inter-relationship between two simultaneous data recordings. Its performance is compared with traditional cross-correlation analysis, which, however, does not work well for non-stationary data and cannot distinguish the coupling directions in complex nonlinear situations. We show that bivariate PRSA allows the analysis of events in one signal at times where the other signal is in a certain phase or state; it is stable in the presence of noise and impassible to non-stationarities.

  6. Covariate analysis of bivariate survival data

    Energy Technology Data Exchange (ETDEWEB)

    Bennett, L.E.

    1992-01-01

    The methods developed are used to analyze the effects of covariates on bivariate survival data when censoring and ties are present. The proposed method provides models for bivariate survival data that include differential covariate effects and censored observations. The proposed models are based on an extension of the univariate Buckley-James estimators which replace censored data points by their expected values, conditional on the censoring time and the covariates. For the bivariate situation, it is necessary to determine the expectation of the failure times for one component conditional on the failure or censoring time of the other component. Two different methods have been developed to estimate these expectations. In the semiparametric approach these expectations are determined from a modification of Burke's estimate of the bivariate empirical survival function. In the parametric approach censored data points are also replaced by their conditional expected values where the expected values are determined from a specified parametric distribution. The model estimation will be based on the revised data set, comprised of uncensored components and expected values for the censored components. The variance-covariance matrix for the estimated covariate parameters has also been derived for both the semiparametric and parametric methods. Data from the Demographic and Health Survey was analyzed by these methods. The two outcome variables are post-partum amenorrhea and breastfeeding; education and parity were used as the covariates. Both the covariate parameter estimates and the variance-covariance estimates for the semiparametric and parametric models will be compared. In addition, a multivariate test statistic was used in the semiparametric model to examine contrasts. The significance of the statistic was determined from a bootstrap distribution of the test statistic.

  7. Development of a two-parameter slit-scan flow cytometer for screening of normal and aberrant chromosomes: application to a karyotype of Sus scrofa domestica (pig)

    Science.gov (United States)

    Hausmann, Michael; Doelle, Juergen; Arnold, Armin; Stepanow, Boris; Wickert, Burkhard; Boscher, Jeannine; Popescu, Paul C.; Cremer, Christoph

    1992-07-01

    Laser fluorescence activated slit-scan flow cytometry offers an approach to a fast, quantitative characterization of chromosomes due to morphological features. It can be applied for screening of chromosomal abnormalities. We give a preliminary report on the development of the Heidelberg slit-scan flow cytometer. Time-resolved measurement of the fluorescence intensity along the chromosome axis can be registered simultaneously for two parameters when the chromosome axis can be registered simultaneously for two parameters when the chromosome passes perpendicularly through a narrowly focused laser beam combined by a detection slit in the image plane. So far automated data analysis has been performed off-line on a PC. In its final performance, the Heidelberg slit-scan flow cytometer will achieve on-line data analysis that allows an electro-acoustical sorting of chromosomes of interest. Interest is high in the agriculture field to study chromosome aberrations that influence the size of litters in pig (Sus scrofa domestica) breeding. Slit-scan measurements have been performed to characterize chromosomes of pigs; we present results for chromosome 1 and a translocation chromosome 6/15.

  8. Evolutionary dynamics of mammalian karyotypes

    Directory of Open Access Journals (Sweden)

    Carlo Alberto Redi

    2012-12-01

    Full Text Available This special volume of Cytogenetic and Genome Research (edited by Roscoe Stanyon, University of Florence and Alexander Graphodatsky, Siberian division of the Russian Academy of Sciences is dedicated to the fascinating long search of the forces behind the evolutionary dynamics of mammalian karyotypes, revealed after the hypotonic miracle of the 1950s....

  9. Characterizations of some bivariate models using reciprocal coordinate subtangents

    OpenAIRE

    Sreenarayanapurath Madhavan Sunoj; Sreejith Thoppil Bhargavan; Jorge Navarro

    2014-01-01

    In the present paper, we consider the bivariate version of reciprocal coordinate subtangent (RCST) and study its usefulness in characterizing some important bivariate models.  In particular, characterization results are proved for a general bivariate model whose conditional distributions are proportional hazard rate models (see Navarro and Sarabia, 2011), Sarmanov family and Ali-Mikhail-Haq family of bivariate distributions.  We also study the relationship between local dependence function an...

  10. The structure of bivariate rational hypergeometric functions

    CERN Document Server

    Cattani, Eduardo; Villegas, Fernando Rodriguez

    2009-01-01

    We describe the structure of all codimension-two lattice configurations $A$ which admit a stable rational $A$-hypergeometric function, that is a rational function $F$ all whose partial derivatives are non zero, and which is a solution of the $A$-hypergeometric system of partial differential equations defined by Gel'fand, Kapranov and Zelevinsky. We show, moreover, that all stable rational $A$-hypergeometric functions may be described by toric residues and apply our results to study the rationality of bivariate series whose coefficients are quotients of factorials of linear forms.

  11. APPROXIMATE SAMPLING THEOREM FOR BIVARIATE CONTINUOUS FUNCTION

    Institute of Scientific and Technical Information of China (English)

    杨守志; 程正兴; 唐远炎

    2003-01-01

    An approximate solution of the refinement equation was given by its mask, and the approximate sampling theorem for bivariate continuous function was proved by applying the approximate solution. The approximate sampling function defined uniquely by the mask of the refinement equation is the approximate solution of the equation, a piece-wise linear function, and posseses an explicit computation formula. Therefore the mask of the refinement equation is selected according to one' s requirement, so that one may controll the decay speed of the approximate sampling function.

  12. Spectral density regression for bivariate extremes

    KAUST Repository

    Castro Camilo, Daniela

    2016-05-11

    We introduce a density regression model for the spectral density of a bivariate extreme value distribution, that allows us to assess how extremal dependence can change over a covariate. Inference is performed through a double kernel estimator, which can be seen as an extension of the Nadaraya–Watson estimator where the usual scalar responses are replaced by mean constrained densities on the unit interval. Numerical experiments with the methods illustrate their resilience in a variety of contexts of practical interest. An extreme temperature dataset is used to illustrate our methods. © 2016 Springer-Verlag Berlin Heidelberg

  13. A bivariate chromatic polynomial for signed graphs

    CERN Document Server

    Beck, Matthias

    2012-01-01

    We study Dohmen--P\\"onitz--Tittmann's bivariate chromatic polynomial $c_\\Gamma(k,l)$ which counts all $(k+l)$-colorings of a graph $\\Gamma$ such that adjacent vertices get different colors if they are $\\le k$. Our first contribution is an extension of $c_\\Gamma(k,l)$ to signed graphs, for which we obtain an inclusion--exclusion formula and several special evaluations giving rise, e.g., to polynomials that encode balanced subgraphs. Our second goal is to derive combinatorial reciprocity theorems for $c_\\Gamma(k,l)$ and its signed-graph analogues, reminiscent of Stanley's reciprocity theorem linking chromatic polynomials to acyclic orientations.

  14. Characterizations of some bivariate models using reciprocal coordinate subtangents

    Directory of Open Access Journals (Sweden)

    Sreenarayanapurath Madhavan Sunoj

    2014-06-01

    Full Text Available In the present paper, we consider the bivariate version of reciprocal coordinate subtangent (RCST and study its usefulness in characterizing some important bivariate models.  In particular, characterization results are proved for a general bivariate model whose conditional distributions are proportional hazard rate models (see Navarro and Sarabia, 2011, Sarmanov family and Ali-Mikhail-Haq family of bivariate distributions.  We also study the relationship between local dependence function and reciprocal subtangent and a characterization result is proved for a bivariate model proposed by Jones (1998.  Further, the concept of reciprocal coordinate subtangent is extended to conditionally specified models.

  15. Karyotype instability in the ponerine ant genus Diacamma

    Indian Academy of Sciences (India)

    Nutan Karnik; H. Channaveerappa; H. A. Ranganath; Raghavendra Gadagkar

    2010-08-01

    The queenless ponerine ant Diacamma ceylonense and a population of Diacamma from the Nilgiri hills which we refer to as ‘nilgiri’, exhibit interesting similarities as well as dissimilarities. Molecular phylogenetic study of these morphologically almost similar taxa has shown that D. ceylonense is closely related to ‘nilgiri’ and indicates that ‘nilgiri’ is a recent diversion in the Diacamma phylogenetic tree. However, there is a striking behavioural difference in the way reproductive monopoly is maintained by the respective gamergates (mated egg laying workers), and there is evidence that they are genetically differentiated, suggesting a lack of gene flow. To develop a better understanding of the mechanism involved in speciation of Diacamma, we have analysed karyotypes of D. ceylonense and ‘nilgiri’. In both, we found surprising inter-individual and intra-individual karyotypic mosaicism. The observed numerical variability, both at intra-individual and inter-individual levels, does not appear to have hampered the sustainability of the chromosomal diversity in each population under study. Since the related D. indicum displays no such intra-individual or inter-individual variability whatsoever under identical experimental conditions, these results are unlikely to be artifacts. Although no known mechanisms can account for the observed karyotypic variability of this nature, we believe that the present findings on the ants under study would provide opportunities for exciting new discoveries concerning the origin, maintenance and significance of intra-individual and inter-individual karyotypic mosaicism.

  16. Bivariate Rayleigh Distribution and its Properties

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    Ahmad Saeed Akhter

    2007-01-01

    Full Text Available Rayleigh (1880 observed that the sea waves follow no law because of the complexities of the sea, but it has been seen that the probability distributions of wave heights, wave length, wave induce pitch, wave and heave motions of the ships follow the Rayleigh distribution. At present, several different quantities are in use for describing the state of the sea; for example, the mean height of the waves, the root mean square height, the height of the “significant waves” (the mean height of the highest one-third of all the waves the maximum height over a given interval of the time, and so on. At present, the ship building industry knows less than any other construction industry about the service conditions under which it must operate. Only small efforts have been made to establish the stresses and motions and to incorporate the result of such studies in to design. This is due to the complexity of the problem caused by the extensive variability of the sea and the corresponding response of the ships. Although the problem appears feasible, yet it is possible to predict service conditions for ships in an orderly and relatively simple manner Rayleigh (1980 derived it from the amplitude of sound resulting from many independent sources. This distribution is also connected with one or two dimensions and is sometimes referred to as “random walk” frequency distribution. The Rayleigh distribution can be derived from the bivariate normal distribution when the variate are independent and random with equal variances. We try to construct bivariate Rayleigh distribution with marginal Rayleigh distribution function and discuss its fundamental properties.

  17. A Universal Generator for Bivariate Log-Concave Distributions

    OpenAIRE

    Hörmann, Wolfgang

    1995-01-01

    Different universal (also called automatic or black-box) methods have been suggested to sample from univariate log-concave distributions. The description of a universal generator for bivariate distributions has not been published up to now. The new algorithm for bivariate log-concave distributions is based on the method of transformed density rejection. In order to construct a hat function for a rejection algorithm the bivariate density is transformed by the logarithm into a concave function....

  18. Karyotyping

    Science.gov (United States)

    ... growing baby (placenta) To test amniotic fluid, an amniocentesis is done. A bone marrow biopsy is needed ... the sample procedure is having blood drawn ( venipuncture ), amniocentesis, or bone marrow biopsy.

  19. A Robust Skin Colour Segmentation Using Bivariate Pearson Type IIαα (Bivariate Beta) Mixture Model

    OpenAIRE

    B.N.Jagadesh; Srinivasa Rao, K.; Ch.Satyanarayana

    2012-01-01

    Probability distributions formulate the basic framework for developing several segmentation algorithms. Among the various segmentation algorithms, skin colour segmentation is one of the most important algorithms for human computer interaction. Due to various random factors influencing the colour space, there does not exist a unique algorithm which serve the purpose of all images. In this paper a novel and new skin colour segmentation algorithms is proposed based on bivariate Pearson type I...

  20. Guidelines for molecular karyotyping in constitutional genetic diagnosis.

    NARCIS (Netherlands)

    Vermeesch, J.R.; Fiegler, H.; Leeuw, N. de; Szuhai, K.; Schoumans, J.; Ciccone, R.; Speleman, F.; Rauch, A.; Clayton-Smith, J.; Ravenswaaij-Arts, C.M.A. van; Sanlaville, D.; Patsalis, P.C.; Firth, H.; Devriendt, K.; Zuffardi, O.

    2007-01-01

    Array-based whole genome investigation or molecular karyotyping enables the genome-wide detection of submicroscopic imbalances. Proof-of-principle experiments have demonstrated that molecular karyotyping outperforms conventional karyotyping with regard to detection of chromosomal imbalances. This ar

  1. Guidelines for molecular karyotyping in constitutional genetic diagnosis

    NARCIS (Netherlands)

    Vermeesch, Joris Robert; Fiegler, Heike; de Leeuw, Nicole; Szuhai, Karoly; Schoumans, Jacqueline; Ciccone, Roberto; Speleman, Frank; Rauch, Anita; Clayton-Smith, Jill; Van Ravenswaaij, Conny; Sanlaville, Damien; Patsalis, Philippos C.; Firth, Helen; Devriendt, Koen; Zuffardi, Orsetta

    2007-01-01

    Array-based whole genome investigation or molecular karyotyping enables the genome-wide detection of submicroscopic imbalances. Proof-of-principle experiments have demonstrated that molecular karyotyping outperforms conventional karyotyping with regard to detection of chromosomal imbalances. This ar

  2. Karyotype Analysis Activity: A Constructivist Learning Design

    Science.gov (United States)

    Ahmed, Noveera T.

    2015-01-01

    This classroom activity is based on a constructivist learning design and engages students in physically constructing a karyotype of three mock patients. Students then diagnose the chromosomal aneuploidy based on the karyotype, list the symptoms associated with the disorder, and discuss the implications of the diagnosis. This activity is targeted…

  3. The bivariate Rogers Szegö polynomials

    Science.gov (United States)

    Chen, William Y. C.; Saad, Husam L.; Sun, Lisa H.

    2007-06-01

    We present an operator approach to deriving Mehler's formula and the Rogers formula for the bivariate Rogers-Szegö polynomials hn(x, y|q). The proof of Mehler's formula can be considered as a new approach to the nonsymmetric Poisson kernel formula for the continuous big q-Hermite polynomials Hn(x; a|q) due to Askey, Rahman and Suslov. Mehler's formula for hn(x, y|q) involves a 3phi2 sum and the Rogers formula involves a 2phi1 sum. The proofs of these results are based on parameter augmentation with respect to the q-exponential operator and the homogeneous q-shift operator in two variables. By extending recent results on the Rogers-Szegö polynomials hn(x|q) due to Hou, Lascoux and Mu, we obtain another Rogers-type formula for hn(x, y|q). Finally, we give a change of base formula for Hn(x; a|q) which can be used to evaluate some integrals by using the Askey-Wilson integral.

  4. The bivariate Rogers-Szegoe polynomials

    Energy Technology Data Exchange (ETDEWEB)

    Chen, William Y C [Center for Combinatorics, LPMC, Nankai University, Tianjin 300071 (China); Saad, Husam L [Center for Combinatorics, LPMC, Nankai University, Tianjin 300071 (China); Sun, Lisa H [Center for Combinatorics, LPMC, Nankai University, Tianjin 300071 (China)

    2007-06-08

    We present an operator approach to deriving Mehler's formula and the Rogers formula for the bivariate Rogers-Szegoe polynomials h{sub n}(x, y vertical bar q). The proof of Mehler's formula can be considered as a new approach to the nonsymmetric Poisson kernel formula for the continuous big q-Hermite polynomials H{sub n}(x; a vertical bar q) due to Askey, Rahman and Suslov. Mehler's formula for h{sub n}(x, y vertical bar q) involves a {sub 3}{phi}{sub 2} sum and the Rogers formula involves a {sub 2}{phi}{sub 1} sum. The proofs of these results are based on parameter augmentation with respect to the q-exponential operator and the homogeneous q-shift operator in two variables. By extending recent results on the Rogers-Szegoe polynomials h{sub n}(x vertical bar q) due to Hou, Lascoux and Mu, we obtain another Rogers-type formula for h{sub n}(x, y vertical bar q). Finally, we give a change of base formula for H{sub n}(x; a vertical bar q) which can be used to evaluate some integrals by using the Askey-Wilson integral.

  5. Characterizations of bivariate conic, extreme value, and Archimax copulas

    Directory of Open Access Journals (Sweden)

    Saminger-Platz Susanne

    2017-01-01

    Full Text Available Based on a general construction method by means of bivariate ultramodular copulas we construct, for particular settings, special bivariate conic, extreme value, and Archimax copulas. We also show that the sets of copulas obtained in this way are dense in the sets of all conic, extreme value, and Archimax copulas, respectively.

  6. The relative performance of bivariate causality tests in small samples

    NARCIS (Netherlands)

    Bult, J..R.; Leeflang, P.S.H.; Wittink, D.R.

    1997-01-01

    Causality tests have been applied to establish directional effects and to reduce the set of potential predictors, For the latter type of application only bivariate tests can be used, In this study we compare bivariate causality tests. Although the problem addressed is general and could benefit resea

  7. Bivariate Recursive Equations on Excess-of-loss Reinsurance

    Institute of Scientific and Technical Information of China (English)

    Jing Ping YANG; Shi Hong CHENG; Xiao Qian WANG

    2007-01-01

    This paper investigates bivariate recursive equations on excess-of-loss reinsurance.For an insurance portfolio, under the assumptions that the individual claim severity distribution has bounded continuous density and the number of claims belongs to R1(a,b) family, bivariate recursive equations for the joint distribution of the cedent's aggregate claims and the reinsurer's aggre gate claims are obtained.

  8. Stress-strength reliability for general bivariate distributions

    Directory of Open Access Journals (Sweden)

    Alaa H. Abdel-Hamid

    2016-10-01

    Full Text Available An expression for the stress-strength reliability R=P(X1bivariate distribution. Such distribution includes bivariate compound Weibull, bivariate compound Gompertz, bivariate compound Pareto, among others. In the parametric case, the maximum likelihood estimates of the parameters and reliability function R are obtained. In the non-parametric case, point and interval estimates of R are developed using Govindarajulu's asymptotic distribution-free method when X1 and X2 are dependent. An example is given when the population distribution is bivariate compound Weibull. Simulation is performed, based on different sample sizes to study the performance of estimates.

  9. Electrophoretic karyotype of Cercospora kikuchii.

    Science.gov (United States)

    Hightower, R C; Callahan, T M; Upchurch, R G

    1995-02-01

    Classical genetic analyses are not possible with the phytopathogenic fungus Cercospora kikuchii since no sexual stage has been identified. To facilitate gene mapping and to develop an understanding of the genome organization of C. kikuchii, an electrophoretic karyotype has been obtained using contour-clamped homogeneous electric field gel electrophoresis (CHEF). Eight chromosomes, two of which migrate as a doublet, have been separated into seven bands ranging from 2.0 to 5.5 Mb. Using this determination of chromosome number and size, the total genome size of C. kikuchii is estimated to be 28.4 Mb. In addition, genes encoding tubulin, ribosomal DNA, and four previously isolated light-enhanced cDNAs from C. kikuchii were assigned to chromosomes by Southern-hybridization analysis of CHEF blots.

  10. Dyadic Bivariate Wavelet Multipliers in L2(R2)

    Institute of Scientific and Technical Information of China (English)

    Zhong Yan LI; Xian Liang SHI

    2011-01-01

    The single 2 dilation wavelet multipliers in one-dimensional case and single A-dilation (where A is any expansive matrix with integer entries and |detA|=2)wavelet multipliers in twodimensional case were completely characterized by Wutam Consortium(1998)and Li Z.,et al.(2010).But there exist no results on multivariate wavelet multipliers corresponding to integer expansive dilation.matrix with the absolute value of determinant not 2 in L2(R2).In this paper,we choose 2I2=(0202)as the dilation matrix and consider the 2I2-dilation multivariate wavelet Ψ={ψ1,ψ2,ψ3}(which is called a dyadic bivariate wavelet)multipliers.Here we call a measurable function family f={f1,f2,f3}a dyadic bivariate wavelet multiplier if Ψ1={F-1(f1ψ1),F-1(f2ψ2),F-1(f3ψ3)} is a dyadic bivariate wavelet for any dyadic bivariate wavelet Ψ={ψ1,ψ2,ψ3},where(f)and,F-1 denote the Fourier transform and the inverse transform of function f respectively.We study dyadic bivariate wavelet multipliers,and give some conditions for dyadic bivariate wavelet multipliers.We also give concrete forms of linear phases of dyadic MRA bivariate wavelets.

  11. A Bivariate Analogue to the Composed Product of Polynomials

    Institute of Scientific and Technical Information of China (English)

    Donald Mills; Kent M. Neuerburg

    2003-01-01

    The concept of a composed product for univariate polynomials has been explored extensively by Brawley, Brown, Carlitz, Gao,Mills, et al. Starting with these fundamental ideas andutilizing fractional power series representation(in particular, the Puiseux expansion) of bivariate polynomials, we generalize the univariate results. We define a bivariate composed sum,composed multiplication,and composed product (based on function composition). Further, we investigate the algebraic structure of certain classes of bivariate polynomials under these operations. We also generalize a result of Brawley and Carlitz concerningthe decomposition of polynomials into irreducibles.

  12. Karyotype and genome size in Euterpe Mart. (Arecaceae) species

    Science.gov (United States)

    Oliveira, Ludmila Cristina; de Oliveira, Maria do Socorro Padilha; Davide, Lisete Chamma; Torres, Giovana Augusta

    2016-01-01

    Abstract Euterpe (Martius, 1823), a genus from Central and South America, has species with high economic importance in Brazil, because of their palm heart and fruits, known as açaí berries. Breeding programs have been conducted to increase yield and establish cultivation systems to replace the extraction of wild material. These programs need basic information about the genome of these species to better explore the available genetic variability. The aim of this study was to compare Euterpe edulis (Martius, 1824), Euterpe oleracea (Martius, 1824) and Euterpe precatoria (Martius, 1842), with regard to karyotype, type of interphase nucleus and nuclear DNA amount. Metaphase chromosomes and interphase nuclei from root tip meristematic cells were obtained by the squashing technique and solid stained for microscope analysis. The DNA amount was estimated by flow cytometry. There were previous reports on the chromosome number of Euterpe edulis and Euterpe oleracea, but chromosome morphology of these two species and the whole karyotype of Euterpe precatoria are reported for the first time. The species have 2n=36, a number considered as a pleisomorphic feature in Arecoideae since the modern species, according to floral morphology, have the lowest chromosome number (2n=28 and 2n=30). The three Euterpe species also have the same type of interphase nuclei, classified as semi-reticulate. The species differed on karyotypic formulas, on localization of secondary constriction and genome size. The data suggest that the main forces driving Euterpe karyotype evolution were structural rearrangements, such as inversions and translocations that alter chromosome morphology, and either deletion or amplification that led to changes in chromosome size. PMID:27186334

  13. Karyotypic characterization of Capsicum sp. accessions

    OpenAIRE

    Willame Rodrigues do Nascimento Souza; Angela Celis de Almeida; Reginaldo de Carvalho; Regina Lúcia Ferreira; Ana Paula Peron

    2015-01-01

    This study aimed to determine the chromosome number and the karyotype of Capsicum annuum, Capsicum chinense, Capsicum frutencens and Capsicum baccatum accessions in the active Capsicum sp. genebank at the Federal University of Piauí (BGC-UFPI). These species have great economic importance throughout the world, and their cytogenetic characterization can inform taxonomy and lead to improvement in the genus. Karyotypes were obtained from the rootlet meristems of the studied accessions using...

  14. Recursive Numerical Evaluation of the Cumulative Bivariate Normal Distribution

    CERN Document Server

    Meyer, Christian

    2010-01-01

    We propose an algorithm for evaluation of the cumulative bivariate normal distribution, building upon Marsaglia's ideas for evaluation of the cumulative univariate normal distribution. The algorithm is mathematically transparent, delivers competitive performance and can easily be extended to arbitrary precision.

  15. Cumulative Incidence Association Models for Bivariate Competing Risks Data.

    Science.gov (United States)

    Cheng, Yu; Fine, Jason P

    2012-03-01

    Association models, like frailty and copula models, are frequently used to analyze clustered survival data and evaluate within-cluster associations. The assumption of noninformative censoring is commonly applied to these models, though it may not be true in many situations. In this paper, we consider bivariate competing risk data and focus on association models specified for the bivariate cumulative incidence function (CIF), a nonparametrically identifiable quantity. Copula models are proposed which relate the bivariate CIF to its corresponding univariate CIFs, similarly to independently right censored data, and accommodate frailty models for the bivariate CIF. Two estimating equations are developed to estimate the association parameter, permitting the univariate CIFs to be estimated either parametrically or nonparametrically. Goodness-of-fit tests are presented for formally evaluating the parametric models. Both estimators perform well with moderate sample sizes in simulation studies. The practical use of the methodology is illustrated in an analysis of dementia associations.

  16. Approximation of bivariate copulas by patched bivariate Fréchet copulas

    KAUST Repository

    Zheng, Yanting

    2011-03-01

    Bivariate Fréchet (BF) copulas characterize dependence as a mixture of three simple structures: comonotonicity, independence and countermonotonicity. They are easily interpretable but have limitations when used as approximations to general dependence structures. To improve the approximation property of the BF copulas and keep the advantage of easy interpretation, we develop a new copula approximation scheme by using BF copulas locally and patching the local pieces together. Error bounds and a probabilistic interpretation of this approximation scheme are developed. The new approximation scheme is compared with several existing copula approximations, including shuffle of min, checkmin, checkerboard and Bernstein approximations and exhibits better performance, especially in characterizing the local dependence. The utility of the new approximation scheme in insurance and finance is illustrated in the computation of the rainbow option prices and stop-loss premiums. © 2010 Elsevier B.V.

  17. SHAPE-PRESERVING BIVARIATE POLYNOMIAL APPROXIMATION IN C([-1,1]×[-1,1])

    Institute of Scientific and Technical Information of China (English)

    Sorin G. Gal

    2002-01-01

    In this paper we construct bivariate polynomials attached to a bivariate function, that approximate with Jackson-type rate involving a bivariate Ditzian-Totik ω2-modulus of smoothness and preserve some natural kinds of bivariate monotonicity and convexity of function.The result extends that in univariate case-of D. Leviatan in [5-6], improves that in bivariate case of the author in [3] and in some special cases, that in bivariate case of G. Anastassiou in [1].

  18. Fast chromosome karyotyping by auction algorithm.

    Science.gov (United States)

    Wu, Xiaolin; Dumitrescu, Sorina; Biyani, Pravesh; Wu, Qiang

    2005-01-01

    We consider the problem of automated classification of human chromosomes or karyotyping and study discrete optimisation algorithms to solve the problem as one of joint maximum likelihood classification. We demonstrate that the auction algorithm offers a simpler and more efficient solution for chromosome karyotyping than the previously known transportation algorithm, while still guaranteeing global optimality. This improvement in algorithm efficiency is made possible by first casting chromosome karyotyping into a problem of optimal assignment and then exploiting the sparsity of the assignment problem due to the inherent properties of chromosome data. Furthermore, the auction algorithm also works when the chromosome data in a cell are incomplete due to the exclusion of overlapped or severely bent chromosomes, as often encountered in routine quality data.

  19. Chromosomal microarray versus karyotyping for prenatal diagnosis.

    Science.gov (United States)

    Wapner, Ronald J; Martin, Christa Lese; Levy, Brynn; Ballif, Blake C; Eng, Christine M; Zachary, Julia M; Savage, Melissa; Platt, Lawrence D; Saltzman, Daniel; Grobman, William A; Klugman, Susan; Scholl, Thomas; Simpson, Joe Leigh; McCall, Kimberly; Aggarwal, Vimla S; Bunke, Brian; Nahum, Odelia; Patel, Ankita; Lamb, Allen N; Thom, Elizabeth A; Beaudet, Arthur L; Ledbetter, David H; Shaffer, Lisa G; Jackson, Laird

    2012-12-06

    Chromosomal microarray analysis has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis. Samples from women undergoing prenatal diagnosis at 29 centers were sent to a central karyotyping laboratory. Each sample was split in two; standard karyotyping was performed on one portion and the other was sent to one of four laboratories for chromosomal microarray. We enrolled a total of 4406 women. Indications for prenatal diagnosis were advanced maternal age (46.6%), abnormal result on Down's syndrome screening (18.8%), structural anomalies on ultrasonography (25.2%), and other indications (9.4%). In 4340 (98.8%) of the fetal samples, microarray analysis was successful; 87.9% of samples could be used without tissue culture. Microarray analysis of the 4282 nonmosaic samples identified all the aneuploidies and unbalanced rearrangements identified on karyotyping but did not identify balanced translocations and fetal triploidy. In samples with a normal karyotype, microarray analysis revealed clinically relevant deletions or duplications in 6.0% with a structural anomaly and in 1.7% of those whose indications were advanced maternal age or positive screening results. In the context of prenatal diagnostic testing, chromosomal microarray analysis identified additional, clinically significant cytogenetic information as compared with karyotyping and was equally efficacious in identifying aneuploidies and unbalanced rearrangements but did not identify balanced translocations and triploidies. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and others; ClinicalTrials.gov number, NCT01279733.).

  20. Electrophoretic karyotypes of some related Mucor species.

    Science.gov (United States)

    Nagy, A; Palagyi, Z; Vastag, M; Ferenczy, L; Vágvölgyi, C

    2000-07-01

    Contour clamped homogeneous electric field (CHEF) gel electrophoresis was used to obtain electrophoretic karyotypes from nine Mucor strains representing five different species (M. bainieri, M. circinelloides, M. mucedo, M. plumbeus and M. racemosus). The chromosomal banding patterns revealed high variability among the isolates. The sizes of the DNA in the Mucor chromosomes were estimated to be between 2.5 and 8.7 Mb. The total genome sizes were calculated to be between 30.0 and 44.7 Mb. The applicability of these electrophoretic karyotypes for the investigation of genome structure, for strain identification and for species delimitation is considered.

  1. A new karyotype of Calomys (Rodentia, Sigmodontinae

    Directory of Open Access Journals (Sweden)

    Lima J. Fernando de S.

    2001-01-01

    Full Text Available The genus Calomys Waterhouse, 1837 is widely distributed within South America, being found in Venezuela, Colombia, Peru, Bolivia, Brazil, Paraguay, Uruguay and Argentina. Specimens of Calomys were collected in Formoso do Araguaia, Tocantins, Brazil. For chromosome characterization standard staining techniques and as G-banding and nucleolar organizer region were used. The karyotype was 2n=46 and AN=66. The X chromosome is a medium metacentric and the Y chromosome a small acrocentric chromosome. Chromosome homologies with other species were observed. Probably, karyotype differences were basically due to Robertsonian rearrangements.

  2. Simultaneous estimation of parameters in the bivariate Emax model.

    Science.gov (United States)

    Magnusdottir, Bergrun T; Nyquist, Hans

    2015-12-10

    In this paper, we explore inference in multi-response, nonlinear models. By multi-response, we mean models with m > 1 response variables and accordingly m relations. Each parameter/explanatory variable may appear in one or more of the relations. We study a system estimation approach for simultaneous computation and inference of the model and (co)variance parameters. For illustration, we fit a bivariate Emax model to diabetes dose-response data. Further, the bivariate Emax model is used in a simulation study that compares the system estimation approach to equation-by-equation estimation. We conclude that overall, the system estimation approach performs better for the bivariate Emax model when there are dependencies among relations. The stronger the dependencies, the more we gain in precision by using system estimation rather than equation-by-equation estimation.

  3. BIVARIATE LAGRANGE-TYPE VECTOR VALUED RATIONAL INTERPOLANTS

    Institute of Scientific and Technical Information of China (English)

    Chuan-qing Gu; Gong-qing Zhu

    2002-01-01

    An axiomatic definition to bivariate vector valued rational interpolation on distinct plane interpolation points is at first presented in this paper. A two-variable vector valued rational interpolation formula is explicitly constructed in the following form: the determinantal formulas for denominator scalar polynomials and for numerator vector polynomials,which possess Lagrange-type basic function expressions. A practical criterion of existence and uniqueness for interpolation is obtained. In contrast to the underlying method, the method of bivariate Thiele-type vector valued rational interpolation is reviewed.

  4. Interp olation by Bivariate Polynomials Based on Multivariate F-truncated Powers

    Institute of Scientific and Technical Information of China (English)

    Yuan Xue-mei

    2014-01-01

    The solvability of the interpolation by bivariate polynomials based on multivariate F-truncated powers is considered in this short note. It unifies the point-wise Lagrange interpolation by bivariate polynomials and the interpolation by bivari-ate polynomials based on linear integrals over segments in some sense.

  5. 47,XYY karyotype in acute myeloid leukemia.

    Science.gov (United States)

    Palanduz, S; Aktan, M; Ozturk, S; Tutkan, G; Cefle, K; Pekcelen, Y

    1998-10-01

    A case of acute myelomonocytic leukemia (AMMoL; M4) with a 47,XYY karyotype is reported. This chromosome aneuploidy was found in both bone marrow cells and mitogen-stimulated lymphocytes. The contribution of XYY chromosomal constitution in the pathogenesis of AMMoL is controversial.

  6. Bivariate Blending Thiele-Werner's Osculatory Rational Interpolation

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Both the expansive Newton's interpolating polynomial and the Thiele-Werner's interpolation are used to construct a kind of bivariate blending Thiele-Werner's osculatory rational interpolation. A recursive algorithm and its characteristic properties are given. An error estimation is obtained and a numerical example is illustrated.

  7. Bivariate support of forward libor and swap rates

    NARCIS (Netherlands)

    Jamshidian, Farshid

    2008-01-01

    Based on a certain notion of "prolific process," we find an explicit expression for the bivariate (topological) support of the solution to a particular class of 2 × 2 stochastic differential equations that includes those of the three-period "lognormal" Libor and swap market models. This yields that

  8. A vector of quarters representation for bivariate time series

    NARCIS (Netherlands)

    Ph.H.B.F. Franses (Philip Hans)

    1995-01-01

    textabstractIn this paper it is shown that several models for a bivariate nonstationary quarterly time series are nested in a vector autoregression with cointegration restrictions for the eight annual series of quarterly observations. Or, the Granger Representation Theorem is extended to incorporate

  9. mitants of Order Statistics from Bivariate Inverse Rayleigh Distribution

    Directory of Open Access Journals (Sweden)

    Muhammad Aleem

    2006-01-01

    Full Text Available The probability density function (pdf of the rth, 1 r n and joint pdf of the rth and sth, 1 rBivariate Inverse Rayleigh Distribution and their moments, product moments are obtained. Its percentiles are also obtained.

  10. The impact of rapid aneuploidy detection (RAD) in addition to karyotyping versus karyotyping on maternal quality of life

    NARCIS (Netherlands)

    Boormans, E. M. A.; Birnie, E.; Oepkes, D.; Bilardo, C. M.; Wildschut, H. I. J.; Creemers, J.; Bonsel, G. J.; van Lith, J. M. M.

    Objective To assess the impact of rapid aneuploidy detection (RAD) combined with fetal karyotyping versus karyotyping only on maternal anxiety and health-related quality of life. Methods Women choosing to undergo amniocentesis were selected into group 1, i.e. receiving a karyotype result only (n =

  11. The impact of rapid aneuploidy detection (RAD) in addition to karyotyping versus karyotyping on maternal quality of life

    NARCIS (Netherlands)

    Boormans, E. M. A.; Birnie, E.; Oepkes, D.; Bilardo, C. M.; Wildschut, H. I. J.; Creemers, J.; Bonsel, G. J.; van Lith, J. M. M.

    2010-01-01

    Objective To assess the impact of rapid aneuploidy detection (RAD) combined with fetal karyotyping versus karyotyping only on maternal anxiety and health-related quality of life. Methods Women choosing to undergo amniocentesis were selected into group 1, i.e. receiving a karyotype result only (n = 1

  12. On limit relations between some families of bivariate hypergeometric orthogonal polynomials

    Science.gov (United States)

    Area, I.; Godoy, E.

    2013-01-01

    In this paper we deal with limit relations between bivariate hypergeometric polynomials. We analyze the limit relation from trinomial distribution to bivariate Gaussian distribution, obtaining the limit transition from the second-order partial difference equation satisfied by bivariate hypergeometric Kravchuk polynomials to the second-order partial differential equation verified by bivariate hypergeometric Hermite polynomials. As a consequence the limit relation between both families of orthogonal polynomials is established. A similar analysis between bivariate Hahn and bivariate Appell orthogonal polynomials is also presented.

  13. The Application of Spectral Karyotyping in Leukemia

    Institute of Scientific and Technical Information of China (English)

    Bo Guo; Wanming Da; Xiaoping Han

    2006-01-01

    Spectral karyotyping (SKY) is a novel cytogenetic technique, which has been developed to unambiguously display and identify all 24 human chromosomes at one time without previous knowledge of any abnormalities involved. SKY can discern aberrations that fail to be easily detected by conventional banding techniques and by fluorescent in situ hybridization (FISH). Therefore SKY is highly accurate, highly sensitive, and highly prognostic. In this report the featurese and application of SKY in studies of leukemia are reviewed.

  14. Univariate and Bivariate Empirical Mode Decomposition for Postural Stability Analysis

    Directory of Open Access Journals (Sweden)

    Jacques Duchêne

    2008-05-01

    Full Text Available The aim of this paper was to compare empirical mode decomposition (EMD and two new extended methods of  EMD named complex empirical mode decomposition (complex-EMD and bivariate empirical mode decomposition (bivariate-EMD. All methods were used to analyze stabilogram center of pressure (COP time series. The two new methods are suitable to be applied to complex time series to extract complex intrinsic mode functions (IMFs before the Hilbert transform is subsequently applied on the IMFs. The trace of the analytic IMF in the complex plane has a circular form, with each IMF having its own rotation frequency. The area of the circle and the average rotation frequency of IMFs represent efficient indicators of the postural stability status of subjects. Experimental results show the effectiveness of these indicators to identify differences in standing posture between groups.

  15. Implementation of molecular karyotyping in clinical genetics

    Directory of Open Access Journals (Sweden)

    Luca Lovrecic

    2013-11-01

    Full Text Available Rapid development of technologies for the study of the human genome is an expected step after the discovery and sequencing of the entire human genome. Chromosomal microarrays, which allow us to perform tens of thousands of previously individual experiments simultaneously, are being utilized in all areas of human genetics and genomics. Initially, this was applicable only for research purposes, but in the last few years their clinical diagnostic purposes are becoming more and more relevant. Using molecular karyotyping (also chromosomal microarray, comparative genomic hybridization with microarray, aCGH, one can analyze microdeletions / microduplications in the whole human genome at once. It is a first-tier cytogenetic diagnostic test instead of G-banded karyotyping in patients with developmental delay and/or congenital anomalies. Molecular karyotyping is used as a diagnostic test in patients with unexplained developmental delay and/or idiopathic intellectual disability and/or dysmorphic features and/or multiple congenital anomalies (DD/ID/DF/MCA. In addition, the method is used in prenatal diagnostics and in some centres also in preimplantation genetic diagnosis.The aim of this paper is to inform the professional community in the field about this new diagnostic method and its implementation in Slovenia, and to define the clinical situations where the method is appropriate.

  16. Noninvasive prenatal molecular karyotyping from maternal plasma.

    Directory of Open Access Journals (Sweden)

    Stephanie C Y Yu

    Full Text Available Fetal DNA is present in the plasma of pregnant women. Massively parallel sequencing of maternal plasma DNA has been used to detect fetal trisomies 21, 18, 13 and selected sex chromosomal aneuploidies noninvasively. Case reports describing the detection of fetal microdeletions from maternal plasma using massively parallel sequencing have been reported. However, these previous reports were either polymorphism-dependent or used statistical analyses which were confined to one or a small number of selected parts of the genome. In this report, we reported a procedure for performing noninvasive prenatal karyotyping at 3 Mb resolution across the whole genome through the massively parallel sequencing of maternal plasma DNA. This method has been used to analyze the plasma obtained from 6 cases. In three cases, fetal microdeletions have been detected successfully from maternal plasma. In two cases, fetal microduplications have been detected successfully from maternal plasma. In the remaining case, the plasma DNA sequencing result was consistent with the pregnant mother being a carrier of a microduplication. Simulation analyses were performed for determining the number of plasma DNA molecules that would need to be sequenced and aligned for enhancing the diagnostic resolution of noninvasive prenatal karyotyping to 2 Mb and 1 Mb. In conclusion, noninvasive prenatal molecular karyotyping from maternal plasma by massively parallel sequencing is feasible and would enhance the diagnostic spectrum of noninvasive prenatal testing.

  17. Karyotypic characterization of Capsicum sp. accessions

    Directory of Open Access Journals (Sweden)

    Willame Rodrigues do Nascimento Souza

    2015-05-01

    Full Text Available This study aimed to determine the chromosome number and the karyotype of Capsicum annuum, Capsicum chinense, Capsicum frutencens and Capsicum baccatum accessions in the active Capsicum sp. genebank at the Federal University of Piauí (BGC-UFPI. These species have great economic importance throughout the world, and their cytogenetic characterization can inform taxonomy and lead to improvement in the genus. Karyotypes were obtained from the rootlet meristems of the studied accessions using the squash method and Giemsa staining. The chromosome number 2n=2x=24 was verified for each of the four species. Chromosomal polymorphisms were observed for the C. frutencens accession BGC 37, which presented 12 pairs of metacentric chromosomes instead of 11 pairs of metacentric chromosomes and 1 submetacentric chromosome pair present in other accessions. In the accessions BGC 01 and BGC 37, secondary constrictions were observed in the 1 and 12 as well as in the 6 and 11 homologs, respectively. The karyotypes of the studied species were asymmetrical among themselves. The results obtained in this study confirm the high genetic diversity previously described in the literature for this genus.

  18. Non-parametric causal inference for bivariate time series

    CERN Document Server

    McCracken, James M

    2015-01-01

    We introduce new quantities for exploratory causal inference between bivariate time series. The quantities, called penchants and leanings, are computationally straightforward to apply, follow directly from assumptions of probabilistic causality, do not depend on any assumed models for the time series generating process, and do not rely on any embedding procedures; these features may provide a clearer interpretation of the results than those from existing time series causality tools. The penchant and leaning are computed based on a structured method for computing probabilities.

  19. Numerical Integration Based on Bivariate Quartic Quasi-Interpolation Operators

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    In this paper, we propose a method to deal with numerical integral by using two kinds of C2 quasi-interpolation operators on the bivariate spline space, and also discuss the convergence properties and error estimates. Moreover, the proposed method is applied to the numerical evaluation of 2-D singular integrals. Numerical experiments will be carried out and the results will be compared with some previously published results.

  20. Individual karyotypes at the origins of cervical carcinomas.

    Science.gov (United States)

    McCormack, Amanda; Fan, Jiang Lan; Duesberg, Max; Bloomfield, Mathew; Fiala, Christian; Duesberg, Peter

    2013-10-17

    In 1952 Papanicolaou et al. first diagnosed and graded cervical carcinomas based on individual "abnormal DNA contents" and cellular phenotypes. Surprisingly current papilloma virus and mutation theories of carcinomas do not mention these individualities. The viral theory holds that randomly integrated, defective genomes of papilloma viruses, which are often untranscribed, cause cervical carcinomas with unknown cofactors 20-50 years after infection. Virus-free carcinomas are attributed to mutations of a few tumor-suppressor genes, especially the p53 gene. But the paradox of how a few mutations or latent defective viral DNAs would generate carcinomas with endless individual DNA contents, degrees of malignancies and cellular phenotypes is unsolved. Since speciation predicts individuality, we test here the theory that cancers are autonomous species with individual clonal karyotypes and phenotypes. This theory postulates that carcinogens induce aneuploidy. By unbalancing mitosis genes aneuploidy catalyzes chain reactions of karyotypic evolutions. Most such evolutions end with non-viable karyotypes but a few become new cancer karyotypes. Despite congenitally unbalanced mitosis genes cancer karyotypes are stabilized by clonal selections for cancer-specific autonomy. To test the prediction of the speciation theory that individual carcinomas have individual clonal karyotypes and phenotypes, we have analyzed here the phenotypes and karyotypes of nine cervical carcinomas. Seven of these contained papilloma virus sequences and two did not. We determined phenotypic individuality and clonality based on the morphology and sociology of carcinoma cells in vitro. Karyotypic individuality and clonality were determined by comparing all chromosomes of 20 karyotypes of carcinomas in three-dimensional arrays. Such arrays list chromosome numbers on the x-axis, chromosome copy numbers on the y-axis and the number of karyotypes arrayed on the z-axis. We found (1) individual clonal

  1. Reconciliation of size-density bivariate distributions over a separating node

    Institute of Scientific and Technical Information of China (English)

    Bidarahalli Venkoba Rao; Vivek Ganvir; Sirigeri Jois Gopalakrishna

    2008-01-01

    Data reconciliation considers the restoration of mass balance among the noise prone measured data by way of component adjustments for the various particle size or particle density classes or assays over the separating node. In this paper, the method of Lagrange multipliers has been extended to balance bivariate feed and product size-density distributions of coal particles split from a settling column. The settling suspension in the column was split into two product fractions at 40% height from the bottom after a minute settling of homogenized suspension at start. Reconciliation of data assists to estimate solid flow split of particles to the settled stream as well as helps to calculate the profiles of partition curves of the marginal particle size or particle density distributions. In general, Lagrange multiplier method with uniform weighting of its components may not guarantee a smooth partition surface and thus the reconciled data needs further refinement to establish the nature of the surface. In order to overcome this difficulty, a simple alternative method of reconciling bivariate size-density data using partition surface concept is explored in this paper.

  2. Variations in the Bivariate Brightness Distribution with different galaxy types

    CERN Document Server

    Cross, N; Lemon, D; Liske, J; Cross, Nicholas; Driver, Simon; Lemon, David; Liske, Jochen

    2002-01-01

    We present Bivariate Brightness Distributions (BBDs) for four spectral types discriminated by the 2dFGRS. We discuss the photometry and completeness of the 2dFGRS using a deep, wide-field CCD imaging survey. We find that there is a strong luminosity-surface brightness correlation amongst galaxies with medium to strong emission features, with gradient $\\beta_{\\mu}=0.25\\pm0.05$ and width $\\sigma_{\\mu}=0.56\\pm0.01$. Strong absorption line galaxies, show a bimodal distribution, with no correlation between luminosity and surface brightness.

  3. Modeling Bivariate Longitudinal Hormone Profiles by Hierarchical State Space Models.

    Science.gov (United States)

    Liu, Ziyue; Cappola, Anne R; Crofford, Leslie J; Guo, Wensheng

    2014-01-01

    The hypothalamic-pituitary-adrenal (HPA) axis is crucial in coping with stress and maintaining homeostasis. Hormones produced by the HPA axis exhibit both complex univariate longitudinal profiles and complex relationships among different hormones. Consequently, modeling these multivariate longitudinal hormone profiles is a challenging task. In this paper, we propose a bivariate hierarchical state space model, in which each hormone profile is modeled by a hierarchical state space model, with both population-average and subject-specific components. The bivariate model is constructed by concatenating the univariate models based on the hypothesized relationship. Because of the flexible framework of state space form, the resultant models not only can handle complex individual profiles, but also can incorporate complex relationships between two hormones, including both concurrent and feedback relationship. Estimation and inference are based on marginal likelihood and posterior means and variances. Computationally efficient Kalman filtering and smoothing algorithms are used for implementation. Application of the proposed method to a study of chronic fatigue syndrome and fibromyalgia reveals that the relationships between adrenocorticotropic hormone and cortisol in the patient group are weaker than in healthy controls.

  4. Bivariate correlation coefficients in family-type clustered studies.

    Science.gov (United States)

    Luo, Jingqin; D'Angela, Gina; Gao, Feng; Ding, Jimin; Xiong, Chengjie

    2015-11-01

    We propose a unified approach based on a bivariate linear mixed effects model to estimate three types of bivariate correlation coefficients (BCCs), as well as the associated variances between two quantitative variables in cross-sectional data from a family-type clustered design. These BCCs are defined at different levels of experimental units including clusters (e.g., families) and subjects within clusters and assess different aspects on the relationships between two variables. We study likelihood-based inferences for these BCCs, and provide easy implementation using standard software SAS. Unlike several existing BCC estimators in the literature on clustered data, our approach can seamlessly handle two major analytic challenges arising from a family-type clustered design: (1) many families may consist of only one single subject; (2) one of the paired measurements may be missing for some subjects. Hence, our approach maximizes the use of data from all subjects (even those missing one of the two variables to be correlated) from all families, regardless of family size. We also conduct extensive simulations to show that our estimators are superior to existing estimators in handling missing data or/and imbalanced family sizes and the proposed Wald test maintains good size and power for hypothesis testing. Finally, we analyze a real-world Alzheimer's disease dataset from a family clustered study to investigate the BCCs across different modalities of disease markers including cognitive tests, cerebrospinal fluid biomarkers, and neuroimaging biomarkers.

  5. Family-based bivariate association tests for quantitative traits.

    Directory of Open Access Journals (Sweden)

    Lei Zhang

    Full Text Available The availability of a large number of dense SNPs, high-throughput genotyping and computation methods promotes the application of family-based association tests. While most of the current family-based analyses focus only on individual traits, joint analyses of correlated traits can extract more information and potentially improve the statistical power. However, current TDT-based methods are low-powered. Here, we develop a method for tests of association for bivariate quantitative traits in families. In particular, we correct for population stratification by the use of an integration of principal component analysis and TDT. A score test statistic in the variance-components model is proposed. Extensive simulation studies indicate that the proposed method not only outperforms approaches limited to individual traits when pleiotropic effect is present, but also surpasses the power of two popular bivariate association tests termed FBAT-GEE and FBAT-PC, respectively, while correcting for population stratification. When applied to the GAW16 datasets, the proposed method successfully identifies at the genome-wide level the two SNPs that present pleiotropic effects to HDL and TG traits.

  6. Pregnancy complicated by triploidy: a comparison of the three karyotypes.

    Science.gov (United States)

    McWeeney, Dennis T; Munné, Santiago; Miller, Richard C; Cekleniak, Natalie A; Contag, Stephen A; Wax, Joseph R; Polzin, William J; Watson, William J

    2009-10-01

    We evaluated triploid pregnancy to determine whether there are clinically important differences between the three karyotypes: 69,XXX, 69,XXY, and 69,XYY. Prospectively maintained cytogenetic databases at five tertiary care centers were retrospectively reviewed over a 10-year period to identify all triploid pregnancies. Targeted ultrasounds were reviewed to identify fetal and placental findings. Sonographic findings were compared by karyotype. There was a total of 549 triploid gestations; preimplantation genetic diagnosis (PGD) detected 413 triploid embryos, and the cytogenetic databases provided 136 clinical pregnancies with triploidy. In triploid embryos with PGD, the frequency of the 69,XYY karyotype was 8.7% (36/413), compared with 0.74% (1/136) during the first trimester of clinical pregnancies (p = 0.002). In clinical pregnancies, 60% (36/60) of 69,XXY fetuses survived the first trimester of development compared with 69% (52/75) of 69,XXX fetuses (p = NS). No clinically important differences were observed between 69,XXX and 69,XXY karyotypes in terms of type, number, or severity of fetal or placental anomalies. Gestations with a 69,XYY karyotype are found less frequently compared with gestations with a 69,XXX or 69,XXY karyotype. The decline in fetal survival of the 69,XYY triploid karyotype needs further investigation. There are significant abnormalities detected during prenatal sonography in most all clinically recognized cases of triploidy. Sonography cannot reliably distinguish between the 69,XXY and 69,XXX karyotypes.

  7. Exploring Contemporary Issues in Genetics & Society: Karyotyping, Biological Sex, & Gender

    Science.gov (United States)

    Brown, Julie C.

    2013-01-01

    In this two-part activity, high school biology students examine human karyotyping, sex-chromosome-linked disorders, and the relationship between biological sex and gender. Through interactive simulations and a structured discussion lab, students create a human karyotype and diagnose chromosomal disorders in hypothetical patients, as well as…

  8. Parallel Patient Karyotype Information System using Multi-threads

    Directory of Open Access Journals (Sweden)

    Chantana CHANTRAPORNCHAI

    2015-09-01

    Full Text Available Human cytogenetic data are the typical laboratory results from hospitals. Karyogram is used to show the chromosome characteristics. The characteristics are written as karyotype strings. For a particular patient, there may be many records of karyotype strings due to several visits. These data for many patients are increasingly large and must be stored properly for further investigation and analysis. This research introduces the information system for the hospital for keeping the karyotypes of patients and applies the parallel method for searching required karyotypes, extracting related patient information. Particularly, we exploit the technology of Node.js with multithreads while splitting queries to search in parallel. The search method is integrated to the cytogenetic information system which is aimed to use for studying karyotypes of leukemia patients.

  9. THE JOINT DISTRIBUTION OF BIVARIATE EXPONENTIAL UNDER LINEARLY RELATED MODEL

    Directory of Open Access Journals (Sweden)

    Norou Diawara

    2010-09-01

    Full Text Available In this paper, fundamental results of the joint distribution of the bivariate exponential distributions are established.  The positive support multivariate distribution theory is important in reliability and survival analysis, and we applied it to the case where more than one failure or survival is observed in a given study. Usually, the multivariate distribution is restricted to those with marginal distributions of a specified and familiar lifetime family. The family of exponential distribution contains the absolutely continuous and discrete case models with a nonzero probability on a set of measure zero. Examples are given, and estimators are developed and applied to simulated data. Our findings generalize substantially known results in the literature, provide flexible and novel approach for modeling related events that can occur simultaneously from one based event.

  10. Recursively determined representing measures for bivariate truncated moment sequences

    CERN Document Server

    Curto, Raul E

    2012-01-01

    A theorem of Bayer and Teichmann implies that if a finite real multisequence \\beta = \\beta^(2d) has a representing measure, then the associated moment matrix M_d admits positive, recursively generated moment matrix extensions M_(d+1), M_(d+2),... For a bivariate recursively determinate M_d, we show that the existence of positive, recursively generated extensions M_(d+1),...,M_(2d-1) is sufficient for a measure. Examples illustrate that all of these extensions may be required to show that \\beta has a measure. We describe in detail a constructive procedure for determining whether such extensions exist. Under mild additional hypotheses, we show that M_d admits an extension M_(d+1) which has many of the properties of a positive, recursively generated extension.

  11. SNPMClust: Bivariate Gaussian Genotype Clustering and Calling for Illumina Microarrays

    Directory of Open Access Journals (Sweden)

    Stephen W. Erickson

    2016-07-01

    Full Text Available SNPMClust is an R package for genotype clustering and calling with Illumina microarrays. It was originally developed for studies using the GoldenGate custom genotyping platform but can be used with other Illumina platforms, including Infinium BeadChip. The algorithm first rescales the fluorescent signal intensity data, adds empirically derived pseudo-data to minor allele genotype clusters, then uses the package mclust for bivariate Gaussian model fitting. We compared the accuracy and sensitivity of SNPMClust to that of GenCall, Illumina's proprietary algorithm, on a data set of 94 whole-genome amplified buccal (cheek swab DNA samples. These samples were genotyped on a custom panel which included 1064 SNPs for which the true genotype was known with high confidence. SNPMClust produced uniformly lower false call rates over a wide range of overall call rates.

  12. Counterfactual Distributions in Bivariate Models—A Conditional Quantile Approach

    Directory of Open Access Journals (Sweden)

    Javier Alejo

    2015-11-01

    Full Text Available This paper proposes a methodology to incorporate bivariate models in numerical computations of counterfactual distributions. The proposal is to extend the works of Machado and Mata (2005 and Melly (2005 using the grid method to generate pairs of random variables. This contribution allows incorporating the effect of intra-household decision making in counterfactual decompositions of changes in income distribution. An application using data from five latin american countries shows that this approach substantially improves the goodness of fit to the empirical distribution. However, the exercise of decomposition is less conclusive about the performance of the method, which essentially depends on the sample size and the accuracy of the regression model.

  13. A bivariate limiting distribution of tumor latency time.

    Science.gov (United States)

    Rachev, S T; Wu, C; Yakovlev AYu

    1995-06-01

    The model of radiation carcinogenesis, proposed earlier by Klebanov, Rachev, and Yakovlev [8] substantiates the employment of limiting forms of the latent time distribution at high dose values. Such distributions arise within the random minima framework, the two-parameter Weibull distribution being a special case. This model, in its present form, does not allow for carcinogenesis at multiple sites. As shown in the present paper, a natural two-dimensional generalization of the model appears in the form of a Weibull-Marshall-Olkin distribution. Similarly, the study of a randomized version of the model based on the negative binomial minima scheme results in a bivariate Pareto-Marshall-Olkin distribution. In the latter case, an estimate for the rate of convergence to the limiting distribution is given.

  14. Efficient estimation of semiparametric copula models for bivariate survival data

    KAUST Repository

    Cheng, Guang

    2014-01-01

    A semiparametric copula model for bivariate survival data is characterized by a parametric copula model of dependence and nonparametric models of two marginal survival functions. Efficient estimation for the semiparametric copula model has been recently studied for the complete data case. When the survival data are censored, semiparametric efficient estimation has only been considered for some specific copula models such as the Gaussian copulas. In this paper, we obtain the semiparametric efficiency bound and efficient estimation for general semiparametric copula models for possibly censored data. We construct an approximate maximum likelihood estimator by approximating the log baseline hazard functions with spline functions. We show that our estimates of the copula dependence parameter and the survival functions are asymptotically normal and efficient. Simple consistent covariance estimators are also provided. Numerical results are used to illustrate the finite sample performance of the proposed estimators. © 2013 Elsevier Inc.

  15. KARYOTYPE STUDY IN PATIENTS WITH HEARING DISABILITY

    Directory of Open Access Journals (Sweden)

    Rajput H B

    2012-02-01

    Full Text Available Background: Hearing disability is the most common sensory disorder in humans. About 50% cases of congenital hearing loss are due to genetic causes. About 70% of genetic hearing loss is nonsyndromic and 30% is syndromic. Syndromic hearing loss is found as about 500 syndromes associated with chromosomal abnormalities. Genetic study of hearing loss include numerical chromosomal aberrations like trisomy 13, 18, 21 and structural chromosomal aberrations like deletion, translocation or invertion involving chromosome numbers 1, 2, 3, 5, 6, 7, 8,10,11, 12, 13, 15, 18, 21 and many more . Materials & Method: The aim of this study was to carry out a cytogenetic profile of 25 clinically diagnosed patients of hearing loss from school of deaf & dumb and from ENT clinics, Ahmedabad to find out the chromosomal abnormalities in these patients. Karyotypes of all the patients were prepared from peripheral venous blood & photographed at genetic laboratory at B.J.Medical College, Ahmedabad. Observations: Clinical & karyotype analysis revealed that out of 25 patients, 8 cases had positive family history of hearing loss. Positive history of consanguineous marriage was found in 6 patients. It was observed that 17(68% cases had isolated(non-syndromic hearing loss and 8(32% cases had syndromic deafness. Among 17(68% non-syndromic patients 13(52% cases showed normal chromosomal constitution and in 4(16% cases metaphase was not found and out of 8(32% patients with syndromic deafness, one female (4% & two males (8% had trisomy 21, one female (4% had monosomy of X chromosome and 4(16% cases showed normal chromosomal constitution. Conclusion: Cytogenetic pattern of hearing loss is variable among different studies.So, cytogenetic analysis of suspected hearing loss is of value to objectively confirm the diagnosis and to provide a basis for genetic counselling. [National J of Med Res 2012; 2(1.000: 89-92

  16. Congenital heart disease and chromossomopathies detected by the karyotype

    Directory of Open Access Journals (Sweden)

    Patrícia Trevisan

    2014-06-01

    Full Text Available OBJECTIVE: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype.DATA SOURCES: Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on.DATA SYNTHESIS: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of lesions. Several researchers have evaluated the presence of chromosomal abnormalities detected by the karyotype in patients with congenital heart disease. However, most of the articles were retrospective studies developed in Europe and only some of the studied patients had a karyotype exam. In this review, only one study was conducted in Latin America, in Brazil. It is known that chromosomal abnormalities are frequent, being present in about one in every ten patients with congenital heart disease. Among the karyotype alterations in these patients, the most important is the trisomy 21 (Down syndrome. These patients often have associated extra-cardiac malformations, with a higher risk of morbidity and mortality, which makes heart surgery even more risky.CONCLUSIONS: Despite all the progress made in recent decades in the field of cytogenetic, the karyotype remains an essential tool in order to evaluate patients with congenital heart disease. The detailed dysmorphological physical examination is of great importance to indicate the need of a karyotype.

  17. THE NORMAL BIVARIATE DENSITY FUNCTION AND ITS APPLICATIONS TO WEAPON SYSTEMS ANALYSIS, A REVIEW

    Science.gov (United States)

    The normal bivariate density function is derived from a priori considerations. It is discussed in terms of probability area in a plane, and as a...correlation surface. Several numerical methods of solving the normal bivariate distribution double integral are presented, and a curve is included for...given specific mathematical treatment. An Appendix examines the elliptical properties of normally correlated distributions. The investigation has resulted in a reference paper for the normal bivariate density function.

  18. THE INSTABILITY DEGREE IN THE DIEMNSION OF SPACES OF BIVARIATE SPLINE

    Institute of Scientific and Technical Information of China (English)

    Zhiqiang Xu; Renhong Wang

    2002-01-01

    In this paper, the dimension of the spaces of bivariate spline with degree less that 2r and smoothness order r on the Morgan-Scott triangulation is considered. The concept of the instability degree in the dimension of spaces of bivariate spline is presented. The results in the paper make us conjecture the instability degree in the dimension of spaces of bivariate spline is infinity.

  19. Estimation of flood design hydrographs using bivariate analysis (copula and distributed hydrological modelling

    Directory of Open Access Journals (Sweden)

    A. Candela

    2014-01-01

    Full Text Available In this paper a procedure to derive Flood Design Hydrographs (FDH using a bivariate representation of rainfall forcing (rainfall duration and intensity using copulas, which describe and model the correlation between these two variables independently of the marginal laws involved, coupled with a distributed rainfall-runoff model is presented. Rainfall-runoff modelling for estimating the hydrological response at the outlet of a watershed used a conceptual fully distributed procedure based on the soil conservation service – curve number method as excess rainfall model and a distributed unit hydrograph with climatic dependencies for the flow routing. Travel time computation, based on the definition of a distributed unit hydrograph, has been performed, implementing a procedure using flow paths determined from a digital elevation model (DEM and roughness parameters obtained from distributed geographical information. In order to estimate the return period of the FDH which give the probability of occurrence of a hydrograph flood peaks and flow volumes obtained through R-R modeling has been statistically treated via copulas. The shape of hydrograph has been generated on the basis of a modeled flood events, via cluster analysis. The procedure described above was applied to a case study of Imera catchment in Sicily, Italy. The methodology allows a reliable and estimation of the Design Flood Hydrograph and can be used for all the flood risk applications, i.e. evaluation, management, mitigation, etc.

  20. Dynamic karyotype evolution and unique sex determination systems in Leptidea wood white butterflies.

    Science.gov (United States)

    Šíchová, Jindra; Voleníková, Anna; Dincă, Vlad; Nguyen, Petr; Vila, Roger; Sahara, Ken; Marec, František

    2015-05-19

    Chromosomal rearrangements have the potential to limit the rate and pattern of gene flow within and between species and thus play a direct role in promoting and maintaining speciation. Wood white butterflies of the genus Leptidea are excellent models to study the role of chromosome rearrangements in speciation because they show karyotype variability not only among but also within species. In this work, we investigated genome architecture of three cryptic Leptidea species (L. juvernica, L. sinapis and L. reali) by standard and molecular cytogenetic techniques in order to reveal causes of the karyotype variability. Chromosome numbers ranged from 2n = 85 to 91 in L. juvernica and 2n = 69 to 73 in L. sinapis (both from Czech populations) to 2n = 51 to 55 in L. reali (Spanish population). We observed significant differences in chromosome numbers and localization of cytogenetic markers (rDNA and H3 histone genes) within the offspring of individual females. Using FISH with the (TTAGG) n telomeric probe we also documented the presence of multiple chromosome fusions and/or fissions and other complex rearrangements. Thus, the intraspecific karyotype variability is likely due to irregular chromosome segregation of multivalent meiotic configurations. The analysis of female meiotic chromosomes by GISH and CGH revealed multiple sex chromosomes: W1W2W3Z1Z2Z3Z4 in L. juvernica, W1W2W3Z1Z2Z3 in L. sinapis and W1W2W3W4Z1Z2Z3Z4 in L. reali. Our results suggest a dynamic karyotype evolution and point to the role of chromosomal rearrangements in the speciation of Leptidea butterflies. Moreover, our study revealed a curious sex determination system with 3-4 W and 3-4 Z chromosomes, which is unique in the Lepidoptera and which could also have played a role in the speciation process of the three Leptidea species.

  1. Karyotype evolution and species differentiation in the genus Rattus ...

    African Journals Online (AJOL)

    Dhananjoy

    Karyotype evolution and species differentiation in the genus Rattus of ... as primitive/ancestral types of chromosomes into either subtelocentric or small metacentrics leads to speciation or simply new ..... The features are quite common in the.

  2. Joint association analysis of bivariate quantitative and qualitative traits.

    Science.gov (United States)

    Yuan, Mengdie; Diao, Guoqing

    2011-11-29

    Univariate genome-wide association analysis of quantitative and qualitative traits has been investigated extensively in the literature. In the presence of correlated phenotypes, it is more intuitive to analyze all phenotypes simultaneously. We describe an efficient likelihood-based approach for the joint association analysis of quantitative and qualitative traits in unrelated individuals. We assume a probit model for the qualitative trait, under which an unobserved latent variable and a prespecified threshold determine the value of the qualitative trait. To jointly model the quantitative and qualitative traits, we assume that the quantitative trait and the latent variable follow a bivariate normal distribution. The latent variable is allowed to be correlated with the quantitative phenotype. Simultaneous modeling of the quantitative and qualitative traits allows us to make more precise inference on the pleiotropic genetic effects. We derive likelihood ratio tests for the testing of genetic effects. An application to the Genetic Analysis Workshop 17 data is provided. The new method yields reasonable power and meaningful results for the joint association analysis of the quantitative trait Q1 and the qualitative trait disease status at SNPs with not too small MAF.

  3. Bivariate Rainfall and Runoff Analysis Using Entropy and Copula Theories

    Directory of Open Access Journals (Sweden)

    Lan Zhang

    2012-09-01

    Full Text Available Multivariate hydrologic frequency analysis has been widely studied using: (1 commonly known joint distributions or copula functions with the assumption of univariate variables being independently identically distributed (I.I.D. random variables; or (2 directly applying the entropy theory-based framework. However, for the I.I.D. univariate random variable assumption, the univariate variable may be considered as independently distributed, but it may not be identically distributed; and secondly, the commonly applied Pearson’s coefficient of correlation (g is not able to capture the nonlinear dependence structure that usually exists. Thus, this study attempts to combine the copula theory with the entropy theory for bivariate rainfall and runoff analysis. The entropy theory is applied to derive the univariate rainfall and runoff distributions. It permits the incorporation of given or known information, codified in the form of constraints and results in a universal solution of univariate probability distributions. The copula theory is applied to determine the joint rainfall-runoff distribution. Application of the copula theory results in: (i the detection of the nonlinear dependence between the correlated random variables-rainfall and runoff, and (ii capturing the tail dependence for risk analysis through joint return period and conditional return period of rainfall and runoff. The methodology is validated using annual daily maximum rainfall and the corresponding daily runoff (discharge data collected from watersheds near Riesel, Texas (small agricultural experimental watersheds and Cuyahoga River watershed, Ohio.

  4. [Bivariate statistical model for calculating phosphorus input loads to the river from point and nonpoint sources].

    Science.gov (United States)

    Chen, Ding-Jiang; Sun, Si-Yang; Jia, Ying-Na; Chen, Jia-Bo; Lü, Jun

    2013-01-01

    Based on the hydrological difference between the point source (PS) and nonpoint source (NPS) pollution processes and the major influencing mechanism of in-stream retention processes, a bivariate statistical model was developed for relating river phosphorus load to river water flow rate and temperature. Using the calibrated and validated four model coefficients from in-stream monitoring data, monthly phosphorus input loads to the river from PS and NPS can be easily determined by the model. Compared to current hydrologica methods, this model takes the in-stream retention process and the upstream inflow term into consideration; thus it improves the knowledge on phosphorus pollution processes and can meet the requirements of both the district-based and watershed-based wate quality management patterns. Using this model, total phosphorus (TP) input load to the Changle River in Zhejiang Province was calculated. Results indicated that annual total TP input load was (54.6 +/- 11.9) t x a(-1) in 2004-2009, with upstream water inflow, PS and NPS contributing to 5% +/- 1%, 12% +/- 3% and 83% +/- 3%, respectively. The cumulative NPS TP input load during the high flow periods (i. e. , June, July, August and September) in summer accounted for 50% +/- 9% of the annual amount, increasing the alga blooming risk in downstream water bodies. Annual in-stream TP retention load was (4.5 +/- 0.1) t x a(-1) and occupied 9% +/- 2% of the total input load. The cumulative in-stream TP retention load during the summer periods (i. e. , June-September) accounted for 55% +/- 2% of the annual amount, indicating that in-stream retention function plays an important role in seasonal TP transport and transformation processes. This bivariate statistical model only requires commonly available in-stream monitoring data (i. e. , river phosphorus load, water flow rate and temperature) with no requirement of special software knowledge; thus it offers researchers an managers with a cost-effective tool for

  5. Asymptotics of bivariate generating functions with algebraic singularities

    Science.gov (United States)

    Greenwood, Torin

    Flajolet and Odlyzko (1990) derived asymptotic formulae the coefficients of a class of uni- variate generating functions with algebraic singularities. Gao and Richmond (1992) and Hwang (1996, 1998) extended these results to classes of multivariate generating functions, in both cases by reducing to the univariate case. Pemantle and Wilson (2013) outlined new multivariate ana- lytic techniques and used them to analyze the coefficients of rational generating functions. After overviewing these methods, we use them to find asymptotic formulae for the coefficients of a broad class of bivariate generating functions with algebraic singularities. Beginning with the Cauchy integral formula, we explicity deform the contour of integration so that it hugs a set of critical points. The asymptotic contribution to the integral comes from analyzing the integrand near these points, leading to explicit asymptotic formulae. Next, we use this formula to analyze an example from current research. In the following chapter, we apply multivariate analytic techniques to quan- tum walks. Bressler and Pemantle (2007) found a (d + 1)-dimensional rational generating function whose coefficients described the amplitude of a particle at a position in the integer lattice after n steps. Here, the minimal critical points form a curve on the (d + 1)-dimensional unit torus. We find asymptotic formulae for the amplitude of a particle in a given position, normalized by the number of steps n, as n approaches infinity. Each critical point contributes to the asymptotics for a specific normalized position. Using Groebner bases in Maple again, we compute the explicit locations of peak amplitudes. In a scaling window of size the square root of n near the peaks, each amplitude is asymptotic to an Airy function.

  6. Karyotype evolution in Rhinolophus bats (Rhinolophidae, Chiroptera) illuminated by cross-species chromosome painting and G-banding comparison.

    Science.gov (United States)

    Mao, Xiuguang; Nie, Wenhui; Wang, Jinhuan; Su, Weiting; Ao, Lei; Feng, Qing; Wang, Yingxiang; Volleth, Marianne; Yang, Fengtang

    2007-01-01

    Rhinolophus (Rhinolophidae) is the second most speciose genus in Chiroptera and has extensively diversified diploid chromosome numbers (from 2n = 28 to 62). In spite of many attempts to explore the karyotypic evolution of this genus, most studies have been based on conventional Giemsa staining rather than G-banding. Here we have made a whole set of chromosome-specific painting probes from flow-sorted chromosomes of Aselliscus stoliczkanus (Hipposideridae). These probes have been utilized to establish the first genome-wide homology maps among six Rhinolophus species with four different diploid chromosome numbers (2n = 36, 44, 58, and 62) and three species from other families: Rousettus leschenaulti (2n = 36, Pteropodidae), Hipposideros larvatus (2n = 32, Hipposideridae), and Myotis altarium (2n = 44, Vespertilionidae) by fluorescence in situ hybridization. To facilitate integration with published maps, human paints were also hybridized to A. stoliczkanus chromosomes. Our painting results substantiate the wide occurrence of whole-chromosome arm conservation in Rhinolophus bats and suggest that Robertsonian translocations of different combinations account for their karyotype differences. Parsimony analysis using chromosomal characters has provided some new insights into the Rhinolophus ancestral karyotype and phylogenetic relationships among these Rhinolophus species so far studied. In addition to Robertsonian translocations, our results suggest that whole-arm (reciprocal) translocations involving multiple non-homologous chromosomes as well could have been involved in the karyotypic evolution within Rhinolophus, in particular those bats with low and medium diploid numbers.

  7. Occurrence of multiple nucleolus organizer regions and intraspecific karyotype variation in Scaptotrigona xanthotricha Moure (Hymenoptera, Meliponini).

    Science.gov (United States)

    Duarte, O M P; Martins, C C C; Waldschmidt, A M; Costa, M A

    2009-07-21

    Scaptotrigona xanthotricha has a wide geographic distribution in the Brazilian Atlantic rainforest. One population from southeast and two from northeast Brazil were analyzed and were found to have chromosome polymorphisms. Although the chromosome number 2n = 34 is conserved in this species, karyotypic analysis revealed clear differences between the three populations. Congruent and ubiquitous multiple nucleolus organizer regions, heterochromatin and CMA(3)-positive blocks were found. The variations suggest that this species is in a process of genetic differentiation. This differentiation process might have been enhanced by restricted nesting preferences, combined with recent extensive fragmentation of the Atlantic rainforest, which limits gene flow between populations.

  8. Karyotype of cryopreserved bone marrow cells

    Directory of Open Access Journals (Sweden)

    M.L.L.F. Chauffaille

    2003-07-01

    Full Text Available The analysis of chromosomal abnormalities is important for the study of hematological neoplastic disorders since it facilitates classification of the disease. The ability to perform chromosome analysis of cryopreserved malignant marrow or peripheral blast cells is important for retrospective studies. In the present study, we compared the karyotype of fresh bone marrow cells (20 metaphases to that of cells stored with a simplified cryopreservation method, evaluated the effect of the use of granulocyte-macrophage colony-stimulating factor (GM-CSF as an in vitro mitotic index stimulator, and compared the cell viability and chromosome morphology of fresh and cryopreserved cells whenever possible (sufficient metaphases for analysis. Twenty-five bone marrow samples from 24 patients with hematological disorders such as acute myeloid leukemia, acute lymphoblastic leukemia, myelodysplastic syndrome, chronic myeloid leukemia, megaloblastic anemia and lymphoma (8, 3, 3, 8, 1, and 1 patients, respectively were selected at diagnosis, at relapse or during routine follow-up and one sample was obtained from a bone marrow donor after informed consent. Average cell viability before and after freezing was 98.8 and 78.5%, respectively (P < 0.05. Cytogenetic analysis was successful in 76% of fresh cell cultures, as opposed to 52% of cryopreserved samples (P < 0.05. GM-CSF had no proliferative effect before or after freezing. The morphological aspects of the chromosomes in fresh and cryopreserved cells were subjectively the same. The present study shows that cytogenetic analysis of cryopreserved bone marrow cells can be a reliable alternative when fresh cell analysis cannot be done, notwithstanding the reduced viability and lower percent of successful analysis that are associated with freezing.

  9. Karyotype versus microarray testing for genetic abnormalities after stillbirth.

    Science.gov (United States)

    Reddy, Uma M; Page, Grier P; Saade, George R; Silver, Robert M; Thorsten, Vanessa R; Parker, Corette B; Pinar, Halit; Willinger, Marian; Stoll, Barbara J; Heim-Hall, Josefine; Varner, Michael W; Goldenberg, Robert L; Bukowski, Radek; Wapner, Ronald J; Drews-Botsch, Carolyn D; O'Brien, Barbara M; Dudley, Donald J; Levy, Brynn

    2012-12-06

    Genetic abnormalities have been associated with 6 to 13% of stillbirths, but the true prevalence may be higher. Unlike karyotype analysis, microarray analysis does not require live cells, and it detects small deletions and duplications called copy-number variants. The Stillbirth Collaborative Research Network conducted a population-based study of stillbirth in five geographic catchment areas. Standardized postmortem examinations and karyotype analyses were performed. A single-nucleotide polymorphism array was used to detect copy-number variants of at least 500 kb in placental or fetal tissue. Variants that were not identified in any of three databases of apparently unaffected persons were then classified into three groups: probably benign, clinical significance unknown, or pathogenic. We compared the results of karyotype and microarray analyses of samples obtained after delivery. In our analysis of samples from 532 stillbirths, microarray analysis yielded results more often than did karyotype analysis (87.4% vs. 70.5%, P<0.001) and provided better detection of genetic abnormalities (aneuploidy or pathogenic copy-number variants, 8.3% vs. 5.8%; P=0.007). Microarray analysis also identified more genetic abnormalities among 443 antepartum stillbirths (8.8% vs. 6.5%, P=0.02) and 67 stillbirths with congenital anomalies (29.9% vs. 19.4%, P=0.008). As compared with karyotype analysis, microarray analysis provided a relative increase in the diagnosis of genetic abnormalities of 41.9% in all stillbirths, 34.5% in antepartum stillbirths, and 53.8% in stillbirths with anomalies. Microarray analysis is more likely than karyotype analysis to provide a genetic diagnosis, primarily because of its success with nonviable tissue, and is especially valuable in analyses of stillbirths with congenital anomalies or in cases in which karyotype results cannot be obtained. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development.).

  10. Bivariate at-site frequency analysis of simulated flood peak-volume data using copulas

    Science.gov (United States)

    Gaál, Ladislav; Viglione, Alberto; Szolgay, Ján.; Blöschl, Günter; Bacigál, Tomáå.¡

    2010-05-01

    In frequency analysis of joint hydro-climatological extremes (flood peaks and volumes, low flows and durations, etc.), usually, bivariate distribution functions are fitted to the observed data in order to estimate the probability of their occurrence. Bivariate models, however, have a number of limitations; therefore, in the recent past, dependence models based on copulas have gained increased attention to represent the joint probabilities of hydrological characteristics. Regardless of whether standard or copula based bivariate frequency analysis is carried out, one is generally interested in the extremes corresponding to low probabilities of the fitted joint cumulative distribution functions (CDFs). However, usually there is not enough flood data in the right tail of the empirical CDFs to derive reliable statistical inferences on the behaviour of the extremes. Therefore, different techniques are used to extend the amount of information for the statistical inference, i.e., temporal extension methods that allow for making use of historical data or spatial extension methods such as regional approaches. In this study, a different approach was adopted which uses simulated flood data by rainfall-runoff modelling, to increase the amount of data in the right tail of the CDFs. In order to generate artificial runoff data (i.e. to simulate flood records of lengths of approximately 106 years), a two-step procedure was used. (i) First, the stochastic rainfall generator proposed by Sivapalan et al. (2005) was modified for our purpose. This model is based on the assumption of discrete rainfall events whose arrival times, durations, mean rainfall intensity and the within-storm intensity patterns are all random, and can be described by specified distributions. The mean storm rainfall intensity is disaggregated further to hourly intensity patterns. (ii) Secondly, the simulated rainfall data entered a semi-distributed conceptual rainfall-runoff model that consisted of a snow routine

  11. Comparison of Model Reliabilities from Single-Step and Bivariate Blending Methods

    DEFF Research Database (Denmark)

    Taskinen, Matti; Mäntysaari, Esa; Lidauer, Martin;

    2013-01-01

    Model based reliabilities in genetic evaluation are compared between three methods: animal model BLUP, single-step BLUP, and bivariate blending after genomic BLUP. The original bivariate blending is revised in this work to better account animal models. The study data is extracted from the product......Model based reliabilities in genetic evaluation are compared between three methods: animal model BLUP, single-step BLUP, and bivariate blending after genomic BLUP. The original bivariate blending is revised in this work to better account animal models. The study data is extracted from...... the production trait evaluation of Nordic Red dairy cattle. Genotyped bulls with daughters are used as training animals, and genotyped bulls and producing cows as candidate animals. For simplicity, size of the data is chosen so that the full inverses of the mixed model equation coefficient matrices can...... be calculated. Model reliabilities by the single-step and the bivariate blending methods were higher than by animal model due to genomic information. Compared to the single-step method, the bivariate blending method reliability estimates were, in general, lower. Computationally bivariate blending method was...

  12. Bivariate ensemble model output statistics approach for joint forecasting of wind speed and temperature

    Science.gov (United States)

    Baran, Sándor; Möller, Annette

    2017-02-01

    Forecast ensembles are typically employed to account for prediction uncertainties in numerical weather prediction models. However, ensembles often exhibit biases and dispersion errors, thus they require statistical post-processing to improve their predictive performance. Two popular univariate post-processing models are the Bayesian model averaging (BMA) and the ensemble model output statistics (EMOS). In the last few years, increased interest has emerged in developing multivariate post-processing models, incorporating dependencies between weather quantities, such as for example a bivariate distribution for wind vectors or even a more general setting allowing to combine any types of weather variables. In line with a recently proposed approach to model temperature and wind speed jointly by a bivariate BMA model, this paper introduces an EMOS model for these weather quantities based on a bivariate truncated normal distribution. The bivariate EMOS model is applied to temperature and wind speed forecasts of the 8-member University of Washington mesoscale ensemble and the 11-member ALADIN-HUNEPS ensemble of the Hungarian Meteorological Service and its predictive performance is compared to the performance of the bivariate BMA model and a multivariate Gaussian copula approach, post-processing the margins with univariate EMOS. While the predictive skills of the compared methods are similar, the bivariate EMOS model requires considerably lower computation times than the bivariate BMA method.

  13. Strategies of karyotype differentiation in Elateridae (Coleoptera, Polyphaga).

    Science.gov (United States)

    Schneider, Marielle Cristina; Rosa, Simone Policena; Almeida, Mara Cristina; Costa, Cleide; Cella, Doralice Maria

    2007-01-01

    The chromosome study of five species of the family Elateridae, belonging to the subfamilies Agrypninae and Elaterinae, and the analysis of the cytogenetic data previously recorded for this family permitted the establishment of the main strategies of karyotypic differentiation that has occurred in the elaterids. In Agrypninae, the three species studied (Conoderus fuscofasciatus, Conoderus rufidens, and Conoderus sp.) showed the male karyotype 2n=16+X0. This karyotypic uniformity detected in these Conoderus species has also been shared with other species of the same genus, differing considerably from chromosomal heterogeneity verified in the subfamily Agrypninae. The use of the C-banding technique in C. fuscofasciatus and Conoderus sp. revealed constitutive heterochromatin in the pericentromeric region of the majority of the chromosomes. In C. fuscofasciatus, additional constitutive heterochromatin were also observed in the long arm terminal region of almost all chromosomes. Among the representatives of Elaterinae, the karyotype 2n=18+Xy(p) of Pomachilius sp.2 was similar to that verified in the majority of the Coleoptera species, contrasting with the chromosomal formula 2n=18+X0 detected in Cardiorhinus rufilateris, which is most common in the species of Elaterinae. In the majority of the elaterids, the chromosomal differentiation has frequently been driven by reduction of the diploid number; but, among the four cytogenetically examined subfamilies, there are some differences in relation to the trends of karyotypic evolution.

  14. Karyotypic analysis of intersexuality in Chinese from Taiyuan

    Institute of Scientific and Technical Information of China (English)

    Zhen-GuoMI; Xiao-FengYANG; TaoLAN

    2000-01-01

    Aim: To analyze the kayrotypic patterns of 33 cases of intersexuality in Chinese from Talyuan, China in order to further clarify its mechanism of development and the interrelationship between karyotype and phenotypic sex. Methods: High-resolution GTG-banding chromosome technique was used to analyze the karyotype patterns. Results: In these patients, 57.58% were male pseudohermaphrodites (46,XY), 18.18%, female pseudohermaphrodites (46, XX), 12.12%, true hemaphrodites, and 12.12%, other karyotypes. Although testes can be seen in 88.8% of karyotypes with Y chromosome, 73.68% of the patients were of female social sex. In 42.82% of patients the social sex is in conformity with their karyotypes. There were 2 cases of male pseudohermaphrodites, where the sex chromosome was normal, but abnormalities were found in chromosomes 9, 13, or 14. Conclusion: Sex chromosomes determine the direction of gonadal and sex differentiation, while the development of the normal gonad and external genitalia should have the participation of many autosomal chromosomes as well.

  15. Improved accuracy of hysteroembryoscopic biopsies for karyotyping early missed abortions.

    Science.gov (United States)

    Ferro, Jaime; Martínez, Ma Carmen; Lara, Coral; Pellicer, Antonio; Remohí, José; Serra, Vicente

    2003-11-01

    To assess the potential of direct embryo and chorion biopsies obtained by hysteroembryoscopy for karyotyping early missed abortions. Clinical prospective descriptive study. Instituto Valenciano de Infertilidad, Valencia, Spain. Sixty-eight women (71 gestational sacs) with missed abortions. The gestational age on ultrasound was 6.3 weeks (range, 4-10 weeks). Transcervical hysteroembryoscopy before curettage. Comparison between the cytogenetic results from hysteroembryoscopic biospies and those of the curettage material. Hysteroembryoscopic biopsies could be taken in 97.2% of the gestational sacs. Direct embryo and chorion biopsies were suitable for chromosomal analysis. Selective samples identified misdiagnoses of the conventional curettage karyotype due to maternal contaminating tissues in 22.2% of the cases. Direct hysteroembryoscopic biopsies also enabled the diagnosis of a true placental mosaicism and the study of the individual karyotype of each gestational sac in bizygotic twin missed abortions. In early missed abortions, karyotypes from direct hysteroembryoscopic biopsies were more accurate than those from the curettage material. The finding of a 46,XX karyotype in the curettage material is not a reliable result.

  16. Karyotype of three Lonchophylla species (Chiroptera, Phyllostomidae) from Southeastern Brazil

    Science.gov (United States)

    Almeida, Brunna; Novaes, Roberto Leonan Morim; Aguieiras, Marcia; Souza, Renan de França; Esbérard, Carlos Eduardo Lustosa; Geise, Lena

    2016-01-01

    Abstract Lonchophylla Thomas, 1903 is a Neotropical bat genus that comprises 12 species, with little cytogenetic information available. Here we present the description of the karyotype of three species collected in Southeastern Brazil. Lonchophylla bokermanni Sazima, Vizotto & Taddei, 1978, Lonchophylla dekeyseri Taddei, Vizotto & Sazima, 1983, and Lonchophylla peracchii Dias, Moratelli & Esberard, 2013 showed the same diploid number 2n = 28 and the same autosomal fundamental number FNa = 50, in both Lonchophylla bokermanni and Lonchophylla peracchii. We observed that the karyotypes were also cytogenetically similar when we compared the studied species with other species within the same genus. It is therefore not possible to differentiate the species using only karyotypes with conventional staining. However, this information increases the knowledge of the genus and can be one more important character for a better phylogenetic comprehension of this taxon. PMID:27186341

  17. Karyotype Learning Center: A Software For Teaching And Learning Cytogenetics

    Directory of Open Access Journals (Sweden)

    Joelma Freire De Mesquita

    2004-05-01

    Full Text Available The in vitro cultivation of human cells is an essential part of the work of every diagnostic cytoge-netics laboratory. Almost all human cytogenetic studies involve the examination of dividing bloodcell population by blocking cell division at metaphase with subsequent processing and staining bybanding techniques. The chromosome constitution is described as Karyotype that states the totalnumber of chromosomes and the sex chromosome constitution. Karyotypes are prepared by cuttingup a photograph of the spread metaphase chromosomes, matching up homologous chromosomes andsticking them back down on a card or nowadays more often by getting an image analysis computerto do the job. Chromosomes are identied by their size, centromere position and banding pattern.Teaching a student how to detect and interpret even the most common chromosome abnormaliti-es is a major challenge: mainly, in a developing country where the laboratorial facilities are notalways available for a big number of students. Therefore, in this work we present an educationalsoftware for teaching undergraduate students of Medical and Life Sciences Courses how to arrangenormal and abnormal chromosomes in the form of karyotype. The user, using drag-and-drop, is da-red to match up homologous chromosome. For that, we have developed a free full access web site(http://www.biomol.net/cariotipo/ for hosting the software. The latter has proved to be light andfast even under slow dial-up connections. This web site also oers a theoretical introductory sectionwith basic concepts about karyotype. Up to now the software has been successfully applied to un-dergraduate courses at the University of Rio de Janeiro (UNIRIO. The students have approved thesoftware; to them the similarities with the well-known game solitaire turns the exercise more excitingand provides additional stimulus to learn and understand karyotype. Professors have also used thesoftware as complementary material in their regular classes

  18. Block Based Bivariate Blending Rational Interpolation via Symmetric Branched Continued Fractions

    Institute of Scientific and Technical Information of China (English)

    Qianjin Zhao; Jieqing Tan

    2007-01-01

    This paper constructs a new kind of block based bivariate blending rational interpolation via symmetric branched continued fractions. The construction process may be outlined as follows. The first step is to divide the original set of support points into some subsets (blocks). Then construct each block by using symmetric branched continued fraction.Finally assemble these blocks by Newton's method to shape the whole interpolation scheme.Our new method offers many flexible bivariate blending rational interpolation schemes which include the classical bivariate Newton's polynomial interpolation and symmetric branched continued fraction interpolation as its special cases. The block based bivariate blending rational interpolation is in fact a kind of tradeoff between the purely linear interpolation and the purely nonlinear interpolation. Finally,numerical examples are given to show the effectiveness of the proposed method.

  19. Modified likelihood ratio test for homogeneity in bivariate normal mixtures with presence of a structural parameter

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    This paper investigates the asymptotic properties of the modified likelihood ratio statistic for testing homogeneity in bivariate normal mixture models with an unknown structural parameter. It is shown that the modified likelihood ratio statistic has χ22 null limiting distribution.

  20. Down syndrome child with 48,XXY,+21 karyotype

    Directory of Open Access Journals (Sweden)

    Cyrus Cyril

    2005-01-01

    Full Text Available Cytogenetic analysis in 60 clinically suspected cases of Down syndrome and their parents was carried out using conventional Giemsa-trypsin-banding technique. Fifty-five individuals (91% exhibited a free trisomy 21. Robertsonian translocations were seen in three cases and two cases exhibited a normal karyotype. A four-month-old child, the second-born of non-consanguineous parents, possessed an extra X chromosome in addition to trisomy 21. The proband′s parents and his brother showed a normal karyotype. The phenotypic characteristics of this child have been discussed in the light of the published reports on double aneuploidies of XXY and trisomy 21.

  1. Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.

    Science.gov (United States)

    Vermeesch, Joris R; Melotte, Cindy; Froyen, Guy; Van Vooren, Steven; Dutta, Binita; Maas, Nicole; Vermeulen, Stefan; Menten, Björn; Speleman, Frank; De Moor, Bart; Van Hummelen, Paul; Marynen, Peter; Fryns, Jean-Pierre; Devriendt, Koen

    2005-03-01

    Array CGH (comparative genomic hybridization) enables the identification of chromosomal copy number changes. The availability of clone sets covering the human genome opens the possibility for the widespread use of array CGH for both research and diagnostic purposes. In this manuscript we report on the parameters that were critical for successful implementation of the technology, assess quality criteria, and discuss the potential benefits and pitfalls of the technology for improved pre- and postnatal constitutional genetic diagnosis. We propose to name the genome-wide array CGH "molecular karyotyping," in analogy with conventional karyotyping that uses staining methods to visualize chromosomes.

  2. First karyotype data on the family Myerslopiidae (Hemiptera, Auchenorrhyncha, Cicadomorpha

    Directory of Open Access Journals (Sweden)

    Natalia Golub

    2014-11-01

    Full Text Available In the first cytogenetic study of the recently proposed family Myerslopiidae the male karyotype of Mapuchea chilensis (Nielson, 1996 was analyzed using conventional chromosome staining, AgNOR- and C-bandings, and fluorescence in situ hybridization (FISH with 18S rDNA and (TTAGGn telomeric probes. A karyotype of 2n = 16 + XY, NOR on a medium-sized pair of autosomes, subterminal location of C-heterochromatin, and presence of (TTAGGn telomeric sequence were determined. Additionally, the male internal reproductive system was studied.

  3. Evaluation dam overtopping risk based on univariate and bivariate flood frequency analysis

    OpenAIRE

    Goodarzi, E.; M. Mirzaei; L. T. Shui; Ziaei, M.

    2011-01-01

    There is a growing tendency to assess the safety levels of existing dams based on risk and uncertainty analysis using mathematical and statistical methods. This research presents the application of risk and uncertainty analysis to dam overtopping based on univariate and bivariate flood frequency analyses by applying Gumbel logistic distribution for the Doroudzan earth-fill dam in south of Iran. The bivariate frequency analysis resulted in six inflow hydrographs with a joint return period of 1...

  4. A simple powerful bivariate test for two sample location problems in experimental and observational studies

    OpenAIRE

    2010-01-01

    Abstract Background In many areas of medical research, a bivariate analysis is desirable because it simultaneously tests two response variables that are of equal interest and importance in two populations. Several parametric and nonparametric bivariate procedures are available for the location problem but each of them requires a series of stringent assumptions such as specific distribution, affine-invariance or elliptical symmetry. The aim of this study is to propose a powerful test statistic...

  5. Analysis of input variables of an artificial neural network using bivariate correlation and canonical correlation

    Energy Technology Data Exchange (ETDEWEB)

    Costa, Valter Magalhaes; Pereira, Iraci Martinez, E-mail: valter.costa@usp.b [Instituto de Pesquisas Energeticas e Nucleares (IPEN/CNEN-SP), Sao Paulo, SP (Brazil)

    2011-07-01

    The monitoring of variables and diagnosis of sensor fault in nuclear power plants or processes industries is very important because a previous diagnosis allows the correction of the fault and, like this, to prevent the production stopped, improving operator's security and it's not provoking economics losses. The objective of this work is to build a set, using bivariate correlation and canonical correlation, which will be the set of input variables of an artificial neural network to monitor the greater number of variables. This methodology was applied to the IEA-R1 Research Reactor at IPEN. Initially, for the input set of neural network we selected the variables: nuclear power, primary circuit flow rate, control/safety rod position and difference in pressure in the core of the reactor, because almost whole of monitoring variables have relation with the variables early described or its effect can be result of the interaction of two or more. The nuclear power is related to the increasing and decreasing of temperatures as well as the amount radiation due fission of the uranium; the rods are controls of power and influence in the amount of radiation and increasing and decreasing of temperatures; the primary circuit flow rate has the function of energy transport by removing the nucleus heat. An artificial neural network was trained and the results were satisfactory since the IEA-R1 Data Acquisition System reactor monitors 64 variables and, with a set of 9 input variables resulting from the correlation analysis, it was possible to monitor 51 variables. (author)

  6. Dyadic Bivariate Fourier Multipliers for Multi-Wavelets in L2(R2)

    Institute of Scientific and Technical Information of China (English)

    Zhongyan Li∗; Xiaodi Xu

    2015-01-01

    The single 2 dilation orthogonal wavelet multipliers in one dimensional case and single A-dilation (where A is any expansive matrix with integer entries and|detA|=2) wavelet multipliers in high dimensional case were completely characterized by the Wutam Consortium (1998) and Z. Y. Li, et al. (2010). But there exist no more results on orthogonal multivariate wavelet matrix multipliers corresponding integer expansive dilation matrix with the absolute value of determinant not 2 in L2(R2). In this paper, we choose as the dilation matrix and consider the 2I2-dilation orthogonal multivariate wavelet Y={y1,y2,y3}, (which is called a dyadic bivariate wavelet) multipliers. We call the 3×3 matrix-valued function A(s)=[ fi,j(s)]3×3, where fi,j are measurable functions, a dyadic bivariate matrix Fourier wavelet multiplier if the inverse Fourier transform of A(s)(cy1(s),cy2(s),cy3(s))⊤ = ( b g1(s), b g2(s), b g3(s))⊤ is a dyadic bivariate wavelet whenever (y1,y2,y3) is any dyadic bivariate wavelet. We give some conditions for dyadic matrix bivariate wavelet multipliers. The results extended that of Z. Y. Li and X. L. Shi (2011). As an application, we construct some useful dyadic bivariate wavelets by using dyadic Fourier matrix wavelet multipliers and use them to image denoising.

  7. Karyotype characterization and comparison of three hexaploid species of Bromus Linnaeus, 1753 (Poaceae)

    Science.gov (United States)

    Artico, Leonardo Luís; Mazzocato, Ana Cristina; Ferreira, Juliano Lino; Carvalho, Carlos Roberto; Clarindo, Wellington Ronildo

    2017-01-01

    Abstract Chromosome morphometry and nuclear DNA content are useful data for cytotaxonomy and to understand the evolutionary history of different taxa. For the genus Bromus Linnaeus, 1753, distinct ploidy levels have been reported, occurring from diploid to duodecaploid species. The geographic distribution of Bromus species has been correlated with chromosome number and ploidy level. In this study, the aims were to determine the nuclear genome size and characterize the karyotype of the South American Bromus species: Bromus auleticus Trinius ex Nees, 1829, Bromus brachyanthera Döll, 1878 and Bromus catharticus Vahl, 1791. The mean nuclear 2C value ranged from 2C = 12.64 pg for B. catharticus to 2C = 17.92 pg for B. auleticus, meaning a maximum variation of 2C = 5.28 pg, equivalent to 41.70%. Despite this significant difference in 2C value, the three species exhibit the same chromosome number, 2n = 6x = 42, which confirms their hexaploid origin. Corroborating the genome size, the chromosome morphometry (total, short- and long-arm length) and, consequently, the class differed among the karyotypes of the species. Based on the first karyograms for these Bromus species, some morphologically similar and several distinct chromosome pairs were found. Therefore, the karyotype characterization confirmed the hexaploid origin of the studied Bromus species, which differ in relation to the karyogram and the nuclear 2C value. Considering this, cytogenetics and flow cytometry can be used to discriminate Bromus species, contributing to taxonomy and systematic studies and providing information on the evolutionary history of this taxa. PMID:28919960

  8. Esthesioneuroblastoma in a boy with 47, XYY karyotype

    Science.gov (United States)

    Jo, Hee Cheol; Lee, Seong Wook; Jung, Hyun Joo

    2016-01-01

    Neuroblastomas are sometimes associated with abnormal constitutional karyotypes, but the XYY karyotype has been rarely described in neuroblastomas. Here, we report a case of an esthesioneuroblastoma in a boy with a 47, XYY karyotype. A 6-year-old boy was admitted to our hospital because of nasal obstruction and palpable cervical lymph node, which he first noticed several days previously. A polypoid mass in the right nasal cavity was detected through sinuscopy. Biopsy of the right nasal polyp was performed. Based on the result, the patient was diagnosed with a high-grade esthesioneuroblastoma. Nuclear imaging revealed increased uptake in both the right posterior nasal cavity and the right cervical IB-II space, suggesting metastatic lymph nodes. Cytogenetic analysis revealed a 47, XYY karyotype. Twelve courses of concurrent chemotherapy were administered. Three years after the completion of chemotherapy, the patient had had no disease recurrence. He manifested behavioral violence and temper tantrums, so we started methylphenidate for correction of the behavior. PMID:28018456

  9. Karyotypes of six previously unstudied European mealybugs (Homoptera: Pseudococcidae

    Directory of Open Access Journals (Sweden)

    Ilya Gavrilov-Zimin

    2010-12-01

    Full Text Available Phenacoccus peruvianus Granada de Willink, 2007, Ph. prope avenae Borchsenius, 1949, Ph. hordei (Lindeman, 1886, Вalanococcus boratynskii Williams, 1962, Trionymus  radicum (Newstead, 1895, Rhizoecus halophilus (Hardy, 1868 were studied karyologically for the first time. All species demonstrate 2n=10 and a Lecanoid genetic system. Photos of karyotypes of all studied species are given.

  10. Karyotypes of parasitic Hymenoptera: Diversity, evolution and taxonomic significance

    Institute of Scientific and Technical Information of China (English)

    VLADIMIR E. GOKHMAN

    2006-01-01

    Haploid chromosome numbers (n) of parasitic Hymenoptera (= traditional Parasitica + Chrysidoidea) vary from 2 to 23. However, this range can be subdivided into three intervals with n = 14-23 (less derived parasitic wasps, e.g., some Ichneumonidae and Braconidae as well as Gasteruptiidae), 8-13 (many other parasitic Hymenoptera) and 2-7(Dryinidae, the majority of Chalcidoidea and some advanced Braconidae, e.g. Aphidiinae).The symmetric karyotype with a relatively high chromosome number (n = 14-17) and the prevalence of biarmed chromosomes must be considered as a groundplan feature of parasitic Hymenoptera. Independent reductions of chromosome numbers (n ≤ 10-11) occurred in some groups of the superfamily Ichneumonoidea as well as in the common ancestor of the Proctotrupoidea sensu lato, Ceraphronoidea, Cynipoidea and Chalcidoidea. Further multiple decreases in chromosome numbers (n ≤ 4-6) took place in some Braconidae, various lineages of the superfamily Chalcidoidea as well as in the family Dryinidae. Two main trends prevailed in the karyotype evolution of parasitic wasps: the reduction of chromosome numbers (mainly due to tandem fusions and less frequently due to centric ones) and karyotypic dissymmetrization (through an increase in size differentiation of chromosomes and/or in the share of acrocentrics in a chromosome set). Although karyotypic features of parasitic Hymenoptera can be used for solving taxonomic problems at various levels, this method is the most effective at the species level.

  11. Karyotypic evolution during neoplastic progression in nude mice

    Energy Technology Data Exchange (ETDEWEB)

    Kraemer, P.M.; Campbell, E.W.; Cooper, J.L.; Stallings, R.; Wharton, W.

    1985-01-01

    When tumorigenic cultured cell populations are inoculated into nude mice, the tumorigenic process generally requires further progression and selection in vivo. This in vivo progression should be reflected in the altered properties of the tumor cells, as compared to the cells implanted. Karyotypic instability was studied during this process. 6 refs., 5 figs.

  12. Study of karyotypes in Case of Recurrent Abortions in Gujarat

    Directory of Open Access Journals (Sweden)

    N. Parikh

    2015-06-01

    Full Text Available Introduction: - The biological definition of miscarriage is the expulsion of the conceptus before viability has been achieved. The definition of recurrent miscarriage is three or more consecutive spontaneous abortions. The risk factors for recurrent miscarriage are epidemiological, genetic, anatomical disorders, endocrinal, reproductive tract infections, thrombophilic disorders, disorders of materno-fetal alloimmune relationships, environmental effects and psychological causes. About 50% to 60% of all first trimester abortions are associated with derangement of one or more chromosomal complements. Aim: - The aim of this study was to assess frequency and increasing the awareness of physician about the nature of chromosomal aberration that contribute to the occurrence of repeated abortions. Material & Methods: - Patient of recurrent abortion was investigated by history taking, examination and investigations. For present study 20 women having two or more consecutive spontaneous abortions, who attended outdoor & indoor patient department, were selected and karyotyping was done. In 10 of the above cases karyotype study of both partners was done. So in total 30 individuals (20 females & 10 males were selected for Cytogenetic study. In all cases relevant history and clinical findings and other investigations were noted. Blood samples were obtained and karyotype study was performed at Genetic Laboratory, B. J. Medical College, Ahmedabad. Results and Conclusions: - Cytogenetic evaluation by karyotypes revealed robertsonian translocation in one (5% female; this patient had a history of 2 spontaneous abortions and two times IVF failure, she had history of chocolate cyst of ovary and family history of infertility. No numerical anomaly; mosaicism or inversions were found in this study; 23 cases had normal karyotype and remaining 6 cases came out inconclusive.

  13. Is the Karyotype of Neotropical Boid Snakes Really Conserved? Cytotaxonomy, Chromosomal Rearrangements and Karyotype Organization in the Boidae Family

    Science.gov (United States)

    Viana, Patrik F.; Ribeiro, Leila B.; Souza, George Myller; Chalkidis, Hipócrates de Menezes; Gross, Maria Claudia; Feldberg, Eliana

    2016-01-01

    Boids are primitive snakes from a basal lineage that is widely distributed in Neotropical region. Many of these species are both morphologically and biogeographically divergent, and the relationship among some species remains uncertain even with evolutionary and phylogenetic studies being proposed for the group. For a better understanding of the evolutionary relationship between these snakes, we cytogenetically analysed 7 species and 3 subspecies of Neotropical snakes from the Boidae family using different chromosomal markers. The karyotypes of Boa constrictor occidentalis, Corallus hortulanus, Eunectes notaeus, Epicrates cenchria and Epicrates assisi are presented here for the first time with the redescriptions of the karyotypes of Boa constrictor constrictor, B. c. amarali, Eunectes murinus and Epicrates crassus. The three subspecies of Boa, two species of Eunectes and three species of Epicrates exhibit 2n = 36 chromosomes. In contrast, C. hortulanus presented a totally different karyotype composition for the Boidae family, showing 2n = 40 chromosomes with a greater number of macrochromosomes. Furthermore, chromosomal mapping of telomeric sequences revealed the presence of interstitial telomeric sites (ITSs) on many chromosomes in addition to the terminal markings on all chromosomes of all taxa analysed, with the exception of E. notaeus. Thus, we demonstrate that the karyotypes of these snakes are not as highly conserved as previously thought. Moreover, we provide an overview of the current cytotaxonomy of the group. PMID:27494409

  14. Multidirectional cross-species painting illuminates the history of karyotypic evolution in Perissodactyla.

    Science.gov (United States)

    Trifonov, Vladimir A; Stanyon, Roscoe; Nesterenko, Anastasia I; Fu, Beiyuan; Perelman, Polina L; O'Brien, Patricia C M; Stone, Gary; Rubtsova, Nadezhda V; Houck, Marlys L; Robinson, Terence J; Ferguson-Smith, Malcolm A; Dobigny, Gauthier; Graphodatsky, Alexander S; Yang, Fengtang

    2008-01-01

    The order Perissodactyla, the group of odd-toed ungulates, includes three extant families: Equidae, Tapiridae, and Rhinocerotidae. The extremely rapid karyotypic diversification in perissodactyls has so far prevented the establishment of genome-wide homology maps between these three families by traditional cytogenetic approaches. Here we report the first genome-wide comparative chromosome maps of African rhinoceroses, four tapir species, four equine species, and humans. These maps were established by multidirectional chromosome painting, with paint probes derived from flow-sorted chromosomes of Equus grevyi, Tapirus indicus, and Ceratotherium simum as well as painting probes from horse and human. The Malayan tapir (Tapirus indicus), Baird's tapir (T. bairdii), mountain tapir (T. pinchaque), lowland tapir (T. terrestris), and onager (E. hemionus onager), were studied by cross-species chromosome painting for the first time. Our results, when integrated with previously published comparative chromosome maps of the other perissodactyl species, have enabled the reconstruction of perissodactyl, ceratomorph, and equid ancestral karyotypes, and the identification of the defining evolutionary chromosomal rearrangements along each lineage. Our results allow a more reliable estimate of the mode and tempo of evolutionary chromosomal rearrangements, revealing a striking switch between the slowly evolving ceratomorphs and extremely rapidly evolving equids.

  15. Bivariable analysis of ventricular late potentials in high resolution ECG records

    Energy Technology Data Exchange (ETDEWEB)

    Orosco, L [Gabinete de TecnologIa Medica, Facultad de Ingenieria, Universidad Nacional de San Juan, San Juan (Argentina); Laciar, E [Gabinete de TecnologIa Medica, Facultad de Ingenieria, Universidad Nacional de San Juan, San Juan (Argentina)

    2007-11-15

    In this study the bivariable analysis for ventricular late potentials detection in high-resolution electrocardiographic records is proposed. The standard time-domain analysis and the application of the time-frequency technique to high-resolution ECG records are briefly described as well as their corresponding results. In the proposed technique the time-domain parameter, QRSD and the most significant time-frequency index, EN{sub QRS} are used like variables. A bivariable index is defined, that combines the previous parameters. The propose technique allows evaluating the risk of ventricular tachycardia in post-myocardial infarct patients. The results show that the used bivariable index allows discriminating between the patient's population with ventricular tachycardia and the subjects of the control group. Also, it was found that the bivariable technique obtains a good valuation as diagnostic test. It is concluded that comparatively, the valuation of the bivariable technique as diagnostic test is superior to that of the time-domain method and the time-frequency technique evaluated individually.

  16. Modeling animal-vehicle collisions using diagonal inflated bivariate Poisson regression.

    Science.gov (United States)

    Lao, Yunteng; Wu, Yao-Jan; Corey, Jonathan; Wang, Yinhai

    2011-01-01

    Two types of animal-vehicle collision (AVC) data are commonly adopted for AVC-related risk analysis research: reported AVC data and carcass removal data. One issue with these two data sets is that they were found to have significant discrepancies by previous studies. In order to model these two types of data together and provide a better understanding of highway AVCs, this study adopts a diagonal inflated bivariate Poisson regression method, an inflated version of bivariate Poisson regression model, to fit the reported AVC and carcass removal data sets collected in Washington State during 2002-2006. The diagonal inflated bivariate Poisson model not only can model paired data with correlation, but also handle under- or over-dispersed data sets as well. Compared with three other types of models, double Poisson, bivariate Poisson, and zero-inflated double Poisson, the diagonal inflated bivariate Poisson model demonstrates its capability of fitting two data sets with remarkable overlapping portions resulting from the same stochastic process. Therefore, the diagonal inflated bivariate Poisson model provides researchers a new approach to investigating AVCs from a different perspective involving the three distribution parameters (λ(1), λ(2) and λ(3)). The modeling results show the impacts of traffic elements, geometric design and geographic characteristics on the occurrences of both reported AVC and carcass removal data. It is found that the increase of some associated factors, such as speed limit, annual average daily traffic, and shoulder width, will increase the numbers of reported AVCs and carcass removals. Conversely, the presence of some geometric factors, such as rolling and mountainous terrain, will decrease the number of reported AVCs.

  17. Causal networks clarify productivity-richness interrelations, bivariate plots do not

    Science.gov (United States)

    Grace, James B.; Adler, Peter B.; Harpole, W. Stanley; Borer, Elizabeth T.; Seabloom, Eric W.

    2014-01-01

    Perhaps no other pair of variables in ecology has generated as much discussion as species richness and ecosystem productivity, as illustrated by the reactions by Pierce (2013) and others to Adler et al.'s (2011) report that empirical patterns are weak and inconsistent. Adler et al. (2011) argued we need to move beyond a focus on simplistic bivariate relationships and test mechanistic, multivariate causal hypotheses. We feel the continuing debate over productivity–richness relationships (PRRs) provides a focused context for illustrating the fundamental difficulties of using bivariate relationships to gain scientific understanding.

  18. Karyotype and nuclear DNA content of Trichomycterus areolatus (Siluriformes, Trichomycteridae

    Directory of Open Access Journals (Sweden)

    Nelson Colihueque

    2006-01-01

    Full Text Available Cytogenetic analysis of Trichomycterus areolatus, collected from the Tijeral and Huilma Rivers in southern Chile has shown a diploid chromosome number of 2n = 54, a fundamental number of FN = 106, and a karyotypic formula of 44m + 8sm + 2st. Intra-individual polymorphism of chromosome number (2n = 54, 55 and 56 in specimens from the Huilma River has also been documented, providing further evidence of the occurrence of this phenomenon in Trichomycterus. The karyotype exhibited large chromosome pairs: metacentric pairs 1 (relative length 7.54%, 2 (5.75% and 3 (5.09%, submetacentric pair 23 (5.25%, and subtelocentic pair 27 (5.28%. Nuclear DNA content analysis showed an average value of 5.04 ± 1.09 pg/nucleus. This DNA content is higher than the mean value described for other species in this genus.

  19. Electrophoretic molecular karyotype of the dermatophyte Trichophyton rubrum

    Directory of Open Access Journals (Sweden)

    Cervelatti Eliane P.

    2004-01-01

    Full Text Available The electrophoretic karyotype of the dermatophyte Trichophyton rubrum was established using contour-clamped homogeneous electric field (CHEF gel electrophoresis. Five chromosomal bands of approximately 3.0 to 5.8 megabase pairs (Mbp each were observed and together indicated that 22.05 Mbp of the total genome are organized as chromosomal macromolecules. In addition to establishing the number and size of T. rubrum chromosomes, these results open perspectives for the construction of chromosome-specific libraries and for the physical mapping of genes of interest, thus permitting future gene linkage studies in this pathogen. A detailed understanding of the karyotype and genomic organization of T. rubrum should contribute to further genetic, taxonomic and epidemiological studies of this dermatophyte.

  20. Karyotype of the yellow-bellied sea snake, Pelamis platurus

    OpenAIRE

    Gutiérrez, José María; Bolaños, Róger

    1980-01-01

    In this paper we describe the karyotype of the yellow-bellied sea snake, Pelamis platurus from Costa Rica. The diploid number is 38 chromosomes, with 20 macrochromosomes and 18 microchromosomes. The pairs 1 and 2 are metacentrics, pair 3 is subtelocentric and pairs from 4 to 9 have the centromere in a terminal position. Females have a pair of slightly heteromorphic chromosomes identified as sex chromosomes Z and W; both are metacentrics but have different centromeric index and W is slightly s...

  1. Phenotypes and karyotypes of human malignant mesothelioma cell lines.

    Directory of Open Access Journals (Sweden)

    Vandana Relan

    Full Text Available BACKGROUND: Malignant mesothelioma is an aggressive tumour of serosal surfaces most commonly pleura. Characterised cell lines represent a valuable tool to study the biology of mesothelioma. The aim of this study was to develop and biologically characterise six malignant mesothelioma cell lines to evaluate their potential as models of human malignant mesothelioma. METHODS: Five lines were initiated from pleural biopsies, and one from pleural effusion of patients with histologically proven malignant mesothelioma. Mesothelial origin was assessed by standard morphology, Transmission Electron Microscopy (TEM and immunocytochemistry. Growth characteristics were assayed using population doubling times. Spectral karyotyping was performed to assess chromosomal abnormalities. Authentication of donor specific derivation was undertaken by DNA fingerprinting using a panel of SNPs. RESULTS: Most of cell lines exhibited spindle cell shape, with some retaining stellate shapes. At passage 2 to 6 all lines stained positively for calretinin and cytokeratin 19, and demonstrated capacity for anchorage-independent growth. At passage 4 to 16, doubling times ranged from 30-72 hours, and on spectral karyotyping all lines exhibited numerical chromosomal abnormalities ranging from 41 to 113. Monosomy of chromosomes 8, 14, 22 or 17 was observed in three lines. One line displayed four different karyotypes at passage 8, but only one karyotype at passage 42, and another displayed polyploidy at passage 40 which was not present at early passages. At passages 5-17, TEM showed characteristic features of mesothelioma ultrastructure in all lines including microvilli and tight intercellular junctions. CONCLUSION: These six cell lines exhibit varying cell morphology, a range of doubling times, and show diverse passage-dependent structural chromosomal changes observed in malignant tumours. However they retain characteristic immunocytochemical protein expression profiles of

  2. Sex Determination, Sex Chromosomes, and Karyotype Evolution in Insects.

    Science.gov (United States)

    Blackmon, Heath; Ross, Laura; Bachtrog, Doris

    2017-01-01

    Insects harbor a tremendous diversity of sex determining mechanisms both within and between groups. For example, in some orders such as Hymenoptera, all members are haplodiploid, whereas Diptera contain species with homomorphic as well as male and female heterogametic sex chromosome systems or paternal genome elimination. We have established a large database on karyotypes and sex chromosomes in insects, containing information on over 13000 species covering 29 orders of insects. This database constitutes a unique starting point to report phylogenetic patterns on the distribution of sex determination mechanisms, sex chromosomes, and karyotypes among insects and allows us to test general theories on the evolutionary dynamics of karyotypes, sex chromosomes, and sex determination systems in a comparative framework. Phylogenetic analysis reveals that male heterogamety is the ancestral mode of sex determination in insects, and transitions to female heterogamety are extremely rare. Many insect orders harbor species with complex sex chromosomes, and gains and losses of the sex-limited chromosome are frequent in some groups. Haplodiploidy originated several times within insects, and parthenogenesis is rare but evolves frequently. Providing a single source to electronically access data previously distributed among more than 500 articles and books will not only accelerate analyses of the assembled data, but also provide a unique resource to guide research on which taxa are likely to be informative to address specific questions, for example, for genome sequencing projects or large-scale comparative studies.

  3. Array-CGH testing in spontaneous abortions with normal karyotypes

    Directory of Open Access Journals (Sweden)

    Cleide L. Borovik

    2008-01-01

    Full Text Available In about 50% of first trimester spontaneous abortion the cause remains undetermined after standard cytogenetic investigation. We evaluated the usefulness of array-CGH in diagnosing chromosome abnormalities in products of conception from first trimester spontaneous abortions. Cell culture was carried out in short- and long-term cultures of 54 specimens and cytogenetic analysis was successful in 49 of them. Cytogenetic abnormalities (numerical and structural were detected in 22 (44.89% specimens. Subsequent, array-CGH based on large insert clones spaced at ~1 Mb intervals over the whole genome was used in 17 cases with normal G-banding karyotype. This revealed chromosome aneuplodies in three additional cases, giving a final total of 51% cases in which an abnormal karyotype was detected. In keeping with other recently published works, this study shows that array-CGH detects abnormalities in a further ~10% of spontaneous abortion specimens considered to be normal using standard cytogenetic methods. As such, array-CGH technique may present a suitable complementary test to cytogenetic analysis in cases with a normal karyotype.

  4. The ancestral eutherian karyotype is present in Xenarthra.

    Directory of Open Access Journals (Sweden)

    Marta Svartman

    2006-07-01

    Full Text Available Molecular studies have led recently to the proposal of a new super-ordinal arrangement of the 18 extant Eutherian orders. From the four proposed super-orders, Afrotheria and Xenarthra were considered the most basal. Chromosome-painting studies with human probes in these two mammalian groups are thus key in the quest to establish the ancestral Eutherian karyotype. Although a reasonable amount of chromosome-painting data with human probes have already been obtained for Afrotheria, no Xenarthra species has been thoroughly analyzed with this approach. We hybridized human chromosome probes to metaphases of species (Dasypus novemcinctus, Tamandua tetradactyla, and Choloepus hoffmanii representing three of the four Xenarthra families. Our data allowed us to review the current hypotheses for the ancestral Eutherian karyotype, which range from 2n = 44 to 2n = 48. One of the species studied, the two-toed sloth C. hoffmanii (2n = 50, showed a chromosome complement strikingly similar to the proposed 2n = 48 ancestral Eutherian karyotype, strongly reinforcing it.

  5. Clinical disease characteristics according to karyotype in Turner syndrome

    Directory of Open Access Journals (Sweden)

    Chae Young Yeo

    2010-02-01

    Full Text Available Purpose : Turner syndrome (TS is a disorder in which various anomalies can be accompanied, especially cardiovascular, renal, thyroid and auditory problems. The aim of this study is to identify the incidence of these disorders in patients with TS according to karyotype. Methods : We reviewed medical records of 90 patients with TS diagnosed by chromosomal analysis in 4 hospitals from Jan 1998 to Dec 2007. We evaluated these cases by prepared protocol of 4 medical problems. Results : The distribution of karyotype was 45,X (47.8%, mosaic pattern (34.4% and structural aberration group (17.8 %. Renal anomalies, cardiovascular anomalies, thyroid disorders and auditory problems are accompanied in 4.4%, 10.0 %, 11.1% and 5.6%, respectively. 45,X group had renal anomalies (7.0%, cardiovascular anomalies (18.6%, thyroid disorders (9.3% and auditory problems (11.6%. Mosaic group had renal anomalies (3.2%, thyroid disorders (12.9%, no cardiovascular anomalies and auditory problems. Structural aberration group had cardiovascular anomalies (6.3%, thyroid disorders (12.5% and no other 2 problems. Patients with 45,X group had a significant higher incidence of cardiovascular anomalies (P=0.025. Conclusion : Our results indicate that there are differences clinically according to karyotype of TS, especially in incidence of cardiovascular anomalies.

  6. The ancestral eutherian karyotype is present in Xenarthra.

    Science.gov (United States)

    Svartman, Marta; Stone, Gary; Stanyon, Roscoe

    2006-07-01

    Molecular studies have led recently to the proposal of a new super-ordinal arrangement of the 18 extant Eutherian orders. From the four proposed super-orders, Afrotheria and Xenarthra were considered the most basal. Chromosome-painting studies with human probes in these two mammalian groups are thus key in the quest to establish the ancestral Eutherian karyotype. Although a reasonable amount of chromosome-painting data with human probes have already been obtained for Afrotheria, no Xenarthra species has been thoroughly analyzed with this approach. We hybridized human chromosome probes to metaphases of species (Dasypus novemcinctus, Tamandua tetradactyla, and Choloepus hoffmanii) representing three of the four Xenarthra families. Our data allowed us to review the current hypotheses for the ancestral Eutherian karyotype, which range from 2n = 44 to 2n = 48. One of the species studied, the two-toed sloth C. hoffmanii (2n = 50), showed a chromosome complement strikingly similar to the proposed 2n = 48 ancestral Eutherian karyotype, strongly reinforcing it.

  7. Saponaria officinalis karyology and karyotype by means of image analyzer and atomic force microscopy.

    Science.gov (United States)

    Di Bucchianico, S; Venora, G; Lucretti, S; Limongi, T; Palladino, L; Poma, A

    2008-10-01

    The aim of this work was to offer a contribution to the characterization of taxonomic entity of Saponaria officinalis (2n = 28; an herbaceous perennial species; saporin, a type 1 Ribosome Inactivating Protein, is present in leaves and seeds) by a cytogenetic and karyomorphological approach. We investigated the karyotype's morphometry correlated with Stebbin's symmetric index; the same information has been used for computing the indices resemblance between chromosomes (REC), symmetric indices (SYI), and total form (TF%) which allow the comparison between species and evaluation of karyological evolution. Fluorescence intensities of the stained nuclei were measured by a flow cytometer and, for the first time, values for nuclear DNA content were estimated by comparing nuclei fluorescence intensities of the test population with those of appropriate internal DNA standards. Our study is also aimed to introduce chromosomal volumes, which were determined by atomic force microscopy (AFM), as novel karyomorphological parameter which could allow for chromosome discrimination especially when tiny ones are present.

  8. The Karyotype of Alstroemeria diluta Ehr. Bayer subsp. chrysantha (Alstroemeriaceae Karyotype of Alstroemeria diluta Ehr. Bayer subsp. chrysantha (Alstroemeriaceae

    Directory of Open Access Journals (Sweden)

    Carlos M Baeza

    2010-12-01

    Full Text Available The karyotype of Alstroemeria diluta subsp. chrysantha Ehr. Bayer from Chile was examined. The species has 2n = 2x = 16 chromosomes, with 4m + 4sm + 2st-sat + 4t + 2t-sat. The reported karyotype is very asymmetrical (AsK % = 71.4 and Syi = 40.0%. This karyotype is similar to that published previously for Alstroemeria graminea Phil.Alstroemeria diluta subsp. chrysantha Ehr. Bayer (Alstroemeriaceae fue examinada citológicamente. Esta especie presenta un número cromosómico somático de 2n = 2x = 16 cromosomas, con una fórmula haploide constituida por 4m + 4sm + 2st-sat + 4t + 2t-sat cromosomas. El cariotipo es muy asimétrico, con valores de AsK % = 71,4 y Syi = 40,0%. Estos resultados se compararon con los de Alstroemeria graminea Phil., especie que presenta un cariotipo muy similar.

  9. Representing Topography with Second-Degree Bivariate Polynomial Functions Fitted by Least Squares.

    Science.gov (United States)

    Neuman, Arthur Edward

    1987-01-01

    There is a need for abstracting topography other than for mapping purposes. The method employed should be simple and available to non-specialists, thereby ruling out spline representations. Generalizing from univariate first-degree least squares and from multiple regression, this article introduces bivariate polynomial functions fitted by least…

  10. A comparison of bivariate and univariate QTL mapping in livestock populations

    Directory of Open Access Journals (Sweden)

    Sorensen Daniel

    2003-11-01

    Full Text Available Abstract This study presents a multivariate, variance component-based QTL mapping model implemented via restricted maximum likelihood (REML. The method was applied to investigate bivariate and univariate QTL mapping analyses, using simulated data. Specifically, we report results on the statistical power to detect a QTL and on the precision of parameter estimates using univariate and bivariate approaches. The model and methodology were also applied to study the effectiveness of partitioning the overall genetic correlation between two traits into a component due to many genes of small effect, and one due to the QTL. It is shown that when the QTL has a pleiotropic effect on two traits, a bivariate analysis leads to a higher statistical power of detecting the QTL and to a more precise estimate of the QTL's map position, in particular in the case when the QTL has a small effect on the trait. The increase in power is most marked in cases where the contributions of the QTL and of the polygenic components to the genetic correlation have opposite signs. The bivariate REML analysis can successfully partition the two components contributing to the genetic correlation between traits.

  11. A simple approximation to the bivariate normal distribution with large correlation coefficient

    NARCIS (Netherlands)

    Albers, Willem; Kallenberg, Wilbert C.M.

    1994-01-01

    The bivariate normal distribution function is approximated with emphasis on situations where the correlation coefficient is large. The high accuracy of the approximation is illustrated by numerical examples. Moreover, exact upper and lower bounds are presented as well as asymptotic results on the er

  12. Evaluation dam overtopping risk based on univariate and bivariate flood frequency analysis

    Science.gov (United States)

    Goodarzi, E.; Mirzaei, M.; Shui, L. T.; Ziaei, M.

    2011-11-01

    There is a growing tendency to assess the safety levels of existing dams based on risk and uncertainty analysis using mathematical and statistical methods. This research presents the application of risk and uncertainty analysis to dam overtopping based on univariate and bivariate flood frequency analyses by applying Gumbel logistic distribution for the Doroudzan earth-fill dam in south of Iran. The bivariate frequency analysis resulted in six inflow hydrographs with a joint return period of 100-yr. The overtopping risks were computed for all of those hydrographs considering quantile of flood peak discharge (in particular 100-yr), initial depth of water in the reservoir, and discharge coefficient of spillway as uncertain variables. The maximum height of the water, as most important factor in the overtopping analysis, was evaluated using reservoir routing and the Monte Carlo and Latin hypercube techniques were applied for uncertainty analysis. Finally, the achieved results using both univariate and bivariate frequency analysis have been compared to show the significance of bivariate analyses on dam overtopping.

  13. A simple powerful bivariate test for two sample location problems in experimental and observational studies

    Directory of Open Access Journals (Sweden)

    Ayatollahi S MT

    2010-05-01

    Full Text Available Abstract Background In many areas of medical research, a bivariate analysis is desirable because it simultaneously tests two response variables that are of equal interest and importance in two populations. Several parametric and nonparametric bivariate procedures are available for the location problem but each of them requires a series of stringent assumptions such as specific distribution, affine-invariance or elliptical symmetry. The aim of this study is to propose a powerful test statistic that requires none of the aforementioned assumptions. We have reduced the bivariate problem to the univariate problem of sum or subtraction of measurements. A simple bivariate test for the difference in location between two populations is proposed. Method In this study the proposed test is compared with Hotelling's T2 test, two sample Rank test, Cramer test for multivariate two sample problem and Mathur's test using Monte Carlo simulation techniques. The power study shows that the proposed test performs better than any of its competitors for most of the populations considered and is equivalent to the Rank test in specific distributions. Conclusions Using simulation studies, we show that the proposed test will perform much better under different conditions of underlying population distribution such as normality or non-normality, skewed or symmetric, medium tailed or heavy tailed. The test is therefore recommended for practical applications because it is more powerful than any of the alternatives compared in this paper for almost all the shifts in location and in any direction.

  14. Characterizations of bivariate models using dynamic Kullbak-Leibler discrimination measures

    OpenAIRE

    Navarro, J.; S. M. Sunoj; Linu, M.N.

    2011-01-01

    Abstract In this paper the residual Kullback-Leibler discrimination information measure is extended to conditionally specified models. The extension is used to characterize some bivariate distributions. These distributions are also characterized in terms of proportional hazard rate models and weighted distributions. Moreover, we also obtain some bounds for this dynamic discrimination function by using the likelihood ratio order and some preceding results. correspondence: ...

  15. Bivariate categorical data analysis using normal linear conditional multinomial probability model.

    Science.gov (United States)

    Sun, Bingrui; Sutradhar, Brajendra

    2015-02-10

    Bivariate multinomial data such as the left and right eyes retinopathy status data are analyzed either by using a joint bivariate probability model or by exploiting certain odds ratio-based association models. However, the joint bivariate probability model yields marginal probabilities, which are complicated functions of marginal and association parameters for both variables, and the odds ratio-based association model treats the odds ratios involved in the joint probabilities as 'working' parameters, which are consequently estimated through certain arbitrary 'working' regression models. Also, this later odds ratio-based model does not provide any easy interpretations of the correlations between two categorical variables. On the basis of pre-specified marginal probabilities, in this paper, we develop a bivariate normal type linear conditional multinomial probability model to understand the correlations between two categorical variables. The parameters involved in the model are consistently estimated using the optimal likelihood and generalized quasi-likelihood approaches. The proposed model and the inferences are illustrated through an intensive simulation study as well as an analysis of the well-known Wisconsin Diabetic Retinopathy status data.

  16. Identifying hidden common causes from bivariate time series: a method using recurrence plots.

    Science.gov (United States)

    Hirata, Yoshito; Aihara, Kazuyuki

    2010-01-01

    We propose a method for inferring the existence of hidden common causes from observations of bivariate time series. We detect related time series by excessive simultaneous recurrences in the corresponding recurrence plots. We also use a noncoverage property of a recurrence plot by the other to deny the existence of a directional coupling. We apply the proposed method to real wind data.

  17. On the construction of bivariate exponential distributions with an arbitrary correlation coefficient

    DEFF Research Database (Denmark)

    Bladt, Mogens; Nielsen, Bo Friis

    In this paper we use a concept of multivariate phase-type distributions to define a class of bivariate exponential distributions. This class has the following three appealing properties. Firstly, we may construct a pair of exponentially distributed random variables with any feasible correlation...... the exponential random vectors....

  18. On the Construction of Bivariate Exponential Distributions with an Arbitrary Correlation Coefficient

    DEFF Research Database (Denmark)

    Bladt, Mogens; Nielsen, Bo Friis

    2010-01-01

    In this article we use the concept of multivariate phase-type distributions to define a class of bivariate exponential distributions. This class has the following three appealing properties. Firstly, we may construct a pair of exponentially distributed random variables with any feasible correlation...... the exponential random vectors....

  19. Two-Sample, Bivariate Hypothesis Testing Methods Based on Tukey's Depth.

    Science.gov (United States)

    Wilcox, Rand R.

    2003-01-01

    Conducted simulations to explore methods for comparing bivariate distributions corresponding to two independent groups, all of which are based on Tukey's "depth," a generalization of the notion of ranks to multivariate data. Discusses steps needed to control Type I error. (SLD)

  20. A MODIFIED LIKELIHOOD RATIO TEST FOR HOMOGENEITY IN BIVARIATE NORMAL MIXTURES OF TWO SAMPLES

    Institute of Scientific and Technical Information of China (English)

    Qingzhu LEI; Yongsong QIN

    2009-01-01

    This paper investigates the asymptotic properties of a modified likelihood ratio statistic for testing homogeneity in bivariate normal mixture models of two samples. The asymptotic null distribution of the modified likelihood ratio statistic is found to be X~2_2, where X~2_2 is a chi-squared distribution with 2 degrees of freedom.

  1. A simple approximation to the bivariate normal distribution with large correlation coefficient

    NARCIS (Netherlands)

    Albers, Willem/Wim; Kallenberg, W.C.M.

    1994-01-01

    The bivariate normal distribution function is approximated with emphasis on situations where the correlation coefficient is large. The high accuracy of the approximation is illustrated by numerical examples. Moreover, exact upper and lower bounds are presented as well as asymptotic results on the

  2. Characterization of the atypical karyotype of the black-winged kite Elanus caeruleus (Falconiformes: Accipitridae) by means of classical and molecular cytogenetic techniques.

    Science.gov (United States)

    Bed'Hom, Bertrand; Coullin, Philippe; Guillier-Gencik, Zuzana; Moulin, Sibyle; Bernheim, Alain; Volobouev, Vitaly

    2003-01-01

    The karyotype of the black-winged kite (Elanus caeruleus), a small diurnal raptor living in Africa, Asia and southern Europe, was studied with classical (G-, C-, R-banding, and Ag-NOR staining) and molecular cytogenetic methods, including primed in-situ labelling (PRINS) and fluorescence in-situ hybridization (FISH) with telomeric (TTAGGG) and centromeric DNA repeats. The study revealed that the genome size, measured by flow cytometry (3.1 pg), is in the normal avian range. However, the black-winged kite karyotype is particularly unusual among birds in having a moderate diploid number of 68 chromosomes, and containing only one pair of dot-shaped microchromosomes. Moreover, the macrochromosomes are medium-sized, with the Z and W gonosomes being clearly the largest in the set. C-banding shows that constitutive heterochromatin is located at the centromeric regions of all chromosomes, and that two pairs of small acrocentrics and the pair of microchromosomes are almost entirely heterochromatic and G-band negative. The distribution pattern of a centromeric repeated DNA sequence, as demonstrated by PRINS, follows that of C-heterochromatin. The localization of telomeric sequences by FISH and PRINS reveals many strong telomeric signals but no extratelomeric signal was observed. The atypical organization of the karyotype of the black-winged kite is considered in the context of the modes of karyotypic evolution in birds.

  3. CI2 for creating and comparing confidence-intervals for time-series bivariate plots.

    Science.gov (United States)

    Mullineaux, David R

    2017-02-01

    Currently no method exists for calculating and comparing the confidence-intervals (CI) for the time-series of a bivariate plot. The study's aim was to develop 'CI2' as a method to calculate the CI on time-series bivariate plots, and to identify if the CI between two bivariate time-series overlap. The test data were the knee and ankle angles from 10 healthy participants running on a motorised standard-treadmill and non-motorised curved-treadmill. For a recommended 10+ trials, CI2 involved calculating 95% confidence-ellipses at each time-point, then taking as the CI the points on the ellipses that were perpendicular to the direction vector between the means of two adjacent time-points. Consecutive pairs of CI created convex quadrilaterals, and any overlap of these quadrilaterals at the same time or ±1 frame as a time-lag calculated using cross-correlations, indicated where the two time-series differed. CI2 showed no group differences between left and right legs on both treadmills, but the same legs between treadmills for all participants showed differences of less knee extension on the curved-treadmill before heel-strike. To improve and standardise the use of CI2 it is recommended to remove outlier time-series, use 95% confidence-ellipses, and scale the ellipse by the fixed Chi-square value as opposed to the sample-size dependent F-value. For practical use, and to aid in standardisation or future development of CI2, Matlab code is provided. CI2 provides an effective method to quantify the CI of bivariate plots, and to explore the differences in CI between two bivariate time-series. Copyright © 2016 Elsevier B.V. All rights reserved.

  4. Meta-analysis of studies with bivariate binary outcomes: a marginal beta-binomial model approach.

    Science.gov (United States)

    Chen, Yong; Hong, Chuan; Ning, Yang; Su, Xiao

    2016-01-15

    When conducting a meta-analysis of studies with bivariate binary outcomes, challenges arise when the within-study correlation and between-study heterogeneity should be taken into account. In this paper, we propose a marginal beta-binomial model for the meta-analysis of studies with binary outcomes. This model is based on the composite likelihood approach and has several attractive features compared with the existing models such as bivariate generalized linear mixed model (Chu and Cole, 2006) and Sarmanov beta-binomial model (Chen et al., 2012). The advantages of the proposed marginal model include modeling the probabilities in the original scale, not requiring any transformation of probabilities or any link function, having closed-form expression of likelihood function, and no constraints on the correlation parameter. More importantly, because the marginal beta-binomial model is only based on the marginal distributions, it does not suffer from potential misspecification of the joint distribution of bivariate study-specific probabilities. Such misspecification is difficult to detect and can lead to biased inference using currents methods. We compare the performance of the marginal beta-binomial model with the bivariate generalized linear mixed model and the Sarmanov beta-binomial model by simulation studies. Interestingly, the results show that the marginal beta-binomial model performs better than the Sarmanov beta-binomial model, whether or not the true model is Sarmanov beta-binomial, and the marginal beta-binomial model is more robust than the bivariate generalized linear mixed model under model misspecifications. Two meta-analyses of diagnostic accuracy studies and a meta-analysis of case-control studies are conducted for illustration.

  5. Immortality of cancers: a consequence of inherent karyotypic variations and selections for autonomy.

    Science.gov (United States)

    Duesberg, Peter; McCormack, Amanda

    2013-03-01

    Immortality is a common characteristic of cancers, but its origin and purpose are still unclear. Here we advance a karyotypic theory of immortality based on the theory that carcinogenesis is a form of speciation. Accordingly, cancers are generated from normal cells by random karyotypic rearrangements and selection for cancer-specific reproductive autonomy. Since such rearrangements unbalance long-established mitosis genes, cancer karyotypes vary spontaneously but are stabilized perpetually by clonal selections for autonomy. To test this theory we have analyzed neoplastic clones, presumably immortalized by transfection with overexpressed telomerase or with SV40 tumor virus, for the predicted clonal yet flexible karyotypes. The following results were obtained: (1) All immortal tumorigenic lines from cells transfected with overexpressed telomerase had clonal and flexible karyotypes; (2) Searching for the origin of such karyotypes, we found spontaneously increasing, random aneuploidy in human fibroblasts early after transfection with overexpressed telomerase; (3) Late after transfection, new immortal tumorigenic clones with new clonal and flexible karyotypes were found; (4) Testing immortality of one clone during 848 unselected generations showed the chromosome number was stable, but the copy numbers of 36% of chromosomes drifted ± 1; (5) Independent immortal tumorigenic clones with individual, flexible karyotypes arose after individual latencies; (6) Immortal tumorigenic clones with new flexible karyotypes also arose late from cells of a telomerase-deficient mouse rendered aneuploid by SV40 virus. Because immortality and tumorigenicity: (1) correlated exactly with individual clonal but flexible karyotypes; (2) originated simultaneously with such karyotypes; and (3) arose in the absence of telomerase, we conclude that clonal and flexible karyotypes generate the immortality of cancers.

  6. Standard karyotype and nucleolus organizer region of Neotropical blindsnake Typhlops brongersmianus (Serpentes: Typhlopidae

    Directory of Open Access Journals (Sweden)

    José Augusto Ruiz García

    2007-11-01

    Full Text Available The karyotype of Typhlops brongersmianus is reported on the basis of specimens from north-eastern Argentina. The conventional Giemsa staining showed that the species has 2n = 34 chromosomes, including 8 pairs of macrochromosomes and 9 pairs of microchromosomes. Ag-NOR staining revealed the NORs location on a pair of macrochromosomes. The chromosome number and karyotypic morphology are similar to those of Neotropical typhlopid previously karyotyped.

  7. Bivariate functional data clustering: grouping streams based on a varying coefficient model of the stream water and air temperature relationship

    Science.gov (United States)

    H. Li; X. Deng; Andy Dolloff; E. P. Smith

    2015-01-01

    A novel clustering method for bivariate functional data is proposed to group streams based on their water–air temperature relationship. A distance measure is developed for bivariate curves by using a time-varying coefficient model and a weighting scheme. This distance is also adjusted by spatial correlation of streams via the variogram. Therefore, the proposed...

  8. The genome diversity and karyotype evolution of mammals

    Directory of Open Access Journals (Sweden)

    Trifonov Vladimir A

    2011-10-01

    Full Text Available Abstract The past decade has witnessed an explosion of genome sequencing and mapping in evolutionary diverse species. While full genome sequencing of mammals is rapidly progressing, the ability to assemble and align orthologous whole chromosome regions from more than a few species is still not possible. The intense focus on building of comparative maps for companion (dog and cat, laboratory (mice and rat and agricultural (cattle, pig, and horse animals has traditionally been used as a means to understand the underlying basis of disease-related or economically important phenotypes. However, these maps also provide an unprecedented opportunity to use multispecies analysis as a tool for inferring karyotype evolution. Comparative chromosome painting and related techniques are now considered to be the most powerful approaches in comparative genome studies. Homologies can be identified with high accuracy using molecularly defined DNA probes for fluorescence in situ hybridization (FISH on chromosomes of different species. Chromosome painting data are now available for members of nearly all mammalian orders. In most orders, there are species with rates of chromosome evolution that can be considered as 'default' rates. The number of rearrangements that have become fixed in evolutionary history seems comparatively low, bearing in mind the 180 million years of the mammalian radiation. Comparative chromosome maps record the history of karyotype changes that have occurred during evolution. The aim of this review is to provide an overview of these recent advances in our endeavor to decipher the karyotype evolution of mammals by integrating the published results together with some of our latest unpublished results.

  9. Chromosomal evolution in tortricid moths: conserved karyotypes with diverged features.

    Directory of Open Access Journals (Sweden)

    Jindra Síchová

    Full Text Available Moths of the family Tortricidae constitute one of the major microlepidopteran groups in terms of species richness and economic importance. Yet, despite their overall significance, our knowledge of their genome organization is very limited. In order to understand karyotype evolution in the family Tortricidae, we performed detailed cytogenetic analysis of Grapholita molesta, G. funebrana, Lobesia botrana, and Eupoecilia ambiguella, representatives of two main tortricid subfamilies, Olethreutinae and Tortricinae. Besides standard cytogenetic methods, we used fluorescence in situ hybridization for mapping of major rRNA and histone gene clusters and comparative genomic hybridization to determine the level of molecular differentiation of the W and Z sex chromosomes. Our results in combination with available data in the codling moth, Cydia pomonella, and other tortricids allow us a comprehensive reconstruction of chromosomal evolution across the family Tortricidae. The emerging picture is that the karyotype of a common ancestor of Tortricinae and Olethreutinae differentiated from the ancestral lepidopteran chromosome print of n = 31 by a sex chromosome-autosome fusion. This rearrangement resulted in a large neo-sex chromosome pair and a karyotype with n = 30 conserved in most Tortricinae species, which was further reduced to n = 28 observed in Olethreutinae. Comparison of the tortricid neo-W chromosomes showed differences in their structure and composition presumably reflecting stochasticity of molecular degeneration of the autosomal part of the neo-W chromosome. Our analysis also revealed conservative pattern of the histone distribution, which is in contrast with high rDNA mobility. Despite the dynamic evolution of rDNA, we can infer a single NOR-chromosome pair as an ancestral state not only in tortricids but probably in all Lepidoptera. The results greatly expand our knowledge of the genome architecture in tortricids, but also contribute

  10. Chromosomal evolution in tortricid moths: conserved karyotypes with diverged features.

    Science.gov (United States)

    Síchová, Jindra; Nguyen, Petr; Dalíková, Martina; Marec, František

    2013-01-01

    Moths of the family Tortricidae constitute one of the major microlepidopteran groups in terms of species richness and economic importance. Yet, despite their overall significance, our knowledge of their genome organization is very limited. In order to understand karyotype evolution in the family Tortricidae, we performed detailed cytogenetic analysis of Grapholita molesta, G. funebrana, Lobesia botrana, and Eupoecilia ambiguella, representatives of two main tortricid subfamilies, Olethreutinae and Tortricinae. Besides standard cytogenetic methods, we used fluorescence in situ hybridization for mapping of major rRNA and histone gene clusters and comparative genomic hybridization to determine the level of molecular differentiation of the W and Z sex chromosomes. Our results in combination with available data in the codling moth, Cydia pomonella, and other tortricids allow us a comprehensive reconstruction of chromosomal evolution across the family Tortricidae. The emerging picture is that the karyotype of a common ancestor of Tortricinae and Olethreutinae differentiated from the ancestral lepidopteran chromosome print of n = 31 by a sex chromosome-autosome fusion. This rearrangement resulted in a large neo-sex chromosome pair and a karyotype with n = 30 conserved in most Tortricinae species, which was further reduced to n = 28 observed in Olethreutinae. Comparison of the tortricid neo-W chromosomes showed differences in their structure and composition presumably reflecting stochasticity of molecular degeneration of the autosomal part of the neo-W chromosome. Our analysis also revealed conservative pattern of the histone distribution, which is in contrast with high rDNA mobility. Despite the dynamic evolution of rDNA, we can infer a single NOR-chromosome pair as an ancestral state not only in tortricids but probably in all Lepidoptera. The results greatly expand our knowledge of the genome architecture in tortricids, but also contribute to the

  11. Karyotypic findings in chronic myeloid leukemia cases undergoing treatment

    Directory of Open Access Journals (Sweden)

    Anupam Kaur

    2012-01-01

    Full Text Available Background: Chronic myeloid leukemia (CML is a clonal myeloproliferative expansion of primitive hematopoietic progenitor cells. Materials and Methods: In the present study, CML samples were collected from various hospitals in Amritsar, Jalandhar and Ludhiana. Results: Chromosomal alterations seen in peripheral blood lymphocytes of these treated and untreated cases of CML were satellite associations, double minutes, random loss, gain of C group chromosomes and presence of marker chromosome. No aberrations were observed in control samples. Karyotypic abnormalities have also been noted in the Ph-negative cells of some patients in disease remission. Conclusion: This is a novel phenomenon whose prognostic implications require thorough and systematic evaluation.

  12. A Rare Karyotype of Turner Syndrome: 45.X/47.XXX

    Directory of Open Access Journals (Sweden)

    Ayça Altıncık

    2014-04-01

    Full Text Available Turner syndrome (TS is a chromosomal disorder, which mostly results from a 45.XO karyotype and is characterized with short stature, gonadal dysgenesis, renal and cardiac abnormalities. The probability of spontaneous menarche in TS is 10%, while the probability of fertility is too low. The frequency of 45.X/47,XXX mosaicism in TS has been reported as 1%-4%. Cases with this karyotype were reported to have higher rates of spontaneous menarche and fertility with a lower incidence of short stature and renal abnormalities. A thirteen year-old girl was admitted to our clinic with the complaints of decreased height velocity for the last two years and short stature compared to peers. On physical examination, her height was 135 cm (SD score -3.3 and weight was 32 kg (SD score -2.3 with breast development and pubic hair consistent with Tanner stage III. She also had an increased carrying angle of the elbow and low nuchal hairline. Remaining systemic physical examination was normal. Laboratory evaluation revealed normal complete blood count, renal, hepatic, and thyroid function test results. Bone age was consistent with 11 years. FSH was 5.99 mIU/mL, LH 2.94 mIU/mL, and E2 <20 pg/mL. The result of karyotype analysis was reported to be 45.X/47.XXX. She had no renal abnormality and echocardiogram revealed no pathological finding except minimal mitral valve regurgitation. WISC-R intelligence test was performed due to poor school skills and her IQ score was reported as 68. Recombinant human growth hormone treatment was started and at follow up, she had spontaneous menarche at the age of 13.5 years. With this report, it was aimed to emphasize i the clinical features of this rare 45.X/47.XXX mosaicism and ii the necessity of considering mosaic Turner syndrome in differential diagnosis and determining karyotype in all girls with short stature despite normal pubertal development. (The Jo­ur­nal of Cur­rent Pe­di­at­rics 2014;1:43-7

  13. Obtaining DDF Curves of Extreme Rainfall Data Using Bivariate Copula and Frequency Analysis

    DEFF Research Database (Denmark)

    Sadri, Sara; Madsen, Henrik; Mikkelsen, Peter Steen

    2009-01-01

    The traditional rainfall intensity-duration-frequency (IDF) curve is a reliable approach for representing the variation of rainfall intensity with duration for a given return period. In reality rainfall variables intensity, depth and duration are dependent and therefore a bivariate analysis using...... copulas can give a more accurate IDF curve. We study IDF curves using a copula in a bivariate frequency analysis of extreme rainfall. To be able to choose the most suitable copula among candidate copulas (i.e., Gumbel, Clayton, and Frank) we demonstrated IDF curves based on variation of depth...... with duration for a given return period and name them DDF (depth-duration-frequency) curves. The copula approach does not assume the rainfall variables are independent or jointly normally distributed. Rainfall series are extracted in three ways: (1) by maximum mean intensity; (2) by depth and duration...

  14. The Research of Affine Bivariate Dual Frames Associated with a Generalized Multiresolution Analysis and Filter Banks

    Science.gov (United States)

    Ke-zhong, Han

    The rise of frame theory in applied mathematics is due to the flexibility and redundancy of frames. In the work, the notion of bivariate affine pseudoframes is introduced and the no-tion of a bivariate generalized multiresolution analysis (GMRA) is introduced. A novel approach for designing one GMRA of Paley Wiener subspaces of L2(R2) is proposed. The sufficient condition for the existence of a sort of affine pseudoframes with fi-filter banks is obtained by virtue of a generalized multiresolution analysis. The pyramid decomposition scheme is established based on such a generalized multiresolution analysis. An approach for designing a sort of affine biariate dual frames in two-dimensional space is presented.

  15. On the Bivariate Spectral Homotopy Analysis Method Approach for Solving Nonlinear Evolution Partial Differential Equations

    Directory of Open Access Journals (Sweden)

    S. S. Motsa

    2014-01-01

    Full Text Available This paper presents a new application of the homotopy analysis method (HAM for solving evolution equations described in terms of nonlinear partial differential equations (PDEs. The new approach, termed bivariate spectral homotopy analysis method (BISHAM, is based on the use of bivariate Lagrange interpolation in the so-called rule of solution expression of the HAM algorithm. The applicability of the new approach has been demonstrated by application on several examples of nonlinear evolution PDEs, namely, Fisher’s, Burgers-Fisher’s, Burger-Huxley’s, and Fitzhugh-Nagumo’s equations. Comparison with known exact results from literature has been used to confirm accuracy and effectiveness of the proposed method.

  16. The Achievable Distortion Region of Bivariate Gaussian Source on Gaussian Broadcast Channel

    CERN Document Server

    Tian, Chao; Shamai, Shlomo

    2010-01-01

    We provide a complete characterization of the achievable distortion region for the problem of sending a bivariate Gaussian source over bandwidth-matched Gaussian broadcast channels, where each receiver is interested in only one component of the source. This setting naturally generalizes the simple single Gaussian source bandwidth-matched broadcast problem for which the uncoded scheme is known to be optimal. We show that a hybrid scheme can achieve the optimum for the bivariate case, but neither an uncoded scheme alone nor a separation-based scheme alone is sufficient. We further show that in this joint source channel coding setting, the Gaussian setting is the worst scenario among the sources and channel noises with the same covariances.

  17. Dissecting the correlation structure of a bivariate phenotype: common genes or shared environment?

    Indian Academy of Sciences (India)

    Saurabh Ghosh

    2005-08-01

    High correlations between two quantitative traits may be either due to common genetic factors or common environmental factors or a combination of both. In this study, we develop statistical methods to extract the genetic contribution to the total correlation between the components of a bivariate phenotype. Using data on bivariate phenotypes and marker genotypes for sib-pairs, we propose a test for linkage between a common QTL and a marker locus based on the conditional cross-sib trait correlations (trait 1 of sib 1 – trait 2 of sib 2 and conversely) given the identity-by-descent (i.b.d.) sharing at the marker locus. We use Monte-Carlo simulations to evaluate the performance of the proposed test under different trait parameters and quantitative trait distributions. An application of the method is illustrated using data on two alcohol-related phenotypes from a project on the collaborative study on the genetics of alcoholism.

  18. Technical note: Towards a continuous classification of climate using bivariate colour mapping

    Directory of Open Access Journals (Sweden)

    A. J. Teuling

    2011-06-01

    Full Text Available Climate is often defined in terms of discrete classes. Here I use bivariate colour mapping to show that the global distribution of Köppen-Geiger climate classes can largely be reproduced by combining the simple means of two key states of the climate system (i.e., air temperature and relative humidity. This allows for a classification that is not only continuous in space, but can be applied at and transferred between timescales ranging from minutes to decades.

  19. Technical note: Towards a continuous classification of climate using bivariate colour mapping

    Directory of Open Access Journals (Sweden)

    A. J. Teuling

    2011-10-01

    Full Text Available Climate is often defined in terms of discrete classes. Here I use bivariate colour mapping to show that the global distribution of Köppen-Geiger climate classes can largely be reproduced by combining the simple means of two key states of the climate system (i.e. air temperature and relative humidity. This allows for a classification that is not only continuous in space, but can be applied at and transferred between timescales ranging from days to decades.

  20. Risk management activities of a non-industrial private forest owner with a bivariate utility function

    OpenAIRE

    Brunette, Marielle; Couture, Stéphane

    2014-01-01

    In this paper, we propose to analyse the choice of risk management activity made by a nonindustrial private forest owner who derives utility from consumption and from the sentimental value of the forest that bears a risk of disaster. We consider a bivariate utility function depending on consumption and sentimental value of forest. In this context, we analyse insurance and/or self-insurance decisions. We show that, under fair premium, full insurance is optimal only if the cross derivative of t...

  1. THE STRUCTURAL CHARACTERIZATION AND LOCALLY SUPPORTED BASES FOR BIVARIATE SUPER SPLINES

    Institute of Scientific and Technical Information of China (English)

    Zhi-qiang Xu; Ren-hong Wang

    2004-01-01

    Super splines are bivariate splines defined on triangulations, where the smoothness enforced at the vertices is larger than the smoothness enforced across the edges. In this paper, the smoothness conditions and conformality conditions for super splines are presented.Three locally supported super splines on type-1 triangulation are presented. Moreover, the criteria to select local bases is also given. By using local supported super spline function, avariation-diminishing operator is built. The approximation properties of the operator are also presented.

  2. THE BLOSSOM APPROACH TO THE DIMENSION OF THE BIVARIATE SPLINE SPACE

    Institute of Scientific and Technical Information of China (English)

    Yu-yu Feng; Zhi-bin Chen

    2000-01-01

    The dimension of the bivariate spline space S r n(Δ) may depend on geometric properties of triangulation Δ, in particular if n is not much bigger than r. In the paper, the blossom approach to the dimension count is outlined. It leads to the symbolic algorithm that gives the answer if a triangulation is singular or not. The approach is demonstrated on the case of Morgan-Scott partition and twice differentiable splines.

  3. Bivariate linkage analysis of the insulin resistance syndrome phenotypes on chromosome 7q.

    Science.gov (United States)

    Lehman, Donna M; Arya, Rector; Blangero, John; Almasy, Laura; Puppala, Sobha; Dyer, Thomas D; Leach, Robin J; O'Connell, Peter; Stern, Michael P; Duggirala, Ravindranath

    2005-04-01

    Metabolic abnormalities of the insulin resistance syndrome (IRS) have been shown to aggregate in families and to exhibit trait-pair correlations, suggesting a common genetic component. A broad region on chromosome 7q has been implicated in several studies to contain loci that cosegregate with IRS-related traits. However, it is not clear whether such loci have any common genetic (pleiotropic) influences on the correlated traits. Also, it is not clear whether the chromosomal regions contain more than one locus influencing the IRS-related phenotypes. In this study we present evidence for linkage of five IRS-related traits [body mass index (BMI), waist circumference (WC), In split proinsulin (LSPI), In triglycerides (LTG), and high-density lipoprotein cholesterol (HDLC)] to a region at 7q11.23. Subsequently, to gain further insight into the genetic component(s) mapping to this region, we explored whether linkage of these traits is due to pleiotropic effects using a bivariate linkage analytical technique, which has been shown to localize susceptibility regions with precision. Four hundred forty individuals from 27 Mexican American families living in Texas were genotyped for 19 highly polymorphic markers on chromosome 7. Multipoint variance component linkage analysis was used to identify genetic location(s) influencing IRS-related traits of obesity (BMI and WC), dyslipidemia (LTG and HDLC), and insulin levels (LSPI); the analysis identified a broad chromosomal region spanning approximately 24 cM. To gain more precision in localization, we used a bivariate linkage approach for each trait pair. These analyses suggest localization of most of these bivariate traits to an approximately 6-cM region near marker D7S653 [7q11.23, 103-109 cM; a maximum bivariate LOD of 4.51 was found for the trait pair HDLC and LSPI (the LODeq score is 3.94)]. We observed evidence of pleiotropic effects in this region on obesity and insulin-related trait pairs.

  4. An Improved Method for Karyotype Analyses of Marine Algae

    Institute of Scientific and Technical Information of China (English)

    WANG Juan; DAI Jixun

    2008-01-01

    Modified carbol fuchsin staining method was successfully introduced into the karyotype analyses of marine algae, in-cluding Porphyra, Undaria pinnatifida and Laminaria japonica. Haploid chromosomes were numbered clearly in the vegetative, spermatangial and conchosporangial cells of P. haitanensis and P. yezoensis. Diploid chromosomes were observed and numbered in immature conchosporangial cells of P. haitanensis and P. yezoensis. Pit-connections of Porphyra were also clearly demonstrated. Prophase chromosomes of conchocelis cells were also clearly stained with modified carbol fuchsin. One molar per liter hydrochloric hydrolysis at 60℃ for 7-8min is necessary for getting transparent cytoplasm for conchosporangial karyotype analysis of Porphyra. Staining effects of the three methods using iron alum acetocarmine, aceto-iron-haematoxylin-chloral hydrate and modified carbol fuchsin were compared on the vegetative, sperrnatangial and conchosporangial cells of Porphyra and the gametophytes of U. pinnati-fida and L. japonica. Among the three methods, the modified carbol fuchsin method gave the best result of deep staining and good contrast between nucleus and cytoplasm.

  5. Karyotypic analysis of Skimmia japonica (Rutaceae) and related species.

    Science.gov (United States)

    Fukuda, Tomoko; Naiki, Akiyo; Nagamasu, Hidetoshi

    2007-01-01

    A karyotypic analysis of three species of Skimmia (Rutaceae) in East Asia was performed that examined 88 individuals from 53 localities. Chromosome numbers of S. japonica, S. reevesiana and S. arisanensis were 2n=30, 31, 32 (=30+0-2B), 2n=60 and 2n=60, respectively. The chromosome number of S. arisanensis was reported for the first time. All species had a large chromosome pair or quartet (the first pair or quartet) with a median-submedian centromere in the karyotype. In S. japonica the arm ratio of this first pair was considerably variable and showed a geographical pattern. In the northern half of the distribution range, Sakhalin, Hokkaido, Honshu, Shikoku and part of Kyushu, the arm ratio was 1-1.2, while in the southern half, part of Kyushu, Ryukyu and Taiwan, the arm ratio was very variable and ranged from 1.2 to 2.4. In S. japonica the first pair was sometimes rather heteromorphic; however, the heteromorphism was not related to sex of the plant.

  6. Geometric correction of deformed chromosomes for automatic Karyotyping.

    Science.gov (United States)

    Khan, Shadab; DSouza, Alisha; Sanches, João; Ventura, Rodrigo

    2012-01-01

    Automatic Karyotyping is the process of classifying chromosomes from an unordered karyogram into their respective classes to create an ordered karyogram. Automatic karyotyping algorithms typically perform geometrical correction of deformed chromosomes for feature extraction; these features are used by classifier algorithms for classifying the chromosomes. Karyograms of bone marrow cells are known to have poor image quality. An example of such karyograms is the Lisbon-K(1) (LK(1)) dataset that is used in our work. Thus, to correct the geometrical deformation of chromosomes from LK(1), a robust method to obtain the medial axis of the chromosome was necessary. To address this problem, we developed an algorithm that uses the seed points to make a primary prediction. Subsequently, the algorithm computes the distance of boundary from the predicted point, and the gradients at algorithm-specified points on the boundary to compute two auxiliary predictions. Primary prediction is then corrected using auxiliary predictions, and a final prediction is obtained to be included in the seed region. A medial axis is obtained this way, which is further used for geometrical correction of the chromosomes. This algorithm was found capable of correcting geometrical deformations in even highly distorted chromosomes with forked ends.

  7. Nucleophosmin mutations in childhood acute myelogenous leukemia with normal karyotype.

    Science.gov (United States)

    Cazzaniga, Giovanni; Dell'Oro, Maria Grazia; Mecucci, Cristina; Giarin, Emanuela; Masetti, Riccardo; Rossi, Vincenzo; Locatelli, Franco; Martelli, Massimo F; Basso, Giuseppe; Pession, Andrea; Biondi, Andrea; Falini, Brunangelo

    2005-08-15

    Nucleophosmin (NPM) is a nucleocytoplasmic shuttling protein involved in leukemia-associated chromosomal translocations, and it regulates the alternate reading frame (ARF)-p53 tumor-suppressor pathway. Recently, it has been demonstrated that mutations of the NPM1 gene alter the protein at its C-terminal, causing its cytoplasmic localization. Cytoplasmic NPM was detected in 35% of adult patients with primary non-French-American-British (FAB) classification M3 acute myeloid leukemia (AML), associated mainly with normal karyotype. We evaluated the prevalence of the NPM1 gene mutation in non-M3 childhood AML patients enrolled in the ongoing Associazione Italiana di Ematologia e Oncologia Pediatrica (AIEOP-AML02) protocol in Italy. NPM1 mutations were found in 7 (6.5%) of 107 successfully analyzed patients. NPM1-mutated patients carried a normal karyotype (7/26, 27.1%) and were older in age. Thus, the NPM1 mutation is a frequent abnormality in AML patients without known genetic marker; the mutation may represent a new target to monitor minimal residual disease in AML and a potential candidate for alternative and targeted treatments.

  8. Galaxy And Mass Assembly (GAMA): Bivariate functions of H$\\alpha$ star forming galaxies

    CERN Document Server

    Gunawardhana, M L P; Taylor, E N; Bland-Hawthorn, J; Norberg, P; Baldry, I K; Loveday, J; Owers, M S; Wilkins, S M; Colless, M; Brown, M J I; Driver, S P; Alpaslan, M; Brough, S; Cluver, M; Croom, S; Kelvin, L; Lara-López, M A; Liske, J; López-Sánchez, A R; Robotham, A S G

    2014-01-01

    We present bivariate luminosity and stellar mass functions of H$\\alpha$ star forming galaxies drawn from the Galaxy And Mass Assembly (GAMA) survey. While optically deep spectroscopic observations of GAMA over a wide sky area enable the detection of a large number of $0.001<{SFR}_{H\\alpha}$ (M$_{\\odot}$ yr$^{-1}$)$<100$ galaxies, the requirement for an H$\\alpha$ detection in targets selected from an $r$-band magnitude limited survey leads to an incompleteness due to missing optically faint star forming galaxies. Using $z<0.1$ bivariate distributions as a reference we model the higher-$z$ distributions, thereby approximating a correction for the missing optically faint star forming galaxies to the local SFR and stellar mass densities. Furthermore, we obtain the $r$-band LFs and stellar mass functions of H$\\alpha$ star forming galaxies from the bivariate LFs. As our sample is selected on the basis of detected H$\\alpha$ emission, a direct tracer of on-going star formation, this sample represents a true ...

  9. Robust bivariate error detection in skewed data with application to historical radiosonde winds

    KAUST Repository

    Sun, Ying

    2017-01-18

    The global historical radiosonde archives date back to the 1920s and contain the only directly observed measurements of temperature, wind, and moisture in the upper atmosphere, but they contain many random errors. Most of the focus on cleaning these large datasets has been on temperatures, but winds are important inputs to climate models and in studies of wind climatology. The bivariate distribution of the wind vector does not have elliptical contours but is skewed and heavy-tailed, so we develop two methods for outlier detection based on the bivariate skew-t (BST) distribution, using either distance-based or contour-based approaches to flag observations as potential outliers. We develop a framework to robustly estimate the parameters of the BST and then show how the tuning parameter to get these estimates is chosen. In simulation, we compare our methods with one based on a bivariate normal distribution and a nonparametric approach based on the bagplot. We then apply all four methods to the winds observed for over 35,000 radiosonde launches at a single station and demonstrate differences in the number of observations flagged across eight pressure levels and through time. In this pilot study, the method based on the BST contours performs very well.

  10. Source apportionment advances using polar plots of bivariate correlation and regression statistics

    Science.gov (United States)

    Grange, Stuart K.; Lewis, Alastair C.; Carslaw, David C.

    2016-11-01

    This paper outlines the development of enhanced bivariate polar plots that allow the concentrations of two pollutants to be compared using pair-wise statistics for exploring the sources of atmospheric pollutants. The new method combines bivariate polar plots, which provide source characteristic information, with pair-wise statistics that provide information on how two pollutants are related to one another. The pair-wise statistics implemented include weighted Pearson correlation and slope from two linear regression methods. The development uses a Gaussian kernel to locally weight the statistical calculations on a wind speed-direction surface together with variable-scaling. Example applications of the enhanced polar plots are presented by using routine air quality data for two monitoring sites in London, United Kingdom for a single year (2013). The London examples demonstrate that the combination of bivariate polar plots, correlation, and regression techniques can offer considerable insight into air pollution source characteristics, which would be missed if only scatter plots and mean polar plots were used for analysis. Specifically, using correlation and slopes as pair-wise statistics, long-range transport processes were isolated and black carbon (BC) contributions to PM2.5 for a kerbside monitoring location were quantified. Wider applications and future advancements are also discussed.

  11. Density Estimation for Protein Conformation Angles Using a Bivariate von Mises Distribution and Bayesian Nonparametrics.

    Science.gov (United States)

    Lennox, Kristin P; Dahl, David B; Vannucci, Marina; Tsai, Jerry W

    2009-06-01

    Interest in predicting protein backbone conformational angles has prompted the development of modeling and inference procedures for bivariate angular distributions. We present a Bayesian approach to density estimation for bivariate angular data that uses a Dirichlet process mixture model and a bivariate von Mises distribution. We derive the necessary full conditional distributions to fit the model, as well as the details for sampling from the posterior predictive distribution. We show how our density estimation method makes it possible to improve current approaches for protein structure prediction by comparing the performance of the so-called "whole" and "half" position distributions. Current methods in the field are based on whole position distributions, as density estimation for the half positions requires techniques, such as ours, that can provide good estimates for small datasets. With our method we are able to demonstrate that half position data provides a better approximation for the distribution of conformational angles at a given sequence position, therefore providing increased efficiency and accuracy in structure prediction.

  12. A Case Study of Bivariate Rainfall Frequency Analysis Using Copula in South Korea

    Science.gov (United States)

    Joo, K.; Shin, J.; Kim, W.; Heo, J.

    2011-12-01

    For a given rainfall event, it can be characterized into some properties such as rainfall depth (amount), duration, and intensity. By considering these factors simultaneously, the actual phenomenon of rainfall event can be explained better than univariate model. Using bivariate model, rainfall quantiles can be obtained for a given return period without any limitations of specific rainfall duration. For bivariate(depth and duration) frequency analysis, copula model was used in this study. Recently, copula model has been studied widely for hydrological field. And it is more flexible for marginal distribution than other conventional bivariate models. In this study, five weather stations are applied for frequency analysis from Korea Meteorological Administration (KMA) which are Seoul, Chuncheon, Gangneung, Wonju, and Chungju stations. These sites have 38 ~ 50 years of hourly precipitation data. Inter-event time definition is used for identification of rainfall events. And three copula models (Gumbel-Hougaard, Frank, and Joe) are applied in this study. Maximum pseudo-likelihood estimation method is used to estimate the parameter of copula (θ). The normal, generalized extreme value, Gumbel, 3-parameter gamma, and generalized logistic distributions are examined for marginal distribution. As a result, rainfall quantiles can be obtained for any rainfall durations for a given return period by calculating conditional probability. In addition, rainfall quantiles from copula models are compared to those from univariate model.

  13. Bayesian framework for parametric bivariate accelerated lifetime modeling and its application to hospital acquired infections.

    Science.gov (United States)

    Bilgili, D; Ryu, D; Ergönül, Ö; Ebrahimi, N

    2016-03-01

    Infectious diseases that can be spread directly or indirectly from one person to another are caused by pathogenic microorganisms such as bacteria, viruses, parasites, or fungi. Infectious diseases remain one of the greatest threats to human health and the analysis of infectious disease data is among the most important application of statistics. In this article, we develop Bayesian methodology using parametric bivariate accelerated lifetime model to study dependency between the colonization and infection times for Acinetobacter baumannii bacteria which is leading cause of infection among the hospital infection agents. We also study their associations with covariates such as age, gender, apache score, antibiotics use 3 months before admission and invasive mechanical ventilation use. To account for singularity, we use Singular Bivariate Extreme Value distribution to model residuals in Bivariate Accelerated lifetime model under the fully Bayesian framework. We analyze a censored data related to the colonization and infection collected in five major hospitals in Turkey using our methodology. The data analysis done in this article is for illustration of our proposed method and can be applied to any situation that our model can be used.

  14. Simultaneous determination of Nifuroxazide and Drotaverine hydrochloride in pharmaceutical preparations by bivariate and multivariate spectral analysis

    Science.gov (United States)

    Metwally, Fadia H.

    2008-02-01

    The quantitative predictive abilities of the new and simple bivariate spectrophotometric method are compared with the results obtained by the use of multivariate calibration methods [the classical least squares (CLS), principle component regression (PCR) and partial least squares (PLS)], using the information contained in the absorption spectra of the appropriate solutions. Mixtures of the two drugs Nifuroxazide (NIF) and Drotaverine hydrochloride (DRO) were resolved by application of the bivariate method. The different chemometric approaches were applied also with previous optimization of the calibration matrix, as they are useful in simultaneous inclusion of many spectral wavelengths. The results found by application of the bivariate, CLS, PCR and PLS methods for the simultaneous determinations of mixtures of both components containing 2-12 μg ml -1 of NIF and 2-8 μg ml -1 of DRO are reported. Both approaches were satisfactorily applied to the simultaneous determination of NIF and DRO in pure form and in pharmaceutical formulation. The results were in accordance with those given by the EVA Pharma reference spectrophotometric method.

  15. Electrophoretic karyotype polymorphism of sibling species of the Paramecium aurelia complex.

    Science.gov (United States)

    Nekrasova, Irina V; Przyboś, Ewa; Rautian, Maria S; Potekhin, Alexey A

    2010-01-01

    Variability of karyotypes is one of the main mechanisms of speciation in organisms. Electrophoretic karyotypes of the macronucleus (MAC) obtained by pulsed-field gel electrophoresis were compared for 86 strains of all 15 sibling species of the Paramecium aurelia complex in order to determine if karyotype differences corresponded to biological species boundaries. Because the electrophoretic karyotype of the MAC reflects indirectly the frequency and distribution of fragmentation sites in the micronuclear (MIC) chromosomes, any change in MAC electrophoretic karyotype may be a marker of certain chromosomal mutations in the MIC. Thirteen main variants of electrophoretic MAC karyotypes were observed in this species complex. Ten of them appeared to correspond to biological species, while the three other variants characterized several species each. Intraspecific polymorphism was observed for several species: in some cases a certain variant of MAC karyotype was specific for all strains from the same part of the world. Distribution of the MAC karyotype variants along molecular phylogenetic trees of the P. aurelia complex shows that isolation of each species or group of species of this complex was accompanied by divergence in the molecular organization of the genome. © 2010 The Author(s). Journal of Eukaryotic Microbiology © 2010 International Society of Protistologists.

  16. Genomic array as compared to karyotyping in myelodysplastic syndromes in a prospective clinical trial

    NARCIS (Netherlands)

    Stevens-Kroef, Marian J; Olde Weghuis, Daniel; ElIdrissi-Zaynoun, Najat; van der Reijden, Bert; Cremers, Eline M P; Alhan, Canan; Westers, Theresia M; Visser-Wisselaar, Heleen A; Chitu, Dana A; Cunha, Sonia M; Vellenga, Edo; Klein, Saskia K; Wijermans, Pierre; de Greef, Georgine E; Schaafsma, M Ron; Muus, Petra; Ossenkoppele, Gert J; van de Loosdrecht, Arjan A; Jansen, Joop H

    2017-01-01

    Karyotyping is considered as the gold standard in the genetic subclassification of myelodysplastic syndrome (MDS). Oligo/SNP-based genomic array profiling is a high-resolution tool that also enables genome wide analysis. We compared karyotyping with oligo/SNP-based array profiling in 104 MDS patient

  17. Normal karyotype mosaicism in adult AML patients with adverse-risk and undefined karyotype: preliminary report of treatment outcomes after hematopoietic stem cell transplantation.

    Science.gov (United States)

    Yoon, Jae-Ho; Kim, Hee-Je; Shin, Seung-Hwan; Yahng, Seung-Ah; Cho, Byung-Sik; Eom, Ki-Seong; Kim, Yoo-Jin; Lee, Seok; Min, Chang-Ki; Cho, Seok-Goo; Kim, Dong-Wook; Lee, Jong-Wook; Min, Woo-Sung; Park, Chong-Won

    2013-06-01

    Karyotype analysis in acute myeloid leukemia (AML) is one of the powerful prognostic factors for complete remission (CR), relapse, and overall survival (OS). Cytogenetic mosaicism is considered to be one of the important characteristics in expression of phenotypic manifestations. However, it has not come into focus due to emerging molecular biological approaches and the results of a number of mutation studies. Clinical correlates and prognostic relevance of mosaicism were evaluated in 163 AML patients [adverse-risk karyotypes (n = 72) and undefined karyotypes (n = 91)]. All patients were treated by induction and consolidation chemotherapies and finally went on hematopoietic stem cell transplantations (HSCT). Patients were divided into two subgroups, either with or without normal karyotype (NK) mosaicism. Seventy patients exhibited NK mosaicism and 93 did not. There were no significant differences in age, gender, chemotherapy cycles to achieve CR, HSCT donor type, source or intensity properties between the two subgroups. We found that NK mosaicism remaining in adverse-risk and undefined karyotype at diagnosis significantly correlates with better OS (p = 0.001) and lower CIR (p = 0.021) rate after HSCT. Our data show that the poor prognostic properties of unfavorable risk karyotype can be overcome to a great extent by allogeneic HSCT and chronic GVHD, especially in the subgroup with NK mosaicism. Cytogenetic mosaicism at initial diagnosis can be an influential factor for survival outcomes, even after HSCT.

  18. Karyotyping human and mouse cells using probes from single-sorted chromosomes and open source software.

    Science.gov (United States)

    Potapova, Tamara A; Unruh, Jay R; Box, Andrew C; Bradford, William D; Seidel, Christopher W; Slaughter, Brian D; Sivagnanam, Shamilene; Wu, Yuping; Li, Rong

    2015-12-01

    Multispectral karyotyping analyzes all chromosomes in a single cell by labeling them with chromosome-specific probes conjugated to unique combinations of fluorophores. Currently available multispectral karyotyping systems require the purchase of specialized equipment and reagents. However, conventional laser scanning confocal microscopes that are capable of separating multiple overlapping emission spectra through spectral imaging and linear unmixing can be utilized for classifying chromosomes painted with multicolor probes. Here, we generated multicolor chromosome paints from single-sorted human and mouse chromosomes and developed the Karyotype Identification via Spectral Separation (KISS) analysis package, a set of freely available open source ImageJ tools for spectral unmixing and karyotyping. Chromosome spreads painted with our multispectral probe sets can be imaged on widely available spectral laser scanning confocal microscopes and analyzed using our ImageJ tools. Together, our probes and software enable academic labs with access to a laser-scanning spectral microscope to perform multicolor karyotyping in a cost-effective manner.

  19. A new sympatric region for distinct karyotypic forms of Hoplias malabaricus (Pisces, Erythrinidae

    Directory of Open Access Journals (Sweden)

    G. G. Born

    Full Text Available Specimens of Hoplias malabaricus from Lagoa Carioca, an isolated lake of the Rio Doce State Park (state of Minas Gerais, Brazil, were cytogenetically studied. The diploid number was found to be constant, i.e., 2n = 42 chromosomes, although two karyotypic forms were found: karyotype A, characterized by 22M + 20SM chromosomes, observed only in a male specimen, and karyotype B, characterized by 24M + 16SM + 2ST and 24M + 17SM + 1ST chromosomes in female and male specimens, respectively. This sex difference found in karyotype B is related to an XX/XY sex chromosome system. Another female specimen of H. malabaricus, also carrying karyotype A, had previously been found in the same lake. The available data indicate that two sympatric cytotypes of H. malabaricus exist in the Lagoa Carioca, with cytotype A occurring at a lower frequency and differing from cytotype B by undifferentiated sex chromosomes.

  20. 二元二次函数逼近的存在性和局部性%The Existence and Local Behavior of the Bivariate Quadratic Function Approximation

    Institute of Scientific and Technical Information of China (English)

    郑成德

    2006-01-01

    This paper analysis the local behavior of the bivariate quadratic function approximation to a bivariate function which has a given power series expansion about the origin. It function and that this function is analytic in a neighborhood of the origin.

  1. Mouse Karyotype Obtained by Combining DAPI Staining with Image Analysis

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    In this study, mitotic metaphase chromosomes in mouse were identified by a new chromosome fluorescence banding technique combining DAPI staining with image analysis. Clear 4', 6-diamidino-2-phenylindole (DAPI) multiple bands like G-bands could be produced in mouse. The MetaMorph software was then used to generate linescans of pixel intensity for the banded chromosomes from short arm to long arm. These linescans were sufficient not only to identify each individual chromosome but also analyze the physical sites of bands in chromosome. Based on the results, the clear and accurate karyotype of mouse metaphase chromosomes was established. The technique is therefore considered to be a new method for cytological studies of mouse.

  2. Molecular Karyotype of the White Rot Fungus Pleurotus ostreatus

    Science.gov (United States)

    Larraya, Luis M.; Pérez, Gumer; Peñas, María M.; Baars, Johan J. P.; Mikosch, Thomas S. P.; Pisabarro, Antonio G.; Ramírez, Lucía

    1999-01-01

    The white rot fungus Pleurotus ostreatus is an edible basidiomycete with increasing agricultural and biotechnological importance. Genetic manipulation and breeding of this organism are restricted because of the lack of knowledge about its genomic structure. In this study, we analyzed the genomic constitution of P. ostreatus by using pulsed-field gel electrophoresis optimized for the separation of its chromosomes. We have determined that it contains 11 pairs of chromosomes with sizes ranging from 1.4 to 4.7 Mbp. In addition to chromosome separation, the use of single-copy DNA probes allowed us to resolve the ambiguities caused by chromosome comigration. When the two nuclei present in the dikaryon were separated by protoplasting, analysis of their karyotypes revealed length polymorphisms affecting various chromosomes. This is, to our knowledge, the clearest chromosome separation available for this species. PMID:10427028

  3. The karyotype of Cathorops sp, a marine catfish from Brazil

    Directory of Open Access Journals (Sweden)

    Vicente Gomes

    1992-01-01

    Full Text Available Cathorops sp has the diploid number of 54 chromosomes. The karyotype comprises lm + sm, 6m, 6sm and 14st pairs. This result is compared with those of other species of Ariidae, mainly Ariopsis felis and Arius dussumieri, found in literature.Foram realizados estudos cromossômicos em 25 espécimens de Cathorops sp pelo método de air-drying. O número modal diplóide encontrado foi de 54 cromossomos sendo 1 par m + sm, 6 pares m, 6 pares sm e 14 pares st. Os resultados são comparados com dados da literatura referentes a cromossomos de outros ariídeos, principalmente de Ariopsis felis e Arius dussumieri.

  4. Genomic and karyotypic variation in Drosophila parasitoids (Hymenoptera, Cynipoidea, Figitidae

    Directory of Open Access Journals (Sweden)

    Vladimir Gokhman

    2011-08-01

    Full Text Available Drosophila melanogaster Meigen, 1830 has served as a model insect for over a century. Sequencing of the 11 additional Drosophila Fallen, 1823 species marks substantial progress in comparative genomics of this genus. By comparison, practically nothing is known about the genome size or genome sequences of parasitic wasps of Drosophila. Here, we present the first comparative analysis of genome size and karyotype structures of Drosophila parasitoids of the Leptopilina Förster, 1869 and Ganaspis Förster, 1869 species. The gametic genome size of Ganaspis xanthopoda (Ashmead, 1896 is larger than those of the three Leptopilina species studied. The genome sizes of all parasitic wasps studied here are also larger than those known for all Drosophila species. Surprisingly, genome sizes of these Drosophila parasitoids exceed the average value known for all previously studied Hymenoptera. The haploid chromosome number of both Leptopilina heterotoma (Thomson, 1862 and L. victoriae Nordlander, 1980 is ten. A chromosomal fusion appears to have produced a distinct karyotype for L. boulardi (Barbotin, Carton et Keiner-Pillault, 1979 (n = 9, whose genome size is smaller than that of wasps of the L. heterotoma clade. Like L. boulardi, the haploid chromosome number for G. xanthopoda is also nine. Our studies reveal a positive, but non linear, correlation between the genome size and total chromosome length in Drosophila parasitoids. These Drosophila parasitoids differ widely in their host range, and utilize different infection strategies to overcome host defense. Their comparative genomics, in relation to their exceptionally well-characterized hosts, will prove to be valuable for understanding the molecular basis of the host-parasite arms race and how such mechanisms shape the genetic structures of insect communities.

  5. Karyotype similarity between two sympatric Schizodon fish species (Anostomidae, Characiformes from the Paraguay River basin

    Directory of Open Access Journals (Sweden)

    Martins Cesar

    1998-01-01

    Full Text Available Fish of the neotropical family Anostomidae generally show low karyotype variability. Nevertheless, karyotype variants have been identified within some genera, providing information about their evolutionary history. Species of the genus Schizodon show a high degree of morphological and ecological similarity compared to other anostomids. In the present study, karyotype characteristics of Schizodon borelli (40 individuals and S. isognathum (one individual, two sympatric species found in the Paraguay River basin, were studied. C-banding, GC-specific fluorochrome Mitramycin (MM and Ag staining as well as in situ hybridization (FISH with rDNA probes were used. The karyotypes of these species were found to be very similar. Only two NORs were detected in a common chromosome pair of both species under Ag, MM and FISH treatments. Similar heterochromatin distribution patterns were also observed. A parallelism between the small karyotype variation and low morphological and ecological divergence observed for this genus is discussed. Their karyotype homogeneity might be related to populational features or, alternatively, might indicate that the maintenance of a symmetric and conserved karyotype structure represents optimal genomic organization among these fish.

  6. Genome downsizing and karyotype constancy in diploid and polyploid congeners: a model of genome size variation.

    Science.gov (United States)

    Poggio, Lidia; Realini, María Florencia; Fourastié, María Florencia; García, Ana María; González, Graciela Esther

    2014-06-26

    Evolutionary chromosome change involves significant variation in DNA amount in diploids and genome downsizing in polyploids. Genome size and karyotype parameters of Hippeastrum species with different ploidy level were analysed. In Hippeastrum, polyploid species show less DNA content per basic genome than diploid species. The rate of variation is lower at higher ploidy levels. All the species have a basic number x = 11 and bimodal karyotypes. The basic karyotypes consist of four short metacentric chromosomes and seven large chromosomes (submetacentric and subtelocentric). The bimodal karyotype is preserved maintaining the relative proportions of members of the haploid chromosome set, even in the presence of genome downsizing. The constancy of the karyotype is maintained because changes in DNA amount are proportional to the length of the whole-chromosome complement and vary independently in the long and short sets of chromosomes. This karyotype constancy in taxa of Hippeastrum with different genome size and ploidy level indicates that the distribution of extra DNA within the complement is not at random and suggests the presence of mechanisms selecting for constancy, or against changes, in karyotype morphology.

  7. Bivariate Drought Analysis Using Streamflow Reconstruction with Tree Ring Indices in the Sacramento Basin, California, USA

    Directory of Open Access Journals (Sweden)

    Jaewon Kwak

    2016-03-01

    Full Text Available Long-term streamflow data are vital for analysis of hydrological droughts. Using an artificial neural network (ANN model and nine tree-ring indices, this study reconstructed the annual streamflow of the Sacramento River for the period from 1560 to 1871. Using the reconstructed streamflow data, the copula method was used for bivariate drought analysis, deriving a hydrological drought return period plot for the Sacramento River basin. Results showed strong correlation among drought characteristics, and the drought with a 20-year return period (17.2 million acre-feet (MAF per year in the Sacramento River basin could be considered a critical level of drought for water shortages.

  8. Mortality as a bivariate function of age and size in indeterminate growers

    DEFF Research Database (Denmark)

    Colchero, Fernando; Schaible, Ralf

    2014-01-01

    developed a model that treats age- and size-specific mortality as a bivariate process. This method facilitates the exploration of the underlying (unobserved) contributions of age and size to mortality. We show that, in theory, a population can show declining mortality with age and size while the underlying...... be made using a simple Bayesian model, and how all of the mortality parameters are accurately retrieved. We then apply the methods to published datasets on water pythons and freshwater mussels and test different hypotheses regarding the effects of age and size on mortality. In both cases we found age...

  9. THEOREMS OF PEANO'S TYPE FOR BIVARIATE FUNCTIONS AND OPTIMAL RECOVERY OF LINEAR FUNCTIONALS

    Institute of Scientific and Technical Information of China (English)

    N.K. Dicheva

    2001-01-01

    The best recovery of a linear functional Lf , f =f (x,y), on thebasis of given linear functionals Ljf ,j=1,2, … ,N in a sense of Sard has been investigated, using analogy of Peano's theorem. The best recovery of a bivariate function by given scattered data has been obtained in a simple analytical form as a special case.CLC Number:O17 Document ID:AAuthor Resume:Natasha K. Dicheva ,e-mail: dichevan_fgs@uacg, acad. bg References:[1]Rudin,W. ,Principles of Mathematical Analysis,2ed. ,McGraw-Hill Book Co. ,New York,1964.[2]Rudin,W. ,Real and Complex Analysis,McGraw-Hill publishing Co. ,New York,1976.[3]Hewitt,E. and Stromberg,K. ,Real and Abstract Analysis,Springer-Verlag,New York,Berlin,1965.[4]Lusternik,L. and Sobolev,V. ,Elements of the Functional Analysis,Izd. Nauka,Moskva,1965 (in Russian).[5]Sard,A.,Integral Representation of Remainders Duke Math. J.,15(1948),333-345.[6]Sard,A. ,Linear Approximation,Amer. Math. Soc. ,Math. Surverys,9,1963.[7]Smolyak,S.A. ,On the optimal reconvery of Functions and Functionals of Them,Ph. D. Thesis,Moscow State University,1965.[8]Nielson,G.,Bivariate Spline Functions and the Approximation of Linear Functionals,Numer.Math.,21(1973),138-160.[9]Mansfield,L.E. ,Optimal Approximations and Error Bounds in Spaces of Bivariate Functions,J. Approx. Theory 5(1972),77-96.[10]Mansfield,L.E. ,On the Optimal Approximation of Linear Functionals in Spaces of Bivariate Functions,SIAM J. Numer. Anal ,8(1971),115-126.[11]Ritter,D. ,Two Dimensional Spline Functions and best Approximation of Linear Functionals,J. Approx. Theory,3(1970),352-368.[12]Laurent,P.J. ,Approximation et optimisation,Hermann,Paris,1972.[13]Bojanov,B. ,Hakopian,H.A. and Sahakian,A.A. ,Spline Functions and Multivariate Interpolations,Kluwer Academic Publishers,Dordrecht,1993.[14]Dicheve,N.K.,On the best Recovery of Linear Functional and its Applications,Boundary Elements XXI,eds. C.A. Brebbia and H. Power,WIT Press,Southampton,Boston,(1999),739-747.Manuscript Received

  10. An efficient algorithm for generating random number pairs drawn from a bivariate normal distribution

    Science.gov (United States)

    Campbell, C. W.

    1983-01-01

    An efficient algorithm for generating random number pairs from a bivariate normal distribution was developed. Any desired value of the two means, two standard deviations, and correlation coefficient can be selected. Theoretically the technique is exact and in practice its accuracy is limited only by the quality of the uniform distribution random number generator, inaccuracies in computer function evaluation, and arithmetic. A FORTRAN routine was written to check the algorithm and good accuracy was obtained. Some small errors in the correlation coefficient were observed to vary in a surprisingly regular manner. A simple model was developed which explained the qualities aspects of the errors.

  11. A comparison between multivariate and bivariate analysis used in marketing research

    Directory of Open Access Journals (Sweden)

    Constantin, C.

    2012-01-01

    Full Text Available This paper is about an instrumental research conducted in order to compare the information given by two multivariate data analysis in comparison with the usual bivariate analysis. The outcomes of the research reveal that sometimes the multivariate methods use more information from a certain variable, but sometimes they use only a part of the information considered the most important for certain associations. For this reason, a researcher should use both categories of data analysis in order to obtain entirely useful information.

  12. Clarification of anomalies in the application of a 2La molecular karyotyping method for the malaria vector Anopheles gambiae

    Directory of Open Access Journals (Sweden)

    Knols Bart GJ

    2008-12-01

    Full Text Available Abstract Background Chromosomal inversions have been considered to be potentially important barriers to gene flow in many groups of animals through their effect on recombination suppression in heterokaryotypic individuals. Inversions can also enhance local adaptation in different groups of organisms and may often represent species-specific differences among closely related taxa. We conducted a study to characterize the 2La inversion karyotypes of An. gambiae sensu stricto mosquitoes sampled from the Kilombero Valley (Tanzania using a newly designed PCR assay. Results We frequently encountered a (687 bp fragment which was only present in the Kilombero Valley populations. Laboratory crossing between An. gambiae s.s. from Njage (Tanzania and Kisumu (Western Kenya populations resulted in F1 offspring carrying the observed fragment. Karyotype analysis did not indicate differences in 2La region chromosome morphology between individuals carrying the PCR fragments, the 207 bp fragment, or the 687 bp fragement. Conclusion The observed insertion/deletion polymorphism within the region amplified by the 2La PCR diagnostic test may confound the interpretation of this assay and should be well considered in order to maintain an acceptable level of reliability in studies using this assay to describe the distribution and frequency of the 2La inversion among natural populations of An. gambiae s.s.

  13. Karyotypic conservatism in samples of Characidium cf. zebra (Teleostei, Characiformes, Crenuchidae): Physical mapping of ribosomal genes and natural triploidy.

    Science.gov (United States)

    Pansonato-Alves, José Carlos; Oliveira, Claudio; Foresti, Fausto

    2011-04-01

    Basic and molecular cytogenetic analyses were performed in specimens of Characidium cf. zebra from five collection sites located throughout the Tietê, Paranapanema and Paraguay river basins. The diploid number in specimens from all samples was 2n = 50 with a karyotype composed of 32 metacentric and 18 submetacentric chromosomes in both males and females. Constitutive heterochromatin was present at the centromeric regions of all chromosomes and pair 23, had additional interstitial heterochromatic blocks on its long arms. The nucleolar organizer regions (NORs) were located on the long arms of pair 23, while the 5S rDNA sites were detected in different chromosomes among the studied samples. One specimen from the Alambari river was a natural triploid and had two extra chromosomes, resulting in 2n = 77. The remarkable karyotypic similarity among the specimens of C. cf. zebra suggests a close evolutionary relationship. On the other hand, the distinct patterns of 5S rDNA distribution may be the result of gene flow constraints during their evolutionary history.

  14. Karyotypic conservatism in samples of Characidium cf. zebra (Teleostei, Characiformes, Crenuchidae: physical mapping of ribosomal genes and natural triploidy

    Directory of Open Access Journals (Sweden)

    José Carlos Pansonato-Alves

    2011-01-01

    Full Text Available Basic and molecular cytogenetic analyses were performed in specimens of Characidium cf. zebra from five collection sites located throughout the Tietê, Paranapanema and Paraguay river basins. The diploid number in specimens from all samples was 2n = 50 with a karyotype composed of 32 metacentric and 18 submetacentric chromosomes in both males and females. Constitutive heterochromatin was present at the centromeric regions of all chromosomes and pair 23, had additional interstitial heterochromatic blocks on its long arms. The nucleolar organizer regions (NORs were located on the long arms of pair 23, while the 5S rDNA sites were detected in different chromosomes among the studied samples. One specimen from the Alambari river was a natural triploid and had two extra chromosomes, resulting in 2n = 77. The remarkable karyotypic similarity among the specimens of C. cf. zebra suggests a close evolutionary relationship. On the other hand, the distinct patterns of 5S rDNA distribution may be the result of gene flow constraints during their evolutionary history.

  15. An integrated user-friendly ArcMAP tool for bivariate statistical modeling in geoscience applications

    Science.gov (United States)

    Jebur, M. N.; Pradhan, B.; Shafri, H. Z. M.; Yusof, Z.; Tehrany, M. S.

    2014-10-01

    Modeling and classification difficulties are fundamental issues in natural hazard assessment. A geographic information system (GIS) is a domain that requires users to use various tools to perform different types of spatial modeling. Bivariate statistical analysis (BSA) assists in hazard modeling. To perform this analysis, several calculations are required and the user has to transfer data from one format to another. Most researchers perform these calculations manually by using Microsoft Excel or other programs. This process is time consuming and carries a degree of uncertainty. The lack of proper tools to implement BSA in a GIS environment prompted this study. In this paper, a user-friendly tool, BSM (bivariate statistical modeler), for BSA technique is proposed. Three popular BSA techniques such as frequency ratio, weights-of-evidence, and evidential belief function models are applied in the newly proposed ArcMAP tool. This tool is programmed in Python and is created by a simple graphical user interface, which facilitates the improvement of model performance. The proposed tool implements BSA automatically, thus allowing numerous variables to be examined. To validate the capability and accuracy of this program, a pilot test area in Malaysia is selected and all three models are tested by using the proposed program. Area under curve is used to measure the success rate and prediction rate. Results demonstrate that the proposed program executes BSA with reasonable accuracy. The proposed BSA tool can be used in numerous applications, such as natural hazard, mineral potential, hydrological, and other engineering and environmental applications.

  16. Bivariate Mixed Effects Analysis of Clustered Data with Large Cluster Sizes.

    Science.gov (United States)

    Zhang, Daowen; Sun, Jie Lena; Pieper, Karen

    2016-10-01

    Linear mixed effects models are widely used to analyze a clustered response variable. Motivated by a recent study to examine and compare the hospital length of stay (LOS) between patients undertaking percutaneous coronary intervention (PCI) and coronary artery bypass graft (CABG) from several international clinical trials, we proposed a bivariate linear mixed effects model for the joint modeling of clustered PCI and CABG LOS's where each clinical trial is considered a cluster. Due to the large number of patients in some trials, commonly used commercial statistical software for fitting (bivariate) linear mixed models failed to run since it could not allocate enough memory to invert large dimensional matrices during the optimization process. We consider ways to circumvent the computational problem in the maximum likelihood (ML) inference and restricted maximum likelihood (REML) inference. Particularly, we developed an expected and maximization (EM) algorithm for the REML inference and presented an ML implementation using existing software. The new REML EM algorithm is easy to implement and computationally stable and efficient. With this REML EM algorithm, we could analyze the LOS data and obtained meaningful results.

  17. A method of moments to estimate bivariate survival functions: the copula approach

    Directory of Open Access Journals (Sweden)

    Silvia Angela Osmetti

    2013-05-01

    Full Text Available In this paper we discuss the problem on parametric and non parametric estimation of the distributions generated by the Marshall-Olkin copula. This copula comes from the Marshall-Olkin bivariate exponential distribution used in reliability analysis. We generalize this model by the copula and different marginal distributions to construct several bivariate survival functions. The cumulative distribution functions are not absolutely continuous and they unknown parameters are often not be obtained in explicit form. In order to estimate the parameters we propose an easy procedure based on the moments. This method consist in two steps: in the first step we estimate only the parameters of marginal distributions and in the second step we estimate only the copula parameter. This procedure can be used to estimate the parameters of complex survival functions in which it is difficult to find an explicit expression of the mixed moments. Moreover it is preferred to the maximum likelihood one for its simplex mathematic form; in particular for distributions whose maximum likelihood parameters estimators can not be obtained in explicit form.

  18. A bivariate optimal replacement policy with cumulative repair cost limit under cumulative damage model

    Indian Academy of Sciences (India)

    MIN-T SAI LAI; SHIH-CHIH CHEN

    2016-05-01

    In this paper, a bivariate replacement policy (n, T) for a cumulative shock damage process is presented that included the concept of cumulative repair cost limit. The arrival shocks can be divided into two kinds of shocks. Each type-I shock causes a random amount of damage and these damages are additive. When the total damage exceeds a failure level, the system goes into serious failure. Type-II shock causes the system into minor failure and such a failure can be corrected by minimal repair. When a minor failure occurs, the repaircost will be evaluated and minimal repair is executed if the accumulated repair cost is less than a predetermined limit L. The system is replaced at scheduled time T, at n-th minor failure, or at serious failure. The long-term expected cost per unit time is derived using the expected costs as the optimality criterion. The minimum-cost policy is derived, and existence and uniqueness of the optimal n* and T* are proved. This bivariate optimal replacement policy (n, T) is showed to be better than the optimal T* and the optimal n* policy.

  19. Hierarchical Bayesian modeling of random and residual variance-covariance matrices in bivariate mixed effects models.

    Science.gov (United States)

    Bello, Nora M; Steibel, Juan P; Tempelman, Robert J

    2010-06-01

    Bivariate mixed effects models are often used to jointly infer upon covariance matrices for both random effects (u) and residuals (e) between two different phenotypes in order to investigate the architecture of their relationship. However, these (co)variances themselves may additionally depend upon covariates as well as additional sets of exchangeable random effects that facilitate borrowing of strength across a large number of clusters. We propose a hierarchical Bayesian extension of the classical bivariate mixed effects model by embedding additional levels of mixed effects modeling of reparameterizations of u-level and e-level (co)variances between two traits. These parameters are based upon a recently popularized square-root-free Cholesky decomposition and are readily interpretable, each conveniently facilitating a generalized linear model characterization. Using Markov Chain Monte Carlo methods, we validate our model based on a simulation study and apply it to a joint analysis of milk yield and calving interval phenotypes in Michigan dairy cows. This analysis indicates that the e-level relationship between the two traits is highly heterogeneous across herds and depends upon systematic herd management factors.

  20. A comparison of statistical selection strategies for univariate and bivariate log-linear models.

    Science.gov (United States)

    Moses, Tim; Holland, Paul W

    2010-11-01

    In this study, eight statistical selection strategies were evaluated for selecting the parameterizations of log-linear models used to model the distributions of psychometric tests. The selection strategies included significance tests based on four chi-squared statistics (likelihood ratio, Pearson, Freeman-Tukey, and Cressie-Read) and four additional strategies (Akaike information criterion (AIC), Bayesian information criterion (BIC), consistent Akaike information criterion (CAIC), and a measure attributed to Goodman). The strategies were evaluated in simulations for different log-linear models of univariate and bivariate test-score distributions and two sample sizes. Results showed that all eight selection strategies were most accurate for the largest sample size considered. For univariate distributions, the AIC selection strategy was especially accurate for selecting the correct parameterization of a complex log-linear model and the likelihood ratio chi-squared selection strategy was the most accurate strategy for selecting the correct parameterization of a relatively simple log-linear model. For bivariate distributions, the likelihood ratio chi-squared, Freeman-Tukey chi-squared, BIC, and CAIC selection strategies had similarly high selection accuracies.

  1. Exploiting Bivariate Dependencies to Speedup Structure Learning in Bayesian Optimization Algorithm

    Institute of Scientific and Technical Information of China (English)

    Amin Nikanjam; Adel Rahmani

    2012-01-01

    Bayesian optimization algorithm (BOA) is one of the successful and widely used estimation of distribution algorithms (EDAs) which have been employed to solve different optimization problems.In EDAs,a model is learned from the selected population that encodes interactions among problem variables.New individuals are generated by sampling the model and incorporated into the population.Different probabilistic models have been used in EDAs to learn interactions.Bayesian network (BN) is a well-known graphical model which is used in BOA.Learning a proper model in EDAs and particularly in BOA is distinguished as a computationally expensive task.Different methods have been proposed in the literature to improve the complexity of model building in EDAs.This paper employs bivariate dependencies to learn accurate BNs in BOA efficiently.The proposed approach extracts the bivariate dependencies using an appropriate pairwise interaction-detection metric.Due to the static structure of the underlying problems,these dependencies are used in each generation of BOA to learn an accurate network.By using this approach,the computational cost of model building is reduced dramatically.Various optimization problems are selected to be solved by the algorithm.The experimental results show that the proposed approach successfully finds the optimum in problems with different types of interactions efficiently.Significant speedups are observed in the model building procedure as well.

  2. Issues concerning Landowner Management Plan Adoption Decisions: A Recursive Bivariate Probit Approach

    Directory of Open Access Journals (Sweden)

    Omkar Joshi

    2015-01-01

    Full Text Available Despite the likely benefits of having a written forest management plan, a small number of landowners in the United States have the one. A recursive bivariate probit model was used to identify the possible relationship between landowners’ decision to obtain a management plan and their interest in future timber harvesting. Our study results based on recursive bivariate model suggest that landowners having larger land ownerships, longer forest ownership tenure, and higher education were more likely to have a forest management plan and future timber harvesting interest. While the landowners having interest for wildlife management were also interested to have a written management plan, they did not prefer to harvest in future. Study results indicate that written management plan means more than a timber harvesting strategy to landowners in general. Many elderly landowners with a low level of income and less formal education and those having small or medium sized tracts of forestland are less likely to own a written management plan. Therefore, this group requires special attention in various government sponsored forest management related extension activities. Future research on understanding landowner perception behind written management plan is recommended.

  3. Leuciscus (Pisces, Cyprinidae karyotypes: Transect of Portuguese populations

    Directory of Open Access Journals (Sweden)

    Maria João Collares-Pereira

    1998-03-01

    Full Text Available The presently described Iberian chubs - Leuciscus carolitertii and L. pyrenaicus - sampled throughout their distribution ranges in Portugal were cytogenetically analyzed. Their chromosome numbers were consistently 2n = 50, except for two specimens of L. carolitertii, which exhibited a supernumerary chromosome in some of the metaphases. The karyotypes were found to be highly typical for other Leuciscus taxa, as well as for European leuciscine cyprinids: the chromosome sets are dominated by metacentric and submetacentric elements with a reduced number of acrocentric pairs (three to four; the largest pair of the complements belongs typically to this latter category. The chubs from northern drainages, assignable to L. carolitertii, have apparently a more stable karyotype structure (12M:30S:8A than the chubs from L. pyrenaicus, which have 12M:32S:6A, but may exhibit in the most southern river basins (Guadiana, Mira, Aljezur, Bordeira and Arade more variable karyotypes. Besides, these data support the very recent discovery of two genetically distinct Leuciscus taxa in this region of the Iberian Peninsula, suggesting the stochastic fixation of structural chromosome rearrangements in these small and isolated drainages, which may be affected by bottlenecks due to significant variations in hydrological regimes. The NORs were apparently located in one small submetacentric pair of chromosomes and the presence of a heteromorphic sex chromosome system of the ZW/ZZ type was also evidenced for the Iberian endemic chubs.A análise citogenética dos dois endemismos de Leuciscus atualmente descritos na Península Ibérica foi efetuada em amostras obtidas ao longo da sua área de distribuição. Apresentaram um valor diplóide de 2n = 50, com exceção de dois exemplares de L. carolitertii, os quais exibiam um cromossomo supranumerário em algumas metáfases. Caracterizaram-se por um padrão cariológico idêntico ao dos restantes táxons do mesmo g

  4. Cytogenetics of Aspidogaster limacoides (Trematoda, Aspidogastrea): karyotype, spermatocyte division, and genome size.

    Science.gov (United States)

    Bombarová, Marta; Špakulová, Marta; Kello, Martin; Nguyen, Petr; Bazsalovicsová, Eva; Králová-Hromadová, Ivica

    2015-04-01

    A detailed cytogenetic analysis of the aspidogastrean fluke Aspidogaster limacoides revealed a karyotype consisting of six medium-sized chromosome pairs. The first and the last pairs were two-armed while four remaining were one-armed; 2n = 12, n = 1 m + 1 m - sm + 4a. Fluorescence in situ hybridization with 18S ribosomal DNA (rDNA) probe detected a single cluster of ribosomal genes (NOR) located in pericentromeric regions of the long arms of the third chromosome pair in a site of secondary constriction apparent in meiotic prophase, especially in diplotene. The silver nitrate staining showed only a single active NOR site on one of homologous chromosomes in the majority of spermatogonia and spermatocyte divisions. A course of meiosis corresponded to standard schemes. The nucleolus was apparent in early meiotic spermatocytes and disintegrated by the end of pachytene. For the first time in Aspidogastrea, the genome size was determined. The flow cytometry showed 1.21 pg DNA per haploid nucleus in A. limacoides which is in accordance with relatively low genome sizes of other flukes and tapeworms (Neodermata). A comparison of cytogenetic data available to date in the fluke sister groups Aspidogastrea and Digenea suggests that the lower chromosome number of Aspidogastrea might represent an ancestral condition and their split might have been accompanied by an increase in chromosome number via either chromosome fissions or paleopolyploidy.

  5. Karyotype analysis of the Russian wheat aphid, Diuraphis noxia (Kurdjumov) (Hemiptera: Aphididae) reveals a large X chromosome with rRNA and histone gene families.

    Science.gov (United States)

    Novotná, Jana; Havelka, Jan; Starý, Petr; Koutecký, Petr; Vítková, Magda

    2011-03-01

    The Russsian wheat aphid (RWA), Diuraphis noxia (Kurdjumov), is a worldwide pest of cereals. Despite its economic importance, little is known about its genome. Here we investigated physical genomic features in RWA by karyotype analysis using differential staining with AgNO(3), CMA(3), and DAPI, by chromosomal localization of ribosomal DNA (rDNA), H3 and H4 histone genes, and the "arthropod" telomeric sequence (TTAGG)(n) using fluorescence in situ hybridization (FISH), and by measuring the RWA genome size using flow cytometry. The female karyotype, 2n = 10, is composed of four autosome pairs and a pair of X chromosomes, whereas the male karyotype, 2n = 9, has a single X. The X chromosome is the largest element in the karyotype. All three molecular markers used, i.e., 18S rRNA and both H3 and H4 probes are co-localized at one end of the X chromosome. The FISH probes revealed that the AgNO(3)-positive bridge between two prometaphase X chromosomes of females, which is believed to be responsible for the elimination of one X chromosome in aphid oocytes determined to undergo male development, contains clusters of both histone genes, in addition to an rDNA cluster. Interestingly, RWA lacks the (TTAGG)(n) telomeric sequence in its genome, in contrast to several previously investigated aphid species. Additionally, we compared female and male genome sizes. The female genome size is 2C = 0.86 pg, whereas the male genome size is 2C = 0.70 pg. The difference between the DNA content in the two genders suggests that the RWA X chromosome occupies about 35% of the female haploid genome (1C = 0.43 pg), which makes it one of the largest sex chromosomes in the animal kingdom.

  6. Karyotypes of two rare rodents, Hapalomys delacouri and Typhlomys cinereus (Mammalia, Rodentia, from Vietnam

    Directory of Open Access Journals (Sweden)

    Alexei Abramov

    2012-01-01

    Full Text Available Karyotypes of Hapalomys delacouri (Rodentia, Muridae and Typhlomys cinereus (Rodentia, Platacanthomyidae from Vietnam are described for the first time. The diploid karyotype of H. delacouri is 38 (NFa=48, consisting of six pairs of bi-armed and 12 pairs of acrocentric autosomes decreasing in size; plus a large metacentric X chromosome and Y chromosome, also metacentric, that is equal in size to the largest pair of acrocentric autosomes. The newly described karyotype differs significantly from that reported for H. delacouri from northern Thailand. The latter record very likely represents a different species of Hapalomys, possibly the taxon H. pasquieri described from north-central Laos. The diploid karyotype of Typhlomys cinereus is 38 (NF=48, consisting of five pairs of meta- to submetacentric and 14 pairs of acrocentric chromosomes varying in size from large to small; sex chromosomes were not defined.

  7. Complex karyotype newly defined: The strongest prognostic factor in advanced childhood myelodysplastic syndrome

    NARCIS (Netherlands)

    G. Göhring (Gudrun); K. Michalova (Kyra); H.B. Beverloo (Berna); D. Betts (David); J. Harbott (Jochen); O.A. Haas (Oskar); G. Kerndrup (Gitte); L. Sainati (Laura); E. Bergstraesser (Eva); H. Hasle (Henrik); J. Stary (Jan); M. Trebo (Monica); M.M. van den Heuvel-Eibrink (Marry); M. Zecca (Marco); E.R. van Wering (Elisabeth); A. Fischer (Alexandra); P. Noellke (Peter); B. Strahm (Brigitte); F. Locatelli (Franco); C.M. Niemeyer (Charlotte); B. Schlegelberger (Brigitte)

    2010-01-01

    textabstractTo identify cytogenetic risk factors predicting outcome in children with advanced myelodysplastic syndrome, overall survival of 192 children prospectively enrolled in European Working Group of Myelodysplastic Syndrome in Childhood studies was evaluated with regard to karyotypic complexit

  8. Karyotypes of two rare rodents, Hapalomys delacouri and Typhlomys cinereus (Mammalia, Rodentia), from Vietnam.

    Science.gov (United States)

    Abramov, Alexei V; Aniskin, Vladimir M; Rozhnov, Viatcheslav V

    2012-01-01

    Karyotypes of Hapalomys delacouri (Rodentia, Muridae) and Typhlomys cinereus (Rodentia, Platacanthomyidae) from Vietnam are described for the first time. The diploid karyotype of Hapalomys delacouri is 38 (NFa=48), consisting of six pairs of bi-armed and 12 pairs of acrocentric autosomes decreasing in size; plus a large metacentric X chromosome and Y chromosome, also metacentric, that is equal in size to the largest pair of acrocentric autosomes. The newly described karyotype differs significantly from that reported for Hapalomys delacouri from northern Thailand. The latter record very likely represents a different species of Hapalomys, possibly the taxon Hapalomys pasquieri described from north-central Laos.The diploid karyotype of Typhlomys cinereus is 38 (NF=48), consisting of five pairs of meta- to submetacentric and 14 pairs of acrocentric chromosomes varying in size from large to small; sex chromosomes were not defined.

  9. The ancestral karyotype of Carnivora: comparison with that of platyrrhine monkeys.

    Science.gov (United States)

    Dutrillaux, B; Couturier, J

    1983-01-01

    The karyotypes of six species of Carnivora (Mungos mungo, Paradoxurus hermaphroditus, Potos flavus, Mustela furo, Felis serval, and Halichoerus grypus), representative of five different families, were studied and compared. Correspondence between almost all chromosome segments was found, and a presumed ancestral karyotype of Carnivora is proposed. Analogies to human chromosomes are also given, and the results obtained are in excellent agreement with previously published gene mapping data on man and the domestic cat.

  10. Karyotyping and analysis of GNAS locus in intramuscular myxomas.

    Science.gov (United States)

    Panagopoulos, Ioannis; Gorunova, Ludmila; Lobmaier, Ingvild; Bjerkehagen, Bodil; Heim, Sverre

    2017-03-28

    Intramuscular myxoma is a benign soft tissue tumor about which very limited genetic information exists. We studied 68 intramuscular myxomas by means of chromosome banding analysis finding abnormal karyotypes in 21 of them. The most clearly nonrandom involvement was of chromosome 8 which was found gained in seven tumors (+8 was the sole change in five myxomas) and structurally rearranged in another two. Since mutation of the gene GNAS (20q13) has been implicated in the pathogenesis of both solitary and hereditary multiple myxomas, we assessed the transcription and mutation status of this gene in five tumors from which we had suitable RNA. All five intramuscular myxomas expressed biallelic transcripts. The mutated GNAS allele found in one tumor was also biallelically transcribed. In none of the five myxomas were maternally expressed transcripts detected. Collectively, the data suggest that intramuscular myxomas have acquired genetic abnormalities that often include chromosome 8 changes but may also involve alterations of GNAS. To what extent these aberrations are pathogenetically important, remains uncertain.

  11. Karyotype description of five species of Trichomycterus (Teleostei: Siluriformes: Trichomycteridae

    Directory of Open Access Journals (Sweden)

    Sato Luciana Ramos

    2004-01-01

    Full Text Available Trichomycteridae is a family of small catfish which are widely distributed throughout Southern Central America and South America. The present study showed that the cis-Andean species Trichomycterus florensis, Trichomycterus sp. aff. Trichomycterus itatiyae, Trichomycterus reinhardti, Trichomycterus davisi and Trichomycterus auroguttatus had 2n = 54 chromosomes (42 metacentric, 10 submetacentric and 2 subtelocentric, with T. reinhardti, T. auroguttatus and T. sp. aff. T. itatiyae exhibiting only one chromosome pair with silver-stained nucleolus organizer regions (NORs. The cytogenetic data suggest the existence of at least two groups of species in the cis-Andean representatives of the genus Trichomycterus. In the first group the first metacentric pair is considerably larger than the second metacentric pair and the NORs occur in the pericentromeric position of the short arm of a large submetacentric pair while in the second group the first and second metacentric pairs are about the same size and larger than the other metacentric pairs and the NORs are located in the pericentromeric position of the long arm of a large metacentric pair. The relative conservatism of the karyotype of the cis-Andean Trichomycterus species contrasts with the wide diversification observed in the trans-Andean species, reinforcing the hypothesis that the genus is not monophyletic.

  12. Karyotypes of three species of marine catfishes from Brazil

    Directory of Open Access Journals (Sweden)

    Vicente Gomes

    1994-12-01

    Full Text Available The chromosomes of three species of fishes belonging to the family Ariidae -Netuma barba, Genidens genidens and Amis parkeri - were studied after conventional Giemsa staining. All three species have a diploid chromosome number of 2n = 56. The karyotype comprises 18 metacentric (m, 18 submetacentric (sm, 18 subtelocentric (st and 2 telocentric (t pairs for N. barba; 12 m, 20 sm, 20 st and 41 pairs for G. genidens; 16 m, 16 sm, 22 st and 21 pairs for A. parkeri. The results obtained from these three species are compared with each other and with those found in literature.Os cromossomos de 3 espécies de peixes da família Ariidae - Netuma barba, Genidens genidens e Arius parkeri - foram estudados após coloração convencional com Giemsa. As três espécies apresentaram número modal diplóide de 2n = 56. O cariótipo de N. barba compreende 18 pares de cromossomos metacentricos (m, 18 submetacêntricos (sm, 18 subtelocêntricos (st e 2 telocêntricos (t; o de G. genidens compreende 12 pares m, 20 sm, 20 st e 41; o de A.parkeri compreende 16 m, 16 sm, 22 st e 2 t. Os resultados obtidos são comparados entre si e com os de outros ariídeos encontrados na literatura.

  13. Complex karyotype newly defined: the strongest prognostic factor in advanced childhood myelodysplastic syndrome.

    Science.gov (United States)

    Göhring, Gudrun; Michalova, Kyra; Beverloo, H Berna; Betts, David; Harbott, Jochen; Haas, Oskar A; Kerndrup, Gitte; Sainati, Laura; Bergstraesser, Eva; Hasle, Henrik; Stary, Jan; Trebo, Monika; van den Heuvel-Eibrink, Marry M; Zecca, Marco; van Wering, Elisabeth R; Fischer, Alexandra; Noellke, Peter; Strahm, Brigitte; Locatelli, Franco; Niemeyer, Charlotte M; Schlegelberger, Brigitte

    2010-11-11

    To identify cytogenetic risk factors predicting outcome in children with advanced myelodysplastic syndrome, overall survival of 192 children prospectively enrolled in European Working Group of Myelodysplastic Syndrome in Childhood studies was evaluated with regard to karyotypic complexity. Structurally complex constitutes a new definition of complex karyotype characterized by more than or equal to 3 chromosomal aberrations, including at least one structural aberration. Five-year overall survival in patients with more than or equal to 3 clonal aberrations, which were not structurally complex, did not differ from that observed in patients with normal karyotype. Cox regression analysis revealed the presence of a monosomal and structurally complex karyotype to be strongly associated with poor prognosis (hazard ratio = 4.6, P < .01). Notably, a structurally complex karyotype without a monosomy was associated with a very short 2-year overall survival probability of only 14% (hazard ratio = 14.5; P < .01). The presence of a structurally complex karyotype was the strongest independent prognostic marker predicting poor outcome in children with advanced myelodysplastic syndrome.

  14. A New Method of Constructing Bivariate Vector Valued Rational Interpolation Function

    Institute of Scientific and Technical Information of China (English)

    Lin ZHENGI; Gong Qin ZHU

    2011-01-01

    At present,the methods of constructing vector valued rational interpolation function in rectangular mesh are mainly presented by means of the branched continued fractions.In order to get vector valued rational interpolation function with lower degree and better approximation effect,the paper divides rectangular mesh into pieces by choosing nonnegative integer parameters d1(0≤di ≤ m) and d2 (0≤d2 ≤n),builds bivariate polynomial vector interpolation for each piece,then combines with them properly.As compared with previous methods,the new method given by this paper is easy to compute and the degree for the interpolants is lower.

  15. A goodness-of-fit test for bivariate extreme-value copulas

    CERN Document Server

    Genest, Christian; Nešlehová, Johanna; Yan, Jun; 10.3150/10-BEJ279

    2011-01-01

    It is often reasonable to assume that the dependence structure of a bivariate continuous distribution belongs to the class of extreme-value copulas. The latter are characterized by their Pickands dependence function. In this paper, a procedure is proposed for testing whether this function belongs to a given parametric family. The test is based on a Cram\\'{e}r--von Mises statistic measuring the distance between an estimate of the parametric Pickands dependence function and either one of two nonparametric estimators thereof studied by Genest and Segers [Ann. Statist. 37 (2009) 2990--3022]. As the limiting distribution of the test statistic depends on unknown parameters, it must be estimated via a parametric bootstrap procedure, the validity of which is established. Monte Carlo simulations are used to assess the power of the test and an extension to dependence structures that are left-tail decreasing in both variables is considered.

  16. Noise Removal From Microarray Images Using Maximum a Posteriori Based Bivariate Estimator

    Directory of Open Access Journals (Sweden)

    A.Sharmila Agnal

    2013-01-01

    Full Text Available Microarray Image contains information about thousands of genes in an organism and these images are affected by several types of noises. They affect the circular edges of spots and thus degrade the image quality. Hence noise removal is the first step of cDNA microarray image analysis for obtaining gene expression level and identifying the infected cells. The Dual Tree Complex Wavelet Transform (DT-CWT is preferred for denoising microarray images due to its properties like improved directional selectivity and near shift-invariance. In this paper, bivariate estimators namely Linear Minimum Mean Squared Error (LMMSE and Maximum A Posteriori (MAP derived by applying DT-CWT are used for denoising microarray images. Experimental results show that MAP based denoising method outperforms existing denoising techniques for microarray images.

  17. Bayesian bivariate generalized Lindley model for survival data with a cure fraction.

    Science.gov (United States)

    Martinez, Edson Z; Achcar, Jorge A

    2014-11-01

    The cure fraction models have been widely used to analyze survival data in which a proportion of the individuals is not susceptible to the event of interest. In this article, we introduce a bivariate model for survival data with a cure fraction based on the three-parameter generalized Lindley distribution. The joint distribution of the survival times is obtained by using copula functions. We consider three types of copula function models, the Farlie-Gumbel-Morgenstern (FGM), Clayton and Gumbel-Barnett copulas. The model is implemented under a Bayesian framework, where the parameter estimation is based on Markov Chain Monte Carlo (MCMC) techniques. To illustrate the utility of the model, we consider an application to a real data set related to an invasive cervical cancer study.

  18. Mortality as a bivariate function of age and size in indeterminate growers

    DEFF Research Database (Denmark)

    Colchero, Fernando; Schaible, Ralf

    2014-01-01

    developed a model that treats age- and size-specific mortality as a bivariate process. This method facilitates the exploration of the underlying (unobserved) contributions of age and size to mortality. We show that, in theory, a population can show declining mortality with age and size while the underlying......Mortality in organisms that grow indefinitely, known as indeterminate growers, is thought to be driven primarily by size. However, a number of ageing mechanisms also act as functions of age. Thus, to explain mortality in these species, both size and age need to be explicitly modelled. Here we...... contribution of age, as a proxy for chronological deterioration, is of typical senescence; while a seemingly senescent population can have underlying age-related negative senescence, which is, however, overcome by negative underlying size effects. We show how inference about these unobserved processes can...

  19. On the Bivariate Nakagami-Lognormal Distribution and Its Correlation Properties

    Directory of Open Access Journals (Sweden)

    Juan Reig

    2014-01-01

    Full Text Available The bivariate Nakagami-lognormal distribution used to model the composite fast fading and shadowing has been examined exhaustively. In particular, we have derived the joint probability density function, the cross-moments, and the correlation coefficient in power terms. Also, two procedures to generate two correlated Nakagami-lognormal random variables are described. These procedures can be used to evaluate the robustness of the sample correlation coefficient distribution in both macro- and microdiversity scenarios. It is shown that the bias and the standard deviation of this sample correlation coefficient are substantially high for large shadowing standard deviations found in wireless communication measurements, even if the number of observations is considerable.

  20. Bi-variable damage model for fatigue life prediction of metal components

    Institute of Scientific and Technical Information of China (English)

    Miao Zhang; Qing-Chun Meng; Xing Zhang; Wei-Ping Hu

    2011-01-01

    Based on the theory of continuum damage mechanics, a bi-variable damage mechanics model is developed, which, according to thermodynamics, is accessible to derivation of damage driving force, damage evolution equation and damage evolution criteria. Furthermore, damage evolution equations of time rate are established by the generalized Drucker's postulate. The damage evolution equation of cycle rate is obtained by integrating the time damage evolution equations, and the fatigue life prediction method for smooth specimens under repeated loading with constant strain amplitude is constructed. Likewise, for notched specimens under the repeated loading with constant strain amplitude, the fatigue life prediction method is obtained on the ground of the theory of conservative integral in damage mechanics. Thus, the material parameters in the damage evolution equation can be obtained by reference to the fatigue test results of standard specimens with stress concentration factor equal to 1, 2 and 3.

  1. A Bivariate Chebyshev Spectral Collocation Quasilinearization Method for Nonlinear Evolution Parabolic Equations

    Directory of Open Access Journals (Sweden)

    S. S. Motsa

    2014-01-01

    Full Text Available This paper presents a new method for solving higher order nonlinear evolution partial differential equations (NPDEs. The method combines quasilinearisation, the Chebyshev spectral collocation method, and bivariate Lagrange interpolation. In this paper, we use the method to solve several nonlinear evolution equations, such as the modified KdV-Burgers equation, highly nonlinear modified KdV equation, Fisher's equation, Burgers-Fisher equation, Burgers-Huxley equation, and the Fitzhugh-Nagumo equation. The results are compared with known exact analytical solutions from literature to confirm accuracy, convergence, and effectiveness of the method. There is congruence between the numerical results and the exact solutions to a high order of accuracy. Tables were generated to present the order of accuracy of the method; convergence graphs to verify convergence of the method and error graphs are presented to show the excellent agreement between the results from this study and the known results from literature.

  2. Convex preserving scattered data interpolation using bivariate C1 cubic splines

    Science.gov (United States)

    Lai, Ming-Jun

    2000-07-01

    We use bivariate C1 cubic splines to deal with convexity preserving scattered data interpolation problem. Using a necessary and sufficient condition on Bernstein-Bézier polynomials, we set the convexity-preserving interpolation problem into a quadratically constraint quadratic programming problem. We show the existence of convexity preserving interpolatory surfaces under certain conditions on the data. That is, under certain conditions on the data, there always exists a convexity preservation C1 cubic spline interpolation if the triangulation is refined sufficiently many times. We then replace the quadratical constrains by three linear constrains and formulate the problem into linearly constraint quadratic programming problems in order to be able to solve it easily. Certainly, the existence of convexity preserving interpolatory surfaces is equivalent to the feasibility of the linear constrains. We present a numerical experiment to test which of these three linear constraints performs the best.

  3. Bayesian and Non Bayesian Parameter Estimation for Bivariate Pareto Distribution Based on Censored Samples

    Directory of Open Access Journals (Sweden)

    Rania, M. Shalaby

    2015-10-01

    Full Text Available This paper deals with Bayesian and non-Bayesian methods for estimating parameters of the bivariate Pareto (BP distribution based on censored samples are considered with shape parameters λ and known scale parameter β. The maximum likelihood estimators MLE of the unknown parameters are derived. The Bayes estimators are obtained with respect to the squared error loss function and the prior distributions allow for prior dependence among the components of the parameter vector. .Posterior distributions for parameters of interest are derived and their properties are described. If the scale parameter is known, the Bayes estimators of the unknown parameters can be obtained in explicit forms under the assumptions of independent priors. An extensive computer simulation is used to compare the performance of the proposed estimators using MathCAD (14.

  4. A bivariate Chebyshev spectral collocation quasilinearization method for nonlinear evolution parabolic equations.

    Science.gov (United States)

    Motsa, S S; Magagula, V M; Sibanda, P

    2014-01-01

    This paper presents a new method for solving higher order nonlinear evolution partial differential equations (NPDEs). The method combines quasilinearisation, the Chebyshev spectral collocation method, and bivariate Lagrange interpolation. In this paper, we use the method to solve several nonlinear evolution equations, such as the modified KdV-Burgers equation, highly nonlinear modified KdV equation, Fisher's equation, Burgers-Fisher equation, Burgers-Huxley equation, and the Fitzhugh-Nagumo equation. The results are compared with known exact analytical solutions from literature to confirm accuracy, convergence, and effectiveness of the method. There is congruence between the numerical results and the exact solutions to a high order of accuracy. Tables were generated to present the order of accuracy of the method; convergence graphs to verify convergence of the method and error graphs are presented to show the excellent agreement between the results from this study and the known results from literature.

  5. An integrated user-friendly ArcMAP tool for bivariate statistical modelling in geoscience applications

    Science.gov (United States)

    Jebur, M. N.; Pradhan, B.; Shafri, H. Z. M.; Yusoff, Z. M.; Tehrany, M. S.

    2015-03-01

    Modelling and classification difficulties are fundamental issues in natural hazard assessment. A geographic information system (GIS) is a domain that requires users to use various tools to perform different types of spatial modelling. Bivariate statistical analysis (BSA) assists in hazard modelling. To perform this analysis, several calculations are required and the user has to transfer data from one format to another. Most researchers perform these calculations manually by using Microsoft Excel or other programs. This process is time-consuming and carries a degree of uncertainty. The lack of proper tools to implement BSA in a GIS environment prompted this study. In this paper, a user-friendly tool, bivariate statistical modeler (BSM), for BSA technique is proposed. Three popular BSA techniques, such as frequency ratio, weight-of-evidence (WoE), and evidential belief function (EBF) models, are applied in the newly proposed ArcMAP tool. This tool is programmed in Python and created by a simple graphical user interface (GUI), which facilitates the improvement of model performance. The proposed tool implements BSA automatically, thus allowing numerous variables to be examined. To validate the capability and accuracy of this program, a pilot test area in Malaysia is selected and all three models are tested by using the proposed program. Area under curve (AUC) is used to measure the success rate and prediction rate. Results demonstrate that the proposed program executes BSA with reasonable accuracy. The proposed BSA tool can be used in numerous applications, such as natural hazard, mineral potential, hydrological, and other engineering and environmental applications.

  6. Pleiotropic locus for emotion recognition and amygdala volume identified using univariate and bivariate linkage

    Science.gov (United States)

    Knowles, Emma E. M.; McKay, D. Reese; Kent, Jack W.; Sprooten, Emma; Carless, Melanie A.; Curran, Joanne E.; de Almeida, Marcio A. A.; Dyer, Thomas D.; Göring, Harald H. H.; Olvera, Rene; Duggirala, Ravi; Fox, Peter; Almasy, Laura; Blangero, John; Glahn, David. C.

    2014-01-01

    The role of the amygdala in emotion recognition is well established and separately each trait has been shown to be highly heritable, but the potential role of common genetic influences on both traits has not been explored. Here we present an investigation of the pleiotropic influences of amygdala and emotion recognition in a sample of randomly selected, extended pedigrees (N = 858). Using a combination of univariate and bivariate linkage we found a pleiotropic region for amygdala and emotion recognition on 4q26 (LOD = 4.34). Association analysis conducted in the region underlying the bivariate linkage peak revealed a variant meeting the corrected significance level (pBonferroni = 5.01×10−05) within an intron of PDE5A (rs2622497, Χ2 =16.67, p = 4.4×10−05) as being jointly influential on both traits. PDE5A has been implicated previously in recognition-memory deficits and is expressed in subcortical structures that are thought to underlie memory ability including the amygdala. The present paper extends our understanding of the shared etiology between amygdala and emotion recognition by showing that the overlap between the two traits is due, at least in part, to common genetic influences. Moreover, the present paper identifies a pleiotropic locus for the two traits and an associated variant, which localizes the genetic signal even more precisely. These results, when taken in the context of previous research, highlight the potential utility of PDE5-inhibitors for ameliorating emotion-recognition deficits in populations including, but not exclusively, those individuals suffering from mental or neurodegenerative illness. PMID:25322361

  7. An integrated user-friendly ArcMAP tool for bivariate statistical modeling in geoscience applications

    Directory of Open Access Journals (Sweden)

    M. N. Jebur

    2014-10-01

    Full Text Available Modeling and classification difficulties are fundamental issues in natural hazard assessment. A geographic information system (GIS is a domain that requires users to use various tools to perform different types of spatial modeling. Bivariate statistical analysis (BSA assists in hazard modeling. To perform this analysis, several calculations are required and the user has to transfer data from one format to another. Most researchers perform these calculations manually by using Microsoft Excel or other programs. This process is time consuming and carries a degree of uncertainty. The lack of proper tools to implement BSA in a GIS environment prompted this study. In this paper, a user-friendly tool, BSM (bivariate statistical modeler, for BSA technique is proposed. Three popular BSA techniques such as frequency ratio, weights-of-evidence, and evidential belief function models are applied in the newly proposed ArcMAP tool. This tool is programmed in Python and is created by a simple graphical user interface, which facilitates the improvement of model performance. The proposed tool implements BSA automatically, thus allowing numerous variables to be examined. To validate the capability and accuracy of this program, a pilot test area in Malaysia is selected and all three models are tested by using the proposed program. Area under curve is used to measure the success rate and prediction rate. Results demonstrate that the proposed program executes BSA with reasonable accuracy. The proposed BSA tool can be used in numerous applications, such as natural hazard, mineral potential, hydrological, and other engineering and environmental applications.

  8. Bivariate cumulative probit model for the comparison of neuronal encoding hypotheses.

    Science.gov (United States)

    Hillmann, Julia; Kneib, Thomas; Koepcke, Lena; Juárez Paz, León M; Kretzberg, Jutta

    2014-01-01

    Understanding the way stimulus properties are encoded in the nerve cell responses of sensory organs is one of the fundamental scientific questions in neurosciences. Different neuronal coding hypotheses can be compared by use of an inverse procedure called stimulus reconstruction. Here, based on different attributes of experimentally recorded neuronal responses, the values of certain stimulus properties are estimated by statistical classification methods. Comparison of stimulus reconstruction results then allows to draw conclusions about relative importance of covariate features. Since many stimulus properties have a natural order and can therefore be considered as ordinal, we introduce a bivariate ordinal probit model to obtain classifications for the combination of light intensity and velocity of a visual dot pattern based on different covariates extracted from recorded spike trains. For parameter estimation, we develop a Bayesian Gibbs sampler and incorporate penalized splines to model nonlinear effects. We compare the classification performance of different individual cell covariates and simple features of groups of neurons and find that the combination of at least two covariates increases the classification performance significantly. Furthermore, we obtain a non-linear effect for the first spike latency. The model is compared to a naïve Bayesian stimulus estimation method where it yields comparable misclassification rates for the given dataset. Hence, the bivariate ordinal probit model is shown to be a helpful tool for stimulus reconstruction particularly thanks to its flexibility with respect to the number of covariates as well as their scale and effect type. © 2013 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  9. Hematopoietic Cell Transplantation Outcomes in Monosomal Karyotype Myeloid Malignancies.

    Science.gov (United States)

    Pasquini, Marcelo C; Zhang, Mei-Jie; Medeiros, Bruno C; Armand, Philippe; Hu, Zhen-Huan; Nishihori, Taiga; Aljurf, Mahmoud D; Akpek, Görgün; Cahn, Jean-Yves; Cairo, Mitchell S; Cerny, Jan; Copelan, Edward A; Deol, Abhinav; Freytes, César O; Gale, Robert Peter; Ganguly, Siddhartha; George, Biju; Gupta, Vikas; Hale, Gregory A; Kamble, Rammurti T; Klumpp, Thomas R; Lazarus, Hillard M; Luger, Selina M; Liesveld, Jane L; Litzow, Mark R; Marks, David I; Martino, Rodrigo; Norkin, Maxim; Olsson, Richard F; Oran, Betul; Pawarode, Attaphol; Pulsipher, Michael A; Ramanathan, Muthalagu; Reshef, Ran; Saad, Ayman A; Saber, Wael; Savani, Bipin N; Schouten, Harry C; Ringdén, Olle; Tallman, Martin S; Uy, Geoffrey L; Wood, William A; Wirk, Baldeep; Pérez, Waleska S; Batiwalla, Minoo; Weisdorf, Daniel J

    2016-02-01

    The presence of monosomal karyotype (MK+) in acute myeloid leukemia (AML) is associated with dismal outcomes. We evaluated the impact of MK+ in AML (MK+AML, n = 240) and in myelodysplastic syndrome (MDS) (MK+MDS, n = 221) on hematopoietic cell transplantation outcomes compared with other cytogenetically defined groups (AML, n = 3360; MDS, n = 1373) as reported to the Center for International Blood and Marrow Transplant Research from 1998 to 2011. MK+ AML was associated with higher disease relapse (hazard ratio, 1.98; P < .01), similar transplantation-related mortality (TRM) (hazard ratio, 1.01; P = .90), and worse survival (hazard ratio, 1.67; P < .01) compared with those outcomes for other cytogenetically defined AML. Among patients with MDS, MK+ MDS was associated with higher disease relapse (hazard ratio, 2.39; P < .01), higher TRM (hazard ratio, 1.80; P < .01), and worse survival (HR, 2.02; P < .01). Subset analyses comparing chromosome 7 abnormalities (del7/7q) with or without MK+ demonstrated higher mortality for MK+ disease in for both AML (hazard ratio, 1.72; P < .01) and MDS (hazard ratio, 1.79; P < .01). The strong negative impact of MK+ in myeloid malignancies was observed in all age groups and using either myeloablative or reduced-intensity conditioning regimens. Alternative approaches to mitigate disease relapse in this population are needed. Copyright © 2016 American Society for Blood and Marrow Transplantation. Published by Elsevier Inc. All rights reserved.

  10. Genome size, karyotype polymorphism and chromosomal evolution in Trypanosoma cruzi.

    Directory of Open Access Journals (Sweden)

    Renata T Souza

    Full Text Available BACKGROUND: The Trypanosoma cruzi genome was sequenced from a hybrid strain (CL Brener. However, high allelic variation and the repetitive nature of the genome have prevented the complete linear sequence of chromosomes being determined. Determining the full complement of chromosomes and establishing syntenic groups will be important in defining the structure of T. cruzi chromosomes. A large amount of information is now available for T. cruzi and Trypanosoma brucei, providing the opportunity to compare and describe the overall patterns of chromosomal evolution in these parasites. METHODOLOGY/PRINCIPAL FINDINGS: The genome sizes, repetitive DNA contents, and the numbers and sizes of chromosomes of nine strains of T. cruzi from four lineages (TcI, TcII, TcV and TcVI were determined. The genome of the TcI group was statistically smaller than other lineages, with the exception of the TcI isolate Tc1161 (José-IMT. Satellite DNA content was correlated with genome size for all isolates, but this was not accompanied by simultaneous amplification of retrotransposons. Regardless of chromosomal polymorphism, large syntenic groups are conserved among T. cruzi lineages. Duplicated chromosome-sized regions were identified and could be retained as paralogous loci, increasing the dosage of several genes. By comparing T. cruzi and T. brucei chromosomes, homologous chromosomal regions in T. brucei were identified. Chromosomes Tb9 and Tb11 of T. brucei share regions of syntenic homology with three and six T. cruzi chromosomal bands, respectively. CONCLUSIONS: Despite genome size variation and karyotype polymorphism, T. cruzi lineages exhibit conservation of chromosome structure. Several syntenic groups are conserved among all isolates analyzed in this study. The syntenic regions are larger than expected if rearrangements occur randomly, suggesting that they are conserved owing to positive selection. Mapping of the syntenic regions on T. cruzi chromosomal bands

  11. Clinical expression of Menkes disease in females with normal karyotype

    Directory of Open Access Journals (Sweden)

    Møller Lisbeth

    2012-01-01

    Full Text Available Abstract Background Menkes Disease (MD is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males. Female carriers are mosaics of wild-type and mutant cells due to the random X inactivation, and they are rarely affected. In the largest cohort of MD patients reported so far which consists of 517 families we identified 9 neurologically affected carriers with normal karyotypes. Methods We investigated at-risk females for mutations in the ATP7A gene by sequencing or by multiplex ligation-dependent probe amplification (MLPA. We analyzed the X-inactivation pattern in affected female carriers, unaffected female carriers and non-carrier females as controls, using the human androgen-receptor gene methylation assay (HUMAR. Results The clinical symptoms of affected females are generally milder than those of affected boys with the same mutations. While a skewed inactivation of the X-chromosome which harbours the mutation was observed in 94% of 49 investigated unaffected carriers, a more varied pattern was observed in the affected carriers. Of 9 investigated affected females, preferential silencing of the normal X-chromosome was observed in 4, preferential X-inactivation of the mutant X chromosome in 2, an even X-inactivation pattern in 1, and an inconclusive pattern in 2. The X-inactivation pattern correlates with the degree of mental retardation in the affected females. Eighty-one percent of 32 investigated females in the control group had moderately skewed or an even X-inactivation pattern. Conclusion The X- inactivation pattern alone cannot be used to predict the phenotypic outcome in female carriers, as even those with skewed X-inactivation of the X-chromosome harbouring the mutation might have neurological symptoms.

  12. Molecular phylogeny and karyotype differentiation in Paratelmatobius and Scythrophrys (Anura, Leptodactylidae).

    Science.gov (United States)

    Lourenço, L B; Bacci-Júnior, M; Martins, V G; Recco-Pimentel, S M; Haddad, C F B

    2008-03-01

    Paratelmatobius and Scythrophrys are leptodactylid frogs endemic to the Brazilian Atlantic forest and their close phylogenetic relationship was recently inferred in an analysis that included Paratelmatobius sp. and S. sawayae. To investigate the interspecific relationships among Paratelmatobius and Scythrophrys species, we analyzed a mitochondrial region (approximately 2.4 kb) that included the ribosomal genes 12S and 16S and the tRNAval in representatives of all known localities of these genera and in 54 other species. Maximum parsimony inferences were done using PAUP* and support for the clades was evaluated by bootstrapping. A cytogenetic analysis using Giemsa staining, C-banding and silver staining was also done for those populations of Paratelmatobius not included in previous cytogenetic studies of this genus in order to assess their karyotype differentiation. Our results suggested Paratelmatobius and Scythrophrys formed a clade strongly supported by bootstrapping, which corroborated their very close phylogenetic relationship. Among the Paratelmatobius species, two clades were identified and corroborated the groups P. mantiqueira and P. cardosoi previously proposed based on morphological characters. The karyotypes of Paratelmatobius sp. 2 and Paratelmatobius sp. 3 described here had diploid chromosome number 2n = 24 and showed many similarities with karyotypes of other Paratelmatobius representatives. The cytogenetic data and the phylogenetic analysis allowed the proposal/corroboration of several hypotheses for the karyotype differentiation within Paratelmatobius and Scythrophrys. Namely the telocentric pair No. 4 represented a synapomorphy of P. cardosoi and Paratelmatobius sp. 2, while chromosome pair No. 5 with interstitial C-bands could be interpreted as a synapomorphy of the P. cardosoi group. The NOR-bearing chromosome No. 10 in the karyotype of P. poecilogaster was considered homeologous to chromosome No. 10 in the karyotype of Scythrophrys sp

  13. Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

    Directory of Open Access Journals (Sweden)

    Kooper Angelique JA

    2012-01-01

    Full Text Available Abstract As a routine, karyotyping of invasive prenatal samples is performed as an adjunct to referrals for DNA mutation detection and metabolic testing. We performed a retrospective study on 500 samples to assess the diagnostic value of this procedure. These samples included 454 (90.8% chorionic villus (CV and 46 (9.2% amniocenteses specimens. For CV samples karyotyping was based on analyses of both short-term culture (STC and long-term culture (LTC cells. Overall, 19 (3.8% abnormal karyotypes were denoted: four with a common aneuploidy (trisomy 21, 18 and 13, two with a sex chromosomal aneuploidy (Klinefelter syndrome, one with a sex chromosome mosaicism and twelve with various autosome mosaicisms. In four cases a second invasive test was performed because of an abnormal finding in the STC. Taken together, we conclude that STC and LTC karyotyping has resulted in a diagnostic yield of 19 (3.8% abnormal cases, including 12 cases (2.4% with an uncertain significance. From a diagnostic point of view, it is desirable to limit uncertain test results as secondary test findings. Therefore, we recommend a more targeted assay, such as e.g. QF-PCR, as a replacement of the STC and to provide parents the autonomy to choose between karyotyping and QF-PCR.

  14. Outcome of experimental rat vaginitis by Candida albicans isolates with different karyotypes.

    Science.gov (United States)

    Tavanti, Arianna; Campa, Daniele; Arancia, Silvia; Hensgens, Lambert A M; de Bernardis, Flavia; Senesi, Sonia

    2010-01-01

    Candida albicans isolates with different genomic background, designed as b and c karyotypes, have been previously shown to differentially modulate their response to macrophage candidacidal activity. While b-type isolates were susceptible to intracellular killing, strains with c karyotype survived upon internalization and were able to replicate inside macrophages. Furthermore, it was also shown that c type strains escape microglial cell mediated growth inhibition, suggesting that these strains form a more virulent cluster. In this report, the pathogenicity exerted by C. albicans isolates with b and c karyotypes was analyzed in vivo using a model of experimental rat vaginitis. Although both types induced infection, c-type-infected animals suffered from more persistent vaginitis, confirming the higher virulence potential the c karyotype exerted in vivo. The analysis of fungal cells recovered from vaginal fluids of infected animals indicated that c-type was more prone to undergo morphogenesis and to express SAP2 than b-type; these different traits may account for the differences observed in the outcome of experimental rodent vaginitis induced by the two C. albicans karyotypes. Copyright 2010 Elsevier Ltd. All rights reserved.

  15. A new karyotype of Wiedomys pyrrhorhinus (Rodentia: Sigmodontinae from Chapada Diamantina, northeastern Brazil

    Directory of Open Access Journals (Sweden)

    Ana L. G Souza

    2011-02-01

    Full Text Available A new karyotype of Wiedomys pyrrhorhinus (Wied, 1821 is described, including G- and C-banding and Ag-NOR sites from specimens collected in the municipality of Morro do Chapéu, situated in the northern region of the Chapada Diamantina, state of Bahia. Karyological studies of W. pyrrhorhinus have shown a constant diploid number (2n of 62 with two different numbers of autosomal arms (FNa: 86 and 90, respectively. The new karyotype revealed 2n = 62 and FNa = 104, being the higher autosomal number found so far for this genus. The X chromosome is a large acrocentric and the Y chromosome is a small acrocentric. The analysis of the karyotype morphology suggests that this new karyotype is more closely related to the previous karyotype with 2n = 62 and FNa = 90, described from Caetité, Bahia State. Further studies, comparing different populations of W. pyrrhorhinus, including molecular approaches, may help to better understand the geographical limits of each population and their phylogenetic relationships in the Caatinga biome

  16. Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory

    Directory of Open Access Journals (Sweden)

    Anguiano Arturo

    2012-01-01

    Full Text Available Abstract Spectral karyotyping is a diagnostic tool that allows visualization of chromosomes in different colors using the FISH technology and a spectral imaging system. To assess the value of spectral karyotyping analysis for identifying constitutional supernumerary marker chromosomes or derivative chromosomes at a national reference laboratory, we reviewed the results of 179 consecutive clinical samples (31 prenatal and 148 postnatal submitted for spectral karyotyping. Over 90% of the cases were requested to identify either small supernumerary marker chromosomes (sSMCs or chromosomal exchange material detected by G-banded chromosome analysis. We also reviewed clinical indications of those cases with marker chromosomes in which chromosomal origin was identified by spectral karyotyping. Our results showed that spectral karyotyping identified the chromosomal origin of marker chromosomes or the source of derivative chromosomal material in 158 (88% of the 179 clinical cases; the identification rate was slightly higher for postnatal (89% compared to prenatal (84% cases. Cases in which the origin could not be identified had either a small marker chromosome present at a very low level of mosaicism (

  17. Analysis of meteorological droughts for the Saskatchewan River Basin using univariate and bivariate approaches

    Science.gov (United States)

    Masud, M. B.; Khaliq, M. N.; Wheater, H. S.

    2015-03-01

    This study is focused on the Saskatchewan River Basin (SRB) that spans southern parts of Alberta, Saskatchewan and Manitoba, the three Prairie Provinces of Canada, where most of the country's agricultural activities are concentrated. The SRB is confronted with immense water-related challenges and is now one of the ten GEWEX (Global Energy and Water Exchanges) Regional Hydroclimate Projects in the world. In the past, various multi-year droughts have been observed in this part of Canada that impacted agriculture, energy and socio-economic sectors. Therefore, proper understanding of the spatial and temporal characteristics of historical droughts is important for many water resources planning and management related activities across the basin. In the study, observed gridded data of daily precipitation and temperature and conventional univariate and copula-based bivariate frequency analyses are used to characterize drought events in terms of drought severity and duration on the basis of two drought indices, the Standardized Precipitation Index (SPI) and the Standardized Precipitation Evapotranspiration Index (SPEI). Within the framework of univariate and bivariate analyses, drought risk indicators are developed and mapped across the SRB to delineate the most vulnerable parts of the basin. Based on the results obtained, southern parts of the SRB (i.e., western part of the South Saskatchewan River, Seven Persons Creek and Bigstick Lake watersheds) are associated with a higher drought risk, while moderate risk is noted for the North Saskatchewan River (except its eastern parts), Red Deer River, Oldman River, Bow River, Sounding Creek, Carrot River and Battle River watersheds. Lower drought risk is found for the areas surrounding the Saskatchewan-Manitoba border (particularly, the Saskatchewan River watershed). It is also found that the areas characterized with higher drought severity are also associated with higher drought duration. A comparison of SPI- and SPEI

  18. Synthetic control charts with two-stage sampling for monitoring bivariate processes

    Directory of Open Access Journals (Sweden)

    Antonio F. B. Costa

    2007-04-01

    Full Text Available In this article, we consider the synthetic control chart with two-stage sampling (SyTS chart to control bivariate processes. During the first stage, one item of the sample is inspected and two correlated quality characteristics (x;y are measured. If the Hotelling statistic T1² for these individual observations of (x;y is lower than a specified value UCL1 the sampling is interrupted. Otherwise, the sampling goes on to the second stage, where the remaining items are inspected and the Hotelling statistic T2² for the sample means of (x;y is computed. When the statistic T2² is larger than a specified value UCL2, the sample is classified as nonconforming. According to the synthetic control chart procedure, the signal is based on the number of conforming samples between two neighbor nonconforming samples. The proposed chart detects process disturbances faster than the bivariate charts with variable sample size and it is from the practical viewpoint more convenient to administer.Este artigo apresenta um gráfico de controle com regra especial de decisão e amostragens em dois estágios para o monitoramento de processos bivariados. No primeiro estágio, um item da amostra é inspecionado e duas características de qualidade correlacionadas (x;y são medidas. Se a estatística de Hotelling T1² para as observações individuais de (x;y for menor que um valor especificado UCL1 a amostragem é interrompida. Caso contrário, a amostragem segue para o segundo estágio, onde os demais itens da amostra são inspecionados e a estatística de Hotelling T2² para as médias de (x;y é calculada. Quando a estatística T2² é maior que um valor especificado UCL2, a amostra é classificada como não conforme. De acordo com a regra especial de decisão, o alarme é baseado no número de amostras entre duas não conformes. O gráfico proposto é mais ágil e mais simples do ponto de vista operacional que o gráfico de controle bivariado com tamanho de amostras variável.

  19. Application of bivariate mapping for hydrological classification and analysis of temporal change and scale effects in Switzerland

    NARCIS (Netherlands)

    Speich, Matthias J.R.; Bernhard, Luzi; Teuling, Ryan; Zappa, Massimiliano

    2015-01-01

    Hydrological classification schemes are important tools for assessing the impacts of a changing climate on the hydrology of a region. In this paper, we present bivariate mapping as a simple means of classifying hydrological data for a quantitative and qualitative assessment of temporal change. Bi

  20. On the Relationship between Pearson Correlation Coefficient and Kendall’s Tau under Bivariate Homogeneous Shock Model

    OpenAIRE

    Jiantian Wang

    2012-01-01

    This paper studies the relationship between Kendall's tau and Pearson correlation coefficient under the so-called bivariate homogeneous shock (BHS) model. We find Capéraà-Genest-type inequality may not hold for general BHS model. Computational simulations suggest that the Denials' inequality is likely to be true.

  1. Modeling both of the number of pausibacillary and multibacillary leprosy patients by using bivariate poisson regression

    Science.gov (United States)

    Winahju, W. S.; Mukarromah, A.; Putri, S.

    2015-03-01

    Leprosy is a chronic infectious disease caused by bacteria of leprosy (Mycobacterium leprae). Leprosy has become an important thing in Indonesia because its morbidity is quite high. Based on WHO data in 2014, in 2012 Indonesia has the highest number of new leprosy patients after India and Brazil with a contribution of 18.994 people (8.7% of the world). This number makes Indonesia automatically placed as the country with the highest number of leprosy morbidity of ASEAN countries. The province that most contributes to the number of leprosy patients in Indonesia is East Java. There are two kind of leprosy. They consist of pausibacillary and multibacillary. The morbidity of multibacillary leprosy is higher than pausibacillary leprosy. This paper will discuss modeling both of the number of multibacillary and pausibacillary leprosy patients as responses variables. These responses are count variables, so modeling will be conducted by using bivariate poisson regression method. Unit experiment used is in East Java, and predictors involved are: environment, demography, and poverty. The model uses data in 2012, and the result indicates that all predictors influence significantly.

  2. Effects of three heavy metals on the bacteria growth kinetics. A bivariate model for toxicological assessment

    Energy Technology Data Exchange (ETDEWEB)

    Rial, Diego; Vazquez, Jose Antonio; Murado, Miguel Anxo [Instituto de Investigacions Marinas (CSIC), Vigo (ES). Grupo de Reciclado y Valorizacion de Materiales Residuales (REVAL)

    2011-05-15

    The effects of three heavy metals (Co, Ni and Cd) on the growth kinetics of five bacterial strains with different characteristics (Pseudomonas sp., Phaeobacter sp. strain 27-4, Listonella anguillarum, Carnobacterium piscicola and Leuconostoc mesenteroides subsp. lysis) were studied in a batch system. A bivariate model, function of time and dose, is proposed to describe simultaneously all the kinetic profiles obtained by incubating a microorganism at increasing concentrations of individual metals. This model combines the logistic equation for describing growth, with a modification of the cumulative Weibull's function for describing the dose-dependent variations of growth parameters. The comprehensive model thus obtained - which minimizes the effects of the experimental error - was statistically significant in all the studied cases, and it raises doubts about toxicological evaluations that are based on a single growth parameter, especially if it is not obtained from a kinetic equation. In lactic acid bacteria cultures (C. piscicola and L. mesenteroides), Cd induced remarkable differences in yield and time course of characteristic metabolites. A global parameter is defined (ED{sub 50,{tau}}: dose of toxic chemical that reduces the biomass of a culture by 50% compared to that produced by the control at the time corresponding to its semi maximum biomass) that allows comparing toxic effects on growth kinetics using a single value. (orig.)

  3. A stochastic model for the analysis of bivariate longitudinal AIDS data.

    Science.gov (United States)

    Sy, J P; Taylor, J M; Cumberland, W G

    1997-06-01

    We present a model for multivariate repeated measures that incorporates random effects, correlated stochastic processes, and measurement errors. The model is a multivariate generalization of the model for univariate longitudinal data given by Taylor, Cumberland, and Sy (1994, Journal of the American Statistical Association 89, 727-736). The stochastic process used in this paper is the multivariate integrated Ornstein-Uhlenbeck (OU) process, which includes Brownian motion and a random effects model as special limiting cases. This process is an underlying continuous-time autoregressive order [AR(1)] process for the derivatives of the multivariate observations. The model allows unequally spaced observations and missing values for some of the variables. We analyze CD4 T-cell and beta-2-microglobulin measurements of the seroconverters at multiple time points from the Los Angeles section of the Multicenter AIDS Cohort Study. The model allows us to investigate the relationship between CD4 and beta-2-microglobulin through the correlations between their random effects and their serial correlation. The data suggest that CD4 and beta-2-microglobulin follow a bivariate Brownian motion process. The fit of the model implies that an increase in beta-2-microglobulin is associated with a decrease in future CD4 but not vice versa, agreeing with immunologic postulates about the relationship between these two variables.

  4. A penalized likelihood approach for bivariate conditional normal models for dynamic co-expression analysis.

    Science.gov (United States)

    Chen, Jun; Xie, Jichun; Li, Hongzhe

    2011-03-01

    Gene co-expressions have been widely used in the analysis of microarray gene expression data. However, the co-expression patterns between two genes can be mediated by cellular states, as reflected by expression of other genes, single nucleotide polymorphisms, and activity of protein kinases. In this article, we introduce a bivariate conditional normal model for identifying the variables that can mediate the co-expression patterns between two genes. Based on this model, we introduce a likelihood ratio (LR) test and a penalized likelihood procedure for identifying the mediators that affect gene co-expression patterns. We propose an efficient computational algorithm based on iterative reweighted least squares and cyclic coordinate descent and have shown that when the tuning parameter in the penalized likelihood is appropriately selected, such a procedure has the oracle property in selecting the variables. We present simulation results to compare with existing methods and show that the LR-based approach can perform similarly or better than the existing method of liquid association and the penalized likelihood procedure can be quite effective in selecting the mediators. We apply the proposed method to yeast gene expression data in order to identify the kinases or single nucleotide polymorphisms that mediate the co-expression patterns between genes.

  5. A Bivariate Pseudo-Likelihood for Incomplete Longitudinal Binary Data with Nonignorable Non-monotone Missingness

    Science.gov (United States)

    Sinha, Sanjoy K.; Troxel, Andrea B.; Lipsitz, Stuart R.; Sinha, Debajyoti; Fitzmaurice, Garrett M.; Molenberghs, Geert; Ibrahim, Joseph G.

    2010-01-01

    Summary For analyzing longitudinal binary data with nonignorable and non-monotone missing responses, a full likelihood method is complicated algebraically, and often requires intensive computation, especially when there are many follow-up times. As an alternative, a pseudo-likelihood approach has been proposed in the literature under minimal parametric assumptions. This formulation only requires specification of the marginal distributions of the responses and missing data mechanism, and uses an independence working assumption. However, this estimator can be inefficient for estimating both time-varying and time-stationary effects under moderate to strong within-subject associations among repeated responses. In this article, we propose an alternative estimator, based on a bivariate pseudo-likelihood, and demonstrate in simulations that the proposed method can be much more efficient than the previous pseudo-likelihood obtained under the assumption of independence. We illustrate the method using longitudinal data on CD4 counts from two clinical trials of HIV-infected patients. PMID:21155748

  6. Bayesian Data Analysis with the Bivariate Hierarchical Ornstein-Uhlenbeck Process Model.

    Science.gov (United States)

    Oravecz, Zita; Tuerlinckx, Francis; Vandekerckhove, Joachim

    2016-01-01

    In this paper, we propose a multilevel process modeling approach to describing individual differences in within-person changes over time. To characterize changes within an individual, repeated measures over time are modeled in terms of three person-specific parameters: a baseline level, intraindividual variation around the baseline, and regulatory mechanisms adjusting toward baseline. Variation due to measurement error is separated from meaningful intraindividual variation. The proposed model allows for the simultaneous analysis of longitudinal measurements of two linked variables (bivariate longitudinal modeling) and captures their relationship via two person-specific parameters. Relationships between explanatory variables and model parameters can be studied in a one-stage analysis, meaning that model parameters and regression coefficients are estimated simultaneously. Mathematical details of the approach, including a description of the core process model-the Ornstein-Uhlenbeck model-are provided. We also describe a user friendly, freely accessible software program that provides a straightforward graphical interface to carry out parameter estimation and inference. The proposed approach is illustrated by analyzing data collected via self-reports on affective states.

  7. Improved deadzone modeling for bivariate wavelet shrinkage-based image denoising

    Science.gov (United States)

    DelMarco, Stephen

    2016-05-01

    Modern image processing performed on-board low Size, Weight, and Power (SWaP) platforms, must provide high- performance while simultaneously reducing memory footprint, power consumption, and computational complexity. Image preprocessing, along with downstream image exploitation algorithms such as object detection and recognition, and georegistration, place a heavy burden on power and processing resources. Image preprocessing often includes image denoising to improve data quality for downstream exploitation algorithms. High-performance image denoising is typically performed in the wavelet domain, where noise generally spreads and the wavelet transform compactly captures high information-bearing image characteristics. In this paper, we improve modeling fidelity of a previously-developed, computationally-efficient wavelet-based denoising algorithm. The modeling improvements enhance denoising performance without significantly increasing computational cost, thus making the approach suitable for low-SWAP platforms. Specifically, this paper presents modeling improvements to the Sendur-Selesnick model (SSM) which implements a bivariate wavelet shrinkage denoising algorithm that exploits interscale dependency between wavelet coefficients. We formulate optimization problems for parameters controlling deadzone size which leads to improved denoising performance. Two formulations are provided; one with a simple, closed form solution which we use for numerical result generation, and the second as an integral equation formulation involving elliptic integrals. We generate image denoising performance results over different image sets drawn from public domain imagery, and investigate the effect of wavelet filter tap length on denoising performance. We demonstrate denoising performance improvement when using the enhanced modeling over performance obtained with the baseline SSM model.

  8. A bivariate quantitative genetic model for a linear Gaussian trait and a survival trait

    Directory of Open Access Journals (Sweden)

    Damgaard Lars

    2005-12-01

    Full Text Available Abstract With the increasing use of survival models in animal breeding to address the genetic aspects of mainly longevity of livestock but also disease traits, the need for methods to infer genetic correlations and to do multivariate evaluations of survival traits and other types of traits has become increasingly important. In this study we derived and implemented a bivariate quantitative genetic model for a linear Gaussian and a survival trait that are genetically and environmentally correlated. For the survival trait, we considered the Weibull log-normal animal frailty model. A Bayesian approach using Gibbs sampling was adopted. Model parameters were inferred from their marginal posterior distributions. The required fully conditional posterior distributions were derived and issues on implementation are discussed. The twoWeibull baseline parameters were updated jointly using a Metropolis-Hastingstep. The remaining model parameters with non-normalized fully conditional distributions were updated univariately using adaptive rejection sampling. Simulation results showed that the estimated marginal posterior distributions covered well and placed high density to the true parameter values used in the simulation of data. In conclusion, the proposed method allows inferring additive genetic and environmental correlations, and doing multivariate genetic evaluation of a linear Gaussian trait and a survival trait.

  9. A bivariate quantitative genetic model for a linear Gaussian trait and a survival trait.

    Science.gov (United States)

    Damgaard, Lars Holm; Korsgaard, Inge Riis

    2006-01-01

    With the increasing use of survival models in animal breeding to address the genetic aspects of mainly longevity of livestock but also disease traits, the need for methods to infer genetic correlations and to do multivariate evaluations of survival traits and other types of traits has become increasingly important. In this study we derived and implemented a bivariate quantitative genetic model for a linear Gaussian and a survival trait that are genetically and environmentally correlated. For the survival trait, we considered the Weibull log-normal animal frailty model. A Bayesian approach using Gibbs sampling was adopted. Model parameters were inferred from their marginal posterior distributions. The required fully conditional posterior distributions were derived and issues on implementation are discussed. The two Weibull baseline parameters were updated jointly using a Metropolis-Hasting step. The remaining model parameters with non-normalized fully conditional distributions were updated univariately using adaptive rejection sampling. Simulation results showed that the estimated marginal posterior distributions covered well and placed high density to the true parameter values used in the simulation of data. In conclusion, the proposed method allows inferring additive genetic and environmental correlations, and doing multivariate genetic evaluation of a linear Gaussian trait and a survival trait.

  10. A bivariate binormal ROC methodology for comparing new methods to an existing standard for screening applications

    Science.gov (United States)

    Abbey, Craig K.; Insana, Michael F.; Eckstein, Miguel P.; Boone, John M.

    2007-03-01

    Validating the use of new imaging technologies for screening large patient populations is an important and very challenging area of diagnostic imaging research. A particular concern in ROC studies evaluating screening technologies is the problem of verification bias, in which an independent verification of disease status is only available for a subpopulation of patients, typically those with positive results by a current screening standard. For example, in screening mammography, a study might evaluate a new approach using a sample of patients that have undergone needle biopsy following a standard mammogram and subsequent work-up. This case sampling approach provides accurate independent verification of ground truth and increases the prevalence of disease cases. However, the selection criteria will likely bias results of the study. In this work we present an initial exploration of an approach to correcting this bias within the parametric framework of binormal assumptions. We posit conditionally bivariate normal distributions on the latent decision variable for both the new methodology as well as the screening standard. In this case, verification bias can be seen as the effect of missing data from an operating point in the screening standard. We examine the magnitude of this bias in the setting of breast cancer screening with mammography, and we derive a maximum likelihood approach to estimating bias corrected ROC curves in this model.

  11. Univariate description and bivariate statistical inference: the first step delving into data.

    Science.gov (United States)

    Zhang, Zhongheng

    2016-03-01

    In observational studies, the first step is usually to explore data distribution and the baseline differences between groups. Data description includes their central tendency (e.g., mean, median, and mode) and dispersion (e.g., standard deviation, range, interquartile range). There are varieties of bivariate statistical inference methods such as Student's t-test, Mann-Whitney U test and Chi-square test, for normal, skews and categorical data, respectively. The article shows how to perform these analyses with R codes. Furthermore, I believe that the automation of the whole workflow is of paramount importance in that (I) it allows for others to repeat your results; (II) you can easily find out how you performed analysis during revision; (III) it spares data input by hand and is less error-prone; and (IV) when you correct your original dataset, the final result can be automatically corrected by executing the codes. Therefore, the process of making a publication quality table incorporating all abovementioned statistics and P values is provided, allowing readers to customize these codes to their own needs.

  12. Bivariate spatial analysis of temperature and precipitation from general circulation models and observation proxies

    KAUST Repository

    Philbin, R.

    2015-05-22

    This study validates the near-surface temperature and precipitation output from decadal runs of eight atmospheric ocean general circulation models (AOGCMs) against observational proxy data from the National Centers for Environmental Prediction/National Center for Atmospheric Research (NCEP/NCAR) reanalysis temperatures and Global Precipitation Climatology Project (GPCP) precipitation data. We model the joint distribution of these two fields with a parsimonious bivariate Matérn spatial covariance model, accounting for the two fields\\' spatial cross-correlation as well as their own smoothnesses. We fit output from each AOGCM (30-year seasonal averages from 1981 to 2010) to a statistical model on each of 21 land regions. Both variance and smoothness values agree for both fields over all latitude bands except southern mid-latitudes. Our results imply that temperature fields have smaller smoothness coefficients than precipitation fields, while both have decreasing smoothness coefficients with increasing latitude. Models predict fields with smaller smoothness coefficients than observational proxy data for the tropics. The estimated spatial cross-correlations of these two fields, however, are quite different for most GCMs in mid-latitudes. Model correlation estimates agree well with those for observational proxy data for Australia, at high northern latitudes across North America, Europe and Asia, as well as across the Sahara, India, and Southeast Asia, but elsewhere, little consistent agreement exists.

  13. The Bivariate Size-luminosity Relations for Lyman Break Galaxies at z ~ 4 - 5

    CERN Document Server

    Huang, Kuang-Han; Ravindranath, Swara; Su, Jian

    2013-01-01

    We study the bivariate size-luminosity distribution of Lyman Break Galaxies (LBGs) selected at redshifts around 4 and 5 in GOODS and the HUDF fields. We model the size-luminosity distribution as a combination of log-normal distribution (in size) and Schechter function (in luminosity), therefore it enables a more detailed study of the selection effects. We perform extensive simulations to quantify the dropout-selection completenesses and measurement biases and uncertainties in two-dimensional size and magnitude bins, and transform the theoretical size-luminosity distribution to the expected distribution for the observed data. Using maximum-likelihood estimator (MLE), we find that the Schechter function parameters for B-dropouts are \\alpha=-1.68^{+0.068}_{-0.095}, M*=-20.60^{+0.13}_{-0.17}, and \\phi*=1.79^{+0.32}_{-0.52} x 10^{-3} Mpc^{-3}. The log-normal size distribution is characterized by the peak R_0=1.34^{+0.099}_{-0.108} kpc at M_{1500}=-21 mag, width \\sigma_{\\lnR}=0.83^{+0.046}_{-0.044}, and the slope o...

  14. Karyotypic and molecular polymorphisms in Ctenomys torquatus (Rodentia: Ctenomyidae): taxonomic considerations.

    Science.gov (United States)

    Fernandes, Fabiano A; Gonçalves, Gislene L; Ximenes, Simone S F; de Freitas, Thales R O

    2009-07-01

    The rodent genus Ctenomys (tuco-tucos) comprises more than 60 described species, and shows extraordinary inter- and intraspecific karyotypic variation. The most widely distributed species of Ctenomys in Brazil is C. torquatus. Although several cytogenetic studies have been done, the karyotypic variability of this species is still poorly known. In this paper we report two new diploid numbers for C. torquatus: 2n = 40 and 2n = 42, both showing AN = 72. The new distribution limits of C. torquatus here reported include localities in the southern, central and western parts of Rio Grande do Sul (RS) State in southern Brazil. The phylogenetic relationship between C. torquatus from Alegrete, RS, and Ctenomys sp. from Corrientes, Argentina, is described by means of mtDNA cytochrome b analysis. Although both entities share similar karyotypes and sperm morphology, these two species are not phylogenetically close.

  15. El cariotipo fundamental de Alstroemeria patagonica (Alstroemeriaceae The fundamental karyotype of Alstroemeria patagonia (Alstroemeriaceae

    Directory of Open Access Journals (Sweden)

    Carlos M Baeza

    2011-12-01

    Full Text Available Se describe el cariotipo de Alstroemeria patagonica Phil. a partir de material de Chile. Esta especie presenta un cariotipo 2n = 2x = 16, y una fórmula haploide de 1m + 2sm + 1sm-sat + 2st + 1st-sat + 1t. El cariotipo encontrado es muy asimétrico (AsK % = 76,0.The karyotype of Alstroemeria patagonia Phil. from Chile was described. The species had a karyotype 2n = 2x = 16, and the haploid formula was 1m + 2sm + 1sm-sat + 2st + 1st-sat + 1t. The reported karyotype was very asymmetric (AsK % = 76.0.

  16. [Karyotype and divergence of stream Dolly Varden from the Southern Sakhalin].

    Science.gov (United States)

    Frolov, S V; Miller, I N; Frolova, V N

    2000-03-01

    The karyotype of stream Dolly Varden inhabiting a tributary of the Belaya River (the basin of Naiba River, southern Sakhalin) was determined (2n = 82 and NF = 98 + 2). According to the main characteristics (chromosome number and arm number, the presence of a pair of marker submeta-subtelocentric chromosomes with nucleolus organizer regions (NORs), one pair of large acrocentric chromosomes, and one pair of subtelocentric chromosomes), this karyotype is identical to the karyotype of anadromous southern Dolly Varden from Salvelinus malma krasheninnikovi of Primorye and Japan. However, in most stream Dolly Varden individuals, additional active nucleolus organizer regions (NORs) located in telomeric and paracentric regions of two to three pairs of acrocentric chromosomes were revealed. It is suggested that the stream and anadromous southern forms of Dolly Varden are evolutionarily related NORs that are silent in the anadromous souther form are active in the stream form. Possible causes of these differences in NOR activity are discussed.

  17. Digital karyotyping reveals probable target genes at 7q21.3 locus in hepatocellular carcinoma

    Directory of Open Access Journals (Sweden)

    Wang Shengyue

    2011-07-01

    Full Text Available Abstract Background Hepatocellular carcinoma (HCC is a worldwide malignant liver tumor with high incidence in China. Subchromosomal amplifications and deletions accounted for major genomic alterations occurred in HCC. Digital karyotyping was an effective method for analyzing genome-wide chromosomal aberrations at high resolution. Methods A digital karyotyping library of HCC was constructed and 454 Genome Sequencer FLX System (Roche was applied in large scale sequencing of the library. Digital Karyotyping Data Viewer software was used to analyze genomic amplifications and deletions. Genomic amplifications of genes detected by digital karyotyping were examined by real-time quantitative PCR. The mRNA expression level of these genes in tumorous and paired nontumorous tissues was also detected by real-time quantitative RT-PCR. Results A total of 821,252 genomic tags were obtained from the digital karyotyping library of HCC, with 529,162 tags (64% mapped to unique loci of human genome. Multiple subchromosomal amplifications and deletions were detected through analyzing the digital karyotyping data, among which the amplification of 7q21.3 drew our special attention. Validation of genes harbored within amplicons at 7q21.3 locus revealed that genomic amplification of SGCE, PEG10, DYNC1I1 and SLC25A13 occurred in 11 (21%, 11 (21%, 11 (21% and 23 (44% of the 52 HCC samples respectively. Furthermore, the mRNA expression level of SGCE, PEG10 and DYNC1I1 were significantly up-regulated in tumorous liver tissues compared with corresponding nontumorous counterparts. Conclusions Our results indicated that subchromosomal region of 7q21.3 was amplified in HCC, and SGCE, PEG10 and DYNC1I1 were probable protooncogenes located within the 7q21.3 locus.

  18. 46,XX Karyotype in a Male with Ambigious Genitalia: A Case Report

    Directory of Open Access Journals (Sweden)

    Mahmut Balkan

    2004-01-01

    Full Text Available 40 days old case who were diagnosed with ambigious genitalia were sentto laboratory of cytogenetics. Mother was 26 years old and have to alivechildren and case were the second child and applied to Child SurgeryDepartment due to continiously vomiting and uneasy conditions. Sexualdevelopment were as male on physical examinations. Cell culture wasapplied for chromosomal analysis. Slides were stained with GiemsaBanding Staining (GTG and 100 cells were totaly counted and karyotypingwere done with 15 metaphase. Chromosome with 46,XX karyotype. Casewere taken under consideration of congenital adrenel hyperplasia afterevalution of karyotype. Case were discussed according to by information ofpresents literatures.

  19. Error Estimates of Fitting for Bivariate Fractal Interpolation%二元分形插值的拟合误差估计

    Institute of Scientific and Technical Information of China (English)

    王宏勇

    2009-01-01

    A given bivariate continuous function is fitted by using a bivariate fractal interpolation function, and the error of fitting is studied in this paper. The results of error estimates are obtained in two metric cases. This provides a theoretical basis for the algorithms of fractal surface reconstruction.

  20. Description of a new species and the karyotype of the cavernicolous millipede Pseudonannolene Silvestri and the karyotype of Pseudonannolene strinatti Mauriès (Diplopoda, Pseudonannolenida, Pseudonannolenidae

    Directory of Open Access Journals (Sweden)

    Carmem Silvia Fontanetti

    1996-01-01

    Full Text Available Pseudonannolene tocaiensis, sp.n. is described from Brazil, São Paulo, Itirapina. The karyotypes of P. tocaiensis, sp.n. and P. strinatti Mauriès, 1974 are also presented, both species are found in cave environments. P. tocaiensis has 2n=20, XY and P. strinatti, 2n=16; it was not possible to observe the sex determination mechanism in the latter.

  1. Assessing protein conformational sampling methods based on bivariate lag-distributions of backbone angles

    KAUST Repository

    Maadooliat, Mehdi

    2012-08-27

    Despite considerable progress in the past decades, protein structure prediction remains one of the major unsolved problems in computational biology. Angular-sampling-based methods have been extensively studied recently due to their ability to capture the continuous conformational space of protein structures. The literature has focused on using a variety of parametric models of the sequential dependencies between angle pairs along the protein chains. In this article, we present a thorough review of angular-sampling-based methods by assessing three main questions: What is the best distribution type to model the protein angles? What is a reasonable number of components in a mixture model that should be considered to accurately parameterize the joint distribution of the angles? and What is the order of the local sequence-structure dependency that should be considered by a prediction method? We assess the model fits for different methods using bivariate lag-distributions of the dihedral/planar angles. Moreover, the main information across the lags can be extracted using a technique called Lag singular value decomposition (LagSVD), which considers the joint distribution of the dihedral/planar angles over different lags using a nonparametric approach and monitors the behavior of the lag-distribution of the angles using singular value decomposition. As a result, we developed graphical tools and numerical measurements to compare and evaluate the performance of different model fits. Furthermore, we developed a web-tool (http://www.stat.tamu. edu/~madoliat/LagSVD) that can be used to produce informative animations. © The Author 2012. Published by Oxford University Press.

  2. New Colors for Histology: Optimized Bivariate Color Maps Increase Perceptual Contrast in Histological Images.

    Directory of Open Access Journals (Sweden)

    Jakob Nikolas Kather

    Full Text Available Accurate evaluation of immunostained histological images is required for reproducible research in many different areas and forms the basis of many clinical decisions. The quality and efficiency of histopathological evaluation is limited by the information content of a histological image, which is primarily encoded as perceivable contrast differences between objects in the image. However, the colors of chromogen and counterstain used for histological samples are not always optimally distinguishable, even under optimal conditions.In this study, we present a method to extract the bivariate color map inherent in a given histological image and to retrospectively optimize this color map. We use a novel, unsupervised approach based on color deconvolution and principal component analysis to show that the commonly used blue and brown color hues in Hematoxylin-3,3'-Diaminobenzidine (DAB images are poorly suited for human observers. We then demonstrate that it is possible to construct improved color maps according to objective criteria and that these color maps can be used to digitally re-stain histological images.To validate whether this procedure improves distinguishability of objects and background in histological images, we re-stain phantom images and N = 596 large histological images of immunostained samples of human solid tumors. We show that perceptual contrast is improved by a factor of 2.56 in phantom images and up to a factor of 2.17 in sets of histological tumor images.Thus, we provide an objective and reliable approach to measure object distinguishability in a given histological image and to maximize visual information available to a human observer. This method could easily be incorporated in digital pathology image viewing systems to improve accuracy and efficiency in research and diagnostics.

  3. A bivariate quantitative genetic model for a threshold trait and a survival trait

    Directory of Open Access Journals (Sweden)

    Damgaard Lars

    2006-11-01

    Full Text Available Abstract Many of the functional traits considered in animal breeding can be analyzed as threshold traits or survival traits with examples including disease traits, conformation scores, calving difficulty and longevity. In this paper we derive and implement a bivariate quantitative genetic model for a threshold character and a survival trait that are genetically and environmentally correlated. For the survival trait, we considered the Weibull log-normal animal frailty model. A Bayesian approach using Gibbs sampling was adopted in which model parameters were augmented with unobserved liabilities associated with the threshold trait. The fully conditional posterior distributions associated with parameters of the threshold trait reduced to well known distributions. For the survival trait the two baseline Weibull parameters were updated jointly by a Metropolis-Hastings step. The remaining model parameters with non-normalized fully conditional distributions were updated univariately using adaptive rejection sampling. The Gibbs sampler was tested in a simulation study and illustrated in a joint analysis of calving difficulty and longevity of dairy cattle. The simulation study showed that the estimated marginal posterior distributions covered well and placed high density to the true values used in the simulation of data. The data analysis of calving difficulty and longevity showed that genetic variation exists for both traits. The additive genetic correlation was moderately favorable with marginal posterior mean equal to 0.37 and 95% central posterior credibility interval ranging between 0.11 and 0.61. Therefore, this study suggests that selection for improving one of the two traits will be beneficial for the other trait as well.

  4. A bivariate quantitative genetic model for a threshold trait and a survival trait.

    Science.gov (United States)

    Damgaard, Lars Holm; Korsgaard, Inge Riis

    2006-01-01

    Many of the functional traits considered in animal breeding can be analyzed as threshold traits or survival traits with examples including disease traits, conformation scores, calving difficulty and longevity. In this paper we derive and implement a bivariate quantitative genetic model for a threshold character and a survival trait that are genetically and environmentally correlated. For the survival trait, we considered the Weibull log-normal animal frailty model. A Bayesian approach using Gibbs sampling was adopted in which model parameters were augmented with unobserved liabilities associated with the threshold trait. The fully conditional posterior distributions associated with parameters of the threshold trait reduced to well known distributions. For the survival trait the two baseline Weibull parameters were updated jointly by a Metropolis-Hastings step. The remaining model parameters with non-normalized fully conditional distributions were updated univariately using adaptive rejection sampling. The Gibbs sampler was tested in a simulation study and illustrated in a joint analysis of calving difficulty and longevity of dairy cattle. The simulation study showed that the estimated marginal posterior distributions covered well and placed high density to the true values used in the simulation of data. The data analysis of calving difficulty and longevity showed that genetic variation exists for both traits. The additive genetic correlation was moderately favorable with marginal posterior mean equal to 0.37 and 95% central posterior credibility interval ranging between 0.11 and 0.61. Therefore, this study suggests that selection for improving one of the two traits will be beneficial for the other trait as well.

  5. The return period analysis of natural disasters with statistical modeling of bivariate joint probability distribution.

    Science.gov (United States)

    Li, Ning; Liu, Xueqin; Xie, Wei; Wu, Jidong; Zhang, Peng

    2013-01-01

    New features of natural disasters have been observed over the last several years. The factors that influence the disasters' formation mechanisms, regularity of occurrence and main characteristics have been revealed to be more complicated and diverse in nature than previously thought. As the uncertainty involved increases, the variables need to be examined further. This article discusses the importance and the shortage of multivariate analysis of natural disasters and presents a method to estimate the joint probability of the return periods and perform a risk analysis. Severe dust storms from 1990 to 2008 in Inner Mongolia were used as a case study to test this new methodology, as they are normal and recurring climatic phenomena on Earth. Based on the 79 investigated events and according to the dust storm definition with bivariate, the joint probability distribution of severe dust storms was established using the observed data of maximum wind speed and duration. The joint return periods of severe dust storms were calculated, and the relevant risk was analyzed according to the joint probability. The copula function is able to simulate severe dust storm disasters accurately. The joint return periods generated are closer to those observed in reality than the univariate return periods and thus have more value in severe dust storm disaster mitigation, strategy making, program design, and improvement of risk management. This research may prove useful in risk-based decision making. The exploration of multivariate analysis methods can also lay the foundation for further applications in natural disaster risk analysis. © 2012 Society for Risk Analysis.

  6. FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty

    DEFF Research Database (Denmark)

    Hagen, Casper P; Main, Katharina M; Kjaergaard, Susanne

    2010-01-01

    Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function.......Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function....

  7. FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty

    DEFF Research Database (Denmark)

    Hagen, Casper P; Main, Katharina M; Kjaergaard, Susanne;

    2010-01-01

    Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function.......Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function....

  8. Cytogenetic characterization of olive flounder Paralichthys olivaceus: DNA content, karyotype, AgNORs and location of major ribosomal genes

    Institute of Scientific and Technical Information of China (English)

    WANG Xubo; ZHANG Quanqi; CHEN Yanjie; QI Jie; WANG Zhigang; WANG Xinglian

    2009-01-01

    A cytogenetic analysis of Paralichthys olivaceus was carried out using the flow cytometry method for DNA content, silver staining for the nucleolus organizer region (AgNORs) identification and one-color fluorescence in situ hybridization (FISH) for chromosomal mapping of major ribosomal genes. Nuclear DNA content was estimated by flow cytometry method using Gallus domesticus erythrocytes as the internal reference standard. The C-value of this species was (0.737±0.024) pg, and the DNA contents of each chromosome were estimated to be 16.51 Mb to 39.50 Mb after paired according to the average relative length. The FISH probe was made by PCR amplification of a DNA fragment containing internal transcribed spacers ITS1 between 18S and 5.8S ribosomal RNA gene, and labeled by PCR incorporation of bio-16-dUTP. FISH signals and AgNORs were both located on the secondary constrictions of chromosome 1. These results will provide a better understanding of the cytogenetic information of this species and would help for further research of the karyotype evolution in the order Pleuronectiformes.

  9. On the level of skill in predicting maximum sunspot number - A comparative study of single variate and bivariate precursor techniques

    Science.gov (United States)

    Wilson, Robert M.

    1990-01-01

    The level of skill in predicting the size of the sunspot cycle is investigated for the two types of precursor techniques, single variate and bivariate fits, both applied to cycle 22. The present level of growth in solar activity is compared to the mean level of growth (cycles 10-21) and to the predictions based on the precursor techniques. It is shown that, for cycle 22, both single variate methods (based on geomagnetic data) and bivariate methods suggest a maximum amplitude smaller than that observed for cycle 19, and possibly for cycle 21. Compared to the mean cycle, cycle 22 is presently behaving as if it were a +2.6 sigma cycle (maximum amplitude of about 225), which means that either it will be the first cycle not to be reliably predicted by the combined precursor techniques or its deviation relative to the mean cycle will substantially decrease over the next 18 months.

  10. A non-parametric conditional bivariate reference region with an application to height/weight measurements on normal girls

    DEFF Research Database (Denmark)

    Petersen, Jørgen Holm

    2009-01-01

    A conceptually simple two-dimensional conditional reference curve is described. The curve gives a decision basis for determining whether a bivariate response from an individual is "normal" or "abnormal" when taking into account that a third (conditioning) variable may influence the bivariate...... response. The reference curve is not only characterized analytically but also by geometric properties that are easily communicated to medical doctors - the users of such curves. The reference curve estimator is completely non-parametric, so no distributional assumptions are needed about the two......-dimensional response. An example that will serve to motivate and illustrate the reference is the study of the height/weight distribution of 7-8-year-old Danish school girls born in 1930, 1950, or 1970....

  11. Epigenomic and transcriptomic signatures of a Klinefelter syndrome (47,XXY) karyotype in the brain.

    Science.gov (United States)

    Viana, Joana; Pidsley, Ruth; Troakes, Claire; Spiers, Helen; Wong, Chloe Cy; Al-Sarraj, Safa; Craig, Ian; Schalkwyk, Leonard; Mill, Jonathan

    2014-04-01

    Klinefelter syndrome (KS) is the most common sex-chromosome aneuploidy in humans. Most affected individuals carry one extra X-chromosome (47,XXY karyotype) and the condition presents with a heterogeneous mix of reproductive, physical and psychiatric phenotypes. Although the mechanism(s) by which the supernumerary X-chromosome determines these features of KS are poorly understood, skewed X-chromosome inactivation (XCI), gene-dosage dysregulation, and the parental origin of the extra X-chromosome have all been implicated, suggesting an important role for epigenetic processes. We assessed genomic, methylomic and transcriptomic variation in matched prefrontal cortex and cerebellum samples identifying an individual with a 47,XXY karyotype who was comorbid for schizophrenia and had a notably reduced cerebellum mass compared with other individuals in the study (n = 49). We examined methylomic and transcriptomic differences in this individual relative to female and male samples with 46,XX or 46,XY karyotypes, respectively, and identified numerous locus-specific differences in DNA methylation and gene expression, with many differences being autosomal and tissue-specific. Furthermore, global DNA methylation, assessed via the interrogation of LINE-1 and Alu repetitive elements, was significantly altered in the 47,XXY patient in a tissue-specific manner with extreme hypomethylation detected in the prefrontal cortex and extreme hypermethylation in the cerebellum. This study provides the first detailed molecular characterization of the prefrontal cortex and cerebellum from an individual with a 47,XXY karyotype, identifying widespread tissue-specific epigenomic and transcriptomic alterations in the brain.

  12. Karyotype variability in neotropical catfishes of the family Pimelodidae (Teleostei: Siluriformes

    Directory of Open Access Journals (Sweden)

    Américo Moraes Neto

    Full Text Available Karyotypic data are presented for four species of fish belonging to the Pimelodidae family. These species show a conserved diploid number, 2n = 56 chromosomes, with different karyotypic formulae. The analyzed species showed little amount of heterochromatin located preferentially in the centromeric and telomeric regions of some chromosomes. The nucleolus organizer regions activity (Ag-NORs and the chromosomal location of ribosomal genes by fluorescent in situ hybridization (FISH, with 18S and 5S probes, showing only one chromosome pair marked bearer of ribosomal genes, the only exception was Pimelodus britskii that presented multiple NORs and syntenic location of the 18S and 5S probes. Non-Robertsonian events, as pericentric inversion and NORs duplication are requested to explain the karyotype diversification in Pseudoplatystoma from the rio Paraguay (MS, Pimelodus from the rio Iguaçu (PR, Sorubim from the rio Paraguay (MS and Steindachneridion from the rio Paraíba do Sul (SP. The obtained data for the karyotype macrostructure of these species corroborates a conserved pattern observed in Pimelodidae. On the other hand, interspecific variations detected by molecular cytogenetics markers made possible cytotaxonomic inferences and differentiation of the species here analyzed.

  13. Karyotype analysis of Lilium longiflorum and Lilium rubellum by chromosome banding and fluorescence in situ hybridisation

    NARCIS (Netherlands)

    Lim, K.B.; Wennekes, J.; Jong, de J.H.S.G.M.; Jacobsen, E.; Tuyl, van J.M.

    2001-01-01

    Detailed karyotypes of Lilium longiflorum and L. rubellum were constructed on the basis of chromosome arm lengths, C-banding, AgNO3 staining, and PI-DAPI banding, together with fluorescence in situ hybridisation (FISH) with the 5S and 45S rDNA sequences as probes. The C-banding patterns that were

  14. Karyotype Analysis in Wild Diploid, Tetraploid, and Hexaploid Strawberries, Fragaria (Rosaceae)

    Science.gov (United States)

    The Strawberry, genus Fragaria (Rosaceae) has a basic chromosome count of x = 7, and is comprised of 20 wild species having an euploid series from diploid (2n = 2x = 14) through decaploid (2n = 10x = 70). Few karyotypes of species in this genus have been reported. The objective of this research was ...

  15. Comparative Chromosome Map and Heterochromatin Features of the Gray Whale Karyotype (Cetacea).

    Science.gov (United States)

    Kulemzina, Anastasia I; Proskuryakova, Anastasia A; Beklemisheva, Violetta R; Lemskaya, Natalia A; Perelman, Polina L; Graphodatsky, Alexander S

    2016-01-01

    Cetacean karyotypes possess exceptionally stable diploid numbers and highly conserved chromosomes. To date, only toothed whales (Odontoceti) have been analyzed by comparative chromosome painting. Here, we studied the karyotype of a representative of baleen whales, the gray whale (Eschrichtius robustus, Mysticeti), by Zoo-FISH with dromedary camel and human chromosome-specific probes. We confirmed a high degree of karyotype conservation and found an identical order of syntenic segments in both branches of cetaceans. Yet, whale chromosomes harbor variable heterochromatic regions constituting up to a third of the genome due to the presence of several types of repeats. To investigate the cause of this variability, several classes of repeated DNA sequences were mapped onto chromosomes of whale species from both Mysticeti and Odontoceti. We uncovered extensive intrapopulation variability in the size of heterochromatic blocks present in homologous chromosomes among 3 individuals of the gray whale by 2-step differential chromosome staining. We show that some of the heteromorphisms observed in the gray whale karyotype are due to distinct amplification of a complex of common cetacean repeat and heavy satellite repeat on homologous autosomes. Furthermore, we demonstrate localization of the telomeric repeat in the heterochromatin of both gray and pilot whale (Globicephala melas, Odontoceti). Heterochromatic blocks in the pilot whale represent a composite of telomeric and common repeats, while heavy satellite repeat is lacking in the toothed whale consistent with previous studies.

  16. Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

    NARCIS (Netherlands)

    Kooper, A.J.A.; Pieters, J.J.; Faas, B.H.W.; Hoefsloot, L.H.; Burgt, C.J.A.M. van der; Zondervan, H.A.; Smits, A.P.T.

    2012-01-01

    ABSTRACT: As a routine, karyotyping of invasive prenatal samples is performed as an adjunct to referrals for DNA mutation detection and metabolic testing. We performed a retrospective study on 500 samples to assess the diagnostic value of this procedure. These samples included 454 (90.8%) chorionic

  17. Karyotype analysis of Lilium longiflorum and Lilium rubellum by chromosome banding and fluorescence in situ hybridisation

    NARCIS (Netherlands)

    Lim, K.B.; Wennekes, J.; Jong, de J.H.S.G.M.; Jacobsen, E.; Tuyl, van J.M.

    2001-01-01

    Detailed karyotypes of Lilium longiflorum and L. rubellum were constructed on the basis of chromosome arm lengths, C-banding, AgNO3 staining, and PI-DAPI banding, together with fluorescence in situ hybridisation (FISH) with the 5S and 45S rDNA sequences as probes. The C-banding patterns that were ob

  18. Karyotypes of four species of Xenodontini snakes (Serpentes: Dipsadidae) and implications for taxonomy

    NARCIS (Netherlands)

    Falcione, C.; Hernando, A.; Barrasso, D.A.; Pietro, di D.

    2016-01-01

    The karyotypes of four South American Xenodontini snake species, Lygophis dilepis, L. meridionalis, L. flavifrenatus and L. anomalus, are here described for the first time. We studied specimens from northeastern Argentina using conventional and silver (Ag-NOR) staining. While the typical ophidian ka

  19. Comparative karyotypic analysis in the Alstroemeria hookeri Lodd. (Alstroemeriaceae) complex sensu Bayer (1987).

    Science.gov (United States)

    Baeza, Carlos; Ruiz, Eduardo; Negritto, María

    2010-01-01

    Alstroemeria L. (Alstroemeriaceae) is an American genus of monocots with two principal distribution centers in Chile and Brazil. In Chile, it is represented by about 32 species, most of them in central Chile, an area known for its high level of endemism. The "complex" Alstroemeriahookeri is endemic to Chile, where it is distributed from the Coquimbo to the Bío-Bío Region. We analyzed the karyotypes of 36 populations of this complex along its natural distribution. Ten metaphases per population were used for chromosome measurements. All analyzed subspecies presented a well defined asymmetric karyotype. The populations of A. hookeri subsp. hookeri collected in the coastal range of the Bío-Bío Region and the populations from the Central Valley of this Region (Pangal del Laja) presented striking morphological differences in the karyotype, mainly on chromosome 3. The population of A. hookeri subsp. recumbens from Pichicuy showed a polymorphism on chromosome 7, which differed from the other analyzed populations of this subspecies. Phenetic analysis suggested that A. hookeri subsp. cummingiana, which showed a more symmetrical karyotype and did not grow in sandy soil, should be alocated to A. cummingiana rather than considered as part of the hookeri complex.

  20. Comparative karyotypic analysis in the Alstroemeria hookeri Lodd. (Alstroemeriaceae complex sensu Bayer (1987

    Directory of Open Access Journals (Sweden)

    Carlos Baeza

    2010-01-01

    Full Text Available Alstroemeria L. (Alstroemeriaceae is an American genus of monocots with two principal distribution centers in Chile and Brazil. In Chile, it is represented by about 32 species, most of them in central Chile, an area known for its high level of endemism. The "complex" Alstroemeria hookeri is endemic to Chile, where it is distributed from the Coquimbo to the Bío-Bío Region. We analyzed the karyotypes of 36 populations of this complex along its natural distribution. Ten metaphases per population were used for chromosome measurements. All analyzed subspecies presented a well defined asymmetric karyotype. The populations of A. hookeri subsp. hookeri collected in the coastal range of the Bío-Bío Region and the populations from the Central Valley of this Region (Pangal del Laja presented striking morphological differences in the karyotype, mainly on chromosome 3. The population of A. hookeri subsp. recumbens from Pichicuy showed a polymorphism on chromosome 7, which differed from the other analyzed populations of this subspecies. Phenetic analysis suggested that A. hookeri subsp. cummingiana, which showed a more symmetrical karyotype and did not grow in sandy soil, should be alocated to A. cummingiana rather than considered as part of the hookeri complex.

  1. Karyotype differentiation of four Cestrum species (Solanaceae based on the physical mapping of repetitive DNA

    Directory of Open Access Journals (Sweden)

    Jéferson Nunes Fregonezi

    2006-01-01

    Full Text Available We studied the karyotypes of four Brazilian Cestrum species (C. amictum, C. intermedium, C. sendtnerianum and C. strigilatum using conventional Feulgen staining, C-Giemsa and C-CMA3/DAPI banding, induction of cold-sensitive regions (CSRs and fluorescent in situ hybridization (FISH with rDNA probes. We found that the karyotypes of all four species was 2n = 2x = 16, with, except for the eighth acrocentric pair, a predominance of meta- and submetacentric chromosomes and various heterochromatin classes. Heterochromatic types previously unreported in Cestrum as neutral C-CMA3(0/DAPI0 bands, CMA3+ bands not associated with NORs, and C-Giemsa/CSR/DAPI- bands were found. The heterochromatic blocks varied in size, number, position and composition. The 45S rDNA probe preferentially located in the terminal and subterminal regions of some chromosomes, while 5S rDNA appeared close to the centromere of the long arm of pair 8. These results suggest that karyotype differentiation can occur mainly due to changes in repetitive DNA, with little modification in the general composition of the conventionally stained karyotype.

  2. Karyotype differentiation of four Cestrum species (Solanaceae) revealed by fluorescent chromosome banding and FISH.

    Science.gov (United States)

    Fernandes, Thiago; de Almeida Rego, Letícia do Nascimento Andrade; Nardy, Mariana; Yuyama, Priscila Mary; Vanzela, André Luís Laforga

    2009-04-01

    The karyotypes of four South American species of Cestrum (C. capsulare,C. corymbosum,C. laevigatum and C. megalophylum) were studied using conventional staining, C-CMA/DAPI chromosome banding and FISH with 45S and 5S rDNA probes. The karyotypes showed a chromosome number of 2n = 2x = 16, with metacentric chromosomes, except for the eighth submeta- to acrocentric pair. Several types of heterochromatin were detected, which varied in size, number, distribution and base composition. The C-CMA(+) bands and 45S rDNA were located predominantly in terminal regions. The C-CMA (+) /DAPI (+) bands appeared in interstitial and terminal regions, and the C-DAPI (+) bands were found in all chromosome regions. The 5S rDNA sites were observed on the long arm of pair 8 in all species except C. capsulare, where they were found in the paracentromeric region of the long arm of pair 4. The differences in band patterns among the species studied here, along with data from other nine species reported in the literature, suggest that the bands are dispersed in an equilocal and non-equilocal manner and that structural rearrangements can be responsible for internal karyotype diversification. However, it is important to point out that the structural changes involving repetitive segments did not culminate in substantial changes in the general karyotype structure concerning chromosome size and morphology.

  3. Karyotype differentiation of four Cestrum species (Solanaceae revealed by fluorescent chromosome banding and FISH

    Directory of Open Access Journals (Sweden)

    Thiago Fernandes

    2009-01-01

    Full Text Available The karyotypes of four South American species of Cestrum (C. capsulare, C. corymbosum, C. laevigatum and C. megalophylum were studied using conventional staining, C-CMA/DAPI chromosome banding and FISH with 45S and 5S rDNA probes. The karyotypes showed a chromosome number of 2n = 2x = 16, with metacentric chromosomes, except for the eighth submeta- to acrocentric pair. Several types of heterochromatin were detected, which varied in size, number, distribution and base composition. The C-CMA+ bands and 45S rDNA were located predominantly in terminal regions. The C-CMA+/DAPI+ bands appeared in interstitial and terminal regions, and the C-DAPI+ bands were found in all chromosome regions. The 5S rDNA sites were observed on the long arm of pair 8 in all species except C. capsulare, where they were found in the paracentromeric region of the long arm of pair 4. The differences in band patterns among the species studied here, along with data from other nine species reported in the literature, suggest that the bands are dispersed in an equilocal and non-equilocal manner and that structural rearrangements can be responsible for internal karyotype diversification. However, it is important to point out that the structural changes involving repetitive segments did not culminate in substantial changes in the general karyotype structure concerning chromosome size and morphology.

  4. Fear of pregnancy loss and fetal karyotyping: a place for third-trimester amniocentesis?

    Science.gov (United States)

    Picone, Olivier; Senat, Marie-Victoire; Rosenblatt, Jonathan; Audibert, François; Tachdjian, Gerard; Frydman, Rene

    2008-01-01

    To assess the complications of third-trimester amniocentesis for fetal karyotyping in women unwilling to accept the fetal loss risks of second-trimester amniocentesis. Retrospective study of singleton pregnancies that underwent a third-trimester amniocentesis for karyotyping. 150 complete charts between 1998 and 2005 were reviewed. The indications were: isolated abnormal second-trimester biochemical markers (n = 57), isolated maternal age >38 years (n = 46), integrated risk (maternal age, first-trimester nuchal translucency, second-trimester maternal serum markers) >1/250 (n = 22), history of chromosomal abnormality (n = 17) or maternal choice (n = 8). The median maternal age and gestational age at sampling were: 40 years (23-48), 32.4 weeks (29.7-37.1). Median interval between amniocentesis, definitive result of amniocentesis, and delivery were 14 days (7-42), and 49 days (10-67) respectively. There were no abnormal karyotypes and no termination of pregnancy. Six women out of 150 (4%) had spontaneous labor before 36 weeks (2% after 36 weeks). The risk of spontaneous labor before 37 weeks after late amniocentesis is 4% (2% before 36 weeks). This technique provides a late but safe reassurance to women who are unwilling to accept the risks of earlier fetal karyotyping. This is of interest to countries such as France where legislation permits late termination of pregnancy. (c) 2007 S. Karger AG, Basel

  5. First karyotype description of Hypostomus iheringii (Regan, 1908: a case of heterochromatic polymorphism

    Directory of Open Access Journals (Sweden)

    Josiane Traldi

    2012-03-01

    Full Text Available In this study, which is the first karyotype analysis of Hypostomus iheringii, nine specimens collected in Córrego da Lapa (tributary of the Passa-Cinco River showed a diploid number of 80 chromosomes. Silver nitrate staining and fluorescence in situ hybridization (FISH with an 18S rDNA probe revealed the presence of multiple nucleolus organizer regions (NORs (chromosome pairs 13, 20, and 34. FISH with a 5S rDNA probe showed that this cistron was only present in chromosome pair 2. When the karyotypes of individual animals were compared, unique heterochromatic polymorphisms were detected on chromosome pairs 1 and 5. Specifically, specimens had heterochromatic blocks (h+h+ on both chromosomes, one chromosome with heterochromatic blocks (h+h- or chromosomes that lacked heterochromatic blocks (h-h-. Considering that heteromorphic pattern is not correlated with variation in size, the process of heterochromatinization might act on the long arms of these chromosomes. In summary, all chromosomal markers indicate that the karyotype of H. iheringii is highly differentiated and that the heterochromatinization of chromosomal segments may have contributed to its karyotypic differentiation.

  6. DNA PLOIDY AND KARYOTYPE IN RECURRENT AND METASTATIC SOFT-TISSUE SARCOMAS

    NARCIS (Netherlands)

    VANDENBERG, E; MOLENAAR, WM; HOEKSTRA, HJ; KAMPS, WA; DEJONG, B

    To study mechanisms involved in evolution of soft tissue sarcomas, we compared DNA ploidy and karyotypes at different stages of their disease in two patients with myxoid liposarcomas (MLS), one with a fibrosarcoma (FS), and two with rhabdomyosarcomas (RMS). None of the MLS samples revealed clearcut

  7. First Description of the Karyotype and Sex Chromosomes in the Komodo Dragon (Varanus komodoensis).

    Science.gov (United States)

    Johnson Pokorná, Martina; Altmanová, Marie; Rovatsos, Michail; Velenský, Petr; Vodička, Roman; Rehák, Ivan; Kratochvíl, Lukáš

    2016-01-01

    The Komodo dragon (Varanus komodoensis) is the largest lizard in the world. Surprisingly, it has not yet been cytogenetically examined. Here, we present the very first description of its karyotype and sex chromosomes. The karyotype consists of 2n = 40 chromosomes, 16 macrochromosomes and 24 microchromosomes. Although the chromosome number is constant for all species of monitor lizards (family Varanidae) with the currently reported karyotype, variability in the morphology of the macrochromosomes has been previously documented within the group. We uncovered highly differentiated ZZ/ZW sex microchromosomes with a heterochromatic W chromosome in the Komodo dragon. Sex chromosomes have so far only been described in a few species of varanids including V. varius, the sister species to Komodo dragon, whose W chromosome is notably larger than that of the Komodo dragon. Accumulations of several microsatellite sequences in the W chromosome have recently been detected in 3 species of monitor lizards; however, these accumulations are absent from the W chromosome of the Komodo dragon. In conclusion, although varanids are rather conservative in karyotypes, their W chromosomes exhibit substantial variability at the sequence level, adding further evidence that degenerated sex chromosomes may represent the most dynamic genome part.

  8. The parental origin correlates with the karyotype of human embryos developing from tripronuclear zygotes.

    Science.gov (United States)

    Joergensen, Mette Warming; Labouriau, Rodrigo; Hindkjaer, Johnny; Stougaard, Magnus; Kolevraa, Steen; Bolund, Lars; Agerholm, Inge Errebo; Sunde, Lone

    2015-03-01

    It has previously been suggested that embryos developing from intracytoplasmic sperm-injected (ICSI) zygotes with three pronuclei (3PN) are endowed with a mechanism for self-correction of triploidy to diploidy. 3PN are also observed in zygotes after conventional in vitro fertilization (IVF). The parental origin, however, differs between the two fertilization methods. Whereas the vast majority of 3PN IVF zygotes are of dispermic origin and thus more likely to have two centrioles, the 3PN ICSI zygotes are digynic in origin and therefore, more likely to have one centriole. In the present study, we examine whether the parental origin of 3PN embryos correlates with the karyotype. The karyotype of each nucleus was estimated using four sequential fluorescence in situ hybridizations-each with two probes-resulting in quantitative information of 8 different chromosomes. The karyotypes were then compared and correlated to the parental origin. 3PN ICSI embryos displayed a significantly larger and more coordinated reduction from the assumed initial 3 sets of chromosomes than 3PN IVF embryos. The differences in the parental origin-and hence the number of centrioles-between the 3PN IVF and the 3PN ICSI zygotes are likely to be the cause of the differences in karyotypes.

  9. Analyses of karyotypic characteristics and prognosis in pediatric acute myeloblastic leukemia

    Institute of Scientific and Technical Information of China (English)

    阮敏

    2012-01-01

    Objective Acute myeloblastic leukemia(AML) accounts for 15 to 25 percent of childhood acute leukemias. Cytogenetic information is important for diagnosis,classification and prognosis of AML. Our aim was to analyze the relationship between karyotypic characteristics and prognosis of childhood

  10. Computers and student learning: bivariate and multivariate evidence on the availability and use of computers at home and at school

    OpenAIRE

    Fuchs, Thomas; Wößmann, Ludger

    2004-01-01

    We estimate the relationship between students’ educational achievement and the availability and use of computers at home and at school in the international student-level PISA database. Bivariate analyses show a positive correlation between student achievement and the availability of computers both at home and at schools. However, once we control extensively for family background and school characteristics, the relationship gets negative for home computers and insignificant for school computer...

  11. Bivariate Extension of the Quadrature Method of Moments for Modeling Simultaneous Coagulation and Sintering of Particle Populations.

    Science.gov (United States)

    Wright, Douglas L.; McGraw, Robert; Rosner, Daniel E.

    2001-04-15

    We extendthe application of moment methods to multivariate suspended particle population problems-those for which size alone is insufficient to specify the state of a particle in the population. Specifically, a bivariate extension of the quadrature method of moments (QMOM) (R. McGraw, Aerosol Sci. Technol. 27, 255 (1997)) is presented for efficiently modeling the dynamics of a population of inorganic nanoparticles undergoing simultaneous coagulation and particle sintering. Continuum regime calculations are presented for the Koch-Friedlander-Tandon-Rosner model, which includes coagulation by Brownian diffusion (evaluated for particle fractal dimensions, D(f), in the range 1.8-3) and simultaneous sintering of the resulting aggregates (P. Tandon and D. E. Rosner, J. Colloid Interface Sci. 213, 273 (1999)). For evaluation purposes, and to demonstrate the computational efficiency of the bivariate QMOM, benchmark calculations are carried out using a high-resolution discrete method to evolve the particle distribution function n(nu, a) for short to intermediate times (where nu and a are particle volume and surface area, respectively). Time evolution of a selected set of 36 low-order mixed moments is obtained by integration of the full bivariate distribution and compared with the corresponding moments obtained directly using two different extensions of the QMOM. With the more extensive treatment, errors of less than 1% are obtained over substantial aerosol evolution, while requiring only a few minutes (rather than days) of CPU time. Longer time QMOM simulations lend support to the earlier finding of a self-preserving limit for the dimensionless joint (nu, a) particle distribution function under simultaneous coagulation and sintering (Tandon and Rosner, 1999; D. E. Rosner and S. Yu, AIChE J., 47 (2001)). We demonstrate that, even in the bivariate case, it is possible to use the QMOM to rapidly model the approach to asymptotic behavior, allowing an immediate assessment of

  12. Karyotype and cytogeography of the genus Heracleum (Apiaceae)in the Hengduan Mountains

    Institute of Scientific and Technical Information of China (English)

    Xian-Lan DENG; Xing-Jin HE; Wei-Lue HE; Yun-Dong GAO; Hai-Yan LIU; Yu-Cheng ZHANG

    2009-01-01

    In the present study, the karyotypes of 34 populations belonging to 11 species and one variety of Heracleum from the Hengduan Mountains in China were examined. Chromosome numbers and the karyotypes of three species (H. souliei, H. kingdoM, and H. wenchuanense) are reported for the first time, as are the karyotypes of H. moellendorffii and H. henryi (tetraploid). Populations of H. candicans, H. franchetii, and H. kingdoni in the Hengduan Mountains were found to consist of a mixture of diploid and tetraploid plants. Except for four species of Heracleum, namely H. candicans, H. franchetii, H. henryi, and H. kingdoni, which have both diploid and tetraploid karyotypes, all other species of Heracleum are were found to be diploid. All karyotypes were found to belong to the 2A type of Stebbins, with the exception ofH. candicans var. obtusifolium, which belongs to 2B, and H. hemsleyanum and H.franchetii (Mt. Dujuan, Daocheng, Sichuan, China), which belong to 1A. There was only a slight difference in the karyotype asymmetry index, which suggests a close kinship for species of Heracleum and that the entire phylogenetic development of Heracleum is relatively primitive. Species that exhibited advanced morphological features were also more advanced in karyotype structure, with the order ofkaryotype evolution being 1A→2A→2B. This phenomenon indicates that the species distributed in the Hengduan Mountains have not diverged completely and that the Hengduan Mountains are a relatively young and active area for the evolution ofHeracleum. Polyploidization in Heracleum may be an important evolutionary mechanisms for some species, generating diversity. The biological attributes, distribution range, and the geological history of the genus have all played a part in accelerating the evolution through polyploidization or aneuploidization. It is known that as the distribution latitude of Heracleum decreases from north to south, the chromosome number, ploidy level, and asymmetry structure

  13. Comparing Johnson’s SBB, Weibull and Logit-Logistic bivariate distributions for modeling tree diameters and heights using copulas

    Directory of Open Access Journals (Sweden)

    Jose Javier Gorgoso-Varela

    2016-04-01

    Full Text Available Aim of study: In this study we compare the accuracy of three bivariate distributions: Johnson’s SBB, Weibull-2P and LL-2P functions for characterizing the joint distribution of tree diameters and heights.Area of study: North-West of Spain.Material and methods: Diameter and height measurements of 128 plots of pure and even-aged Tasmanian blue gum (Eucalyptus globulus Labill. stands located in the North-west of Spain were considered in the present study. The SBB bivariate distribution was obtained from SB marginal distributions using a Normal Copula based on a four-parameter logistic transformation. The Plackett Copula was used to obtain the bivariate models from the Weibull and Logit-logistic univariate marginal distributions. The negative logarithm of the maximum likelihood function was used to compare the results and the Wilcoxon signed-rank test was used to compare the related samples of these logarithms calculated for each sample plot and each distribution.Main results: The best results were obtained by using the Plackett copula and the best marginal distribution was the Logit-logistic.Research highlights: The copulas used in this study have shown a good performance for modeling the joint distribution of tree diameters and heights. They could be easily extended for modelling multivariate distributions involving other tree variables, such as tree volume or biomass.

  14. Bivariate genome-wide association study suggests that the DARC gene influences lean body mass and age at menarche.

    Science.gov (United States)

    Hai, Rong; Zhang, Lei; Pei, Yufang; Zhao, Lanjuan; Ran, Shu; Han, Yingying; Zhu, Xuezhen; Shen, Hui; Tian, Qing; Deng, Hongwen

    2012-06-01

    Lean body mass (LBM) and age at menarche (AAM) are two important complex traits for human health. The aim of this study was to identify pleiotropic genes for both traits using a powerful bivariate genome-wide association study (GWAS). Two studies, a discovery study and a replication study, were performed. In the discovery study, 909622 single nucleotide polymorphisms (SNPs) were genotyped in 801 unrelated female Han Chinese subjects using the Affymetrix human genome-wide SNP array 6.0 platform. Then, a bivariate GWAS was performed to identify the SNPs that may be important for LBM and AAM. In the replication study, significant findings from the discovery study were validated in 1692 unrelated Caucasian female subjects. One SNP rs3027009 that was bivariately associated with left arm lean mass and AAM in the discovery samples (P=7.26×10(-6)) and in the replication samples (P=0.005) was identified. The SNP is located at the upstream of DARC (Duffy antigen receptor for chemokines) gene, suggesting that DARC may play an important role in regulating the metabolisms of both LBM and AAM.

  15. A new formula for bivariate Hermite interpolation on variable step grids and its application to image interpolation.

    Science.gov (United States)

    Delibasis, Konstantinos K; Kechriniotis, Aristides

    2014-07-01

    In this paper, we present a novel formula of the bivariate Hermite interpolating (BHI) polynomial in the case of support points arranged on a grid with variable step. This expression is applicable when interpolation of a bivariate function is required, given its value and the values of its partial derivatives of arbitrarily high order, at the support points. The proposed formula is a generalization of an existing formula for the bivariate Hermite polynomial. It is also algebraically much simpler, thus can be computed more efficiently. In order to apply Hermite interpolation to image interpolation, we simplify the proposed (BHI) to handle support points on a regular unit-step grid. The values of image partial derivatives are arithmetically approximated using compact finite differences. The proposed method is being assessed in a number of image interpolation experiments that include a synthetic image, for which the values of the partial derivatives are computed analytically, as well as a collection of images from different medical modalities. The proposed BHI with up to second-order image partial derivatives, outperforms the convolution-based interpolation methods, as well as generalized interpolation methods with the same number of support points that was compared with, in the majority of image interpolation experiments. The computational load of the proposed BHI is calculated and its behaviour with respect to its controlling parameters is investigated.

  16. Meta-analysis for diagnostic accuracy studies: a new statistical model using beta-binomial distributions and bivariate copulas.

    Science.gov (United States)

    Kuss, Oliver; Hoyer, Annika; Solms, Alexander

    2014-01-15

    There are still challenges when meta-analyzing data from studies on diagnostic accuracy. This is mainly due to the bivariate nature of the response where information on sensitivity and specificity must be summarized while accounting for their correlation within a single trial. In this paper, we propose a new statistical model for the meta-analysis for diagnostic accuracy studies. This model uses beta-binomial distributions for the marginal numbers of true positives and true negatives and links these margins by a bivariate copula distribution. The new model comes with all the features of the current standard model, a bivariate logistic regression model with random effects, but has the additional advantages of a closed likelihood function and a larger flexibility for the correlation structure of sensitivity and specificity. In a simulation study, which compares three copula models and two implementations of the standard model, the Plackett and the Gauss copula do rarely perform worse but frequently better than the standard model. We use an example from a meta-analysis to judge the diagnostic accuracy of telomerase (a urinary tumor marker) for the diagnosis of primary bladder cancer for illustration.

  17. Karyotype analysis of mithun (Bos frontalis) and mithun bull x Brahman cow hybrids.

    Science.gov (United States)

    Qu, K-X; He, Z-X; Nie, W-H; Zhang, J-C; Jin, X-D; Yang, G-R; Yuan, X-P; Huang, B-Z; Zhang, Y-P; Zan, L-S

    2012-01-19

    We examined the cytogenetics of mithun (Bos frontalis), a domesticated version of the Asian gaur, and hybrids (F(1) generation) produced by artificial insemination of Brahman cows (Bos indicus) with mithun semen. Reproductive potential was also examined in the F(1) generation and a backcrossed heifer for utilization of heterosis. Metaphase chromosome spreads were examined by conventional staining and fluorescence in situ hybridization hybridized with the entire chromosome 1 of mithun as a specific probe. Chromosome 1 of mithun was found to be equivalent to Bos taurus chromosomes 2 and 28. The karyotype of the female mithun (N = 4) comprised 58 chromosomes, including 54 acrocentric and four large submetacentric chromosomes, without the four acrocentric chromosomes found in the domesticated species B. indicus. However, one of the four female mithuns with a normal mithun phenotype had an abnormal karyotype (2n = 59), indicating introgression from B. taurus or B. indicus. The F(1) karyotypes (N = 6, 3♂3♀) of the mithun bull × Brahman cow cross had 2n = 59, intermediate between their parents; they were consistent heterozygous carriers with a centric fusion involving rob(2;28), as expected. Two pronounced red signals were seen in the mithun karyotypes, three red signals in the mithun × Brahman hybrids, and four red signals in the Brahman cattle, in good agreement with centric fusion of bovine rob(2;28). The female backcross hybrid (N = 1) with 2n = 59 had a similar chromosome configuration to the F(1) karyotypes and had rob(2;28). Such female backcross hybrids normally reproduce; however, the F(1) bulls (N = 3) had not yet generated normal sperm at 24 months.

  18. Karyotypic similarities between two species of Rhamphichthys (Rhamphichthyidae, Gymnotiformes) from the Amazon basin

    Science.gov (United States)

    da Silva, Patrícia Corrêa; Nagamachi, Cleusa Yoshiko; Silva, Danillo dos Santos; Milhomem, Susana Suely Rodrigues; Cardoso, Adauto Lima; de Oliveira, Jonas Alves; Pieczarka, Julio Cesar

    2013-01-01

    Abstract The family Rhamphichthyidae includes three genera: Rhamphichthys Müller et Troschel, 1846, Gymnorhamphichthys M. M. Ellis, 1912 and Iracema Triques, 1996. From this family, only the species Rhamphichthys hanni Meinken, 1937 has had its karyotype described. Here, we describe the karyotypes of two additional Rhamphichthys species: Rhamphichthys marmoratus Castelnau, 1855 from the Reserva de Desenvolvimento Sustentável Mamirauá, Amazonas state and Rhamphichthys prope rostratus Linnaeus, 1766 from Pará state, both in Brazil. Our karyotypic analyses demonstrated that the diploid number is conserved for the genus (2n = 50), but the karyotypic formulas (KFs) differed between Rhamphichthys marmoratus (44m/sm+6a) and Rhamphichthys prope rostratus (42m/sm+8a). In both species, the constitutive heterochromatin (CH) was located in the centromeric region of most chromosomes. Large heterochromatic blocks were found on the long arms of pairs 4 and 14 in Rhamphichthys marmoratus and on chromosomes 3, 4 and 19 in Rhamphichthys prope rostratus, which also has a heteromorphism in chromosome pair 1. The CH was DAPI positive, indicating that it is rich in AT base pairs. The Nucleolus Organizer Region (NOR) showed staining at a single location in both species: the long arm of pair 1 in Rhamphichthys marmoratus and the long arm of pair 12 in Rhamphichthys prope rostratus, where it showed a size heteromorphism. CMA3 staining coincided with that of Ag-NOR, indicating that the ribosomal genes contain interspaced GC-rich sequences. FISH with an 18S rDNA probe confirmed that there is only one NOR site in each species. These results can be used as potential cytogenetic markers for fish populations, and comparative analysis of the karyotypes of Hypopygus Hoedman, 1962, Rhamphichthys and Steatogenys Boulenger, 1898 suggests that the first two genera diverged later that the third. PMID:24455102

  19. Karyotypic similarities between two species of Rhamphichthys (Rhamphichthyidae, Gymnotiformes) from the Amazon basin.

    Science.gov (United States)

    da Silva, Patrícia Corrêa; Nagamachi, Cleusa Yoshiko; Silva, Danillo Dos Santos; Milhomem, Susana Suely Rodrigues; Cardoso, Adauto Lima; de Oliveira, Jonas Alves; Pieczarka, Julio Cesar

    2013-10-24

    The family Rhamphichthyidae includes three genera: Rhamphichthys Müller et Troschel, 1846, Gymnorhamphichthys M. M. Ellis, 1912 and Iracema Triques, 1996. From this family, only the species Rhamphichthys hanni Meinken, 1937 has had its karyotype described. Here, we describe the karyotypes of two additional Rhamphichthys species: Rhamphichthys marmoratus Castelnau, 1855 from the Reserva de Desenvolvimento Sustentável Mamirauá, Amazonas state and Rhamphichthys prope rostratus Linnaeus, 1766 from Pará state, both in Brazil. Our karyotypic analyses demonstrated that the diploid number is conserved for the genus (2n = 50), but the karyotypic formulas (KFs) differed between Rhamphichthys marmoratus (44m/sm+6a) and Rhamphichthys prope rostratus (42m/sm+8a). In both species, the constitutive heterochromatin (CH) was located in the centromeric region of most chromosomes. Large heterochromatic blocks were found on the long arms of pairs 4 and 14 in Rhamphichthys marmoratus and on chromosomes 3, 4 and 19 in Rhamphichthys prope rostratus, which also has a heteromorphism in chromosome pair 1. The CH was DAPI positive, indicating that it is rich in AT base pairs. The Nucleolus Organizer Region (NOR) showed staining at a single location in both species: the long arm of pair 1 in Rhamphichthys marmoratus and the long arm of pair 12 in Rhamphichthys prope rostratus, where it showed a size heteromorphism. CMA3 staining coincided with that of Ag-NOR, indicating that the ribosomal genes contain interspaced GC-rich sequences. FISH with an 18S rDNA probe confirmed that there is only one NOR site in each species. These results can be used as potential cytogenetic markers for fish populations, and comparative analysis of the karyotypes of Hypopygus Hoedman, 1962, Rhamphichthys and Steatogenys Boulenger, 1898 suggests that the first two genera diverged later that the third.

  20. The Relationship between Clinical Feature, Complex Immunophenotype, Chromosome Karyotype, and Outcome of Patients with Acute Myeloid Leukemia in China

    Directory of Open Access Journals (Sweden)

    Bingjie Ding

    2015-01-01

    Full Text Available Mixed phenotype acute leukemia (MPAL is a complex entity expressing both lymphoid and myeloid immunophenotyping. In the present study, 47 MPAL, 60 lymphoid antigen-positive acute myeloid leukemia (Ly+AML, and 90 acute myeloid leukemia with common myeloid immunophenotype (Ly−AML patients were investigated. We found that, in MPAL patients, there were high proportions of blast cells in bone marrow and incidence of hepatosplenomegaly, lymphadenopathy, and Philadelphia chromosome. The overall survival (OS and relapse-free survival (RFS in MPAL patients were significantly shorter than those in Ly+AML and Ly−AML. With regard to the patients with normal karyotype only, the OS and RFS of MPAL were significantly lower than those of the Ly+AML and Ly−AML; but there were no significant differences in OS and RFS among the patients with complex karyotype. The OS rates of 3 groups with complex karyotype were lower than those of patients with normal karyotype. In Cox multivariate analysis, complex karyotype was an independent pejorative factor for both OS and RFS. Therefore, MPAL is confirmed to be a poor-risk disease while Ly+AML does not impact prognosis. Complex karyotype is an unfavorable prognosis factor in AML patients with different immunophenotype. Mixed immunophenotype and complex karyotype increase the adverse risk when they coexist.

  1. Three new karyotypes extend a Robertsonian fan in Ethiopian spiny mice of the genus Acomys I. Geoffroy, 1838 (Mammalia, Rodentia).

    Science.gov (United States)

    Lavrenchenko, L A; Nadjafova, R S; Bulatova, N Sh

    2011-01-01

    Three new karyotypes (2n=40, 44, 52) are described revealing what are probably new cryptic species of Ethiopian spiny mice. Two other diploid numbers have already been reported for the country (2n=36 and 68) and, overall, the five known karyotypic forms constitute a common lineage differentiated by a Robertsonian process. Such arrays of karyotypic forms are known as a 'Robertsonian fan'. This view of the situation in Ethiopian Acomys I. Geoffroy, 1838 is based on standard chromosomal morphology that reveals a constant FN (68) and needs further investigation of chromosome homology by differential staining and/or molecular cytogenetic techniques as well as further molecular phylogenetic analysis.

  2. Chromosome Mis-segregation Generates Cell-Cycle-Arrested Cells with Complex Karyotypes that Are Eliminated by the Immune System.

    Science.gov (United States)

    Santaguida, Stefano; Richardson, Amelia; Iyer, Divya Ramalingam; M'Saad, Ons; Zasadil, Lauren; Knouse, Kristin A; Wong, Yao Liang; Rhind, Nicholas; Desai, Arshad; Amon, Angelika

    2017-06-19

    Aneuploidy, a state of karyotype imbalance, is a hallmark of cancer. Changes in chromosome copy number have been proposed to drive disease by modulating the dosage of cancer driver genes and by promoting cancer genome evolution. Given the potential of cells with abnormal karyotypes to become cancerous, do pathways that limit the prevalence of such cells exist? By investigating the immediate consequences of aneuploidy on cell physiology, we identified mechanisms that eliminate aneuploid cells. We find that chromosome mis-segregation leads to further genomic instability that ultimately causes cell-cycle arrest. We further show that cells with complex karyotypes exhibit features of senescence and produce pro-inflammatory signals that promote their clearance by the immune system. We propose that cells with abnormal karyotypes generate a signal for their own elimination that may serve as a means for cancer cell immunosurveillance. Copyright © 2017 Elsevier Inc. All rights reserved.

  3. Karyotypic characterization of Trachemys dorbigni (Testudines: Emydidae) and Chelonoidis (Geochelone) donosobarrosi (Testudines: Testudinidae), two species of Cryptodiran turtles from Argentina.

    Science.gov (United States)

    Martinez, Pablo A; Boeris, Juan M; Sánchez, Julieta; Pastori, María C; Bolzán, Alejandro D; Ledesma, Mario A

    2009-12-01

    We describe for the first time the karyotypes of two species of Cryptodiran turtles from Argentina, namely, Trachemys dorbigni (Emydidae) and Chelonoidis (Geochelone) donosobarrosi (Testudinidae). The karyotype of T. dorbigni (2n = 50) consists of 13 pairs of macrochromosomes and 12 pairs of microchromosomes, whereas the karyotype of C. donosobarrosi (2n = 52) consists of 11 pairs of macrochromosomes and 15 pairs of microchromosomes. Fluorescence in situ hybridization (FISH) with a (TTAGGG)n telomeric probe showed that the chromosomes of these species have four telomeric signals, two at each end, indicating that none of the chromosomes of T. dorbigni and C. donosobarrosi are telocentric. The fact that no interstitial telomeric signals were observed after FISH, suggests that interstitial telomeric sequences did not have a major role in the chromosomal evolution of these species. Additional data will be needed to elucidate if interstitial telomeric sequences have a major role in the karyotypic evolution of Testudines.

  4. Presence of Turner stigmata in a case of dysgenetic male pseudohermaphroditism with 45,X/46,X+mar karyotype.

    Science.gov (United States)

    Hashimoto, H; Maruyama, H; Koshida, R; Okuda, N; Murayama, K; Katsumi, T; Watanabe, K; Sato, T

    1997-03-01

    A case is reported of dysgenetic male pseudohermaphroditism (DMPH) having Turner stigmata and 45,X/46,X+mar karyotype. The marker chromosome of this patient consisted of most if not all of the short arm, including the sex determining region of the Y chromosome. Although this karyotype is relatively common in Turner's syndrome and occasionally observed in mixed gonadal dysgenesis, DMPH is usually exemplified by a 46,XY karyotype except for one patient reported with 45,X/46,XY mosaicism. Turner stigmata have not previously been reported in DMPH. The present patient is an intermediate case between mixed gonodal dysgenesis and typical DMPH, and this indicates that 45,X/ 46,X +mar karyotype abnormality can result in a wide range of phenotype such as DMPH, mixed gonodal dysgenesis and Turner's syndrome.

  5. Karyotypic differences and evolutionary tendencies of some species from the subgenus Obliquodesmus Mlad. of genus Scenedesmus Meyen (Chlorophyta, Chlorococcales)

    Indian Academy of Sciences (India)

    Balik Dzhambazov; Rumen Mladenov; Ivanka Teneva; Detelina Belkinova

    2006-04-01

    Karyotype structures of Scenedesmus acuminatus (Lagerch.) Chod. and Scenedesmus pectinatus Meyen are compared. The karyotype of S. acuminatus ($n = 5$) is described for the first time. It reveals four large metacentric and one large submetacentric chromosomes (4M + 1SM). The established karyotype differences have been helpful in clarifying the taxonomic position of these two species. The cytological analyses of other related clonal cultures suggest an evolutionary transition from S. pectinatus towards S. regularis through S. pectinatus f. regularis, which correlates with the morphological data about their variability. These results are discussed from the cytogenetic, morphological and evolutionary point of view. On the basis of the karyotypic analysis, it was confirmed that from a taxonomic point of view S. pectinatus, S. acuminatus and S. regularis are separate biological species.

  6. Donkey genome and insight into the imprinting of fast karyotype evolution.

    Science.gov (United States)

    Huang, Jinlong; Zhao, Yiping; Bai, Dongyi; Shiraigol, Wunierfu; Li, Bei; Yang, Lihua; Wu, Jing; Bao, Wuyundalai; Ren, Xiujuan; Jin, Burenqiqige; Zhao, Qinan; Li, Anaer; Bao, Sarula; Bao, Wuyingga; Xing, Zhencun; An, Aoruga; Gao, Yahan; Wei, Ruiyuan; Bao, Yirugeletu; Bao, Taoketao; Han, Haige; Bai, Haitang; Bao, Yanqing; Zhang, Yuhong; Daidiikhuu, Dorjsuren; Zhao, Wenjing; Liu, Shuyun; Ding, Jinmei; Ye, Weixing; Ding, Fangmei; Sun, Zikui; Shi, Yixiang; Zhang, Yan; Meng, He; Dugarjaviin, Manglai

    2015-09-16

    The donkey, like the horse, is a promising model for exploring karyotypic instability. We report the de novo whole-genome assemblies of the donkey and the Asiatic wild ass. Our results reflect the distinct characteristics of donkeys, including more effective energy metabolism and better immunity than horses. The donkey shows a steady demographic trajectory. We detected abundant satellite sequences in some inactive centromere regions but not in neocentromere regions, while ribosomal RNAs frequently emerged in neocentromere regions but not in the obsolete centromere regions. Expanded miRNA families and five newly discovered miRNA target genes involved in meiosis may be associated with fast karyotype evolution. APC/C, controlling sister chromatid segregation, cytokinesis, and the establishment of the G1 cell cycle phase were identified by analysis of miRNA targets and rapidly evolving genes.

  7. SKY detection of chromosome rearrangements in two cases of tMDS with a complex karyotype.

    Science.gov (United States)

    Cohen, Ninette; Trakhtenbrot, Luba; Yukla, Mona; Manor, Yosef; Gaber, Elena; Yosef, Gabi; Amariglio, Ninette; Rechavi, Gideon; Amiel, Aliza

    2002-10-15

    In this study, we used spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) as complementary techniques for the analysis of two therapy-related secondary myelodysplastic syndrome (t-MDS) cases with complex karyotypes, previously analyzed by G-banding. Different types of SKY's cytogenetic contributions include confirmation of G-banding results, identification of partially characterized rearrangements, identification of marker chromosomes unidentified by G-banding, and detection of cryptic reciprocal translocations. In particular, the ability of SKY to clarify a number of markers led to the comprehension of clonal evolution. The common aberration found in these two t-MDS cases was the fragility of chromosome 5 and monosomy of chromosome 18. We clearly present that the use of SKY combined with conventional G-banding analysis and FISH has assisted in the identification of important chromosomal events that may play a key role in the development of t-MDS.

  8. A comparative study of the karyotypes of Tilapia rendalli, T. sparrmanii and Oreochromis mossambicus (Cichlidae

    Directory of Open Access Journals (Sweden)

    A. Swanepoel

    1992-07-01

    Full Text Available Optimal chromosome preparations were obtained from stimulated lymphocyte cultures with a new method based on a combination and modification of several techniques. Tilapia rendalli, T. sparrmanii and Oreochromis mossambicus have somatic chromosome numbers of 44, 42 and 44, respectively. Chromosome pairs L1 and L2 are easily identified in all the karyotypes and distinctive of the tilapias. Tilapia sparrmanii has one additional large metacentric chromosome pair(L3, which occurs concurrently with the reduction of two in the total chromosome number. The F chromosomes were divided into two groups, viz a submetacentric (sm and a telocentric (t group. T. rendalli has 8 sm chromosomes, while both T. sparrmanii and O. mossambicus have 6 chromosomes in the sm group. The rest of the F chromosomes were telocentric. The identification of the sex chromosomes in the karyotypes of tilapia has thus far not been possible using standard techniques.

  9. M-FISH Karyotyping - A New Approach Based on Watershed Transform

    CERN Document Server

    Sreejini, K S; Govindan, V K

    2012-01-01

    Karyotyping is a process in which chromosomes in a dividing cell are properly stained, identified and displayed in a standard format, which helps geneticist to study and diagnose genetic factors behind various genetic diseases and for studying cancer. M-FISH (Multiplex Fluorescent In-Situ Hybridization) provides color karyotyping. In this paper, an automated method for M-FISH chromosome segmentation based on watershed transform followed by naive Bayes classification of each region using the features, mean and standard deviation, is presented. Also, a post processing step is added to re-classify the small chromosome segments to the neighboring larger segment for reducing the chances of misclassification. The approach provided improved accuracy when compared to the pixel-by-pixel approach. The approach was tested on 40 images from the dataset and achieved an accuracy of 84.21 %.

  10. A new karyotype for the spiny rat Clyomys laticeps (Thomas, 1909 (Rodentia, Echimyidae from Central Brazil

    Directory of Open Access Journals (Sweden)

    Alexandra M. R. Bezerra

    2012-04-01

    Full Text Available Clyomys Thomas, 1916 is a semifossorial rodent genus of spiny rats represented by only one species, C. laticeps, which inhabits the tropical savannas and grasslands of central Brazil and eastern Paraguay. Here we describe a new karyotype of C. laticeps found in populations of Emas National Park, Goiás state, Brazil. The four analyzed specimens had a diploid number (2n of 32 and a fundamental autosome number (FN of 54. Cytogenetic data include conventional staining, CBG and GTG-banding. The karyotype presents 12 meta/submetacentric pairs (1 to 12 and 3 pairs of acrocentrics (13 to 15 with gradual decrease in size. The X chromosome is a medium submetacentric and the Y is a medium acrocentric. The semifossorial habits together with habitat specificity could have contributed to the karyological variations found on this genus.

  11. The First Reported Case of Meckel-Gruber Syndrome Associated With Abnormal Karyotype Mosaic Trisomy 17.

    Science.gov (United States)

    Cierna, Zuzana; Janega, Pavol; Grochal, Frantisek; Ferianec, Vladimir; Braxatorisova, Tatiana; Strieskova, Lucia; Malova, Jana; Jungova, Petra; Szemes, Tomas

    2017-01-01

    Meckel-Gruber syndrome (MKS) is a rare lethal autosomal recessive disorder with typical anomalies including encephalocele, multicystic renal dysplasia, congenital liver fibrosis, and polydactyly. MKS is caused by mutations of genes localized on different chromosomes. Karyotypes of published Meckel-Gruber syndrome cases are without any aberrations. We present a male fetus with meningoencephalocele, multicystic renal dysplasia, congenital liver fibrosis, and other anomalies. Standard cytogenetic examination of cultured fetal skin and muscle fibroblasts showed mosaic trisomy 17. Homozygous deletion in CC2D2A gene was found by Sanger sequencing. This is to our knowledge the first case of genetically confirmed Meckel-Gruber syndrome with incidental cofinding of mosaic trisomy 17. Abnormal karyotype does not exclude diagnosis of MKS with risk of recurrence 25% in next pregnancy. In the case of anomalies typical for Meckel-Gruber syndrome, genetic analysis is indicated.

  12. Bivariate hydrologic risk analysis based on a coupled entropy-copula method for the Xiangxi River in the Three Gorges Reservoir area, China

    Science.gov (United States)

    Fan, Y. R.; Huang, W. W.; Huang, G. H.; Huang, K.; Li, Y. P.; Kong, X. M.

    2016-07-01

    In this study, a bivariate hydrologic risk framework is proposed based on a coupled entropy-copula method. In the proposed risk analysis framework, bivariate flood frequency would be analyzed for different flood variable pairs (i.e., flood peak-volume, flood peak-duration, flood volume-duration). The marginal distributions of flood peak, volume, and duration are quantified through both parametric (i.e., gamma, general extreme value (GEV), and lognormal distributions) and nonparametric (i.e., entropy) approaches. The joint probabilities of flood peak-volume, peak-duration, and volume-duration are established through copulas. The bivariate hydrologic risk is then derived based on the joint return period to reflect the interactive effects of flood variables on the final hydrologic risk values. The proposed method is applied to the risk analysis for the Xiangxi River in the Three Gorges Reservoir area, China. The results indicate the entropy method performs best in quantifying the distribution of flood duration. Bivariate hydrologic risk would then be generated to characterize the impacts of flood volume and duration on the occurrence of a flood. The results suggest that the bivariate risk for flood peak-volume would not decrease significantly for the flood volume less than 1000 m3/s. Moreover, a flood in the Xiangxi River may last at least 5 days without significant decrease of the bivariate risk for flood peak-duration.

  13. Powerful bivariate genome-wide association analyses suggest the SOX6 gene influencing both obesity and osteoporosis phenotypes in males.

    Directory of Open Access Journals (Sweden)

    Yao-Zhong Liu

    Full Text Available BACKGROUND: Current genome-wide association studies (GWAS are normally implemented in a univariate framework and analyze different phenotypes in isolation. This univariate approach ignores the potential genetic correlation between important disease traits. Hence this approach is difficult to detect pleiotropic genes, which may exist for obesity and osteoporosis, two common diseases of major public health importance that are closely correlated genetically. PRINCIPAL FINDINGS: To identify such pleiotropic genes and the key mechanistic links between the two diseases, we here performed the first bivariate GWAS of obesity and osteoporosis. We searched for genes underlying co-variation of the obesity phenotype, body mass index (BMI, with the osteoporosis risk phenotype, hip bone mineral density (BMD, scanning approximately 380,000 SNPs in 1,000 unrelated homogeneous Caucasians, including 499 males and 501 females. We identified in the male subjects two SNPs in intron 1 of the SOX6 (SRY-box 6 gene, rs297325 and rs4756846, which were bivariately associated with both BMI and hip BMD, achieving p values of 6.82x10(-7 and 1.47x10(-6, respectively. The two SNPs ranked at the top in significance for bivariate association with BMI and hip BMD in the male subjects among all the approximately 380,000 SNPs examined genome-wide. The two SNPs were replicated in a Framingham Heart Study (FHS cohort containing 3,355 Caucasians (1,370 males and 1,985 females from 975 families. In the FHS male subjects, the two SNPs achieved p values of 0.03 and 0.02, respectively, for bivariate association with BMI and femoral neck BMD. Interestingly, SOX6 was previously found to be essential to both cartilage formation/chondrogenesis and obesity-related insulin resistance, suggesting the gene's dual role in both bone and fat. CONCLUSIONS: Our findings, together with the prior biological evidence, suggest the SOX6 gene's importance in co-regulation of obesity and osteoporosis.

  14. Acute myeloid leukemia in a patient with constitutional 47,XXY karyotype

    Directory of Open Access Journals (Sweden)

    Marla M. Jalbut

    2015-01-01

    Full Text Available Klinefelter syndrome (KS, a 47,XXY chromosomal abnormality, has been shown to be associated with a number of malignancies, but has not been linked to acute leukemias to date. We present a case of a 54-year-old male diagnosed with acute myeloid leukemia (AML with monocytic differentiation, whose cytogenetic and subsequent FISH analyses revealed a constitutional 47,XXY karyotype. We also review and discuss relevant prior literature.

  15. Recidivous offence in sadistic homosexual pedophile with karyotype 48, XXXY after testicular pulpectomy. A case report.

    Science.gov (United States)

    Lachman, M; Brzek, A; Mellan, J; Hampl, R; Starka, L; Motlik, K

    1991-01-01

    The case of recidivous sexual offender with genetically caused mental retardation and primary hypogonadism (Klinefelter's syndrome with karyotype 48, XXXY) is described. He was examined after sadistic abuse of a boy aged 13 that he had committed 19 years after performed testicular pulpectomy. Plasmatic level of testosterone was found 4x higher than mean level in men after orchidectomy. Histological examination of residual scrotal tissues proved that the source of androgens were hyperplastic nodules of extratesticular Leydig cells.

  16. Multidirectional cross-species painting illuminates the history of karyotypic evolution in Perissodactyla

    OpenAIRE

    Trifonov, V. A.; Stanyon, R.; Nesterenko, A. I.; Fu, B. Y.; Perelman, P. L.; O'Brien, P C M; Stone, G.; Rubtsova, N. V.; Houck, M. L.; Robinson, T. J.; Ferguson Smith, M.A.; Dobigny, Gauthier; Graphodatsky, A S; Yang, F. T.

    2008-01-01

    The order Perissodactyla, the group of odd-toed ungulates, includes three extant families: Equidae, Tapiridae, and Rhinocerotidae. The extremely rapid karyotypic diversification in perissodactyls has so far prevented the establishment of genome-wide homology maps between these three families by traditional cytogenetic approaches. Here we report the first genome-wide comparative chromosome maps of African rhinoceroses, four tapir species, four equine species, and humans. These maps were establ...

  17. Monosomal karyotype among adult acute myeloid leukemia: clinical characteristic and prognostic analysis

    Institute of Scientific and Technical Information of China (English)

    冯茹

    2014-01-01

    Objective To explore the clinical characteristics and prognostic value of monosomal karyotype(MK)patients in adult acute myeloid leukemia(AML).Methods We retrospectively studied 45 patients of MK+in newly-diagnosed adult AML in our center from Oct 2000 to Dec2012.Clinical characteristics,cytogenetic data and prognostic features were analyzed in the cohort of MK+patients.Results MK was found in 45 patients(19.0%)

  18. Monochorionic twins with the same blood karyotype of 46,XY/47,XYY but different phenotypes.

    Science.gov (United States)

    Wuttikonsammakit, Piyawadee; Tanawattanacharoen, Somchai; Uerpairojkit, Boonchai

    2010-02-01

    We report the case of a 13-year-old woman who was pregnant with phenotypically discordant monochorionic twins: one with cystic hygroma and hydrops, the other one normal. Fetal blood sampling was performed by intrahepatic blood collection for karyotyping of both fetuses, revealing the same genotype of 46,XY/47,XYY in 2:1 proportion. Phenotypic discordance in monozygotic twins can have various causes, such as placental vascular anatomy, differences in allocation of the number of blastomeres or genetic postzygotic events.

  19. Karyotyping, dermatoglyphic, and sweat pore analysis of five families affected with ectodermal dysplasia

    Directory of Open Access Journals (Sweden)

    Manpreet Sidhu

    2012-01-01

    Full Text Available Background: Hereditary ectodermal dysplasia is a genetic recessive trait characterized by hypohydrosis, hypotrichosis, and hypodontia. The affected individual show characteristic physiognomy like protruded forehead, depressed nasal bridge, periorbital wrinkling, protruded lips, etc. There is marked decrease in sweat and salivary secretion. Due to skin involvement palm and sole ridge patterns are disrupted. Aim: In this study an attempt has been made to classify the affected members according to the degree of penetrance by pedigree analysis and also study karyotyping for cytogenetics, dermatoglyphic analysis for the various ridge patterns and variations in the number of sweat glands by sweat pore analysis in affected individuals. Materials and Methods: A total of five families who were affected with ectodermal dysplasia were considered. Pedigree analysis was drawn up to three generation by obtaining history. Dermatoglyphics and sweat pore analysis was done by obtaining palm and finger print impression using stamp pad ink. Karyotyping was done by collecting 3-5 ml peripheral blood. Karyotyping was prepared using lymphocyte culture. Chromosomes were examined at 20 spreads selected randomly under Χ100 magnification. Results were analyzed by calculating mean values and percentage was obtained. Results: Karyotyping did not show any abnormalities, dermatoglyphic analysis and sweat pore counts showed marked variations when compared with normal. Moreover, pedigree analysis confirmed the status of the disease as that of the recessive trait. Conclusion: Large number of affected patients needs to be evaluated for dermatoglypic analysis. Genetic aspect of the disease needs to be looked into the molecular level in an attempt to locate the gene locus responsible for ectodermal dysplasia and its manifestation.

  20. Comparative karyotype analysis of populations in the Alstroemeria presliana Herbert (Alstroemeriaceae) complex in Chile.

    Science.gov (United States)

    Baeza, Carlos; Finot, Víctor L; Ruiz, Eduardo

    2015-05-01

    Alstroemeria L., one of the most diverse genera of the Chilean flora and of high floricultural value, is represented by 35 species, most of them distributed between 28-38° S in the Mediterranean zone of Central Chile. There are 24 complex-forming taxa, of which 18 have conservation problems (8 are considered "endangered" and 10 as "vulnerable"). One of these complexes is Alstroemeria presliana Herb. with two subspecies: subsp. presliana and subsp. australis Bayer. Alstroemeria presliana grows in Chile and Argentina: subsp. presliana is distributed from Reserva Nacional Siete Tazas (35°27' S, Region of Maule) to Antuco, (37°25' S, Region of Bío-Bío), and is also found in Neuquén, Argentina; subsp. australis is endemic to the Cordillera of Nahuelbuta. A comparative karyotype study was carried out among six populations of A. presliana subsp. presliana and five populations of A. presliana subsp. australis. The eleven populations presented an asymmetric karyotype, with 2n = 2× = 16 chromosomes but with different karyotype formulae. A. presliana subsp. presliana shows the haploid formula 2m + 2m-sat + 1sm-sat + 1st-sat + 1t + 1 t-sat, and A. preslianasubsp. australis presents a formula 1m + 2m-sat + 1sm + 2t + 2t-sat chromosomes. The architecture of the karyotype between the subspecies is very different. The scatter plot among CVCL vs. MCA shows different groupings between populations of the two subspecies. According to the results obtained it is possible to consider raising Alstroemeria presliana subsp. australis at species level.

  1. Comparative karyotype analysis of populations in the Alstroemeria presliana Herbert (Alstroemeriaceae complex in Chile

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    Carlos Baeza

    2015-06-01

    Full Text Available Alstroemeria L., one of the most diverse genera of the Chilean flora and of high floricultural value, is represented by 35 species, most of them distributed between 28–38° S in the Mediterranean zone of Central Chile. There are 24 complex-forming taxa, of which 18 have conservation problems (8 are considered “endangered” and 10 as “vulnerable”. One of these complexes is Alstroemeria presliana Herb. with two subspecies: subsp. presliana and subsp. australis Bayer. Alstroemeria presliana grows in Chile and Argentina: subsp. presliana is distributed from Reserva Nacional Siete Tazas (35°27′ S, Region of Maule to Antuco, (37°25′ S, Region of Bío-Bío, and is also found in Neuquén, Argentina; subsp. australis is endemic to the Cordillera of Nahuelbuta. A comparative karyotype study was carried out among six populations of A. presliana subsp. presliana and five populations of A. presliana subsp. australis. The eleven populations presented an asymmetric karyotype, with 2n = 2× = 16 chromosomes but with different karyotype formulae. A. presliana subsp. presliana shows the haploid formula 2m + 2m-sat + 1sm-sat + 1st-sat + 1t + 1 t-sat, and A. presliana subsp. australis presents a formula 1m + 2m-sat + 1sm + 2t + 2t-sat chromosomes. The architecture of the karyotype between the subspecies is very different. The scatter plot among CVCL vs. MCA shows different groupings between populations of the two subspecies. According to the results obtained it is possible to consider raising Alstroemeria presliana subsp. australis at species level.

  2. Karyotype variation in cultivars and spontaneous cocoa mutants (Theobroma cacao L.).

    Science.gov (United States)

    Figueiredo, G S F; Melo, C A F; Souza, M M; Araújo, I S; Zaidan, H A; Pires, J L; Ahnert, D

    2013-10-18

    Four mutant cocoa accessions with morphological changes and a cultivar sample were karyomorphologically characterized. Slides were prepared by enzymatic digestion of the root meristem and squashed in 45% acetic acid, followed by 2% Giemsa staining. The chromosome number of 2n = 20 was seen in all accessions. The karyotype formula for Cacau Comum and Cacau Rui was 2n = 20m. Submetacentric chromosomes were observed in Cacau Pucala and Cacau Jaca, both with 2n = 18m + 2sm, but the karyotype formula for Cacau Sem Vidro was 2n = 16m + 4sm. Satellites were located on the long arm of the 1st and 2nd chromosome pairs of Cacau Comum, whereas Cacau Pucala had satellites on the 6th chromosome pair. Greater karyotypic variation in Cacau Sem Vidro was found, whose 1st and 2nd chromosome pairs had satellites on the long arm and 6th and 10th pairs had satellites on the short arm. Analysis revealed a lower average chromosome length in Cacau Comum (1.53 ± 0.026 µm) and a higher length in Cacau Sem Vidro (2.26 ± 0.038 µm). ANOVA revealed significant difference (P < 0.01) for the average chromosome length and the length of chromosome pairs within and between accessions. The average chromosome lengths of mutants of Cacau Rui and Cacau Jaca were not statistically different by the Tukey test at 5% probability. The karyotypic diversity observed in this study is not necessarily associated with the changing character of the accessions analyzed, but may reflect the genetic variation observed in Theobroma cacao.

  3. A Case of Ullrich-Turner Syndrome with 45,X/46,XY Karyotype

    OpenAIRE

    Yüce, Hüseyin; AKIN, Haluk; ETEM, Ebru; DEVECİ, Şükriye DERYA

    2004-01-01

    The presence of mosaic 45,X/46,XY is a very rare chromosomal anomaly, with an incidence of about 1.5 per 10.000 in newborn infants and in midtrimester amniocentesis. The phenotype can vary from a normal male to a classical Ullrich-Turner syndrome (UTS). This patients are often infertile. The proposita presented at short stature, primary amenorrhea and hypoplasic uterus. Clinical examination revealed multiple Turner syndrome stigmata. Proposita karyotype was determined as 45,X/46,XY by cytogen...

  4. Karyotypic abnormalities and clinical aspects of patients with multiple myeloma and related paraproteinemic disorders

    Energy Technology Data Exchange (ETDEWEB)

    Liang, W.; Hopper, J.E.; Rowley, J.D.

    1979-08-01

    Karyotypic abnormalities were detected in the malignant cells of 6 of 18 patients with multiple myeloma (MM). Six patients with benign monoclonal gammopathy, one with amyloidosis of immunoglobulin origin, and two with Waldenstroem's macroglobulinemia had normal karyotypes. All six MM patients with aneuploidy were in a group of 10 patients in an accelerated or relapse phase of their disease and four had high serum paraprotein levels when their abnormal karyotypes were detected. Five of the 6 MM patients with aneuploidy had received prior chemotherapy. Aneuploidy was not observed in 8 stable MM patients. Abnormalities of chromosome 14 were present in all 6 patients. A translocation between Nos. 11 and 14 was found in aneuploid cells of 2 patients who had plasma cell leukemia (PCL). A deletion of chromosome 6 was detected in 2 MM patients and a pericentric inversion of No. 6 was seen in the patient with PCL. Three of 4 MM patients had a nonrandom loss of one chromosome 8. Two other MM patients developed acute nonlymphocytic leukemia (ANLL) after the diagnosis of MM. Marrow cells of one patient showed a 5q- chromosome and a constitutional translocation involving Nos. 13 and 14 during the preleukemic stage; during the leukemic phase, the karyotype evolved to 50 chromosomes including extra chromosomes 1, 6, 8, 10, and 21 and a missing 7, in addition to the originally detected 5q- and the 13/14 translocation.The peripheral blood from the other patient was hypodiploid, with a missing chromosome 7 and a translocation between 3q and 9p. These patterns of chromosome change resemble those of ANLL rather than MM and are similar to the changes seen in ANLL after treated malignant lymphoma.

  5. Analysis of horse genomes provides insight into the diversification and adaptive evolution of karyotype

    OpenAIRE

    Huang, Jinlong; Zhao, Yiping; Shiraigol, Wunierfu; Li, Bei; Bai, Dongyi; Ye, Weixing; Daidiikhuu, Dorjsuren; Yang, Lihua; Jin, Burenqiqige; Zhao, Qinan; Gao, Yahan; Wu, Jing; Bao, Wuyundalai; Li, Anaer; Zhang, Yuhong

    2014-01-01

    Karyotypic diversification is more prominent in Equus species than in other mammals. Here, using next generation sequencing technology, we generated and de novo assembled quality genomes sequences for a male wild horse (Przewalski's horse) and a male domestic horse (Mongolian horse), with about 93-fold and 91-fold coverage, respectively. Portion of Y chromosome from wild horse assemblies (3 M bp) and Mongolian horse (2 M bp) were also sequenced and de novo assembled. We confirmed a Robertsoni...

  6. Karyotype Patterns of Hypsolebias antenori (Cyprinodontiformes: Rivulidae: An Endangered Killifish of the Semiarid Region of Brazil

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    Wallace Silva do Nascimento

    2014-01-01

    Full Text Available Annual fish which belong to the order Cyprinodontiformes constitute an excellent model for evolutionary studies. their short life cycle, distribution in ecologically dynamic environments, and low agility make them favorable for genetic analyses. The species Hypsolebias antenori (Rivulidae, encountered in seasonal pools located in the semiarid region of Northeastern Brazil, has been the object of surveys with a view to study its ecological and behavioral aspects. This study reports on the karyotype patterns of this species, which represents the first contribution to the cytogenetics of this genus. The karyotype of this species is composed of 2n = 48 chromosomes (6m + 4sm + 36st; NF = 96; the heterochromatic regions are located in centromeric or pericentromeric position and are more pronounced in the nucleolar organizer regions. Two sites Ag-NORs/CMA+/DAPI were identified in the short arms of pairs 2 (metacentric and 21 (subtelocentric. Unlike the other species of this family which show an evolution modulated by events of centric fusions, H. antenori shows the maintenance of a basal diploid number and the large number of bibrachial elements indicates karyotypic diversification derived by pericentric inversions. Cytogenetic analyzes in this species will provide new taxonomic markers capable of being utilized in conservation issues and systematics.

  7. Cytotaxonomy of the Ciconiiformes (Aves), with karyotypes of eight species new to cytology.

    Science.gov (United States)

    de Boer, L E; van Brink, J M

    1982-01-01

    Somatic karyotypes of 13 species of ciconiiform birds, Phoenicopterus ruber chilensis, Phoeniconaias minor, Cochlearius cochlearius, Geronticus eremita, Threskiornis molucca, T. spinicollis, Balaeniceps rex, Ciconia ciconia, C. nigra, Euxenura maguari, Xenorhynchus asiaticus, Ephippiorhynchus senegalensis, and Leptoptilos crumeniferus are presented. The chromosomes of eight of these species are described in detail for the first time. Of special interest are a case of structural heterozygosity in a male B. rex and remarkably low diploid numbers in C. nigra (2n = ca 52) and L. crumeniferus (2n = ca 52). The karyological relationships of the ciconiiform families are discussed. The karyotypes of the Phoenicopteridae are identical to karyotypes found in various other bird orders. All members of the Ardeidae hitherto studied are characterized by a submetacentric third pair of macrochromosomes (subtelocentric in all other Ciconiiformes). All Threskiornithidae share a pair of acrocentric chromosomes resulting from a reciprocal translocation between a pair of microchromosomes and pair No. 1. Both the Ciconiidae and the Balaenicipitidae show the original structure of Nos. 1, 2 and 3, also found in the Phoenicopteridae and many other birds. In contrast to the Phoenicopteridae, however, both families share a relatively high number of medium-sized to small biarmed chromosomes with the Ardeidae and the Threskiornithidae. Several characteristics in this group of chromosomes separate Balaenicipitidae from Ciconiidae.

  8. Morphological and karyotypic differences within and among populations of Radopholus similis

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    Chunling Xu

    2014-10-01

    Full Text Available Twenty populations of Radopholus similis from three countries and different hosts (19 populations from ornamental plants and one population from ginger were compared using morphological characters, morphometrics and karyotype between progeny from both single females and 30 females of each population. Morphological diversity existed in and among the populations, even within the progeny nematodes from single nematodes compared to that of 30 females. The labial disc shape, the number of head annuli, the terminated position of lateral lips, the number of genital papillae before cloacal apertures and female and male tail terminal shape showed variation. In addition, genital papillae arranged in a double row before cloacal apertures was first found in two ornamental populations. The karyotype of all the 20 populations was n = 5. Combining our results and previous studies, we support that R. citrophilus is a synonym of R. similis, and that it is not possible to distinguish physiological races or pathotypes of R. similis according to morphological characters or karyotype.

  9. Molecular karyotype analysis and mapping of housekeeping genes to chromosomes of selected species complexes of Leishmania

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    Celso Cruz Tavares

    1992-12-01

    Full Text Available The molecular karyotypes for 20 reference strais of species complexes of Leishmania were determined by contour-clamped homogeneous eletric field (CHEF electrosphoresis. Determination of number/position of chromosome-sized bands and chromosomal DNA locations of house-keeping genes were the two criteria used for differentiating and classifying the Leishmania species. We have established two gel running conditions of optimal separation of chromosomes, wich resolved DNA molecules as large as 2,500 kilobase pairs (kb. Chromosomes were polymorphic in number (22-30 and size (200-2,500 kb of bands among members of five complexes of Leishmania. Although each stock had a distinct karyotype, in general the differences found between strains and/or species within each complex were not clear enough for parasite identification. However, each group showed a specific number of size-concordant DNA molecules, wich allowed distinction among the Leishmania complex parasites. Clear differences between the Old and New world groups of parasites or among some New World Leishmania species were also apparent in relation to the chromosome locations of beta-tubulin genes. Based on these results as well as data from other published studies the potencial of using DNA karyotype for identifying and classifying leishmanial field isolates is discussed.

  10. Clinical spectrum of neural tube defects with special reference to karyotyping study

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    Vijayendra Kumar

    2012-01-01

    Full Text Available Background: Neural tube defects are common congenital malformations of the central nervous system. Despite years of intensive epidemiological, clinical, and experimental research, the exact etiology of NTD remains rather complex and poorly understood. The present study attempted to look into the association of occurrence of NTD with reference to folic acid levels, along with karyotyping status. Materials and Methods: Detailed history was taken with emphasis on age of the baby and mother, parity, antenatal folic acid intake. Five milliliters of blood was drawn from all the babies and their mothers and divided equally in preheparinized vials (for karyotyping and plain vials (for folic acid estimation. The total duration was 2 years. Results: The total number (n in the study group was 75. The folic acid level was less in affected babies and their mother when compared to matched controls. Chromosomal defect was observed in nine of the 75 patients. Karyotyping defects were higher in children born to mothers of the age group 31-40 years and when their birth order was second. Conclusion: Folic acid supplementation needs to be continued to prevent the occurrence of NTD, and the perinatal identification of NTD should alert one to the possibility of chromosomal abnormalities and prompt a thorough cytogenetic investigation and genetic counseling.

  11. Karyotypes, heterochromatin, and physical mapping of 18S-26S rDNA in Cactaceae.

    Science.gov (United States)

    Las Peñas, M L; Urdampilleta, J D; Bernardello, G; Forni-Martins, E R

    2009-01-01

    Karyotype analyses in members of the four Cactaceae subfamilies were performed. Numbers and karyotype formula obtained were: Pereskioideae = Pereskiaaculeata(2n = 22; 10 m + 1 sm), Maihuenioideae = Maihuenia patagonica (2n = 22, 9 m + 2 sm; 2n = 44, 18 m + 4 sm), Opuntioideae = Cumulopuntia recurvata(2n = 44; 20 m + 2 sm), Cactoideae = Acanthocalycium spiniflorum (2n = 22; 10 m + 1 sm),Echinopsis tubiflora (2n = 22; 10 m + 1 sm), Trichocereus candicans (2n = 22, 22 m). Chromosomes were small, the average chromosome length was 2.3 mum. Diploid species and the tetraploid C. recurvata had one terminal satellite, whereas the remaining tetraploid species showed four satellited chromosomes. Karyotypes were symmetrical. No CMA(-)/DAPI(+) bands were detected, but CMA(+)/DAPI(-) bands associated with NOR were always found. Pericentromeric heterochromatin was found in C. recurvata, A. spiniflorum, and the tetraploid cytotype of M. patagonica. The locations of the 18S-26S rDNA sites in all species coincided with CMA(+)/DAPI(-) bands; the same occurred with the sizes and numbers of signals for each species. This technique was applied for the first time in metaphase chromosomes in cacti. NOR-bearing pair no.1 may be homeologous in all species examined. In Cactaceae, the 18S-26S loci seem to be highly conserved.

  12. Karyotype morphology and evolution in some Lathyrus (Fabaceae species of southern Brazil

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    Klamt Adriane

    2000-01-01

    Full Text Available The karyotypes of Lathyrus nervosus Lam., L. pubescens Hook. et Arn., L. paranensis Burk. and L. crassipes Gill ap. Hook et Arn., native to Rio Grande do Sul (southern Brazil, are described in detail for the first time. All taxa have 2n = 14 chromosomes. The karyotypic formulae were 2 m + 12 sm for L. nervosus, L. pubescens and L. paranensis and 4 m + 10 sm for L. crassipes. In all species, the smallest chromosome pair bore a secondary constriction with a satellite in the long arm. Intraspecific variability in the position and number of secondary constrictions was observed in L. nervosus and L. pubescens. All of the species had a conservative and similar karyotype morphology, but differed in total complement size by as much as 20% between the highest (L. nervosus and lowest (L. crassipes values. These results suggest that changes in chromosome size during evolution have been similar for all the chromosomes of the complement. Together with data on the life cycle and mode of reproduction, these results also indicate that L. crassipes is a derived taxon, if an evolutionary trend towards a decrease in chromosome size is accepted.

  13. Bone Marrow and Karyotype Findings of Patients with Pancytopenia in Southern Iran

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    Akbar Safaei

    2014-07-01

    Full Text Available Background: Pancytopenia is a manifestation of a wide range of disorders. The main prognostic factor for predicting outcome and response to treatment is based on the underlying cause. To detect the root cause of this problem, depending on other accompanied signs or symptoms, the need for bone marrow examination and other advanced work ups is different at least at the practical level. This study focuses on the karyotype abnormality and to demonstrate the ability of this complimentary study in diagnosis and prognosis of such patients. Methods: In this cross sectional study, bone marrow aspiration samples of all patients with Pancytopenia underwent cytogenetic investigation on bone marrow aspiration. Gathered data were analyzed by SPSS software. Results: Among the 100 eligible patients, 67% revealed hypercellular, 19% had hypocellular and 13% had normocellular marrow. Most common causes of pancytopenia were myelodysplastic syndrome (MDS (33%, MDS vs. megaloblastic anemia (23% and acute leukemia (18%. Thirty one patients had karyotype abnormality in which majority (13 patients were diagnosed as MDS followed by 11 patients with acute leukemia. Conclusion: Beside bone marrow examination, there is a need for more supplementary studies like karyotyping to detect the exact cause of pancytopenia. It is concluded that cytogenetic study on bone marrow aspiration can be a complementary test in diagnosis of pancytopenic patients. However, there are also cases where diagnosis even with implementing bone marrow examination and cytogenetic analysis is not possible. Such patients require more clinical follow-up and investigation.

  14. Bone marrow and karyotype findings of patients with pancytopenia in southern iran.

    Science.gov (United States)

    Safaei, Akbar; Shokripour, Mansoureh; Omidifar, Navid

    2014-07-01

    Pancytopenia is a manifestation of a wide range of disorders. The main prognostic factor for predicting outcome and response to treatment is based on the underlying cause. To detect the root cause of this problem, depending on other accompanied signs or symptoms, the need for bone marrow examination and other advanced work ups is different at least at the practical level. This study focuses on the karyotype abnormality and to demonstrate the ability of this complimentary study in diagnosis and prognosis of such patients. In this cross sectional study, bone marrow aspiration samples of all patients with Pancytopenia underwent cytogenetic investigation on bone marrow aspiration. Gathered data were analyzed by SPSS software.  Among the 100 eligible patients, 67% revealed hypercellular, 19% had hypocellular and 13% had normocellular marrow. Most common causes of pancytopenia were myelodysplastic syndrome (MDS) (33%), MDS vs. megaloblastic anemia (23%) and acute leukemia (18%). Thirty one patients had karyotype abnormality in which majority (13 patients) were diagnosed as MDS followed by 11 patients with acute leukemia. Beside bone marrow examination, there is a need for more supplementary studies like karyotyping to detect the exact cause of pancytopenia. It is concluded that cytogenetic study on bone marrow aspiration can be a complementary test in diagnosis of pancytopenic patients. However, there are also cases where diagnosis even with implementing bone marrow examination and cytogenetic analysis is not possible. Such patients require more clinical follow-up and investigation.

  15. Mixed phenotype acute leukemia of T/myeloid type with a prominent cellular heterogeneity and unique karyotypic aberration 45,XY, dic(11;17).

    Science.gov (United States)

    Colovic, M; Colovic, N; Jankovic, G; Kraguljac Kurtovic, N; Vidovic, A; Djordjevic, V; Bogdanovic, A

    2012-06-01

    A 26-yr-old male patient with mixed phenotype acute leukemia of T/myeloid type with prominent leukemic cell heterogeneity, and the presence of a so far unreported karyotype aberration in this type of acute leukemia 45,XY, dic(11;17)(11qter→11p11.2::17p11.2→17qter) is presented. Flow immunocytometry was performed by direct multicolor immunofluorescent technique on bone marrow aspirates. Cytogenetic analyses were performed using G-banding method by direct preparation of unstimulated bone marrow cells and following 24 hours of culture in RPMI 1540 culture medium with 25% fetal calf serum at 37°C RESULTS: The flow immunocytometry of bone marrow nucleated cells revealed the existance of three distinct blast cell populations with overlapping immunophenotypes. Predominant blast cell population had an early myeloid phenotype and aberrant expression of CD7 antigen (HLA-DR(+), CD34(+), anti-MPO(+), CD117(+), CD33(+), CD13(+), CD7(+low), cyCD3(-), TdT(-)). The other two blast cell populations, smaller in cell diameter and less sizable in cell proportion, both shared the T-lymphoid features. The patient was treated with ADE protocol (etoposide, cytarabine and doxorubicine). A complete remission was achieved and lasted 5 months. A case of MPAL with complex biological features, 45,XY, dic(11;17)(11qter→11p11.2::17p11.2→17qter) karyotype and an aggressive, therapy-resistant clinical course, is presented. © 2011 Blackwell Publishing Ltd.

  16. Operator identities involving the bivariate Rogers-Szegö polynomials and their applications to the multiple q-series identities

    Science.gov (United States)

    Zhang, Zhizheng; Wang, Tianze

    2008-07-01

    In this paper, we first give several operator identities involving the bivariate Rogers-Szegö polynomials. By applying the technique of parameter augmentation to the multiple q-binomial theorems given by Milne [S.C. Milne, Balanced summation theorems for U(n) basic hypergeometric series, AdvE Math. 131 (1997) 93-187], we obtain several new multiple q-series identities involving the bivariate Rogers-Szegö polynomials. These include multiple extensions of Mehler's formula and Rogers's formula. Our U(n+1) generalizations are quite natural as they are also a direct and immediate consequence of their (often classical) known one-variable cases and Milne's fundamental theorem for An or U(n+1) basic hypergeometric series in Theorem 1E49 of [S.C. Milne, An elementary proof of the Macdonald identities for , Adv. Math. 57 (1985) 34-70], as rewritten in Lemma 7.3 on p. 163 of [S.C. Milne, Balanced summation theorems for U(n) basic hypergeometric series, Adv. Math. 131 (1997) 93-187] or Corollary 4.4 on pp. 768-769 of [S.C. Milne, M. Schlosser, A new An extension of Ramanujan's summation with applications to multilateral An series, Rocky Mountain J. Math. 32 (2002) 759-792].

  17. Optical Coherence Tomography Noise Reduction Using Anisotropic Local Bivariate Gaussian Mixture Prior in 3D Complex Wavelet Domain

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    Hossein Rabbani

    2013-01-01

    Full Text Available In this paper, MMSE estimator is employed for noise-free 3D OCT data recovery in 3D complex wavelet domain. Since the proposed distribution for noise-free data plays a key role in the performance of MMSE estimator, a priori distribution for the pdf of noise-free 3D complex wavelet coefficients is proposed which is able to model the main statistical properties of wavelets. We model the coefficients with a mixture of two bivariate Gaussian pdfs with local parameters which are able to capture the heavy-tailed property and inter- and intrascale dependencies of coefficients. In addition, based on the special structure of OCT images, we use an anisotropic windowing procedure for local parameters estimation that results in visual quality improvement. On this base, several OCT despeckling algorithms are obtained based on using Gaussian/two-sided Rayleigh noise distribution and homomorphic/nonhomomorphic model. In order to evaluate the performance of the proposed algorithm, we use 156 selected ROIs from 650 × 512 × 128 OCT dataset in the presence of wet AMD pathology. Our simulations show that the best MMSE estimator using local bivariate mixture prior is for the nonhomomorphic model in the presence of Gaussian noise which results in an improvement of 7.8 ± 1.7 in CNR.

  18. An inquisition into bivariate threshold effects in the inflation-growth correlation: Evaluating South Africa’s macroeconomic objectives

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    Andrew Phiri

    2013-10-01

    Full Text Available Is the SARB’s inflation target of 3-6% compatible with the 6% economic growth objective set by ASGISA? Estimations of inflation-growth bivariate Threshold Vector Autoregressive with corresponding bivariate Threshold Vector Error Correction (BTVEC-BTVAR econometric models for sub-periods coupled with the South African inflation-growth experience between 1960 and 2010; suggest on optimal inflation-growth combinations for South African data presenting a two-fold proposition. Firstly, for the performance of economic growth to improve so it coincides with the 6% target objective as defined by ASGISA, may require the sustainment of an inflation rate of below 3.08%. Secondly, given the current economic environment with inflation averages of above 3.08% and economic growth rates of below 5.58%, lower inflation rates are to be best pursued through the attainment of higher economic growth rates. Consequentially, the overall implication of the study offers support in favour of a lower, ‘close-to-zero’ inflation target as a means of ensuring improved macroeconomic performance within the economy, while simultaneously contending that it would prove beneficial for stabilization economic policies to be devised such that these low levels of inflation are attained through higher economic growth rates.

  19. Collective estimation of multiple bivariate density functions with application to angular-sampling-based protein loop modeling

    KAUST Repository

    Maadooliat, Mehdi

    2015-10-21

    This paper develops a method for simultaneous estimation of density functions for a collection of populations of protein backbone angle pairs using a data-driven, shared basis that is constructed by bivariate spline functions defined on a triangulation of the bivariate domain. The circular nature of angular data is taken into account by imposing appropriate smoothness constraints across boundaries of the triangles. Maximum penalized likelihood is used to fit the model and an alternating blockwise Newton-type algorithm is developed for computation. A simulation study shows that the collective estimation approach is statistically more efficient than estimating the densities individually. The proposed method was used to estimate neighbor-dependent distributions of protein backbone dihedral angles (i.e., Ramachandran distributions). The estimated distributions were applied to protein loop modeling, one of the most challenging open problems in protein structure prediction, by feeding them into an angular-sampling-based loop structure prediction framework. Our estimated distributions compared favorably to the Ramachandran distributions estimated by fitting a hierarchical Dirichlet process model; and in particular, our distributions showed significant improvements on the hard cases where existing methods do not work well.

  20. Body mass estimates of an exceptionally complete Stegosaurus (Ornithischia: Thyreophora): comparing volumetric and linear bivariate mass estimation methods.

    Science.gov (United States)

    Brassey, Charlotte A; Maidment, Susannah C R; Barrett, Paul M

    2015-03-01

    Body mass is a key biological variable, but difficult to assess from fossils. Various techniques exist for estimating body mass from skeletal parameters, but few studies have compared outputs from different methods. Here, we apply several mass estimation methods to an exceptionally complete skeleton of the dinosaur Stegosaurus. Applying a volumetric convex-hulling technique to a digital model of Stegosaurus, we estimate a mass of 1560 kg (95% prediction interval 1082-2256 kg) for this individual. By contrast, bivariate equations based on limb dimensions predict values between 2355 and 3751 kg and require implausible amounts of soft tissue and/or high body densities. When corrected for ontogenetic scaling, however, volumetric and linear equations are brought into close agreement. Our results raise concerns regarding the application of predictive equations to extinct taxa with no living analogues in terms of overall morphology and highlight the sensitivity of bivariate predictive equations to the ontogenetic status of the specimen. We emphasize the significance of rare, complete fossil skeletons in validating widely applied mass estimation equations based on incomplete skeletal material and stress the importance of accurately determining specimen age prior to further analyses.

  1. Bivariate mass-size relation as a function of morphology as determined by Galaxy Zoo 2 crowdsourced visual classifications

    Science.gov (United States)

    Beck, Melanie; Scarlata, Claudia; Fortson, Lucy; Willett, Kyle; Galloway, Melanie

    2016-01-01

    It is well known that the mass-size distribution evolves as a function of cosmic time and that this evolution is different between passive and star-forming galaxy populations. However, the devil is in the details and the precise evolution is still a matter of debate since this requires careful comparison between similar galaxy populations over cosmic time while simultaneously taking into account changes in image resolution, rest-frame wavelength, and surface brightness dimming in addition to properly selecting representative morphological samples.Here we present the first step in an ambitious undertaking to calculate the bivariate mass-size distribution as a function of time and morphology. We begin with a large sample (~3 x 105) of SDSS galaxies at z ~ 0.1. Morphologies for this sample have been determined by Galaxy Zoo crowdsourced visual classifications and we split the sample not only by disk- and bulge-dominated galaxies but also in finer morphology bins such as bulge strength. Bivariate distribution functions are the only way to properly account for biases and selection effects. In particular, we quantify the mass-size distribution with a version of the parametric Maximum Likelihood estimator which has been modified to account for measurement errors as well as upper limits on galaxy sizes.

  2. Classification of Knee Joint Vibration Signals Using Bivariate Feature Distribution Estimation and Maximal Posterior Probability Decision Criterion

    Directory of Open Access Journals (Sweden)

    Fang Zheng

    2013-04-01

    Full Text Available Analysis of knee joint vibration or vibroarthrographic (VAG signals using signal processing and machine learning algorithms possesses high potential for the noninvasive detection of articular cartilage degeneration, which may reduce unnecessary exploratory surgery. Feature representation of knee joint VAG signals helps characterize the pathological condition of degenerative articular cartilages in the knee. This paper used the kernel-based probability density estimation method to model the distributions of the VAG signals recorded from healthy subjects and patients with knee joint disorders. The estimated densities of the VAG signals showed explicit distributions of the normal and abnormal signal groups, along with the corresponding contours in the bivariate feature space. The signal classifications were performed by using the Fisher’s linear discriminant analysis, support vector machine with polynomial kernels, and the maximal posterior probability decision criterion. The maximal posterior probability decision criterion was able to provide the total classification accuracy of 86.67% and the area (Az of 0.9096 under the receiver operating characteristics curve, which were superior to the results obtained by either the Fisher’s linear discriminant analysis (accuracy: 81.33%, Az: 0.8564 or the support vector machine with polynomial kernels (accuracy: 81.33%, Az: 0.8533. Such results demonstrated the merits of the bivariate feature distribution estimation and the superiority of the maximal posterior probability decision criterion for analysis of knee joint VAG signals.

  3. The genetic correlation between cigarette smoking and alcohol drinking among Chinese adult male twins: an ordinal bivariate genetic analysis.

    Science.gov (United States)

    Zhang, Ting; Gao, Wenjing; Cao, Weihua; Zhan, Siyan; Lv, Jun; Pang, Zengchang; Wang, Shaojie; Chen, Rongfu; Hu, Yonghua; Li, Liming

    2012-08-01

    Though multiple policies have been implemented, the cigarette control in China is still facing a great challenge. At the same time, alcohol drinking has increasingly become a public health problem. Considering cigarette smoking and alcohol drinking often co-occur, a few studies tested the covariance of these phenotypes. However, the genetic and environmental correlation between them among Chinese population has not been determined. The main aim of this study is to fill this gap. From the Chinese National Twin Registry, we obtained the data on cigarette smoking and alcohol drinking behaviors. The ordinal bivariate genetic analysis was performed to fit the categorical variables. After identifying the best decomposition among the Cholesky, common, and independent pathway model, we established the most parsimonious submodel. The correlation between current tobacco and alcohol use could be explained by Cholesky model. The shared environmental variances for both phenotypes were dropped to construct the most parsimonious submodel. Furthermore, the most parsimonious submodel showed a moderate correlation (0.32, 95%CI=0.17-0.46) between the genetic components and a negligible non-shared environmental correlation. As the first bivariate genetic analysis on current tobacco smoking and current alcohol drinking in China, this study suggested a common genetic vulnerability to tobacco and alcohol use in male twins. Further studies should be carried out to track the pertinent genes that are related to the comorbidity of smoking and drinking in Chinese population. Another urgent need is to recognize the behavior-specific environmental risk factors.

  4. An assessment on the use of bivariate, multivariate and soft computing techniques for collapse susceptibility in GIS environ

    Indian Academy of Sciences (India)

    Işık Yilmaz; Marian Marschalko; Martin Bednarik

    2013-04-01

    The paper presented herein compares and discusses the use of bivariate, multivariate and soft computing techniques for collapse susceptibility modelling. Conditional probability (CP), logistic regression (LR) and artificial neural networks (ANN) models representing the bivariate, multivariate and soft computing techniques were used in GIS based collapse susceptibility mapping in an area from Sivas basin (Turkey). Collapse-related factors, directly or indirectly related to the causes of collapse occurrence, such as distance from faults, slope angle and aspect, topographical elevation, distance from drainage, topographic wetness index (TWI), stream power index (SPI), Normalized Difference Vegetation Index (NDVI) by means of vegetation cover, distance from roads and settlements were used in the collapse susceptibility analyses. In the last stage of the analyses, collapse susceptibility maps were produced from the models, and they were then compared by means of their validations. However, Area Under Curve (AUC) values obtained from all three models showed that the map obtained from soft computing (ANN) model looks like more accurate than the other models, accuracies of all three models can be evaluated relatively similar. The results also showed that the conditional probability is an essential method in preparation of collapse susceptibility map and highly compatible with GIS operating features.

  5. Diagnostic performance of des-γ-carboxy prothrombin (DCP) for hepatocellular carcinoma: a bivariate meta-analysis.

    Science.gov (United States)

    Gao, P; Li, M; Tian, Q B; Liu, Dian-Wu

    2012-01-01

    Serum markers are needed to be developed to specifically diagnose Hepatocellular carcinoma (HCC). Des-γ-carboxy prothrombin (DCP) is a promising tool with limited expense and widely accessibility, but the reported results have been controversial. In order to review the performance of DCP for the diagnosis of HCC, the meta-analysis was performed. After a systematic review of relevant studies, the sensitivity, specificity, positive and negative likelihood ratios (PLR and NLR, respectively) were pooled using a bivariate meta-analysis. Potential between-study heterogeneity was explored by meta-regression model. The post-test probability and the likelihood ratio scattergram to evaluate clinical usefulness were calculated. Based on literature review of 20 publications, the overall sensitivity, specificity, PLR and NLR of DCP for the detection of HCC were 67% (95%CI, 58%-74%), 92% (95%CI, 88%-94%), 7.9 (95%CI, 5.6-11.2) and 0.36 (95%CI, 0.29-0.46), respectively. The area under the bivariate summary receiving operating characteristics curve was 0.89 (95%CI, 0.85-0.92). Significant heterogeneity was present. In conclusion, the major role of DCP is the moderate confirmation of HCC. More prospective studies of DCP are needed in future.

  6. Prognosis of acute myeloid leukemia harboring monosomal karyotype in patients treated with or without allogeneic hematopoietic cell transplantation after achieving complete remission

    Science.gov (United States)

    Yanada, Masamitsu; Kurosawa, Saiko; Yamaguchi, Takuhiro; Yamashita, Takuya; Moriuchi, Yukiyoshi; Ago, Hiroatsu; Takeuchi, Jin; Nakamae, Hirohisa; Taguchi, Jun; Sakura, Toru; Takamatsu, Yasushi; Waki, Fusako; Yokoyama, Hiroki; Watanabe, Masato; Emi, Nobuhiko; Fukuda, Takahiro

    2012-01-01

    To evaluate the prognostic impact of monosomal karyotype on post-remission outcome in acute myeloid leukemia, we retrospectively analyzed 2,099 patients who had achieved complete remission. Monosomal karyotype was noted in 73 patients (4%). Of these, the probability of overall survival from first complete remission was 14% at four years, which was significantly lower than that reported in patients without monosomal karyotype, primarily due to a high relapse rate (86%). Monosomal karyotype remained significantly associated with worse overall survival among patients with unfavorable cytogenetics or complex karyotype, and even in patients who underwent allogeneic hematopoietic cell transplantation during first complete remission. These findings confirm that monosomal karyotype has a significantly adverse effect on post-remission outcome in patients with acute myeloid leukemia treated with and without allogeneic hematopoietic cell transplantation in first complete remission, emphasizing the need for the development of alternative therapies for this patient population. PMID:22180431

  7. TP53 alterations in acute myeloid leukemia with complex karyotype correlate with specific copy number alterations, monosomal karyotype, and dismal outcome.

    Science.gov (United States)

    Rücker, Frank G; Schlenk, Richard F; Bullinger, Lars; Kayser, Sabine; Teleanu, Veronica; Kett, Helena; Habdank, Marianne; Kugler, Carla-Maria; Holzmann, Karlheinz; Gaidzik, Verena I; Paschka, Peter; Held, Gerhard; von Lilienfeld-Toal, Marie; Lübbert, Michael; Fröhling, Stefan; Zenz, Thorsten; Krauter, Jürgen; Schlegelberger, Brigitte; Ganser, Arnold; Lichter, Peter; Döhner, Konstanze; Döhner, Hartmut

    2012-03-01

    To assess the frequency of TP53 alterations and their correlation with other genetic changes and outcome in acute myeloid leukemia with complex karyotype (CK-AML), we performed integrative analysis using TP53 mutational screening and array-based genomic profiling in 234 CK-AMLs. TP53 mutations were found in 141 of 234 (60%) and TP53 losses were identified in 94 of 234 (40%) CK-AMLs; in total, 164 of 234 (70%) cases had TP53 alterations. TP53-altered CK-AML were characterized by a higher degree of genomic complexity (aberrations per case, 14.30 vs 6.16; P number alterations, such as -5/5q-, -7/7q-, -16/16q-, -18/18q-, +1/+1p, and +11/+11q/amp11q13∼25; among CK-AMLs, TP53-altered more frequently exhibited a monosomal karyotype (MK). Patients with TP53 alterations were older and had significantly lower complete remission rates, inferior event-free, relapse-free, and overall survival. In multivariable analysis for overall survival, TP53 alterations, white blood cell counts, and age were the only significant factors. In conclusion, TP53 is the most frequently known altered gene in CK-AML. TP53 alterations are associated with older age, genomic complexity, specific DNA copy number alterations, MK, and dismal outcome. In multivariable analysis, TP53 alteration is the most important prognostic factor in CK-AML, outweighing all other variables, including the MK category.

  8. Comparative cytogenetics of tree frogs of the Dendropsophus marmoratus (Laurenti, 1768) group: conserved karyotypes and interstitial telomeric sequences

    Science.gov (United States)

    Teixeira, Lívia S. R.; Seger, Karin Regina; Targueta, Cíntia Pelegrineti; Orrico, Victor G. Dill; Lourenço, Luciana Bolsoni

    2016-01-01

    Abstract The diploid number 2n = 30 is a presumed synapomorphy of Dendropsophus Fitzinger, 1843, although a noticeable variation in the number of biarmed/telocentric chromosomes is observed in this genus. Such a variation suggests that several chromosomal rearrangements took place after the evolutionary origin of the hypothetical ancestral 30-chromosome karyotype; however, the inferred rearrangements remain unknown. Distinct numbers of telocentric chromosomes are found in the two most cytogenetically studied species groups of Dendropsophus. In contrast, all three species of the Dendropsophus marmoratus (Laurenti, 1768) group that are already karyotyped presented five pairs of telocentric chromosomes. In this study, we analyzed cytogenetically three additional species of this group to investigate if the number of telocentric chromosomes in this group is not as variable as in other Dendropsophus groups. We described the karyotypes of Dendropsophus seniculus (Cope, 1868), Dendropsophus soaresi (Caramaschi & Jim, 1983) and Dendropsophus novaisi (Bokermann, 1968) based on Giemsa staining, C-banding, silver impregnation and in situ hybridization with telomeric probes. Dendropsophus seniculus, Dendropsophus soaresi and Dendropsophus novaisi presented five pairs of telocentric chromosomes, as did the remaining species of the group previously karyotyped. Though the species of this group show a high degree of karyotypic similarity, Dendropsophus soaresi was unique in presenting large blocks of het-ITSs (heterochromatic internal telomeric sequences) in the majority of the centromeres. Although the ITSs have been interpreted as evidence of ancestral chromosomal fusions and inversions, the het-ITSs detected in the karyotype of Dendropsophus soaresi could not be explained as direct remnants of ancestral chromosomal rearrangements because no evidence of chromosomal changes emerged from the comparison of the karyotypes of all of the species of the Dendropsophus marmoratus group

  9. Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapy.

    Science.gov (United States)

    Herling, Carmen Diana; Klaumünzer, Marion; Rocha, Cristiano Krings; Altmüller, Janine; Thiele, Holger; Bahlo, Jasmin; Kluth, Sandra; Crispatzu, Giuliano; Herling, Marco; Schiller, Joanna; Engelke, Anja; Tausch, Eugen; Döhner, Hartmut; Fischer, Kirsten; Goede, Valentin; Nürnberg, Peter; Reinhardt, Hans Christian; Stilgenbauer, Stephan; Hallek, Michael; Kreuzer, Karl-Anton

    2016-07-21

    Genetic instability is a feature of chronic lymphocytic leukemia (CLL) with adverse prognosis. We hypothesized that chromosomal translocations or complex karyotypes and distinct somatic mutations may impact outcome after first-line chemoimmunotherapy of CLL patients. We performed metaphase karyotyping and next-generation sequencing (NGS) of 85 genes in pretreatment blood samples obtained from 161 patients registered for CLL11, a 3-arm phase 3 trial comparing frontline chlorambucil (Clb) vs Clb plus rituximab (Clb-R) or Clb plus obinutuzumab in CLL patients with significant comorbidity. Chromosomal aberrations as assessed by karyotyping were observed in 68.8% of 154 patients, 31.2% carried translocations, and 19.5% showed complex karyotypes. NGS revealed 198 missense/nonsense mutations and 76 small indels in 76.4% of patients. The most frequently mutated genes were NOTCH1, SF3B1, ATM, TP53, BIRC3, POT1, XPO1, and KRAS Sole chemotherapy, treatment with Clb-R, or genetic lesions in TP53 (9.9% of patients) and KRAS (6.2% of patients) were significantly associated with nonresponse to study therapy. In multivariate models, complex karyotypes and POT1 mutations (8.1% of patients) represented significant prognostic factors for an unfavorable survival, independently of IGHV mutation status, Binet stage, and serum β-2-microglobuline. Patients with the copresence of complex karyotypes and deletions/mutations involving TP53 demonstrated a particularly short survival. In summary, this is the first prospective, controlled study in CLL patients that shows a role of complex karyotype aberrations as an independent prognostic factor for survival after front-line therapy. Moreover, the study identifies mutations in KRAS and POT1 as novel determinants of outcome after chemoimmunotherapy using chlorambucil and anti-CD20 treatment. © 2016 by The American Society of Hematology.

  10. Karyotype analysis with amniotic fluid in 12365 pregnant women with indications for genetic amniocentesis and strategies of prenatal diagnosis.

    Science.gov (United States)

    Xiao, H; Yang, Y L; Zhang, C Y; Liao, E J; Zhao, H R; Liao, S X

    2016-01-01

    We explored the strategies of prenatal diagnosis by foetal karyotype analysis in pregnant women with indications for genetic amniocentesis. Karyotype analysis of amniotic fluid was performed on 12365 pregnant women with indications for genetic amniocentesis. The detection rates and distributions of abnormal karyotypes were observed in a variety of indications for genetic amniocentesis. The detection rates of abnormal karyotype were 57.4% in either a mother or father with chromosomal abnormality, 8.5% in the pregnant women with pathological ultrasound finding (PUF), 2.79% in the pregnant women with advanced age (35 years and over) and 2.23% in the women with abnormal maternal serum screening (MSS) tests. Foetal abnormal karyotype was found in 86 pregnant women with PUF; of the 86 pregnant women, 42 had trisomy 13, 18 or 21. Of the 12365 pregnant women, foetal abnormal karyotype was found in 428 (3.46%); of the 428 foetuses, only 154 had trisomy 13, 18 or 21. In the pregnant women with abnormal MSS, 111 foetuses had abnormal karyotype, but only 36 foetuses had trisomy 13, 18 or 21. We conclude that (1) ultrasound is an important approach to prevent the birth of foetuses with chromosomal disease. (2) Non-invasive prenatal DNA detection cannot completely replace invasive prenatal diagnosis and MSS. (3) The strategies of prenatal diagnosis: Genetic amniocentesis is strongly recommended for the pregnant women with indications for genetic amniocentesis. For pregnant women who refuse invasive prenatal diagnosis, non-invasive prenatal DNA detection is first performed. If the results of non-invasive prenatal DNA detection are negative, the pregnant women are followed up by ultrasound; if the results of non-invasive prenatal DNA detection are positive, the pregnant women should undergo invasive prenatal diagnosis.

  11. A Bivariate Mixed Distribution with a Heavy-tailed Component and its Application to Single-site Daily Rainfall Simulation

    Energy Technology Data Exchange (ETDEWEB)

    Li, Chao ..; Singh, Vijay P.; Mishra, Ashok K.

    2013-02-06

    This paper presents an improved brivariate mixed distribution, which is capable of modeling the dependence of daily rainfall from two distinct sources (e.g., rainfall from two stations, two consecutive days, or two instruments such as satellite and rain gauge). The distribution couples an existing framework for building a bivariate mixed distribution, the theory of copulae and a hybrid marginal distribution. Contributions of the improved distribution are twofold. One is the appropriate selection of the bivariate dependence structure from a wider admissible choice (10 candidate copula families). The other is the introduction of a marginal distribution capable of better representing low to moderate values as well as extremes of daily rainfall. Among several applications of the improved distribution, particularly presented here is its utility for single-site daily rainfall simulation. Rather than simulating rainfall occurrences and amounts separately, the developed generator unifies the two processes by generalizing daily rainfall as a Markov process with autocorrelation described by the improved bivariate mixed distribution. The generator is first tested on a sample station in Texas. Results reveal that the simulated and observed sequences are in good agreement with respect to essential characteristics. Then, extensive simulation experiments are carried out to compare the developed generator with three other alternative models: the conventional two-state Markov chain generator, the transition probability matrix model and the semi-parametric Markov chain model with kernel density estimation for rainfall amounts. Analyses establish that overall the developed generator is capable of reproducing characteristics of historical extreme rainfall events and is apt at extrapolating rare values beyond the upper range of available observed data. Moreover, it automatically captures the persistence of rainfall amounts on consecutive wet days in a relatively natural and easy way

  12. The Pattern of Variation between Diarrhea and Malaria Coexistence with Corresponding Risk Factors in, Chikhwawa, Malawi: A Bivariate Multilevel Analysis

    Directory of Open Access Journals (Sweden)

    Salule Masangwi

    2015-07-01

    Full Text Available Developing countries face a huge burden of infectious diseases, a number of which co-exist. This paper estimates the pattern and variation of malaria and diarrhea coexistence in Chikhwawa, a district in Southern Malawi using bivariate multilevel modelling with Bayesian estimation. A probit link was employed to examine hierarchically built data from a survey of individuals (n = 6,727 nested within households (n = 1,380 nested within communities (n = 33. Results show significant malaria [ ] and diarrhea [ ] variations with a strong correlation between them [ ] at household level. There are significant malaria [ ] and diarrhea [   ] variations at community level but with a small correlation [ ] between them. There is also significant correlation between malaria and diarrhea at individual level [ 0.241]. These results suggest a close association between reported malaria-like illness and diarrheal illness especially at household and individual levels in Southern Malawi.

  13. Insight into the karyotype evolution of brachypodium species using comparative chromosome barcoding.

    Science.gov (United States)

    Idziak, Dominika; Hazuka, Iwona; Poliwczak, Beata; Wiszynska, Anna; Wolny, Elzbieta; Hasterok, Robert

    2014-01-01

    Paleogenomic studies based on bioinformatic analyses of DNA sequences have enabled unprecedented insight into the evolution of grass genomes. They have revealed that nested chromosome fusions played an important role in the divergence of modern grasses. Nowadays, studies on karyotype evolution based on the sequence analysis can also be effectively complemented by the fine-scale cytomolecular approach. In this work, we studied the karyotype evolution of small genome grasses using BAC-FISH based comparative chromosome barcoding in four Brachypodium species: diploid B. distachyon (2n = 10) and B. sylvaticum (2n = 18), diploid (2n = 18) and allopolyploid (2n = 28) B. pinnatum as well as B. phoenicoides (2n = 28). Using BAC clones derived from the B. distachyon genomic libraries for the chromosomes Bd2 and Bd3, we identified the descending dysploidy events that were common for diploids with x = 9 and B. distachyon as well as two nested chromosome fusions that were specific only for B. distachyon. We suggest that dysploidy events that are shared by different lineages of the genus had already appeared in their common ancestor. We also show that additional structural rearrangements, such as translocations and duplications, contributed to increasing genome diversification in the species analysed. No chromosomes structured exactly like Bd2 and Bd3 were found in B. pinnatum (2n = 28) and B. phoenicoides. The structure of Bd2 and Bd3 homeologues belonging to the two genomes in the allopolyploids resembled the structure of their counterparts in the 2n = 18 diploids. These findings reinforce the hypothesis which excludes B. distachyon as a potential parent for Eurasian perennial Brachypodium allopolyploids. Our cytomolecular data elucidate some mechanisms of the descending dysploidy in monocots and enable reconstructions of the evolutionary events which shaped the extant karyotypes in both the genus Brachypodium and in grasses as a whole.

  14. The karyotype of Nothoscordum arenarium Herter (Gilliesioideae, Alliaceae): A populational and cytomolecular analysis.

    Science.gov (United States)

    Souza, Luiz G R; Crosa, Orfeo; Winge, Helga; Guerra, Marcelo

    2009-01-01

    The genus Nothoscordum Kunth comprises approximately 20 species native to South America. Karyologically, the genus is remarkable for its large chromosomes and Robertsonian translocations. Variation in chromosome number has been recorded in a few polyploid species and it is unknown among diploids. This study presents the chromosome number and morphology of 53 individuals of seven populations of N. arenarium Herter (2n = 10). In addition, karyotype analyses after C-banding, staining with CMA and DAPI, and in situ hybridization with 5S and 45S rDNA probes were performed in six individuals from one population. All individuals exhibited 2n = 10 (6M + 4A), except for one tetraploid (2n = 20, 12M + 8A) and one triploid (2n = 15, 9M + 6A) plant. C-banding revealed the presence of CMA(+) /DAPI (-) heterochromatin in the short arm and in the proximal region of the long arm of all acrocentric chromosomes. The 45S rDNA sites co-localized with the CMA (+) regions of the acrocentrics short arms, while the 5S rDNA probe only hybridized with the subterminal region of a pair of metacentric chromosomes. A change in the pattern of CMA bands and rDNA sites was observed in only one individual bearing a reciprocal translocation involving the long arm of a metacentric and the long arm of an acrocentric chromosome. These data suggest that, despite isolated cases of polyploidy and translocation, the karyotype of N. arenarium is very stable and the karyotypic instability described for other species may be associated with their polyploid condition.

  15. The karyotype of Nothoscordum arenarium Herter (Gilliesioideae, Alliaceae: a populational and cytomolecular analysis

    Directory of Open Access Journals (Sweden)

    Luiz G.R. Souza

    2009-01-01

    Full Text Available The genus Nothoscordum Kunth comprises approximately 20 species native to South America. Karyologically, the genus is remarkable for its large chromosomes and Robertsonian translocations. Variation in chromosome number has been recorded in a few polyploid species and it is unknown among diploids. This study presents the chromosome number and morphology of 53 individuals of seven populations of N. arenarium Herter (2n = 10. In addition, karyotype analyses after C-banding, staining with CMA and DAPI, and in situ hybridization with 5S and 45S rDNA probes were performed in six individuals from one population. All individuals exhibited 2n = 10 (6M + 4A, except for one tetraploid (2n = 20, 12M + 8A and one triploid (2n = 15, 9M + 6A plant. C-banding revealed the presence of CMA+/DAPI- heterochromatin in the short arm and in the proximal region of the long arm of all acrocentric chromosomes. The 45S rDNA sites co-localized with the CMA+ regions of the acrocentrics short arms, while the 5S rDNA probe only hybridized with the subterminal region of a pair of metacentric chromosomes. A change in the pattern of CMA bands and rDNA sites was observed in only one individual bearing a reciprocal translocation involving the long arm of a metacentric and the long arm of an acrocentric chromosome. These data suggest that, despite isolated cases of polyploidy and translocation, the karyotype of N. arenarium is very stable and the karyotypic instability described for other species may be associated with their polyploid condition.

  16. A new karyotype for the genus Cavia from a southern island of Brazil (Rodentia - Caviidae

    Directory of Open Access Journals (Sweden)

    A. Gava

    1998-03-01

    Full Text Available Intraspecific karyotype variation in mammal species is very common and often caused by centromeric fusion of acrocentric chromosomes. We describe here a new karyotype 2n = 62 (FN = 112 for the genus Cavia from the Moleques do Sul Islands, of the southern coast of Brazil. We analyzed two male and four female karyotypes that had twenty-four biarmed pairs and six pairs of acrocentric chromosomes. The sexual pair consisted of a metacentric X-chromosome and a large acrocentric Y. C-bands were found in the centromeric and pericentromeric regions of almost all chromosomes, except for some small biarmed and acrocentric ones. Nucleolus organizer regions appeared in two biarmed chromosomes, and G-banding patterns were also seen.RESUMO A variação cariotípica nas espécies de mamíferos é bastante comum e geralmente causada pela fusão de cromossomos acrocêntricos. Foi descrito neste trabalho um novo cariótipo, com 2n = 62 e FN = 112, para o gênero Cavia proveniente das ilhas Moleques do Sul, da costa sul do Brasil. Foram analisados os cariótipos de dois machos e quatro fêmeas que possuiam 24 pares de cromossomos com dois braços e seis pares de acrocêntricos. O par sexual era constituído por um cromossomo X metacêntrico grande e um Y acrocêntrico. As bandas C estavam localizadas nas regiões centroméricas e pericentroméricas da maioria dos cromossomos, com exceção de alguns acrocêntricos e os cromossomos de dois braços menores. As regiões organizadoras de nucléolo ocorreram em dois cromossomos com dois braços e o padrão de bandamento G foi também apresentado.

  17. Karyotypic diversity among three species of the genus Astyanax (Characiformes: Characidae).

    Science.gov (United States)

    Nishiyama, P B; Vieira, M M R; Porto, F E; Borin, L A; Portela-Castro, A L B; Santos, I C M

    2016-06-01

    The group Incertae sedis within the Characidae family currently includes 88 genera, previously included in the subfamily Tetragonopterinae. Among them is the genus Astyanax comprising a group of species with similar morphology and widely distributed in the Neotropics. Thus, the present study aimed to analyze the karyotype diversity in Astyanax species from different watersheds by conventional Giemsa staining, C-banding and fluorescence in situ hybridization (FISH rDNA 18S) probe.specimens of Astyanax aff. paranae belonging to the "scabripinnis complex", Astyanax asunsionensis and Astyanax aff. bimaculatus were analyzed". Two sympatric karyomorphs were observed in Astyanax.aff paranae, one of them having2n=48andthe other one with 2n=50 chromosomes. Other population of this same species also presented 2n=50 chromosomes, but differing in the karyotype formula and with macro supernumerary chromosome found in 100% of the cells in about 80%of females analyzed. Two population of A. asuncionensis and one population of Astyanax. aff. bimaculatus, also showed a diploid number of 50 chromosomes, but also differing in their karyotype formulas. Therefore, A. asuncionensis was also characterized by intraspecific chromosome diversity. The C-banding analysis was able to demonstrate a distinctable to demonstrate a distinct pattern of heterochromatin differing A. asuncionensis from Astyanax aff. paranae and Astyanax aff. bimaculatus. The supernumerary chromosome of Astyanax aff. paranae proved completely heterochromatic. Only Astyanax.aff. bimaculatus multiple showed multiple sites of nucleolar organizing regions. The other species were characterized by having a simple system of NOR. These data contributes to the know ledge of the existing biodiversity in our fish fauna, here highlighted by the inter- and intraspecific chromosomal diversity in the genus Astyanax.

  18. Insight into the karyotype evolution of brachypodium species using comparative chromosome barcoding.

    Directory of Open Access Journals (Sweden)

    Dominika Idziak

    Full Text Available Paleogenomic studies based on bioinformatic analyses of DNA sequences have enabled unprecedented insight into the evolution of grass genomes. They have revealed that nested chromosome fusions played an important role in the divergence of modern grasses. Nowadays, studies on karyotype evolution based on the sequence analysis can also be effectively complemented by the fine-scale cytomolecular approach. In this work, we studied the karyotype evolution of small genome grasses using BAC-FISH based comparative chromosome barcoding in four Brachypodium species: diploid B. distachyon (2n = 10 and B. sylvaticum (2n = 18, diploid (2n = 18 and allopolyploid (2n = 28 B. pinnatum as well as B. phoenicoides (2n = 28. Using BAC clones derived from the B. distachyon genomic libraries for the chromosomes Bd2 and Bd3, we identified the descending dysploidy events that were common for diploids with x = 9 and B. distachyon as well as two nested chromosome fusions that were specific only for B. distachyon. We suggest that dysploidy events that are shared by different lineages of the genus had already appeared in their common ancestor. We also show that additional structural rearrangements, such as translocations and duplications, contributed to increasing genome diversification in the species analysed. No chromosomes structured exactly like Bd2 and Bd3 were found in B. pinnatum (2n = 28 and B. phoenicoides. The structure of Bd2 and Bd3 homeologues belonging to the two genomes in the allopolyploids resembled the structure of their counterparts in the 2n = 18 diploids. These findings reinforce the hypothesis which excludes B. distachyon as a potential parent for Eurasian perennial Brachypodium allopolyploids. Our cytomolecular data elucidate some mechanisms of the descending dysploidy in monocots and enable reconstructions of the evolutionary events which shaped the extant karyotypes in both the genus Brachypodium and in grasses as a whole.

  19. Chromosome painting in three-toed sloths: a cytogenetic signature and ancestral karyotype for Xenarthra

    Directory of Open Access Journals (Sweden)

    Azevedo Nathália F

    2012-03-01

    Full Text Available Abstract Background Xenarthra (sloths, armadillos and anteaters represent one of four currently recognized Eutherian mammal supraorders. Some phylogenomic studies point to the possibility of Xenarthra being at the base of the Eutherian tree, together or not with the supraorder Afrotheria. We performed painting with human autosomes and X-chromosome specific probes on metaphases of two three-toed sloths: Bradypus torquatus and B. variegatus. These species represent the fourth of the five extant Xenarthra families to be studied with this approach. Results Eleven human chromosomes were conserved as one block in both B. torquatus and B. variegatus: (HSA 5, 6, 9, 11, 13, 14, 15, 17, 18, 20, 21 and the X chromosome. B. torquatus, three additional human chromosomes were conserved intact (HSA 1, 3 and 4. The remaining human chromosomes were represented by two or three segments on each sloth. Seven associations between human chromosomes were detected in the karyotypes of both B. torquatus and B. variegatus: HSA 3/21, 4/8, 7/10, 7/16, 12/22, 14/15 and 17/19. The ancestral Eutherian association 16/19 was not detected in the Bradypus species. Conclusions Our results together with previous reports enabled us to propose a hypothetical ancestral Xenarthran karyotype with 48 chromosomes that would differ from the proposed ancestral Eutherian karyotype by the presence of the association HSA 7/10 and by the split of HSA 8 into three blocks, instead of the two found in the Eutherian ancestor. These same chromosome features point to the monophyly of Xenarthra, making this the second supraorder of placental mammals to have a chromosome signature supporting its monophyly.

  20. Karyotype diversity suggests that Laonastes aenigmamus (Laotian rock rat) (Rodentia, Diatomyidae) is a multi-specific genus.

    Science.gov (United States)

    Richard, Florence; Gerbault-Seureau, Michèle; Douangboupha, Bounneuang; Keovichit, Kham; Hugot, Jean-Pierre; Dutrillaux, Bernard

    2016-09-01

    Laonastes aenigmamus (Khanyou) is a recently described rodent species living in geographically separated limestone formations of the Khammuan Province in Lao PDR. Chromosomes of 21 specimens of L. aenigmamus were studied using chromosome banding as well as fluorescent in situ hybridization (FISH) techniques using human painting, telomere repeats, and 28S rDNA probes. Four different karyotypes were established. Study with human chromosome paints and FISH revealed that four large chromosomes were formed by multiple common tandem fusions, with persistence of some interstitial telomeres. The rearrangements separating the different karyotypes (I to IV) were also reconstructed. Various combinations of Robertsonian translocations or tandem fusions involving the same chromosomes differentiate these karyotypes. These rearrangements create a strong gametic barrier, which isolates specimens with karyotype II from the others. C-banding and FISH with telomere repeats also exhibit large and systematized differences between karyotype II and others. These data indicate an ancient reproductive separation and suggest that Laonastes is not a mono-specific genus.

  1. [Will the new molecular karyotyping BACs-on-Beads technique replace the traditional cytogenetic prenatal diagnostics? Preliminary reports].

    Science.gov (United States)

    Piotrowski, Krzysztof; Henkelman, Małgorzata; Zajaczek, Stanisław

    2012-04-01

    Recently several attempts have been made to introduce molecular karyotyping techniques into prenatal diagnosis. These methods can be used not only for the diagnosis of classical aneuploidies, but first of all they should be employed in the diagnostics of microaberrations, which are not revealed by low resolution methods of classical cytogenetics. The new method BACs-on-Beads is designed for quick detection of broad panel of aneuploidies and microdeletions, by the specified detection of deletions and duplications in the examined fetal DNA acquired from amniocytes. Prenatal diagnostics was performed with the use of BACs-on-Beads and classical amniocyte karyotyping simultaneously in a group of 54 pregnancies. This new method proved to be fully compatible with typical karyotyping in cultures of amniocytes in 98.2%. It was confirmed that the main advantage of this method is the possibility of quick diagnosis, within 48 hours, with much wider spectrum of detected anomalies when compared to classical methods. Contrary to other molecular karyotyping methods, the BACs-on-Beads technique is more economical, less time consuming and less complex equipment is needed than in case of other methods. We suppose that this technique can replace classical karyotyping methods in the near future.

  2. Prevalence of chromosomal abnormalities and timing of karyotype analysis in patients with recurrent implantation failure (RIF) following assisted reproduction

    Science.gov (United States)

    De Sutter, P.; Stadhouders, R.; Dutré, M.; Gerris, J.; Dhont, M.

    2012-01-01

    Aims: To analyze the prevalence and type of karyotype abnormalities in RIF patients and to evaluate the adequate timing for analysis and the presence of possible risk factors. Methods: 615 patients (317 women and 298 men) with RIF, having undergone at least 3 sequential failed IVF/ICSI cycles prior to karyotype analysis, were included in this study. Anomaly rates found were compared with published series. Results: Chromosomal abnormalities were diagnosed in 2.1% of patients (13/615): 8 females (2.5%) and 5 males (1.7%) which is significantly higher for the females than in unselected newborns (0.8%) and normo-ovulatory women (0.6%) but lower than in women with high-order implantation failure (10.8%). No significant differences were found with couples at the start of IVF/ICSI (2.0%). Karyotyping all patients prior to IVF/ICSI results in a higher cost than selecting RIF patients. Two subgroups showed an increased prevalence of abnormalities: secondary infertile women with a history of only miscarriages (9.1%) and women with female infertility (6.0%). Conclusion: A karyotype analysis is indicated in all women with RIF. Nulliparous women with a history of miscarriage and women with documented infertility are at greater risk of CA and are to be advised to undergo karyotyping. PMID:24753890

  3. Comparison of the genetic relationship between nine Cephalopod species based on cluster analysis of karyotype evolutionary distance

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    Jin-hai Wang

    2017-07-01

    Full Text Available Karyotype analysis was carried out on gill cells of three species of octopods using a conventional air-drying method. The karyotype results showed that all the three species have the same diploid chromosome number, 2n=60, but with different karyograms as 2n=38M+6SM+8ST+8T, FN (fundamental number=104 (Cistopus chinensis Zheng et al., 2012, 2n=42M+6SM+4ST+8T, FN=108 (Octopus minor (Sasaki, 1920 and 2n=32M+16SM+12T, FN=108 (Amphioctopus fangsiao (d’Orbigny, 1839–1841. These findings were combined with data from earlier studies to infer the genetic relationships between nine species via cluster analysis using the karyotype evolutionary distance (De and resemblance-near coefficient (λ. The resulting tree revealed a clear distinction between different families and orders which was substantially consistent with molecular phylogenies. The smallest intraspecific evolutionary distance (De=0.2013, 0.2399 and largest resemblance-near coefficient (λ=0.8184, 0.7871 appeared between O. minor and C. chinensis, and Sepia esculenta Hoyle, 1885 and S. lycidas Gray, 1849, respectively, indicating that these species have the closest relationship. The largest evolutionary gap appeared between species with complicated karyotypes and species with simple karyotypes. Cluster analysis of De and λ provides information to supplement traditional taxonomy and molecular systematics, and it would serve as an important auxiliary for routine phylogenetic study.

  4. Microarray karyotyping of commercial wine yeast strains reveals shared, as well as unique, genomic signatures

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    Levine R Paul

    2005-04-01

    Full Text Available Abstract Background Genetic differences between yeast strains used in wine-making may account for some of the variation seen in their fermentation properties and may also produce differing sensory characteristics in the final wine product itself. To investigate this, we have determined genomic differences among several Saccharomyces cerevisiae wine strains by using a "microarray karyotyping" (also known as "array-CGH" or "aCGH" technique. Results We have studied four commonly used commercial wine yeast strains, assaying three independent isolates from each strain. All four wine strains showed common differences with respect to the laboratory S. cerevisiae strain S288C, some of which may be specific to commercial wine yeasts. We observed very little intra-strain variation; i.e., the genomic karyotypes of different commercial isolates of the same strain looked very similar, although an exception to this was seen among the Montrachet isolates. A moderate amount of inter-strain genomic variation between the four wine strains was observed, mostly in the form of depletions or amplifications of single genes; these differences allowed unique identification of each strain. Many of the inter-strain differences appear to be in transporter genes, especially hexose transporters (HXT genes, metal ion sensors/transporters (CUP1, ZRT1, ENA genes, members of the major facilitator superfamily, and in genes involved in drug response (PDR3, SNQ1, QDR1, RDS1, AYT1, YAR068W. We therefore used halo assays to investigate the response of these strains to three different fungicidal drugs (cycloheximide, clotrimazole, sulfomethuron methyl. Strains with fewer copies of the CUP1 loci showed hypersensitivity to sulfomethuron methyl. Conclusion Microarray karyotyping is a useful tool for analyzing the genome structures of wine yeasts. Despite only small to moderate variations in gene copy numbers between different wine yeast strains and within different isolates of a given

  5. Morphological and karyotypic variation in three wild populations of Meretrix meretrix

    Institute of Scientific and Technical Information of China (English)

    DENG Yuewen; DU Xiaodong; HUANG Ronglian; WANG Qingheng

    2008-01-01

    Three wild populations of Meretrix meretrix sampled from Dongxing,Beihai,and Shankou along the coast of Guangxi,China,were investigated with morphometry and karyometry.Six morphological indices (shell length,shell height,shell width,hinge length,total wet weight and shell weight) were measured.Differences in all morphological indices except hinge length were significant among the three populations (P 0.05).However,the order of metacentric,submetacentric and subtelocentric chromosome pairs was variable among the three populations.The results indicate a high level of inter-population variation in morphology and karyotype.

  6. Bio-metric study of pig karyotype; Etude biometrique du caryotype du porc

    Energy Technology Data Exchange (ETDEWEB)

    Haag, J.; Lacourly, N.; Nizza, P. [Commissariat a l' Energie Atomique, Saclay (France). Centre d' Etudes Nucleaires

    1969-07-01

    This study has a twofold purpose, the former is to determine the swine karyotype as accurately as possible, the latter is to try and develop a method of automatic classification and to show its possibilities and limits. (authors) [French] Cette etude a un double objet: d'une part, de definir de la facon aussi precise que possible le caryotype du porc et d'autre part, de tenter une methode de classification automatique et d'en montrer les possibilites ainsi que les limites. (auteurs)

  7. A first glimpse of wild lupin karyotype variation as revealed by comparative cytogenetic mapping

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    Karolina Susek

    2016-07-01

    Full Text Available Insight into plant genomes at the cytomolecular level provides useful information about their karyotype structure, enabling inferences about taxonomic relationships and evolutionary origins. The Old World lupins demonstrate a high level of genomic diversification involving variation in chromosome numbers (2n=32-52, basic chromosome numbers (x=5-7, 9, 13 and in nuclear genome size (2C DNA=0.97-2.68 pg. Lupins comprise both crop and wild species and provide an intriguing system to study karyotype evolution.In order to investigate lupin chromosome structure, heterologous FISH was used. Sixteen BACs that had been generated as chromosome markers for the reference species, Lupinus angustifolius, were used to identify chromosomes in the wild species and explore karyotype variation. While all ‘single-locus’ in L. angustifolius, in the wild lupins these clones proved to be ‘single-locus’, ‘single-locus’ with additional signals, ‘repetitive’ or had no detectable BAC-FISH signal. The diverse distribution of the clones in the targeted genomes suggests a complex evolution history, which possibly involved multiple chromosomal changes such as fusions/fissions and repetitive sequence amplification. Twelve BACs were sequenced and we found numerous transposable elements including DNA transposons as well as LTR and non-LTR retrotransposons with varying quantity and composition among the different lupin species. However, at this preliminary stage, no correlation was observed between the pattern of BAC-FISH signals and the repeat content in particular BACs. Here, we describe the first BAC-based chromosome-specific markers for the wild species: L. cosentinii, L. cryptanthus, L. pilosus, L. micranthus and one New World lupin, L. multiflorus. These BACs could constitute the basis for an assignment of the chromosomal and genetic maps of other lupins, e.g. L. albus and L. luteus. Moreover, we identified karyotype variation that helps illustrate the

  8. Completely Distinguishing Individual A-genome Chromosomes and Their Karyotyping Analysis by Multiple BAC-FISH

    Institute of Scientific and Technical Information of China (English)

    WANG Kai; GUO Wang-zhen; ZHANG Tian-zhen

    2008-01-01

    @@ Multiple BAC-FISH is a powerful tool for modern cytogenetic researching in both animals and plants.But in cotton,this technique is unavailable due to the high percentage of repetitive sequences.Here,we identified twenty BACs from more than fifty BACs,and successfully demonstrated the use of multiple BAC-FISH for cytogenetie research in a diploid cotton species,G.arboreum.The karyotyping should be a basic application of this technique,but the potential usage such as high-resolution physical mapping construction,assisting BAC-by-BAC sequencing will be invaluable.

  9. A case of premature ovarian failure (POF) in a 31-year-old woman with a 47,XXX karyotype.

    Science.gov (United States)

    Skałba, Piotr; Cygal, Anna; Gierzyńska, Zuzanna

    2010-01-01

    A case of POF in a 31-year-old woman with karyotype 47,XXX. The aim of the study was to discuss a case of POF in a 31-year-old patient with polysomy 47,XXX. The described karyotype is not usually associated with this characteristic physical phenotype. In some rare cases, menstrual disorders, sterility, secondary amenorrhoea, premature menopause, and low intelligence are found. Our observations revealed the necessity for cytogenetic examination in all women at reproductive age with symptoms of premature ovarian failure. According to the data found in literature, patients with POF and karyotype disorders belong to the risk group of premature death, mostly for cardiological reasons. Raising patient awareness about the risk may have a positive effect on quality of life and regularity of check-ups.

  10. Three new karyotypes extend a Robertsonian fan in Ethiopian spiny mice of the genus Acomys I. Geoffroy, 1838 (Mammalia, Rodentia

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    Leonid Lavrenchenko

    2011-12-01

    Full Text Available Three new karyotypes (2n=40, 44, 52 are described revealing what are probably new cryptic species of Ethiopian spiny mice. Two other diploid numbers have already been reported for the country (2n=36 and 68 and, overall, the five known karyotypic forms constitute a common lineage differentiated by a Robertsonian process. Such arrays of karyotypic forms are known as a ‘Robertsonian fan’. This view of the situation in Ethiopian Acomys I. Geoffroy, 1838 is based on standard chromosomal morphology that reveals a constant FN (68 and needs further investigation of chromosome homology by differential staining and/or molecular cytogenetic techniques as well as further molecular phylogenetic analysis.

  11. Karyotype in secondary hematologic disorders after treatment for Hodgkin's disease. A study of 19 patients

    Energy Technology Data Exchange (ETDEWEB)

    Iurlo, A.; Mecucci, C.; Van Orshoven, A.; Michaux, J.L.; Boogaerts, M.; Van den Berghe, H.

    1988-12-01

    In 19 cases of secondary hematologic disorders in patients previously treated for Hodgkin's disease, chromosome aberrations were analyzed in relation to the type of previous chemo- and/or radiotherapy, age of the patients, histopathologic features of the Hodgkin's disease at diagnosis, time interval between the treatment and the occurrence of the secondary disorder, and survival. The karyotype was of significant prognostic value when three cytogenetic groups were considered: patients with normal karyotypes; patients with aberrations of chromosome 7 as the sole anomaly; and patients with complex rearrangements and translocations. The last group showed the lowest rate of survival. Bone marrow transplantation was successful in two patients with a normal karyotype.

  12. 盐地碱蓬的染色体核型分析%Karyotype analysis of Suaeda salsa (L.) Pall

    Institute of Scientific and Technical Information of China (English)

    张峰; 姚燕

    2013-01-01

    The paper originally analyzes the number of chromosomes and karyotype of Suaeda salsa (L. ) Pall. Results show that its chromosome number is 2n =18, and that its karyotype formula is K(2n) =2x = 18 = 16m +2sm. The karyotype is 1A based on the classification standard of Stebbins.%本文首次对盐地碱蓬(Suaeda salsa(L.)Pall.)的染色体数目和核型进行了分析研究.结果表明,盐地碱蓬的染色体数目2n=18,核型公式为K(2n)=18=16m +2sm.根据Stebbins的核型分类标准,盐地碱蓬的核型属1A型.

  13. Karyotype evolution in Tilapia: mitotic and meiotic chromosome analysis of Oreochromis karongae and O. niloticus x O. karongae hybrids.

    Science.gov (United States)

    Harvey, S C; Campos-Ramos, R; Kennedy, D D; Ezaz, M T; Bromage, N R; Griffin, D K; Penman, D J

    2002-06-01

    The karyotype of Oreochromis species is considered to be highly conserved, with a diploid chromosome complement of 2n = 44. Here we show, by analysis of mitotic and meiotic chromosomes, that the karyotype of O. karongae, one of the Lake Malawi 'chambo' species, is 2n = 38. This difference in chromosome number does not prevent the production of inter-specific hybrids between O. niloticus (2n = 44) and O. karongae (2n = 38). Analysis of the meiotic chromosomes of the O. niloticus x O. karongae hybrids indicates that three separate chromosome fusion events have occurred in O. karongae. Comparison of the O. karongae and O. niloticus karyotypes suggests that these consist of one Robertsonian fusion and two fusions of a more complex nature.

  14. Analysis on the Chromosome Karyotype of Rhoeo discolor 'Compacta'%小蚌兰的核型分析

    Institute of Scientific and Technical Information of China (English)

    黄佳贤; 张玄兵; 朱伟玲

    2011-01-01

    The chromosome number and karyotype of small oyster plant was studied using fingertip pressing method. The results indicated that there were 64 small chromosomes. The karyotype formula was 2n=2x=32m+28sm+4st. The karyotype type was 2B.%采用染色体压片技术对小蚌兰进行染色体数目和核型分析.结果表明:小蚌兰体细胞染色体较小,染色体数目是2n=64;核型公式为2n=2x=32m+28sm+4st,染色体相对长度组成为2n=64=12L+18M2+20M1+14S,核型分类为2B型.

  15. Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study

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    Bhola Shama L

    2008-05-01

    Full Text Available Abstract Background In the past 30 years karyotyping was the gold standard for prenatal diagnosis of chromosomal aberrations in the fetus. Traditional karyotyping (TKT has a high accuracy and reliability. However, it is labor intensive, the results take 14–21 days, the costs are high and unwanted findings such as abnormalities with unknown clinical relevance are not uncommon. These disadvantages challenged the practice of karyotyping. Multiplex ligation-dependent probe amplification (MLPA is a new molecular genetic technique in prenatal diagnosis. Previous preclinical evidence suggests equivalence of MLPA and traditional karyotyping (TKT regarding test performance. Methods/Design The proposed study is a multicentre diagnostic substitute study among pregnant women, who choose to have amniocentesis for the indication advanced maternal age and/or increased risk following prenatal screening test. In all subjects, both MLPA and karyotyping will be performed on the amniotic fluid sample. The primary outcome is diagnostic accuracy. Secondary outcomes will be maternal quality of life, women's preferences and costs. Analysis will be intention to treat and per protocol analysis. Quality of life analysis will be carried out within the study population. The study aims to include 4500 women. Discussion The study results are expected to help decide whether MLPA can replace traditional karyotyping for 'low-risk' pregnancies in terms of diagnostic accuracy, quality of life and women's preferences. This will be the first clinical study to report on all relevant aspects of the potential replacement. Trial Registration The protocol is registered in the clinical trial register number ISRCTN47252164

  16. The first karyotype study in palpigrades, a primitive order of arachnids (Arachnida: Palpigradi).

    Science.gov (United States)

    Král, Jirí; Kovác, L'ubomír; St'áhlavský, Frantisek; Lonský, Petr; L'uptácik, Peter

    2008-09-01

    Chromosomes of palpigrades (Arachnida: Palpigradi), a rare arachnid order with numerous primitive characters, were studied for the first time. We analysed two species of the genus Eukoenenia, namely E. spelaea and E. mirabilis. Their karyotypes are uniform, consisting of a low number of tiny chromosomes that decrease gradually in size. Study of the palpigrade karyotype did not reveal morphologically differentiated sex chromosomes. Analysis of E. spelaea showed that constitutive heterochromatin is scarce, GC-rich, and restricted mostly to presumed centromeric regions. Meiosis is remarkable for the presence of a short diffuse stage and prominent nucleolar activity. During prophase I, nuclei contain a large nucleolus. Prominent knob at the end of one bivalent formed by constitutive heterochromatin is associated to the nucleolus by an adjacent NOR. Presence of a nucleolus-like body at male prophase II suggests activity of NOR also during beginning of the second meiotic division. The data suggest acrocentric morphology of palpigrade chromosomes. Palpigrades do not display holocentric chromosomes which appear to be apomorphic features of a number of arachnid groups. These are: acariform mites, buthid scorpions, and spiders of the superfamily Dysderoidea. Therefore, cytogenetic data do not support a close relationship of palpigrades and acariform mites as suggested previously.

  17. Karyotypic evolution of ribosomal sites in buffalo subspecies and their crossbreed

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    Tiago Marafiga Degrandi

    2014-06-01

    Full Text Available Domestic buffaloes are divided into two group based on cytogenetic characteristics and habitats: the "river buffaloes" with 2n = 50 and the "swamp buffaloes", 2n = 48. Nevertheless, their hybrids are viable, fertile and identified by a 2n = 49. In order to have a better characterization of these different cytotypes of buffaloes, and considering that NOR-bearing chromosomes are involved in the rearrangements responsible for the karyotypic differences, we applied silver staining (Ag-NOR and performed fluorescent in situ hybridization (FISH experiments using 18S rDNA as probe. Metaphases were obtained through blood lymphocyte culture of 21 individuals, including river, swamp and hybrid cytotypes. Ag-NOR staining revealed active NORs on six chromosome pairs (3p, 4p, 6, 21, 23, 24 in the river buffaloes, whereas the swamp buffaloes presented only five NOR-bearing pairs (4p, 6, 20, 22, 23. The F1 crossbreed had 11 chromosomes with active NORs, indicating expression of both parental chromosomes. FISH analysis confirmed the numerical divergence identified with Ag-NOR. This result is explained by the loss of the NOR located on chromosome 4p in the river buffalo, which is involved in the tandem fusion with chromosome 9 in this subspecies. A comparison with the ancestral cattle karyotype suggests that the NOR found on the 3p of the river buffalo may have originated from a duplication of ribosomal genes, resulting in the formation of new NOR sites in this subspecies.

  18. Evidence of separate karyotype evolutionary pathway in Euglossa orchid bees by cytogenetic analyses

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    ANDERSON FERNANDES

    2013-09-01

    Full Text Available Euglossini are solitary bees considered important pollinators of many orchid species. Information regarding chromosome organization is available for only a small number of species in this group. In the present work, the species Euglossa townsendi and E. carolina were analyzed by cytogenetic techniques to collect information that may aid the understanding of their evolution and chromosomal organization. The chromosome number found was n = 21 for males and 2n = 42 for females in the two species. The distribution and amount of heterochromatin regions differed in the two species analyzed, where they were classified as “high” or “low” heterochromatin content, similarly to what has already been performed in social bee species of the genus Melipona. Banding patterns found in this study suggest that other mechanisms may have occurred in the karyotype evolution of this group, unlike those suggested for social bees and ants. Karyotype evolution of solitary bees appears to have occurred as an event separate from other hymenopterans and did not involve chromosome fissions and heterochromatin amplification.

  19. Banded karyotype of the Konya wild sheep (Ovis orientalis anatolica Valenciennes, 1856 from Turkey

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    Jan Zima

    2011-07-01

    Full Text Available The karyotype, C-banding, and nucleoar organizer regions (NORs of eight specimens of Konya wild sheep from Turkey were examined. The complement included six large metacentric autosomes, 46 acrocentric autosomes of decreasing size, a medium-sized acrocentric X chromosome, and a small bi-armed Y chromosome (the diploid chromosome number 2n=54, the number of autosomal arms NFa=58, the number of chromosome arms NF=61. G-banding allowed reliable identification of all the chromosome pairs and the pairing of homologous elements. All the autosomes possessed distinct centromeric or pericentromeric C-positive bands. The X chromosome had a pericentromeric C-positive band, and the Y chromosome was entirely C-heterochromatic. The NORs were located in the terminal regions of the long arms of three metacentric and two acrocentric autosomes. The karyotype of the Konya wild sheep and its banding patterns are quite similar to chromosome complement reported in domestic sheep and European mouflon.

  20. A review of metaphase chromosome image selection techniques for automatic karyotype generation.

    Science.gov (United States)

    Arora, Tanvi; Dhir, Renu

    2016-08-01

    The karyotype is analyzed to detect the genetic abnormalities. It is generated by arranging the chromosomes after extracting them from the metaphase chromosome images. The chromosomes are non-rigid bodies that contain the genetic information of an individual. The metaphase chromosome image spread contains the chromosomes, but these chromosomes are not distinct bodies; they can either be individual chromosomes or be touching one another; they may be bent or even may be overlapping and thus forming a cluster of chromosomes. The extraction of chromosomes from these touching and overlapping chromosomes is a very tedious process. The segmentation of a random metaphase chromosome image may not give us correct and accurate results. Therefore, before taking up a metaphase chromosome image for analysis, it must be analyzed for the orientation of the chromosomes it contains. The various reported methods for metaphase chromosome image selection for automatic karyotype generation are compared in this paper. After analysis, it has been concluded that each metaphase chromosome image selection method has its advantages and disadvantages.

  1. Chromosomes and karyotype analysis of a liver fluke, Opisthorchis viverrini, by scanning electron microscopy.

    Science.gov (United States)

    Kaewkong, Worasak; Choochote, Wej; Kanla, Pipatpong; Maleewong, Wanchai; Intapan, Pewpan M; Wongkham, Sopit; Wongkham, Chaisiri

    2012-09-01

    Opisthorchis viverrini, a human liver fluke, has been categorized as the carcinogenic organism according to the strong association with carcinogenesis of cholangiocarcinoma (CCA). The infection of this food-borne parasite is a major impact on the health of humans, especially CCA patients in the northeast of Thailand. Taxonomy, morphology, epidemiology and molecular study of O. viverrini have been publicized increasingly but the precise karyotypic study is still incomplete. In this study, the chromosomes of O. viverrini were prepared from the testes of adult worms retrieved from metacercariae infected-hamsters. The chromosomes of O. viverrini were identified in haploid (n=6) meiotic metaphase and in diploid (2n=12) mitotic metaphase by light microscopy. The chromosome number, length and nomenclature of each chromosome were determined by scanning electron microscopy. The six chromosomes consist of one large-sized metacentric, one medium-sized metacentric, two small-sized metacentric, one small-sized submetacentric and one small-sized acrocentric chromosomes with the lengths of 2.84±0.03, 2.12±0.10, 1.71±0.13, 1.44±0.04, 1.23±0.03 and 0.84±0.13 μm, respectively. This is the first karyotype analysis of O. viverrini with defined complete nomenclature.

  2. Differential staining and microchromosomal variation in karyotypes of four Brazilian species of Tupinambinae lizards (Squamata: Teiidae).

    Science.gov (United States)

    dos Santos, Rodrigo Marques Lima; Rodrigues, Miguel Trefaut; Yonenaga-Yassuda, Yatiyo; Pellegrino, Katia Cristina Machado

    2008-11-01

    Kayotypes of four neotropical teiid lizard species (Tupinambinae) were herein studied after conventional as well as silver staining and CBG-banding: Crocodilurus amazonicus (2n = 34), Tupinambis teguixin (2n = 36), Tupinambis merianae and Tupinambis quadrilineatus (2n = 38). The karyological data for T. quadrilineatus as well as those obtained using differential staining for all species were unknown until now. The karyotypes of all species presented 12 macrochromosomes identical in morphology, but differed in the number of microchromosomes: 22 in C. amazonicus, 24 in T. teguixin and 26 in T. quadrilineatus and T. merianae. The Ag-NOR located at the secondary constriction at the distal end of pair 2 is shared by all species, contrasting with the variability observed for this character in species of the related Teiinae. CBG-banding revealed a species-specific pattern in T. quadrilineatus with conspicuous interstitial C-blocks at the proximal region of the long arm of pair 4 and the whole heterochromatic short arm of pair 6. The karyological data reported here corroborates the relationship hypothesis obtained for Tupinambis based on molecular characters. T. teguixin presents the putative ancestral karyotype for the genus with 2n = 36 whereas T. merianae and T. quadrilineatus exhibit 2n = 38, due to an additional pair of microchromosomes.

  3. Evidence of Chromosomal Instability in Prostate Cancer Determined by Spectral Karyotyping (SKY and Interphase FISH Analysis

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    Ben Beheshti

    2001-01-01

    Full Text Available The way in which cytogenetic aberrations develop in prostate cancer (Cap is poorly understood. Spectral karyotype (SKY analysis of Cap cell lines has shown that they have unstable karyotypes and also have features associated with chromosomal instability (CIN. To accurately determine the incidence of de novo structural and numerical aberrations in vitro in Cap, we performed SKY analysis of three independent clones derived from one representative cell line, DU145. The frequent generation of new chromosomal rearrangements and a wide variation in the number of structural aberrations within two to five passages suggested that this cell line exhibited some of the features associated with a CIN phenotype. To study numerical cell-to-cell variation, chromosome 8 aneusomy was assessed in the LNCaP, DU145, and PC-3 cell lines and a patient cohort of 15 Cap primary tumors by interphase fluorescence in situ hybridization (FISH. This analysis showed that a high frequency of numerical alteration affecting chromosome 8 was present in both in vitro and in Cap tissues. In comparison to normal controls, the patient cohort had a statistically significant (P<.05, greater frequency of cells with one and three centromere 8 copies. These data suggest that a CIN-like process may be contributing towards the generation of de novo numerical and structural chromosome abnormalities in Cap.

  4. A C-banded karyotype of mitotic chromosomes in diploid purple coneflower (Echinacea purpurea L.).

    Science.gov (United States)

    Jiang, Weizhen; Li, Qingling; Chen, Xiaolu; Ren, Yi; Chen, Rong; Wu, Hong; Yang, Yuesheng

    2016-01-01

    Aneuploid ermpglasm is an important resource for genetic studies and identification of individual chromosomes in the cells of the aneuploid is an important step. The karyotype has already been established for purple coneflower (Echinacea purpurea L.), but due to the high similarity in the morphology of several pairs of chromosomes in this species, it cannot be used to identify individual chromosomes in its own complement. The objectives of this study are to develop and evaluate the Giemsa C-banding technique for the purpose of identifying the individual chromosomes in Echinacea purpurea. The established karyotype with C-bands showed that all the 11 pairs of chromosomes possessed centromeric bands. Telomeric bands appeared most frequently in almost all the chromosomes with only two exceptions, the short arm of the chromosome 9 and the long arm of the chromosome 10. Intercalary bands were found mainly in the long arm of some chromosomes with only two exceptions, the chromosomes 1 and 2 that had intercalary bands on both arms. The chromosome 4 was the only chromosome where intercalary bands were absent. Chromosomes in E. purpurea could be stained with Giemsa to bear C-bands. By classifying the chromosomes into groups and judging the C-bands, each chromosome could be identified. The methods established in this study might be used for the identification of chromosome constitution in aneuploid E. purpurea created in a breeding program.

  5. The karyotype of three Brazilian Terrarana frogs (Amphibia, Anura with evidence of a new Barycholos species

    Directory of Open Access Journals (Sweden)

    Sérgio Siqueira

    2009-01-01

    Full Text Available A recent substantial rearrangement of the 882 described eleutherodactyline frog species has considerably improved the understanding of their systematics. Nevertheless, many taxonomic aspects of the South American eleutherodactyline species remain unknown and require further investigation using morphological, cytogenetic and molecular approaches. In this work, the karyotypes of the Brazilian species Ischnocnema juipoca (Atibaia and Campos do Jordão, SP, Barycholos cf. ternetzi (Uberlândia, MG, and Porto Nacional, TO, and Pristimantis crepitans (Chapada dos Guimarães and São Vicente, MT were analyzed using Giemsa staining, Ag-NOR labeling, and C-banding techniques. All individuals had a diploid number of 22 chromosomes, but the Fundamental Numbers were different among species. The herein described low chromosome number of Pristimantis crepitans is unique within this genus, suggesting that cytogenetically this species is not closely related either to its congeneric species or to Ischnocnema. In addition, karyotype differences, mainly in the NOR position, clearly distinguished the two Barycholos populations, besides indicating the existence of a so far undescribed species in this genus. A taxonomic review could clarify the systematic position of P. crepitans and verify the hypothetic new Barycholos species.

  6. The Karyotypes,C-banding Patterns and AgNORs of Epinephelus malabaricus

    Institute of Scientific and Technical Information of China (English)

    Zou Jixing(邹记兴); Hu Chaoqun; Xiang Wenzhou; Yu Qixing; Zhou Fei

    2004-01-01

    The chromosome specimens of Epinephelus malabaricus (Bloch & Schneider, 1801) are obtained from metaphase of kindney cell by vivi-injection of PHA and culture of colchicines, hypatoic-air drying technique, and then by studying their Giemsa stain, C-bands and AgNORs. The results are as follows: (1)E. malabaricus has a diploid chromosome number of 48 and its karyotype formula is 48t, NF=48, sex chromosome is not found. (2) There is a pair of chromosomes with secondary constriction near the centromere of chromosome t24. (3) 1~4 nucleoli appear in the nucleus of interphase, 55% nuclei has 1 nucleolus and only 2% for 4 nucleoli. (4) AgNORs appear in the chromosome t24 of 50% metaphase, sometimes in the chromosome t5, but not in other chromosomes. (5) The AgNORs polymorphisms are individually specific, 1~4 pairs of the number, and the frequency of 4 AgNORs are lowest. (6) The secondary constrictions and positive C-bands are coincident, close to the centromere of the chromosome, and mass constrictive heterochromatins appear in that region. (7) All the centromeres of chromosomes are darkly stained C-bands, and the whole arm of chromosome t24 and its centromere are same positive C-bands. (8) The evolutive regulation of the karyotype and the developing mechanism of AgNORs and C-bands are discussed.

  7. Scaling Chromosomes for an Evolutionary Karyotype: A Chromosomal Tradeoff between Size and Number across Woody Species.

    Science.gov (United States)

    Liang, Guolu; Chen, Hong

    2015-01-01

    This study aims to examine the expected scaling relationships between chromosome size and number across woody species and to clarify the importance of the scaling for the maintenance of chromosome diversity by analyzing the scaling at the inter- & intra-chromosomal level. To achieve for the goals, chromosome trait data were extracted for 191 woody species (including 56 evergreen species and 135 deciduous species) from the available literature. Cross-species analyses revealed a tradeoff among chromosomes between chromosome size and number, demonstrating there is selective mechanism crossing chromosomes among woody species. And the explanations for the result were presented from intra- to inter-chromosome contexts that the scaling may be compromises among scale symmetry, mechanical requirements, and resource allocation across chromosomes. Therein, a 3/4 scaling pattern was observed between total chromosomes and m-chromosomes within nucleus which may imply total chromosomes may evolve from more to less. In addition, the primary evolutionary trend of karyotype and the role of m-chromosomes in the process of karyotype evolution were also discussed.

  8. Tetraploid partial hydatidiform moles: two cases with a triple paternal contribution and a 92,XXXY karyotype.

    Science.gov (United States)

    Surti, U; Szulman, A E; Wagner, K; Leppert, M; O'Brien, S J

    1986-01-01

    In the course of a systematic study of cytogenetics, morphology, and clinical follow-up of hydatidiform moles we encountered two unusual cases of partial hydatidiform moles each with a 92,XXXY karyotype. Previously reported cases of tetraploidy, of 92,XXXX or 92,XXYY karyotype, resulted from a failure of the first mitotic division of a normal zygote. This is to our knowledge the first report of tetraploidy with XXXY sex chromosomes. Study of chromosomal heteromorphisms, isozymes, and restriction fragment length polymorphisms reveal that both present cases resulted from a combination of a haploid ovum with three haploid sets of paternal chromosomes either by the mechanism of trispermy (involving three separate haploid spermatozoa) or through dispermy (involving one haploid and one diploid sperm). Both cases resembled closely partial moles in their morphology; one gave a highly typical clinical picture while the other was recognized at an early voluntary abortion. Partial moles are ordinarily triploids of nearly always diandric constitution that evince focal villous swelling with cistern formation and focal trophoblastic hyperplasia. The findings here presented point to an association of molar phenotype with an excess of paternal over maternal haploid sets.

  9. The mosaic of ancestral karyotype blocks in the Sinapis alba L. genome.

    Science.gov (United States)

    Nelson, Matthew N; Parkin, Isobel A P; Lydiate, Derek J

    2011-01-01

    The organisation of the Sinapis alba genome, comprising 12 linkage groups (n = 12), was compared with the Brassicaceae ancestral karyotype (AK) genomic blocks previously described in other crucifer species. Most of the S. alba genome falls into conserved triplicated genomic blocks that closely match the AK-defined genomic blocks found in other crucifer species including the A, B, and C genomes of closely related Brassica species. In one instance, an S. alba linkage group (S05) was completely collinear with one AK chromosome (AK1), the first time this has been observed in a member of the Brassiceae tribe. However, as observed for other members of the Brassiceae tribe, ancestral genomic blocks were fragmented in the S. alba genome, supporting previously reported comparative chromosome painting describing rearrangements of the AK karyotype prior to the divergence of the Brassiceae from other crucifers. The presented data also refute previous phylogenetic reports that suggest S. alba was more closely related to Brassica nigra (B genome) than to B. rapa (A genome) and B. oleracea (C genome). A comparison of the S. alba and Arabidopsis thaliana genomes revealed many regions of conserved gene order, which will facilitate access to the rich genomic resources available in the model species A. thaliana for genetic research in the less well-resourced crop species S. alba.

  10. Karyotype composition of some rodents and marsupials from Chapada Diamantina (Bahia, Brasil

    Directory of Open Access Journals (Sweden)

    LG. Pereira

    Full Text Available The Chapada Diamantina (CD is located in Bahia State, between 11-14° S and 41-43° W, being part of the Serra do Espinhaço. The occurrence of different habitats and transition areas permits an interesting mammal fauna composition, with species from different biomes living in sympatry. Species of Didelphimorphia and Rodentia are important members of mammal communities in almost all different habitats, and morphological and cytogenetic characters are important for a correct identification of most of these species. In this work 258 specimens of small mammals from the orders Didelphimorphia (six genera and six species and Rodentia (two families, five Sigmodontinae tribes, nine genera and 11 species were collected during the whole field work (44 nights with traps. Chromosome preparations were obtained from 145 specimens from the species: Marmosops incanus, Gracilinanus microtarsus, Monodelphis domestica, Akodon aff. cursor, Necromys lasiurus, Cerradomys sp., Oligoryzomys fornesi, O. nigripes, O. rupestris, Calomys expulsus, Rhipidomys macrurus, Wiedomys pyrrhorhinus and Thrichomys inermis. Didelphis albiventris, Micoureus demerarae, Thylamys karymii and Nectomys sp. were identified by morphological characters. Most analyzed specimens do not show karyotype variation. However, numerical chromosomic variation was found in two individuals of Akodon aff. cursor (2n = 15 and in one individual of Cerradomys sp. (2n = 51. Structural variation in karyotype was observed in seven individuals of Cerradomys sp., showing one additional pair of metacentric chromosomes.

  11. Deoxyribonucleic acid damage study in primary amenorrhea by comet assay and karyotyping

    Directory of Open Access Journals (Sweden)

    Sarah Ramamurthy

    2013-01-01

    Full Text Available Aim: This study aims at evaluating the chromosomal abnormalities and deoxyribonucleic acid (DNA damage in cases with primary amenorrhea by karyotyping and comet assay. Study Design: A total of 30 cases of primary amenorrhea were recruited. Secondary sexual characters were assessed by Tanner staging. Chromosomal analysis was performed by conventional phytohemagglutinin stimulated lymphocyte cell culture technique. Alkaline version of comet assay was used to evaluate DNA damage. Results: The chromosomal pattern of 20 subjects (66.7% was found to be normal (46,XX. Two subjects had 46,XY pattern and eight subjects had Turner syndrome (45,X or 45,X/46,XX. The comet parameters were found to be increased among subjects with 45,X monosomy, when compared to the rest of the study group and also in subjects with Tanner stage 1 when compared to stage 2. Conclusion: Comet assay revealed increased DNA damage in cases with 45,X monosomy, compared with subjects with 46,XX and 46,XY karyotype, which correlated with clinical features.

  12. Characterization of nuclear compartments identified by ectopic markers in mammalian cells with distinctly different karyotype.

    Science.gov (United States)

    Scheuermann, Markus O; Murmann, Andrea E; Richter, Karsten; Görisch, Sabine M; Herrmann, Harald; Lichter, Peter

    2005-05-01

    The functional organization of chromatin in cell nuclei is a fundamental question in modern cell biology. Individual chromosomes occupy distinct chromosome territories in interphase nuclei. Nuclear bodies localize outside the territories and colocalize with ectopically expressed proteins in a nuclear subcompartment, the interchromosomal domain compartment. In order to investigate the structure of this compartment in mammalian cells with distinctly different karyotypes, we analyzed human HeLa cells (3n+ = 71 chromosomes) and cells of two closely related muntjac species, the Chinese muntjac (2n = 46 chromosomes) and the Indian muntjac (2n = 6/7 chromosomes). The distribution of ectopically expressed intermediate filament proteins (vimentin and cytokeratins) engineered to contain a nuclear localization sequence (NLS) and a nuclear particle forming protein (murine Mx1) fused to a yellow fluorescent protein (YFP) was compared. The proteins were predominantly localized in regions with poor DAPI staining independent of the cells' karyotype. In contrast to NLS-vimentin, the NLS-modified cytokeratins were also found close to the nuclear periphery. In Indian muntjac cells, NLS-vimentin colocalized with Mx1-YFP as well as the NLS-cytokeratins. Since the distribution of the ectopically expressed protein markers is similar in cells with distinctly different chromosome numbers, the property of the delineated, limited compartment might indeed depend on chromatin organization.

  13. Analysis of horse genomes provides insight into the diversification and adaptive evolution of karyotype.

    Science.gov (United States)

    Huang, Jinlong; Zhao, Yiping; Shiraigol, Wunierfu; Li, Bei; Bai, Dongyi; Ye, Weixing; Daidiikhuu, Dorjsuren; Yang, Lihua; Jin, Burenqiqige; Zhao, Qinan; Gao, Yahan; Wu, Jing; Bao, Wuyundalai; Li, Anaer; Zhang, Yuhong; Han, Haige; Bai, Haitang; Bao, Yanqing; Zhao, Lele; Zhai, Zhengxiao; Zhao, Wenjing; Sun, Zikui; Zhang, Yan; Meng, He; Dugarjaviin, Manglai

    2014-05-14

    Karyotypic diversification is more prominent in Equus species than in other mammals. Here, using next generation sequencing technology, we generated and de novo assembled quality genomes sequences for a male wild horse (Przewalski's horse) and a male domestic horse (Mongolian horse), with about 93-fold and 91-fold coverage, respectively. Portion of Y chromosome from wild horse assemblies (3 M bp) and Mongolian horse (2 M bp) were also sequenced and de novo assembled. We confirmed a Robertsonian translocation event through the wild horse's chromosomes 23 and 24, which contained sequences that were highly homologous with those on the domestic horse's chromosome 5. The four main types of rearrangement, insertion of unknown origin, inserted duplication, inversion, and relocation, are not evenly distributed on all the chromosomes, and some chromosomes, such as the X chromosome, contain more rearrangements than others, and the number of inversions is far less than the number of insertions and relocations in the horse genome. Furthermore, we discovered the percentages of LINE_L1 and LTR_ERV1 are significantly increased in rearrangement regions. The analysis results of the two representative Equus species genomes improved our knowledge of Equus chromosome rearrangement and karyotype evolution.

  14. Evidence to support karyotypic variation of the mosquito, Anopheles peditaeniatus in Thailand.

    Science.gov (United States)

    Choochote, Wej

    2011-01-01

    Eight isoline colonies of Anopheles peditaeniatus Leicester (Diptera: Culicidae) were established from wild-caught females collected from buffalo-baited traps at 8 localities in Thailand. They showed 2 types of X (X(2), X(3)) and 4 types of Y (Y(2), Y(3), Y(4), Y(5)) chromosomes based on the number and amount of major block(s) of heterochromatin present in the heterochromatic arm, and were tentatively designated as Forms B (X(2), X(3), Y(2)), C (X(3), Y(3)), D (X(3), Y(4)) and E (X(2), X(3), Y(5)). Form B was found in Nan, Ratchaburi, and Chumphon provinces; Form C was obtained in Chon Buri province; Form D was recovered in Kamphaeng Phet province; and Form E was acquired in Chiang Mai, Udon Thani, and Ubon Ratchathani provinces. Crossing studies among the 8 isoline colonies, which were representative of 4 karyotypic forms of An. peditaeniatus, revealed genetic compatibility in providing viable progenies and synaptic salivary gland polytene chromosomes through F(2)-generations, thus suggesting the conspecific nature of these karyotypic forms. These results were supported by the very low intraspecific sequence variations (0.0 - 1.1%) of the nucleotide sequences in ribosomal DNA (ITS2) and mitochondrial DNA (COI and COII) of the 4 forms.

  15. Variation of morphology, karyotype and protein band pattern of adenium (Adenium obesum varieties

    Directory of Open Access Journals (Sweden)

    PRABANG SETYONO

    2009-07-01

    Full Text Available Hastuti D, Suranto, Setyono P. 2009. Variation of morphology, karyotype and protein band pattern of adenium (Adenium obesum varieties. Nusantara Bioscience 1: 78-83. The aim of this research to find out the Adenium obesum variation from six varieties, namely: obesum, cery, red lucas, red fanta , white bigben and harry potter based on morphology, karyotype, as well as protein banding pattern. The chromosome preparation was made using semi-permanent squash method from the tip of root plant; while protein banding pattern was made using SDS-PAGE method. Qualitative data included shape and color of the leave and flower described from each variety. Data were presented in morphometry and analyzed using ANOVA and then followed by DMRT with 5% of confidence levels, indicated significance difference. Protein banding pattern, the root, stem, leave and all organs were analyzed using Hierarchical Cluster Analysis method with Average Linkage (between Groups using SPSS 10.0. The result of research shows that the six A. obesum varieties have morphological character with no variation of light green to dark green leave, not hairy, smooth leave bone, meanwhile for light red to dark red flower crown color although some of them are white and the same funnel color, yellow. All varieties of A. obesum have same number of chromosome, 2n = 22 and shows the difference ranging from 2.56 to 5.13 um. In the banding pattern formed qualitatively, there is variation among the six varieties.

  16. Karyotyping of Brassica napus L. Based on C0t-1 DNA Banding by Fluorescence In Situ Hybridization

    Institute of Scientific and Technical Information of China (English)

    Wen-Hui WEI; Wan-Peng ZHAO; Li-Jun WANG; Bo CHEN; Yun-Chang LI; Yun-Chun SONG

    2005-01-01

    In order to precisely recognize and karyotype Brassica napus L. chromosomes, C0t- 1 DNA was extracted from its genomic DNA, labeled with biotin- 11-dUTP and in situ hybridized. The hybridized locations were detected by Cy3-conjugated streptavidin. Specific fluorescence in situ hybridization (FISH)signal bands were detected on all individual chromosome pairs. Each chromosome pair showed specific banding patterns. The B. napus karyotype has been constructed, for the first time, on the basis of both C0t-1 DNA FISH banding patterns and chromosome morphology.

  17. Preferential accumulation of sex and Bs chromosomes in biarmed karyotypes by meiotic drive and rates of chromosomal changes in fishes.

    Science.gov (United States)

    Molina, Wagner F; Martinez, Pablo A; Bertollo, Luiz A C; Bidau, Claudio J

    2014-12-01

    Mechanisms of accumulation based on typical centromeric drive or of chromosomes carrying pericentric inversions are adjusted to the general karyotype differentiation in the principal Actinopterygii orders. Here, we show that meiotic drive in fish is also supported by preferential establishment of sex chromosome systems and B chromosomes in orders with predominantly bi-brachial chromosomes. The mosaic of trends acting at an infra-familiar level in fish could be explained as the interaction of the directional process of meiotic drive as background, modulated on a smaller scale by adaptive factors or specific karyotypic properties of each group, as proposed for the orthoselection model.

  18. Karyotypic analyses and morphological comments on the endemic and endangered Brazilian painted tree rat Callistomys pictus (Rodentia, Echimyidae

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    Karen Ventura

    2008-01-01

    Full Text Available The genus Callistomys belongs to the rodent family Echimyidae, subfamily Echimyinae, and its only living representative is Callistomys pictus, a rare and vulnerable endemic species of the state of Bahia, Brazil. Callistomys has been previously classified as Nelomys, Loncheres, Isothrix and Echimys. In this paper we present the karyotype of Callistomys pictus, including CBG and GTG-banding patterns and silver staining of the nucleolus organizer regions (Ag-NORs. Comments on Callistomys pictus morphological traits and a compilation of Echimyinae chromosomal data are also included. Our analyses revealed that Callistomys can be recognized both by its distintinctive morphology and by its karyotype.

  19. Comparison of the Giemsa C-banded and N-banded karyotypes of two Elymus species, E. dentatus and E. glaucescens (Poaceae; Triticeae)

    DEFF Research Database (Denmark)

    Linde-Laursen, I.; Seberg, O.; Salomon, B.

    1994-01-01

    The karyotypes of Elymus dentatus from Kashmir and E. glaucescens from Tierra del Fuego, both carrying genomes S and H, were investigated by C- and N-banding. Both taxa had 2n = 4x = 28. The karyotype of E. dentatus was symmetrical with large chromosomes. It had 18 metacentric, four submetacentric...

  20. Bivariate phase-rectified signal averaging for assessment of spontaneous baroreflex sensitivity: pilot study of the technology.

    Science.gov (United States)

    Bauer, Axel; Morley-Davies, Adrian; Barthel, Petra; Müller, Alexander; Ulm, Kurt; Malik, Marek; Schmidt, Georg

    2010-01-01

    Assessment of spontaneous baroreflex sensitivity (BRS), an index of autonomic function, poses practical challenges. In this pilot study, we propose a novel technique for assessment of spontaneous BRS based on bivariate phase-rectified signal averaging (PRSA). This is an extension of the monovariate PRSA technology used for calculation of deceleration capacity. A prospective, observational study was conducted in a training cohort of 146 patients with heart failure (New York Heart Association class 2.7 ± 0.8, left ventricular ejection fraction 23.6% ± 9.0%) presenting with sinus rhythm. In all patients, 10-minute recordings of ECG and arterial and blood pressure were obtained in the supine resting position. The algorithm for BRS assessment based on bivariate PRSA (BRS(PRSA)) included (1) identification of heartbeat intervals occurring at the time of systolic pressure increases, (2) selection of heartbeat adjacent interval sections, (3) alignment and (4) averaging of these segments, and (5) quantification of the average heart beat interval change by Haar wavelet analysis. Primary end point was death of any cause. During mean follow-up of 2.7 ± 1.1 years, 42 patients (28.8%) died. BRS(PRSA) was significantly associated with the primary end point (3.7 ± 5.3 ms vs -0.33 ± 6.6 ms in survivors and nonsurvivors, respectively). BRS(PRSA) yielded an area under the receiver operating characteristics curve of 69.8% (95% confidence interval, 59.9-79.7), which was comparable to the area under the curve of left ventricular ejection fraction (70.4%; 95% confidence interval, 61.3-79.5). Using the optimum dichotomy for BRS(PRSA) of 1.14 milliseconds, 52 (36%) patients had an abnormal BRS(PRSA). The 3-year mortality risk of these patients was 45.3% compared to 19.0% in patients with normal BRS(PRSA). On multivariate analysis, abnormal BRS(PRSA) was an independent risk factor from left ventricular ejection fraction ≤ 30% and New York Heart Association class > II. BRS(PRSA) is an

  1. Learning from an early start but late end epidemics via an incidence rate restricted bivariate distribution and data analysis

    Directory of Open Access Journals (Sweden)

    Ramalingam Shanmugam

    2015-09-01

    Full Text Available Background: An ideal expectation of public health administrators or field medical workers is to have a late start and quick ending of any epidemic. Instead, when an epidemic starts early but ends late, it is where much can be learned from the incidences. A case in point for discussion in this article is the pattern of 2009 H1N1 epidemic. Methods: With a parameter to portray an existing health environment as a deterrent for an epidemic like H1N1 to outbreak in any location at a week, a bivariate distribution is created and is used to analyze the data for a learning so that it helps to prevent a too long prevailing future epidemic. This new distribution is named Incidence Rate Restricted Bivariate Distribution (IRRBGD. Statistical properties of IRRBGD are derived and illustrated using 2009 H1N1 incidences in all five continental regions (Africa, Asia, Europe, Americas, and Oceanic across on earth. Results: The Asian continent, compared to other four continental regions, had most vulnerability for H1N1 incidences. The odds for no H1N1 to occur is lowest only in Oceanic among the four continental regions, namely Africa, Europe, Americas, and Oceanic. Since the beginning of the year 2009 with 52 weeks, the week number, Y in which the H1N1 appeared first and the number, X of weeks the H1N1 continued on in a region are consistently highly correlated in all five continental regions. Conclusions: From the data analyses of 2009 H1N1 incidences, no continental region is risk free with respect another round of H1N1 epidemic in future. The medical community and public healthcare administrators ought to identify the common and region specific unique deterrents of the epidemic like H1N1. The impact of such deterrents to H1N1 is captured in our model and analysis. By increasing the deterrent level, the outbreak of an epidemic like H1N1 could be delayed, according to our model and data information. [Int J Res Med Sci 2015; 3(9.000: 2181-2189

  2. 二元实值正交周期Box样条小波%Bivariate Real-valued Orthogonal Periodic Box-spline Wavelets

    Institute of Scientific and Technical Information of China (English)

    李强; 梁学章

    2006-01-01

    In this paper, we construct a kind of bivariate real-valued orthogonal periodic box-spline wavelets. There are only 4 terms in the two-scale dilation equations.This implies that the corresponding decomposition and reconstruction algorithms involve only 4 terms respectively which are simple in practical computation. The relation between the periodic wavelets and Fourier series is also discussed.

  3. 一种新形式的二元混合有理插值%New Approach to Bivariate Blending Rational Interpolants

    Institute of Scientific and Technical Information of China (English)

    邹乐; 唐烁

    2011-01-01

    Newton's polynomial interpolation may be the favorite linear interpolation, associated continued fractions interpolation is a new type nonlinear interpolation. We use those two interpolation to construct a new kind of bivariate blending rational interpolants.Characteristic theorem is discussed. We give some new blending interpolation formulae.

  4. Sequential Temporal Dependencies in Associations between Symptoms of Depression and Posttraumatic Stress Disorder: An Application of Bivariate Latent Difference Score Structural Equation Modeling

    Science.gov (United States)

    King, Daniel W.; King, Lynda A.; McArdle, John J.; Shalev, Arieh Y.; Doron-LaMarca, Susan

    2009-01-01

    Depression and posttraumatic stress disorder (PTSD) are highly comorbid conditions that may arise following exposure to psychological trauma. This study examined their temporal sequencing and mutual influence using bivariate latent difference score structural equation modeling. Longitudinal data from 182 emergency room patients revealed level of…

  5. Aquaculture in artificially developed wetlands in urban areas: an application of the bivariate relationship between soil and surface water in landscape ecology.

    Science.gov (United States)

    Paul, Abhijit

    2011-01-01

    Wetlands show a strong bivariate relationship between soil and surface water. Artificially developed wetlands help to build landscape ecology and make built environments sustainable. The bheries, wetlands of eastern Calcutta (India), utilize the city sewage to develop urban aquaculture that supports the local fish industries and opens a new frontier in sustainable environmental planning research.

  6. GIS-Based and Data-Driven Bivariate Landslide-Susceptibility Mapping in the Three Gorges Area, China

    Institute of Scientific and Technical Information of China (English)

    BAI Shi-Biao; WANG Jian; L(U) Guo-Nian; ZHOU Ping-Gen; HOU Sheng-Shan; XU Su-Ning

    2009-01-01

    A detailed landslide-susceptibility map was produced using a data-driven objective bivariate analysis method with datasets developed for a geographic information system (CIS). Known as one of the most landslide-prone areas in China, the Zhongxian-Shizhu Segment in the Three Gorges Reservoir region of China was selected as a suitable case because of the frequency and distribution of landslides. The site covered an area of 260.93 km2 with a landslide area of 5.32 km2. Four data domains were used in this study, including remote sensing products, thematic maps, geological maps, and topographical maps, all with 25 m × 25 m pixels. Statistical relationships for landslide susceptibility were developed using landslide and landslide causative factor databases. All continuous variables were converted to categorical variables according to the percentile divisions of seed cells, and the corresponding class weight values were calculated and summed to create the susceptibility map. According to the map, 3.6% of the study area was identified as high-susceptibility. Extremely low-, very low-, low-, and medium-susceptibility zones covered 19.66%, 31.69%, 27.95%, and 17.1% of the area, respectively. The high- and medium-hazardous zones are along both sides of the Yangtze River, being in agreement with the actual distribution of landslides.

  7. The Pattern of Variation between Diarrhea and Malaria Coexistence with Corresponding Risk Factors in, Chikhwawa, Malawi: A Bivariate Multilevel Analysis.

    Science.gov (United States)

    Masangwi, Salule; Ferguson, Neil; Grimason, Anthony; Morse, Tracy; Kazembe, Lawrence

    2015-07-21

    Developing countries face a huge burden of infectious diseases, a number of which co-exist. This paper estimates the pattern and variation of malaria and diarrhea coexistence in Chikhwawa, a district in Southern Malawi using bivariate multilevel modelling with Bayesian estimation. A probit link was employed to examine hierarchically built data from a survey of individuals (n = 6,727) nested within households (n = 1,380) nested within communities (n = 33). Results show significant malaria [σ²μ₁=0.901 (95% CI:0.746,1.056)] and diarrhea [σ²μ₂=1.009 (95% CI:0.860,1.158)] variations with a strong correlation between them [r(¹,²)μ=0.565] at household level. There are significant malaria [σ²ν₁=0.053 (95% CI: 0.018,0.088)] and diarrhea [σ²ν₂=0.099(95% CI : 0.030,0.168) ] variations at community level but with a small correlation [r(¹,²) ν=0.124] between them. There is also significant correlation between malaria and diarrhea at individual level [ r(¹,²) e=0.241]. These results suggest a close association between reported malaria-like illness and diarrheal illness especially at household and individual levels in Southern Malawi.

  8. Some Improved Estimators of Co-efficient of Variation from Bi-variate normal distribution: A Monte Carlo Comparison

    Directory of Open Access Journals (Sweden)

    Archana V

    2014-05-01

    Full Text Available Co-efficient of variation is a unitless measure of dispersion and is very frequently used in scientific investigations. This has motivated several researchers to propose estimators and tests concerning the co-efficient of variation of normal distribution(s. While proposing a class of estimators for the co-efficient of variation of a finite population, Tripathi et al., (2002 suggested that the estimator of co-efficient of variation of a finite population can also be used as an estimator of C.V for any distribution when the sampling design is SRSWR. This has motivated us to propose 28 estimators of finite population co-efficient of variation as estimators of co-efficient of variation of one component of a bivariate normal distribution when prior information is available regarding the second component. Cramer Rao type lower bound is derived to the mean square error of these estimators. Extensive simulation is carried out to compare these estimators. The results indicate that out of these 28 estimators, eight estimators have larger relative efficiency compared to the sample co-efficient of variation. The asymptotic mean square errors of the best estimators are derived to the order of  for the benefit of users of co-efficient of variation.

  9. Technology-enhanced Interactive Teaching of Marginal, Joint and Conditional Probabilities: The Special Case of Bivariate Normal Distribution.

    Science.gov (United States)

    Dinov, Ivo D; Kamino, Scott; Bhakhrani, Bilal; Christou, Nicolas

    2013-01-01

    Data analysis requires subtle probability reasoning to answer questions like What is the chance of event A occurring, given that event B was observed? This generic question arises in discussions of many intriguing scientific questions such as What is the probability that an adolescent weighs between 120 and 140 pounds given that they are of average height? and What is the probability of (monetary) inflation exceeding 4% and housing price index below 110? To address such problems, learning some applied, theoretical or cross-disciplinary probability concepts is necessary. Teaching such courses can be improved by utilizing modern information technology resources. Students' understanding of multivariate distributions, conditional probabilities, correlation and causation can be significantly strengthened by employing interactive web-based science educational resources. Independent of the type of a probability course (e.g. majors, minors or service probability course, rigorous measure-theoretic, applied or statistics course) student motivation, learning experiences and knowledge retention may be enhanced by blending modern technological tools within the classical conceptual pedagogical models. We have designed, implemented and disseminated a portable open-source web-application for teaching multivariate distributions, marginal, joint and conditional probabilities using the special case of bivariate Normal distribution. A real adolescent height and weight dataset is used to demonstrate the classroom utilization of the new web-application to address problems of parameter estimation, univariate and multivariate inference.

  10. Increased basal and pulsatile secretion of FSH and LH in young men with 47,XXY or 46,XX karyotypes

    DEFF Research Database (Denmark)

    Aksglaede, L.; Jensen, Rikke Bodin Beck; Carlsen, E.;

    2008-01-01

    basal, pulsatile, and total LH and FSH secretion were associated with significantly more LH peaks per 24 h in comparison with healthy controls. Thus, our data indicate that in patients with Klinefelter syndrome and XX male karyotypes the entire hypothalamic-pituitary-gonadal axis has undergone...

  11. 46,XX, der(15,t(Y;15(q12;p11 karyotype in an azoospermic male

    Directory of Open Access Journals (Sweden)

    Serap T Onrat

    2012-01-01

    Full Text Available We report on a Yq/15p translocation in a 23-year-old infertile male referred for Klinefelter Syndrome testing, who had azoospermia and bilateral small testes. Hormonal studies revealed hypergonadotropic hypogonadism. Conventional cytogenetic procedures giemsa trypsin giemsa (GTG and high resolution banding (HRB and molecular cytogenetic techniques Fluorescence In Situ Hybridization (FISH performed on high-resolution lymphocyte chromosomes revealed the karyotype 46,XX, t(Y;15(q12;p11. SRY-gene was confirmed to be present by classical Polymerase Chain Reaction (PCR methods. His father carried de novo derivative chromosome 15 [45,X, t(Y;15(q12;p11] and was fertile; the karyotype of the father using G-band technique confirmed a reciprocal balanced translocation between chromosome Y and 15. In the proband, the der (15 has been inherited from the father because the mother had a normal karyotype (46,XX. In the proband, the der (15 could have produced genetic imbalance leading to unbalanced robertson translocation between chromosome Y and 15, which might have resulted in azoospermia and infertility in the proband. The paternal translocation might have lead to formation of imbalanced ova, which might be resulted infertility in the proband. Sister′s karyotypes was normal (46,XX while his brother was not analyzed.

  12. Electrophoretic and cytological karyotyping of the foliar wheat pathogen Mycosphaerella graminicola reveals many chromosomes with a large size range

    NARCIS (Netherlands)

    Mehrabi, R.; Taga, M.; Kema, G.H.J.

    2007-01-01

    The karyotypes of three isolates of Mycosphaerella graminicola, the septoria tritici blotch pathogen of wheat, were analyzed with both pulsed field gel electrophoresis (PFGE) and the cytological technique called germ tube burst method (GTBM). These analyses revealed a chromosome length polymorphism

  13. C-Banding/DAPI and in situ hybridization reflect karyotype structure and sex chromosome differentiation in Humulus japonicus Siebold & Zucc.

    Science.gov (United States)

    Grabowska-Joachimiak, A; Mosiolek, M; Lech, A; Góralski, G

    2011-01-01

    Japanese hop (Humulus japonicus Siebold & Zucc.) was karyotyped by chromosome measurements, fluorescence in situ hybridization with rDNA and telomeric probes, and C-banding/DAPI. The karyotype of this species consists of sex chromosomes (XX in female and XY1Y2 in male plants) and 14 autosomes difficult to distinguish by morphology. The chromosome complement also shows a rather monotonous terminal distribution of telomeric repeats, with the exception of a pair of autosomes possessing an additional cluster of telomeric sequences located within the shorter arm. Using C-banding/DAPI staining and 5S and 45S rDNA probes we constructed a fluorescent karyotype that can be used to distinguish all autosome pairs of this species except for the 2 largest autosome pairs, lacking rDNA signals and having similar size and DAPI-banding patterns. Sex chromosomes of H. japonicus display a unique banding pattern and different DAPI fluorescence intensity. The X chromosome possesses only one brightly stained AT-rich terminal segment, the Y1 has 2 such segments, and the Y2 is completely devoid of DAPI signal. After C-banding/DAPI, both Y chromosomes can be easily distinguished from the rest of the chromosome complement by the increased fluorescence of their arms. We discuss the utility of these methods for studying karyotype and sex chromosome evolution in hops.

  14. The karyotype of Festucopsis serpentini (Poaceae Triticeae) from Albania studied by banding techniques and in situ hybridization

    DEFF Research Database (Denmark)

    Linde-Laursen, I.; Seberg, O.; Frederiksen, S.;

    1996-01-01

    The karyotypes of two populations of Festucopsis serpentini (2n = 2x = 14) endemic to Albania were investigated in detail by Giemsa C- and N-banding, AgNO3 staining, and in situ hybridization with an rDNA probe. The complements consisted of 14 large chromosomes, 10 metacentric and 4 SAT-chromosom...

  15. Karyotype-specific ear and hearing problems in young adults with turner syndrome and the effect of oxandrolone treatment

    NARCIS (Netherlands)

    Verver, E.J.; Freriks, K.; Sas, T.C.J.; Huygen, P.L.M.; Pennings, R.J.E.; Smeets, D.F.C.M.; Hermus, A.R.M.M.; Menke, L.A.; Wit, J.M.; Otten, B.J.; Velden, J.A.M. van der; Keizer-Schrama, S.M.; Topsakal, V.; Admiraal, R.J.C.; Timmers, H.J.L.M.; Kunst, H.P.M.

    2014-01-01

    OBJECTIVE: To evaluate karyotype-specific ear and hearing problems in young-adult patients with Turner syndrome (TS) and assess the effects of previous treatment with oxandrolone (Ox). STUDY DESIGN: Double-blind follow-up study. SETTING: University hospital. PATIENTS: Sixty-five TS patients (mean ag

  16. Individualized choice in prenatal diagnosis : the impact of karyotyping and standalone rapid aneuploidy detection on quality of life

    NARCIS (Netherlands)

    Boormans, E. M. A.; Birnie, E.; Oepkes, D.; Boekkooi, P. F.; Bonsel, G. J.; van Lith, J. M. M.

    2010-01-01

    Objective To assess the reasons and perceptions of women who are offered a choice between karyotyping and standalone rapid aneuploidy detection (RAD) and to compare the impact of both tests on anxiety and health-related quality of life Methods In this prospective comparative study, women undergoing

  17. Individualized choice in prenatal diagnosis : the impact of karyotyping and standalone rapid aneuploidy detection on quality of life

    NARCIS (Netherlands)

    Boormans, E. M. A.; Birnie, E.; Oepkes, D.; Boekkooi, P. F.; Bonsel, G. J.; van Lith, J. M. M.

    2010-01-01

    Objective To assess the reasons and perceptions of women who are offered a choice between karyotyping and standalone rapid aneuploidy detection (RAD) and to compare the impact of both tests on anxiety and health-related quality of life Methods In this prospective comparative study, women undergoing

  18. Karyotype characterization and nucleolar organizer regions of marsupial species (Didelphidae from areas of Cerrado and Atlantic Forest in Brazil

    Directory of Open Access Journals (Sweden)

    Núbia P. Pereira

    2008-01-01

    Full Text Available The karyotypes of 23 specimens belonging to 16 species from nine genera of Brazilian marsupials (family Didelphidae were studied. The animals were collected in eight localities of Cerrado or Atlantic Forest biomes in the states of Goiás, Tocantins and São Paulo. The karyotypes were analyzed after conventional Giemsa staining and silver staining of the nucleolus organizer regions (Ag-NORs. New karyotypic data were obtained for Gracilinanus microtarsus (2n = 14, FN = 24, Marmosops paulensis (2n = 14, FN = 24 , Micoreus paraguayanus (2n = 14, FN = 20 and Monodelphis rubida (2n = 18, FN = 32 and are discussed in detail. The karyotypes of G. microtarsus , M. paulensis and M. paraguayanus include three large pairs of submetacentrics (pairs 1, 2 and 3 and a medium-sized metacentric or submetacentric pair 4. Pairs 5 and 6 are small submetacentrics in G. microtarsus and M. paulensis and acrocentrics in M. paraguayanus . M. paulensis presented a single Ag-NOR in pair 6 (6p6p, while M. paraguayanus exhibited multiple Ag-NORs in pairs 5 and 6 (5pq5pq6p6p. There was variation in size and morphology of the sex chromosomes among these species. Monodelphis rubida presented a karyotype with 2n = 18 and FN = 32 composed of a large submetacentric pair 1, a medium-sized metacentric pair 2 and six pairs of submetacentrics (pairs 3 through 8. The X was a small acrocentric and the Y was dot-like. A single Ag-NOR bearing pair (5p5p characterized M. rubida. Relevant karyotypic information was obtained for 19 specimens belonging to 12 species collected in areas sampled for the first time [ Caluromys lanatus and C. philander (2n = 14, FN = 20, Gracilinanus emiliae (2n = 14, FN = 24, Marmosa murina , Metachirus nudicaudatus and Micoureus demerarae (2n = 14, FN = 20, Monodelphis americana (2n = 18, FN = 32 and M. domestica (2n = 18, FN = 20, and Didelphis marsupialis, Philander frenata, P. opossum and P. sp (2n = 22, FN = 20]. Although the karyotypes were relatively

  19. [The influence of substrate from extracellular matrix proteins on karyotypic variability of the Indian muntjac skin fibroblast two cell lines].

    Science.gov (United States)

    Polianskaia, G G; Kol'tsova, A M

    2013-01-01

    The effect of cell culture conditions on numerical and structural karyotypic variability was investigated in two Indian muntjac skin fibroblast "markerless" cell lines, M and MT. The cells cultivated on the substrate consisting of extracellular matrix proteins (ECM), synthesized by human mesenchymal stem cells (SC5-MSC). The character of cell distribution for chromosome number of cell line M changed after cultivation for 1 and 4 days as compared to control cells, which were cultured on hydrophilic surface without ECM-coating. These changes involve a significant decrease in frequency of cells with modal numbers of chromosomes and an increase in frequency of cells with lower chromosome numbers. Many new types of additional structural variants of the karyotype (SVK) appear. MT cell line, differing from M line in the number of homologous chromosomes, demonstrated similar with M line the character of cell distribution for chromosome number only for 1 day after cultivating on the ECM-substrate, but not after 4 days in the same culture conditions, no difference from the control cells was observed. The observed alterations seem to be due to disturbances in correct chromosome segregation process, which were caused by abrupt shift in the cell culture conditions. The analysis of the structural karyotypic variability revealed significant increase in frequency of chromosomal aberrations in M cell line for 1 and 4 days in culture on the ECM-substrate as compared to the control cells. The frequency of dicentric chromosomes (telomeric associations) was increased and constituted more than 50% of all chromosome aberrations. No increase in frequency of chromosome aberrations was observed for MT cells cultured in the same conditions. The obtained results show that the cell lines of the same origin but of different karyotypic structure react to substrate in a different way. In contrast to M line, in MT line a fast normalization of numerical karyotypic characteristics and no enhancement

  20. The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problem.

    Science.gov (United States)

    Smigiel, Robert; Pilch, Jacek; Makowska, Izabela; Busza, Halina; Slezak, Ryszard; Sasiadek, Maria M

    2008-09-01

    The Pallister-Killian syndrome is a clinically recognizable syndrome, usually due to a tissue-specific mosaicism for a 12p isochromosome [i(12p)]. We report a rare case of Pallister-Killian syndrome with 12p mosaicism, tetrasomy/trisomy/disomy in fibroblasts and trisomy/disomy in lymphocytes. Marker chromosomes were investigated with conventional cytogenetic techniques and fluorescent in situ hybridisation (FISH). The karyotype was established as: mos47,XX,+12p/47,XX,+i(12p)/46,XX. The cytogenetic result of the extra mosaic 12p presented in lymphocytes suggested the diagnosis of trisomy 12p, although, in combination with clinical manifestations, the Pallister-Killian syndrome was considered and confirmed by the cytogenetic analysis of fibroblasts.

  1. Optimasi Penambahan Colcemid pada Karyotyping Kultur Mecenchymal Stem Cells (MSC Mencit

    Directory of Open Access Journals (Sweden)

    Ratih Rinendyaputri

    2016-02-01

    Full Text Available AbstractControl of the genetic stability of stem cells prior to the conduct of therapy is essential to prevent effects such as stem cell transformation. Karyotyping is a conventional technique to conduct an analysis of the number and structure of chromosomes. The analysis can only be performed on metaphase stage that needs to be optimized to get the cell at that stage because the length of the cell cycle are different in the each cell types. This study aims to obtain an optimal time to get MSC at metaphase stage. The study was conducted at the stem cell laboratory of Center for Biomedical and Basic Technology of Health. The event begins with isolation using flushing technique at the femur and tibia of mice. Furthermore, the culture in vitro and induction colcemid 0,25μg/ml for 8,16 and 24 hours to get the MSC at metaphase stage. KCl solution with a concentration of 0.075 M and 0,045 M used as a solvent hipotonis. Results showed that 16 hours of induction colcemid 0,25μg/ml in 0.075 M KCl solution usage percentage of MSC who are at metaphase stage and do the highest analysis (p<0.05. In this study 16 hours induction colcemid 0,25μg/ml is the optimal time to obtain metaphase stage of the MSC from bone marrow of mice.Keywords: mecenchymal stem cell, karyotyping, colcemidAbstrakKontrol terhadap stabilitas genetik pada sel punca sebelum pelaksanan terapi merupakan hal yang penting untuk mencegah efek seperti transformasi sel punca yang dapat terjadi. Secara konvensional dapat dilakukan karyotyping untuk melakukan analisis terhadap jumlah dan struktur kromosom. Analisis hanya dapat dilakukan pada tahap metafase sehingga perlu dilakukan optimasi untuk mendapatkan sel pada tahap tersebut mengingat panjang siklus sel setiap jenis sel berbeda. Penelitian ini bertujuan untuk memperoleh waktu yang optimal untuk mendapatkan MSC pada tahap metafase. Penelitian dilakukan di Laboratorium stem cell Pusat Biomedis dan Teknologi Dasar Kesehatan Badan Litbangkes

  2. Banded karyotype of the Konya wild sheep (Ovis orientalis anatolica Valenciennes, 1856) from Turkey.

    Science.gov (United States)

    Arslan, Atilla; Zima, Jan

    2011-01-01

    Thekaryotype, C-banding, and nucleoar organizer regions (NORs) of eight specimens ofKonya wild sheepfrom Turkey were examined. The complement included six large metacentric autosomes, 46 acrocentric autosomes of decreasing size, a medium-sized acrocentric X chromosome, and a small bi-armed Y chromosome (the diploid chromosome number 2n=54, the number of autosomal arms NFa=58, the number of chromosome arms NF=61). G-banding allowed reliable identification of all the chromosome pairs and the pairing of homologous elements. All the autosomes possessed distinct centromeric or pericentromeric C-positive bands. The X chromosome had a pericentromeric C-positive band, and the Y chromosome was entirely C-heterochromatic. The NORs were located in the terminal regions of the long arms of three metacentric and two acrocentric autosomes. The karyotype of the Konya wild sheep and its banding patterns are quite similar to chromosome complement reported in domestic sheep and European mouflon.

  3. Optimasi Penambahan Colcemid pada Karyotyping Kultur Mecenchymal Stem Cells (MSC Mencit

    Directory of Open Access Journals (Sweden)

    Ratih Rinendyaputri

    2016-02-01

    Full Text Available AbstractControl of the genetic stability of stem cells prior to the conduct of therapy is essential to prevent effects such as stem cell transformation. Karyotyping is a conventional technique to conduct an analysis of the number and structure of chromosomes. The analysis can only be performed on metaphase stage that needs to be optimized to get the cell at that stage because the length of the cell cycle are different in the each cell types. This study aims to obtain an optimal time to get MSC at metaphase stage. The study was conducted at the stem cell laboratory of Center for Biomedical and Basic Technology of Health. The event begins with isolation using flushing technique at the femur and tibia of mice. Furthermore, the culture in vitro and induction colcemid 0,25μg/ml for 8,16 and 24 hours to get the MSC at metaphase stage. KCl solution with a concentration of 0.075 M and 0,045 M used as a solvent hipotonis. Results showed that 16 hours of induction colcemid 0,25μg/ml in 0.075 M KCl solution usage percentage of MSC who are at metaphase stage and do the highest analysis (p<0.05. In this study 16 hours induction colcemid 0,25μg/ml is the optimal time to obtain metaphase stage of the MSC from bone marrow of mice.Keywords: mecenchymal stem cell, karyotyping, colcemidAbstrakKontrol terhadap stabilitas genetik pada sel punca sebelum pelaksanan terapi merupakan hal yang penting untuk mencegah efek seperti transformasi sel punca yang dapat terjadi. Secara konvensional dapat dilakukan karyotyping untuk melakukan analisis terhadap jumlah dan struktur kromosom. Analisis hanya dapat dilakukan pada tahap metafase sehingga perlu dilakukan optimasi untuk mendapatkan sel pada tahap tersebut mengingat panjang siklus sel setiap jenis sel berbeda. Penelitian ini bertujuan untuk memperoleh waktu yang optimal untuk mendapatkan MSC pada tahap metafase. Penelitian dilakukan di Laboratorium stem cell Pusat Biomedis dan Teknologi Dasar Kesehatan Badan Litbangkes

  4. Maintenance of syntenic groups between Cathartidae and Gallus gallus indicates symplesiomorphic karyotypes in new world vultures

    Science.gov (United States)

    Tagliarini, Marcella M.; O'Brien, Patricia C.M.; Ferguson-Smith, Malcolm A.; de Oliveira, Edivaldo H.C.

    2011-01-01

    Similarities between New World and Old World vultures have been interpreted to reflect a close relationship and to suggest the inclusion of both in Accipitridae (Falconiformes). However, deeper analyses indicated that the placement of the New World vultures (cathartids) in this Order is uncertain. Chromosome analysis has shown that cathartids retained a karyotype similar to the putative avian ancestor. In order to verify the occurrence of intrachromosomal rearrangements in cathartids, we hybridized whole chromosome probes of two species (Gallus gallus and Leucopternis albicollis) onto metaphases of Cathartes aura. The results showed that not only were the syntenic groups conserved between Gallus and C. aura, but probably also the general gene order, suggesting that New World vultures share chromosomal symplesiomorphies with most bird lineages. PMID:21637548

  5. A novel approach for efficient extrication of overlapping chromosomes in automated karyotyping.

    Science.gov (United States)

    Munot, Mousami V; Mukherjee, Jayanta; Joshi, Madhuri

    2013-12-01

    Since the introduction of the automated karyotyping systems, segmentation and classification of touching and overlapping chromosomes in the metaphase images are major challenges. The earlier reported techniques for disentangling the chromosome overlaps have limited success and use only color information in case of multispectral imaging. Most of them are restricted to separation of single overlap of two chromosomes. This paper introduces a novel algorithm to extricate overlapping chromosomes in a metaphase image. The proposed technique uses Delaunay triangulation to automatically identify the number of overlaps in a cluster followed by the detection of the appropriate cut-points. The banding information on the overlapped region further resolves the set of overlapping chromosomes with the identified cut-points. The proposed algorithm has been tested with four data sets of 60 overlapping cases, obtained from publically available databases and private genetic labs. The experimental results provide an overall accuracy of 75–100 % for resolving the cluster of 1–6 overlaps.

  6. Increased nuchal translucency with normal karyotype and anomaly scan: what next?

    Science.gov (United States)

    Bakker, Merel; Pajkrt, Eva; Bilardo, Caterina M

    2014-04-01

    Over the years, it has become clear that increased nuchal translucency is a marker for chromosomal abnormalities, and it is also associated with a wide spectrum of structural anomalies, genetic syndromes, a higher risk of miscarriage, and intrauterine fetal death. These risks are all proportionally related to the degree of nuchal translucency enlargement. After the initial assessment of increased nuchal translucency, parents should be counselled by the fetal medicine specialist about the possible outcomes and the value of additional karyotyping and array comparative genomic hybridisation. A detailed late first-trimester and subsequent 20-week scan should aim at identifying structural anomalies, with special focus on the fetal heart and subtle dysmorphic features. In the absence of structural anomalies or markers, the chance of a favourable outcome is high. Copyright © 2013 Elsevier Ltd. All rights reserved.

  7. Differentiation of European freshwater bucephalids (Digenea: Bucephalidae) based on karyotypes and DNA sequences.

    Science.gov (United States)

    Petkevičiūtė, Romualda; Stunžėnas, Virmantas; Stanevičiūtė, Gražina

    2014-02-01

    Three species of bucephalid digeneans are known in European freshwater habitats. In this study parthenitae of Rhipidocotyle campanula (Dujardin, 1845) and R. fennica Gibson, Taskinen & Valtonen, 1992, infecting unionid bivalves, and adult Bucephalus polymorphus von Baer, 1827 from perch (Perca fluviatilis L.) were investigated using karyological analysis and DNA sequencing. Our previously published data on genetic characteristics of parthenitae of B. polymorphus from Dreissena polymorpha Pallas were used for comparative analysis. Ribosomal DNA sequences (ITS2 and 28S rDNA) were used to estimate the phylogenetic relationships of the three bucephalid species. Very close phylogenetic affinity between investigated species was revealed; the sequence difference between the two species of Rhipidocotyle Diesing, 1858 (3.78% based on 28S) was comparable with intergeneric differences observed in comparisons of B. polymorphus with R. campanula and R. fennica (3.43% and 4.49% based on 28S, respectively). A high degree of similarity was noted in karyotype structure of the two species of Rhipidocotyle. The diploid chromosome sets consist of 14 bi-armed chromosomes with the first pair of metacentric elements markedly larger than the remaining chromosomes. This chromosome set structure is also specific to B. polymorphus. One specimen of Anodonta anatina L. was infected with tetraploid R. fennica (4n = 28). On the basis of karyotype characters and molecular data, species of the genus Rhipidocotyle cannot be recognised as more closely related to each other than to B. polymorphus. Our findings of Lithuanian and Ukrainian populations of unionid mussels infected with R. fennica provide evidence that this species occurs not only in Finland but also in Central and Eastern Europe. Previous reports of B. polymorphus in unionids in these regions are equivocal because of possible confusion with R. fennica.

  8. Genome Size Diversity in Lilium (Liliaceae Is Correlated with Karyotype and Environmental Traits

    Directory of Open Access Journals (Sweden)

    Yun-peng Du

    2017-07-01

    Full Text Available Genome size (GS diversity is of fundamental biological importance. The occurrence of giant genomes in angiosperms is restricted to just a few lineages in the analyzed genome size of plant species so far. It is still an open question whether GS diversity is shaped by neutral or natural selection. The genus Lilium, with giant genomes, is phylogenetically and horticulturally important and is distributed throughout the northern hemisphere. GS diversity in Lilium and the underlying evolutionary mechanisms are poorly understood. We performed a comprehensive study involving phylogenetically independent analysis on 71 species to explore the diversity and evolution of GS and its correlation with karyological and environmental traits within Lilium (including Nomocharis. The strong phylogenetic signal detected for GS in the genus provides evidence consistent with that the repetitive DNA may be the primary contributors to the GS diversity, while the significant positive relationships detected between GS and the haploid chromosome length (HCL provide insights into patterns of genome evolution. The relationships between GS and karyotypes indicate that ancestral karyotypes of Lilium are likely to have exhibited small genomes, low diversity in centromeric index (CVCI values and relatively high relative variation in chromosome length (CVCL values. Significant relationships identified between GS and annual temperature and between GS and annual precipitation suggest that adaptation to habitat strongly influences GS diversity. We conclude that GS in Lilium is shaped by both neutral (genetic drift and adaptive evolution. These findings will have important consequences for understanding the evolution of giant plant genomes, and exploring the role of repetitive DNA fraction and chromosome changes in a plant group with large genomes and conservation of chromosome number.

  9. Agnathia-holoprosencephaly associated with a 46,XY,-21,+t(21q;21q) karyotype

    Energy Technology Data Exchange (ETDEWEB)

    Niedermeyer, K.K.; McCorquodale, M.M.; Burton, B.K. [Univ. of Illinois, Chicago, IL (United States)

    1994-09-01

    We report an unusual case of agnathia-holoprosencephaly associated with Down syndrome due to a 21/21 translocation. The patient presented prenatally at 21 wks gestation. A fetal ultrasound revealed multiple CNS anomalies including hydrocephalus, compressed cerebellum, absent septum pellucidum and possible cranial meningocele or encephalocele. High resolution ultrasound & fetal karyotype were recommended. The patient refused & elected to have a pregnancy termination. Chromosomal analysis performed on products of conception revealed a 46,XY,-21,+t(21q;21q) karyotype. Fluorescence in situ hybridization was performed and confirmed the 21/21 translocation chromosome. An autopsy revealed agnathia and multiple CNS anomalies including absence of the septum pellucidum, absence of the corpus callosum, arhinencephaly, an occiptal meningoencephalocele, dilation of the lateral ventricles, and extensive dysgenesis & heterotopias of the central cerebrum & mid-brain. Additional abnormalities included a persistent left superior vena cava, atrial & ventricular septal defects, irregular length of the fingers with absence of the middle phalanges of the right 2nd and 5th & left 5th digits and bilateral simian creases. Agnathia can be an isolated abnormality but often is associated with holoprosencephaly and/or situs inversus. The majority of familial case of agnathis-holoprosencephaly was caused by an inherited unbalanced translocation resulting in duplication of 6p and monosomy of 18p. Our patient had a translocation form of trisomy 21 but did not have a phenotype consistent with Down syndrome. Trisomy 21 has not been previously reported in other cases of agnathia-holoprosencephaly. Whether the chromosomal abnormality caused the phenotypic abnormalities or if it is a coincidental finding cannot be determined.

  10. Molecular analysis in true hermaphrodites with different karyotypes and similar phenotypes

    Energy Technology Data Exchange (ETDEWEB)

    Torres, L.; Cervantes, A.; Kofman-Alfaro, S. [H.G.M. Ssa. Facultad de Medicina (Mexico)] [and others

    1996-05-17

    True hermaphroditism is characterized by the development of ovarian and testicular tissue in the same individual. Muellerian and Wolffian structures are usually present, and external genitalia are often ambiguous. The most frequent karyotype in these patients is 46,XX or various forms of mosaicism, whereas 46,XY is very rarely found. The phenotype in all these subjects is similar. We studied 10 true hermaphrodites. Six of them had a 46,XX chromosomal complement: 3 had been reared as males and 3 as females. The other 4 patients were mosaics: 3 were 46,XX/46,XY and one had a 46,XX/47,XXY karyotype. One of the 46,XX/46,XY mosaics was reared as a female, whereas the other 3 mosaics were reared as males. The sex of assignment in the 10 patients depended only on labio-scrotal differentiation. Molecular studies in 46,XX subjects documented the absence of Y centromeric sequences in all cases, arguing against hidden mosaicism. One patient presented Yp sequences (ZFY+, SRY+), which contrast with South African black 46,XX true hermaphrodites in whom no Y sequences were found. Molecular analysis in the subjects with mosaicism demonstrated the presence of Y centromeric and Yp sequences confirming the presence of a Y chromosome. Gonadal development, endocrine function, and phenotype in the 10 patients did not correlate with the presence of a Y chromosome or Y-derived sequences in the genome, confirming that true hermaphroditism is a heterogeneous condition. Both Mexican and non-South African 46,XX true hermaphrodites may be SRY positive. 51 refs., 3 figs., 2 tabs.

  11. Cytotaxonomy of Eurypyga helias (Gruiformes, Eurypygidae: First Karyotypic Description and Phylogenetic Proximity with Rynochetidae.

    Directory of Open Access Journals (Sweden)

    Ivanete de Oliveira Furo

    Full Text Available The sunbittern (Eurypyga helias is a South American Gruiformes, the only member of Family Eurypigidae. In most phylogenetic proposals, it is placed in a more distant position than other families of the so-called "core Gruiformes". Different studies based on molecular, morphological and biogeographical data suggest that the Eurypigidae is closely related to the kagu (Rhynochetos jubatus, the only species in Rynochetidae, another family not included in the core Gruiformes. Here, the karyotype of the sunbittern is described for the first time, by classical and molecular cytogenetics, using whole chromosome probes derived from Gallus gallus and Leucopternis albicollis. We found a diploid number of 80, with only one pair of biarmed autosomal macrochromosomes, similar to that observed in the kagu. Chromosome painting revealed that most syntenies found in the avian putative ancestral karyotype (PAK were conserved in the sunbittern. However, PAK1, PAK2, and PAK5 corresponded to two chromosome pairs each. Probes derived from L. albicollis confirm that fissions in PAK1 and PAK2 were centric, whereas in PAK5 the fission is interstitial. In addition, there is fusion of segments homologous to PAK2q and PAK5. From a phylogenetic point of view, comparisons of our results with two other Gruiformes belonging to family Rallidae suggest that the PAK5q fission might be a synapomorphy for Gruiformes. Fissions in PAK1 and PAK2 are found only in Eurypigidae, and might also occur in Rynochetidae, in view of the similar chromosomal morphology between the sunbittern and the kagu. This suggests a close phylogenetic relationship between Eurypigidae and Rynochetidae, whose common ancestor was separated by the Gondwana vicariancy in South America and New Caledonia, respectively.

  12. Karyotype analysis and sex determination in Australian Brush-turkeys (Alectura lathami)

    Science.gov (United States)

    Ortega, Madison T.; Foote, Dustin J.; Nees, Nicholas; Erdmann, Jason C.; Bangs, Charles D.

    2017-01-01

    Sexual differentiation across taxa may be due to genetic sex determination (GSD) and/or temperature sex determination (TSD). In many mammals, males are heterogametic (XY); whereas females are homogametic (XX). In most birds, the opposite is the case with females being heterogametic (ZW) and males the homogametic sex (ZZ). Many reptile species lack sex chromosomes, and instead, sexual differentiation is influenced by temperature with specific temperatures promoting males or females varying across species possessing this form of sexual differentiation, although TSD has recently been shown to override GSD in Australian central beaded dragons (Pogona vitticeps). There has been speculation that Australian Brush-turkeys (Alectura lathami) exhibit TSD alone and/or in combination with GSD. Thus, we sought to determine if this species possesses sex chromosomes. Blood was collected from one sexually mature female and two sexually mature males residing at Sylvan Heights Bird Park (SHBP) and shipped for karyotype analysis. Karyotype analysis revealed that contrary to speculation, Australian Brush-turkeys possess the classic avian ZW/ZZ sex chromosomes. It remains a possibility that a biased primary sex ratio of Australian Brush-turkeys might be influenced by maternal condition prior to ovulation that result in her laying predominantly Z- or W-bearing eggs and/or sex-biased mortality due to higher sensitivity of one sex in environmental conditions. A better understanding of how maternal and extrinsic factors might differentially modulate ovulation of Z- or W-bearing eggs and hatching of developing chicks possessing ZW or ZZ sex chromosomes could be essential in conservation strategies used to save endangered members of Megapodiidae. PMID:28910392

  13. Intrinsic karyotype stability and gene copy number variations may have laid the foundation for tetraploid wheat formation.

    Science.gov (United States)

    Zhang, Huakun; Bian, Yao; Gou, Xiaowan; Dong, Yuzhu; Rustgi, Sachin; Zhang, Bangjiao; Xu, Chunming; Li, Ning; Qi, Bao; Han, Fangpu; von Wettstein, Diter; Liu, Bao

    2013-11-26

    Polyploidy or whole-genome duplication is recurrent in plant evolution, yet only a small fraction of whole-genome duplications has led to successful speciation. A major challenge in the establishment of nascent polyploids is sustained karyotype instability, which compromises fitness. The three putative diploid progenitors of bread wheat, with AA, SS (S ∼ B), and DD genomes occurred sympatrically, and their cross-fertilization in different combinations may have resulted in fertile allotetraploids with various genomic constitutions. However, only SSAA or closely related genome combinations have led to the speciation of tetraploid wheats like Triticum turgidum and Triticum timopheevii. We analyzed early generations of four newly synthesized allotetraploid wheats with genome compositions S(sh)S(sh)A(m)A(m), S(l)S(l)AA, S(b)S(b)DD, and AADD by combined fluorescence and genomic in situ hybridization-based karyotyping. Results of karyotype analyses showed that although S(sh)S(sh)A(m)A(m) and S(l)S(l)AA are characterized by immediate and persistent karyotype stability, massive aneuploidy and extensive chromosome restructuring are associated with S(b)S(b)DD and AADD in which parental subgenomes showed markedly different propensities for chromosome gain/loss and rearrangements. Although compensating aneuploidy and reciprocal translocation between homeologs prevailed, reproductive fitness was substantially compromised due to chromosome instability. Strikingly, localized genomic changes in repetitive DNA and copy-number variations in gene homologs occurred in both chromosome stable lines, S(sh)S(sh)A(m)A(m) and S(l)S(l)AA. Our data demonstrated that immediate and persistent karyotype stability is intrinsic to newly formed allotetraploid wheat with genome combinations analogous to natural tetraploid wheats. This property, coupled with rapid gene copy-number variations, may have laid the foundation of tetraploid wheat establishment.

  14. Evidence for Karyotype Polymorphism in the Free-Living Flatworm, Macrostomum lignano, a Model Organism for Evolutionary and Developmental Biology

    Science.gov (United States)

    Schlatter, Aline; Konopatskaia, Irina D.

    2016-01-01

    Over the past decade, the free-living flatworm Macrostomum lignano has been successfully used in many areas of biology, including embryology, stem cells, sexual selection, bioadhesion and aging. The increased use of this powerful laboratory model, including the establishment of genomic resources and tools, makes it essential to have a detailed description of the chromosome organization of this species, previously suggested to have a karyotype with 2n = 8 and one pair of large and three pairs of small metacentric chromosomes. We performed cytogenetic analyses for chromosomes of one commonly used inbred line of M. lignano (called DV1) and uncovered unexpected chromosome number variation in the form of aneuploidies of the largest chromosomes. These results prompted us to perform karyotypic studies in individual specimens of this and other lines of M. lignano reared under laboratory conditions, as well as in freshly field-collected specimens from different natural populations. Our analyses revealed a high frequency of aneuploids and in some cases other numerical and structural chromosome abnormalities in laboratory-reared lines of M. lignano, and some cases of aneuploidy were also found in freshly field-collected specimens. Moreover, karyological analyses were performed in specimens of three further species: Macrostomum sp. 8 (a close relative of M. lignano), M. spirale and M. hystrix. Macrostomum sp. 8 showed a karyotype that was similar to that of M. lignano, with tetrasomy for its largest chromosome being the most common karyotype, while the other two species showed a simpler karyotype that is more typical of the genus Macrostomum. These findings suggest that M. lignano and Macrostomum sp. 8 can be used as new models for studying processes of partial genome duplication in genome evolution. PMID:27755577

  15. Cytogenetic data on Ancistrus sp. (Siluriformes, Loricariidae) of the Paraguay River basin (MS) sheds light on intrageneric karyotype diversification

    Science.gov (United States)

    Prizon, Ana Camila; Borin-Carvalho, Luciana Andreia; Bruschi, Daniel Pacheco; Ribeiro, Marcos Otávio; Barbosa, Ligia Magrinelli; Ferreira, Greicy Ellen de Brito; Cius, Andréa; Zawadzki, Claudio Henrique; Portela-Castro, Ana Luiza de Brito

    2016-01-01

    Abstract Ancistrus Kner, 1854 is a diverse catfish genus, currently comprising 66 valid species, but karyotype data were recorded for 33 species, although only ten have their taxonomic status defined. Considerable karyotype diversity has been found within this genus, with 2n varying from 34 to 54 and structural variability including heteromorphic sex chromosomes. In many cases, uncertainty on the taxonomic status of the study populations hampers reliable interpretation of the complex chromosomal evolutionary history of the group. This study aims to present the first karyotype data for a population of the Ancistrus sp. collected in Criminoso stream (tributary of the Paraguay River Basin, Mato Grosso do Sul, Brazil) in which a combination of different chromosomal markers was used and results integrated in broad discussion on karyotype evolution in the genus. The specimens presented 2n=42 with 18m+16sm+8st and a single NOR revealed by silver nitrate and fluorescence in situ hybridization (FISH) with 18S rDNA probe, located in pair No. 10. Clusters of 5S rDNA were located in the pericentromeric region of three chromosomes: pair No. 1 (metacentric) and one of the homologues of the nucleolar pair No. 10. Heterogeneity in the molecular composition of the heterochromatin was confirmed by the association of C-banding and fluorochrome CMA3/DAPI-staining. Exploring the differential composition of constitutive heterochromatin in Ancistrus may provide an important perspective to understand genome organization and evolution within this group. Our data reinforce the chromosomal diversity present in Ancistrus genus and we discuss the potential sources these variation. The karyotype structure of Ancistrus sp. “Criminoso stream” appears to be consistent with the existence of a new candidate species. PMID:28123683

  16. Cytogenetic follow-up by karyotyping and fluorescence in situ hybridization: implications for monitoring patients with myelodysplastic syndrome and deletion 5q treated with lenalidomide

    Science.gov (United States)

    Göhring, Gudrun; Giagounidis, Aristoteles; Büsche, Guntram; Hofmann, Winfried; Kreipe, Hans Heinrich; Fenaux, Pierre; Hellström-Lindberg, Eva; Schlegelberger, Brigitte

    2011-01-01

    In patients with low and intermediate risk myelodysplastic syndrome and deletion 5q (del(5q)) treated with lenalidomide, monitoring of cytogenetic response is mandatory, since patients without cytogenetic response have a significantly increased risk of progression. Therefore, we have reviewed cytogenetic data of 302 patients. Patients were analyzed by karyotyping and fluorescence in situ hybridization. In 85 patients, del(5q) was only detected by karyotyping. In 8 patients undergoing karyotypic evolution, the del(5q) and additional chromosomal aberrations were only detected by karyotyping. In 3 patients, del(5q) was only detected by fluorescence in situ hybridization, but not by karyotyping due to a low number of metaphases. Karyotyping was significantly more sensitive than fluorescence in situ hybridization in detecting the del(5q) clone. In conclusion, to optimize therapy control of myelodysplastic syndrome patients with del(5q) treated with lenalidomide and to identify cytogenetic non-response or progression as early as possible, fluorescence in situ hybridization alone is inadequate for evaluation. Karyotyping must be performed to optimally evaluate response. (clinicaltrials.gov identifier: NCT01099267 and NCT00179621) PMID:21109690

  17. Evaluation of PCR on bronchoalveolar lavage fluid for diagnosis of invasive aspergillosis: a bivariate metaanalysis and systematic review.

    Directory of Open Access Journals (Sweden)

    Wenkui Sun

    Full Text Available BACKGROUND: Nucleic acid detection by polymerase chain reaction (PCR is emerging as a sensitive and rapid diagnostic tool. PCR assays on serum have the potential to be a practical diagnostic tool. However, PCR on bronchoalveolar lavage fluid (BALF has not been well established. We performed a systematic review of published studies to evaluate the diagnostic accuracy of PCR assays on BALF for invasive aspergillosis (IA. METHODS: Relevant published studies were shortlisted to evaluate the quality of their methodologies. A bivariate regression approach was used to calculate pooled values of the method sensitivity, specificity, and positive and negative likelihood ratios. Hierarchical summary receiver operating characteristic curves were used to summarize overall performance. We calculated the post-test probability to evaluate clinical usefulness. Potential heterogeneity among studies was explored by subgroup analyses. RESULTS: Seventeen studies comprising 1191 at-risk patients were selected. The summary estimates of the BALF-PCR assay for proven and probable IA were as follows: sensitivity, 0.91 (95% confidence interval (CI, 0.79-0.96; specificity, 0.92 (95% CI, 0.87-0.96; positive likelihood ratio, 11.90 (95% CI, 6.80-20.80; and negative likelihood ratio, 0.10 (95% CI, 0.04-0.24. Subgroup analyses showed that the performance of the PCR assay was influenced by PCR assay methodology, primer design and the methods of cell wall disruption and DNA extraction. CONCLUSIONS: PCR assay on BALF is highly accurate for diagnosing IA in immunocompromised patients and is likely to be a useful diagnostic tool. However, further efforts towards devising a standard protocol are needed to enable formal validation of BALF-PCR.

  18. Implementation of standardized international karyotype scoring practices is needed to provide uniform and systematic evaluation for patients with myelodysplastic syndrome using IPSS criteria: An International Working Group on MDS Cytogenetics Study.

    Science.gov (United States)

    Chun, Kathy; Hagemeijer, Anne; Iqbal, Anwar; Slovak, Marilyn L

    2010-02-01

    Karyotype status and complexity are key components of the IPSS; however, emerging data suggest the use of cytogenetics at disease presentation is not applied uniformly among MDS patients. To investigate the degree of consistency of scoring karyotypes, the International Working Group on MDS Cytogenetics (IWGMC) conducted a survey of 32 abnormal karyotype challenges carried out in two phases: (a) an initial survey without any specified karyotype counting guidelines and (b) a second survey conducted after the development of IWGMC consensus guidelines for scoring karyotype complexity. Results indicate that IWGMC guidelines were simple and clear for the cytogeneticists in scoring karyotype complexity, but not as clear for the hematologists. We propose an immediate need for standardized international karyotype counting practices and a corresponding IPSS cytogenetic risk that can be incorporated into the cytogenetics reports of all newly diagnosed MDS patients.

  19. Chromosomes in the flow to simplify genome analysis.

    Science.gov (United States)

    Doležel, Jaroslav; Vrána, Jan; Safář, Jan; Bartoš, Jan; Kubaláková, Marie; Simková, Hana

    2012-08-01

    Nuclear genomes of human, animals, and plants are organized into subunits called chromosomes. When isolated into aqueous suspension, mitotic chromosomes can be classified using flow cytometry according to light scatter and fluorescence parameters. Chromosomes of interest can be purified by flow sorting if they can be resolved from other chromosomes in a karyotype. The analysis and sorting are carried out at rates of 10(2)-10(4) chromosomes per second, and for complex genomes such as wheat the flow sorting technology has been ground-breaking in reducing genome complexity for genome sequencing. The high sample rate provides an attractive approach for karyotype analysis (flow karyotyping) and the purification of chromosomes in large numbers. In characterizing the chromosome complement of an organism, the high number that can be studied using flow cytometry allows for a statistically accurate analysis. Chromosome sorting plays a particularly important role in the analysis of nuclear genome structure and the analysis of particular and aberrant chromosomes. Other attractive but not well-explored features include the analysis of chromosomal proteins, chromosome ultrastructure, and high-resolution mapping using FISH. Recent results demonstrate that chromosome flow sorting can be coupled seamlessly with DNA array and next-generation sequencing technologies for high-throughput analyses. The main advantages are targeting the analysis to a genome region of interest and a significant reduction in sample complexity. As flow sorters can also sort single copies of chromosomes, shotgun sequencing DNA amplified from them enables the production of haplotype-resolved genome sequences. This review explains the principles of flow cytometric chromosome analysis and sorting (flow cytogenetics), discusses the major uses of this technology in genome analysis, and outlines future directions.

  20. Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus.

    Science.gov (United States)

    Medina-Gomez, Carolina; Kemp, John P; Dimou, Niki L; Kreiner, Eskil; Chesi, Alessandra; Zemel, Babette S; Bønnelykke, Klaus; Boer, Cindy G; Ahluwalia, Tarunveer S; Bisgaard, Hans; Evangelou, Evangelos; Heppe, Denise H M; Bonewald, Lynda F; Gorski, Jeffrey P; Ghanbari, Mohsen; Demissie, Serkalem; Duque, Gustavo; Maurano, Matthew T; Kiel, Douglas P; Hsu, Yi-Hsiang; C J van der Eerden, Bram; Ackert-Bicknell, Cheryl; Reppe, Sjur; Gautvik, Kaare M; Raastad, Truls; Karasik, David; van de Peppel, Jeroen; Jaddoe, Vincent W V; Uitterlinden, André G; Tobias, Jonathan H; Grant, Struan F A; Bagos, Pantelis G; Evans, David M; Rivadeneira, Fernando

    2017-07-25

    Bone mineral density is known to be a heritable, polygenic trait whereas genetic variants contributing to lean mass variation remain largely unknown. We estimated the shared SNP heritability and performed a bivariate GWAS meta-analysis of total-body lean mass (TB-LM) and total-body less head bone mineral density (TBLH-BMD) regions in 10,414 children. The estimated SNP heritability is 43% (95% CI: 34-52%) for TBLH-BMD, and 39% (95% CI: 30-48%) for TB-LM, with a shared genetic component of 43% (95% CI: 29-56%). We identify variants with pleiotropic effects in eight loci, including seven established bone mineral density loci: WNT4, GALNT3, MEPE, CPED1/WNT16, TNFSF11, RIN3, and PPP6R3/LRP5. Variants in the TOM1L2/SREBF1 locus exert opposing effects TB-LM and TBLH-BMD, and have a stronger association with the former trait. We show that SREBF1 is expressed in murine and human osteoblasts, as well as in human muscle tissue. This is the first bivariate GWAS meta-analysis to demonstrate genetic factors with pleiotropic effects on bone mineral density and lean mass.Bone mineral density and lean skeletal mass are heritable traits. Here, Medina-Gomez and colleagues perform bivariate GWAS analyses of total body lean mass and bone mass density in children, and show genetic loci with pleiotropic effects on both traits.

  1. Statistics for quantifying heterogeneity in univariate and bivariate meta-analyses of binary data: the case of meta-analyses of diagnostic accuracy.

    Science.gov (United States)

    Zhou, Yan; Dendukuri, Nandini

    2014-07-20

    Heterogeneity in diagnostic meta-analyses is common because of the observational nature of diagnostic studies and the lack of standardization in the positivity criterion (cut-off value) for some tests. So far the unexplained heterogeneity across studies has been quantified by either using the I(2) statistic for a single parameter (i.e. either the sensitivity or the specificity) or visually examining the data in a receiver-operating characteristic space. In this paper, we derive improved I(2) statistics measuring heterogeneity for dichotomous outcomes, with a focus on diagnostic tests. We show that the currently used estimate of the 'typical' within-study variance proposed by Higgins and Thompson is not able to properly account for the variability of the within-study variance across studies for dichotomous variables. Therefore, when the between-study variance is large, the 'typical' within-study variance underestimates the expected within-study variance, and the corresponding I(2) is overestimated. We propose to use the expected value of the within-study variation in the construction of I(2) in cases of univariate and bivariate diagnostic meta-analyses. For bivariate diagnostic meta-analyses, we derive a bivariate version of I(2) that is able to account for the correlation between sensitivity and specificity. We illustrate the performance of these new estimators using simulated data as well as two real data sets.

  2. Copula-Based Bivariate Flood Frequency Analysis in a Changing Climate-A Case Study in the Huai River Basin, China

    Institute of Scientific and Technical Information of China (English)

    Kai Duan; Yadong Mei; Liping Zhang

    2016-01-01

    ABSTRACT:Copula-based bivariate frequency analysis can be used to investigate the changes in flood characteristics in the Huai River Basin that could be caused by climate change. The univariate distribu-tions of historical flood peak, maximum 3-day and 7-day volumes in 1961–2000 and future values in 2061–2100 projected from two GCMs (CSIRO-MK3.5 and CCCma-CGCM3.1) under A2, A1B and B1 emission scenarios are analyzed and compared. Then, bivariate distributions of peaks and volumes are constructed based on the copula method and possible changes in joint return periods are characterized. Results indicate that the Clayton copula is more appropriate for historical and CCCma-CGCM3.1 simu-lating flood variables, while that of Frank and Gumbel are better fitted to CSIRO-MK3.5 simulations. The variations of univariate and bivariate return periods reveal that flood characteristics may be more sensi-tive to different GCMs than different emission scenarios. Between the two GCMs, CSIRO-MK3.5 evi-dently predicts much more severe flood conditions in future, especially under B1 scenario, whereas CCCma-CGCM3.1 generally suggests contrary changing signals. This study corroborates that copulas can serve as a viable and flexible tool to connect univariate marginal distributions of flood variables and quantify the associated risks, which may provide useful information for risk-based flood control.

  3. Long-lead station-scale prediction of hydrological droughts in South Korea based on bivariate pattern-based downscaling

    Science.gov (United States)

    Sohn, Soo-Jin; Tam, Chi-Yung

    2016-05-01

    Capturing climatic variations in boreal winter to spring (December-May) is essential for properly predicting droughts in South Korea. This study investigates the variability and predictability of the South Korean climate during this extended season, based on observations from 60 station locations and multi-model ensemble (MME) hindcast experiments (1983/1984-2005/2006) archived at the APEC Climate Center (APCC). Multivariate empirical orthogonal function (EOF) analysis results based on observations show that the first two leading modes of winter-to-spring precipitation and temperature variability, which together account for ~80 % of the total variance, are characterized by regional-scale anomalies covering the whole South Korean territory. These modes were also closely related to some of the recurrent large-scale circulation changes in the northern hemisphere during the same season. Consistent with the above, examination of the standardized precipitation evapotranspiration index (SPEI) indicates that drought conditions in South Korea tend to be accompanied by regional-to-continental-scale circulation anomalies over East Asia to the western north Pacific. Motivated by the aforementioned findings on the spatial-temporal coherence among station-scale precipitation and temperature anomalies, a new bivariate and pattern-based downscaling method was developed. The novelty of this method is that precipitation and temperature data were first filtered using multivariate EOFs to enhance their spatial-temporal coherence, before being linked to large-scale circulation variables using canonical correlation analysis (CCA). To test its applicability and to investigate its related potential predictability, a perfect empirical model was first constructed with observed datasets as predictors. Next, a model output statistics (MOS)-type hybrid dynamical-statistical model was developed, using products from nine one-tier climate models as inputs. It was found that, with model sea

  4. Application of continuous normal-lognormal bivariate density functions in a sensitivity analysis of municipal solid waste landfill.

    Science.gov (United States)

    Petrovic, Igor; Hip, Ivan; Fredlund, Murray D

    2016-09-01

    The variability of untreated municipal solid waste (MSW) shear strength parameters, namely cohesion and shear friction angle, with respect to waste stability problems, is of primary concern due to the strong heterogeneity of MSW. A large number of municipal solid waste (MSW) shear strength parameters (friction angle and cohesion) were collected from published literature and analyzed. The basic statistical analysis has shown that the central tendency of both shear strength parameters fits reasonably well within the ranges of recommended values proposed by different authors. In addition, it was established that the correlation between shear friction angle and cohesion is not strong but it still remained significant. Through use of a distribution fitting method it was found that the shear friction angle could be adjusted to a normal probability density function while cohesion follows the log-normal density function. The continuous normal-lognormal bivariate density function was therefore selected as an adequate model to ascertain rational boundary values ("confidence interval") for MSW shear strength parameters. It was concluded that a curve with a 70% confidence level generates a "confidence interval" within the reasonable limits. With respect to the decomposition stage of the waste material, three different ranges of appropriate shear strength parameters were indicated. Defined parameters were then used as input parameters for an Alternative Point Estimated Method (APEM) stability analysis on a real case scenario of the Jakusevec landfill. The Jakusevec landfill is the disposal site of the capital of Croatia - Zagreb. The analysis shows that in the case of a dry landfill the most significant factor influencing the safety factor was the shear friction angle of old, decomposed waste material, while in the case of a landfill with significant leachate level the most significant factor influencing the safety factor was the cohesion of old, decomposed waste material. The

  5. Can cholesterol be used to distinguish pleural exudates from transudates? evidence from a bivariate meta-analysis.

    Science.gov (United States)

    Shen, Yongchun; Zhu, Hong; Wan, Chun; Chen, Lei; Wang, Tao; Yang, Ting; Wen, Fuqiang

    2014-04-15

    Many studies have investigated whether pleural cholesterol levels can aid in diagnosis of pleural exudates, and the results have varied considerably. To gain a more reliable answer to this question, we meta-analyzed the literature on using pleural cholesterol or the ratio of cholesterol in pleural fluid to cholesterol in serum (P/S cholesterol ratio) as diagnostic tests to help identify pleural exudates. Literature databases were systematically searched for studies examining accuracy of pleural cholesterol or P/S cholesterol ratios for diagnosing pleural exudates. Data on sensitivity, specificity, positive/negative likelihood ratio (PLR/NLR), and diagnostic odds ratio (DOR) were pooled using bivariate-effects models. Summary receiver operating characteristic (SROC) curves and area under the curve (AUC) were used to summarize overall test performance. Our meta-analysis included up to 20 studies involving 3,496 subjects. Summary estimates for pleural cholesterol in the diagnosis of pleural exudates were as follows: sensitivity, 0.88 (95%CI 0.84 to 0.92); specificity, 0.96 (95% CI 0.92 to 0.98); PLR, 20.31 (95% CI 11.21 to 36.78); NLR, 0.12 (95% CI 0.09 to 0.17); DOR, 167.06 (95% CI 76.79 to 363.95); and AUC 0.97 (95% CI 0.95 to 0.98). The corresponding summary performance estimates for using the P/S cholesterol ratio were as follows: sensitivity, 0.94 (95% CI 0.92 to 0.96); specificity, 0.87 (95% CI 0.83 to 0.91); PLR 7.46 (95% CI, 5.47 to 10.19); NLR, 0.07 (95% CI 0.05 to 0.10); DOR, 107.74 (95% CI 60.91 to 190.60); and AUC 0.97 (95% CI 0.95 to 0.98). Both pleural cholesterol level and the P/S cholesterol ratio are helpful for the diagnosis of pleural exudates. Nevertheless, the results of pleural cholesterol assays should be interpreted in parallel with the results of traditional tests and clinical information.

  6. Chromosome karyotype and nuclear DNA content of mantis shrimp Oratosquilla oratoria%口虾蛄染色体核型分析及DNA含量

    Institute of Scientific and Technical Information of China (English)

    刘海映; 杨硕; 闫红伟; 周贺; 刘奇; 林原; 李成久; 郭良勇

    2016-01-01

    为了解口虾蛄Oratosquilla oratoria核型组成及DNA含量,以野生口虾蛄为材料,采用秋水仙素内注射法,取其肝胰腺组织经低渗和固定后,获得染色体标本,并对其染色体核型进行了分析,以鸡血细胞DNA为标准,采用流式细胞仪测定口虾蛄不同组织的DNA含量。结果表明:口虾蛄二倍体染色体数目为88,即2n=88,核型组成公式为2n=62m+12sm+14t,染色体总臂数( NF)为162;口虾蛄不同组织的DNA含量有显著性差异(P精巢>卵巢>肝胰腺>血液,肌肉组织含量最高,为10.43 pg/2c,血液含量最低,为8.70 pg/2c,各组织DNA含量平均为9.61 pg/2c;以1 pg=978 Mbp计算,首次成功估算了口虾蛄基因组大小约为9398.58 Mbp。本研究结果可为口虾蛄种质资源保护及未来人工养殖研究提供基础资料。%The karyotypic pattern was analyzed using colchicine injection method and DNA contents in different tis-sues were determined using DNA of the chicken blood cell as standard in mantis shrimp Oratosquilla oratoria by a flow cytometer to understand the karyotype, DNA content and genetics content. It was found that there were 88 chromosomes in diploid with 2n=88 in hepatopancreas specimen,with the karyotype formula of 2n=62m+12sm+14t, and total chromosome arm number (NF) of 162. The DNA content was significantly different in different tis-sues (Ptesticle>ovary>hepatopancreas>blood, the maximal value (10. 43 pg/2c) in muscle and the minimal (8. 70 pg/2c) in blood, with an average of 9. 61 pg/2c. Moreover, the average value of the mantis shrimp genome size was estimated to be 9398. 58 Mbp as 1 pg=978 Mbp. The findings make a first step towards broodstock conservation and complete aquaculture of the mantis shrimp in the future.

  7. 半滑舌鳎染色体核型分析%The karyotype of the tonguefish Cynoglossus semilaevis

    Institute of Scientific and Technical Information of China (English)

    周丽青; 杨爱国; 柳学周; 杜伟; 庄志猛

    2005-01-01

    The tonguefish Cynoglossus semilaevis (Giinther) is a rare fish species in Chinese offing, inhabiting in the warm water bottom. The metaphase chromosome preparation of the fries has been got from their fins by hot air drying methods, while the metaphase chromosomes of one year old young fish which has physiologically sex differentiation has teen got from their renal tissues by the method of PHA and colchicine injection. The karyotypes were examined. The result shows that there are 42 acrocentric chromosomes in diploid and their karyotype formula is 2n = 42t, and there existed heterotypic sex chromosome which belongs to ZW/ZZ type. The sex ratio in artificial bred stock is nearly 1 : 1.

  8. Intraspecific karyotypic differentiation in the Australian phasmatid Didymuria violescens (Leach). I. The chromosome races and their structural and evolutionary relationships.

    Science.gov (United States)

    Craddock, E M

    1975-11-20

    The phasmatid species Didymuria violescens comprises ten distinct chromosome races parapatrically distributed such that adjacent races meet in narrow zones of overlap. The interracial karyotypic variation is remarkable and involves both diploid number differences (in the range 26-40) and differences in the sex-chromosome mechanism. Karyotypic comparisons and analyses of the meiotic pairing relationships in interracial hybirds have shown that the differences derive in large part from a series of centric fusion events and X-autosome fusions, which together contribute to the reduction in chromosome number within the species. The origin and development of the current racial pattern can best be interpreted in terms of the stasipatric hypothesis of White.

  9. Normal karyotype is a poor prognostic factor in myeloid leukemia of Down syndrome: a retrospective, international study.

    Science.gov (United States)

    Blink, Marjolein; Zimmermann, Martin; von Neuhoff, Christine; Reinhardt, Dirk; de Haas, Valerie; Hasle, Henrik; O'Brien, Maureen M; Stark, Batia; Tandonnet, Julie; Pession, Andrea; Tousovska, Katerina; Cheuk, Daniel K L; Kudo, Kazuko; Taga, Takashi; Rubnitz, Jeffrey E; Haltrich, Iren; Balwierz, Walentyna; Pieters, Rob; Forestier, Erik; Johansson, Bertil; van den Heuvel-Eibrink, Marry M; Zwaan, C Michel

    2014-02-01

    Myeloid leukemia of Down syndrome has a better prognosis than sporadic pediatric acute myeloid leukemia. Most cases of myeloid leukemia of Down syndrome are characterized by additional cytogenetic changes besides the constitutional trisomy 21, but their potential prognostic impact is not known. We, therefore, conducted an international retrospective study of clinical characteristics, cytogenetics, treatment, and outcome of 451 children with myeloid leukemia of Down syndrome. All karyotypes were centrally reviewed before assigning patients to subgroups. The overall 7-year event-free survival for the entire cohort was 78% (± 2%), with the overall survival rate being 79% (± 2%), the cumulative incidence of relapse 12% (± 2%), and the cumulative incidence of toxic death 7% (± 1%). Outcome estimates showed large differences across the different cytogenetic subgroups. Based on the cumulative incidence of relapse, we could risk-stratify patients into two groups: cases with a normal karyotype (n=103) with a higher cumulative incidence of relapse (21%± 4%) than cases with an aberrant karyotype (n=255) with a cumulative incidence of relapse of 9% (± 2%) (P=0.004). Multivariate analyses revealed that white blood cell count ≥ 20 × 10(9)/L and age >3 years were independent predictors for poor event-free survival, while normal karyotype independently predicted inferior overall survival, event-free survival, and relapse-free survival. In conclusion, this study showed large differences in outcome within patients with myeloid leukemia of Down syndrome and identified novel prognostic groups that predicted clinical outcome and hence may be used for stratification in future treatment protocols.

  10. Cytokine expression patterns and mesenchymal stem cell karyotypes from the bone marrow microenvironment of patients with myelodysplastic syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Xiong, H.; Yang, X.Y.; Han, J.; Wang, Q.; Zou, Z.L. [Department of Hematology, Shanghai Clinical Research Center, Chinese Academy of Sciences, Shanghai Xuhui District Central Hospital, Shanghai (China)

    2015-01-20

    The purpose of this study was to explore cytokine expression patterns and cytogenetic abnormalities of mesenchymal stem cells (MSCs) from the bone marrow microenvironment of Chinese patients with myelodysplastic syndromes (MDS). Bone marrow samples were obtained from 30 cases of MDS (MDS group) and 30 healthy donors (control group). The expression pattern of cytokines was detected by customized protein array. The karyotypes of MSCs were analyzed using fluorescence in situ hybridization. Compared with the control group, leukemia inhibitory factor, stem cell factor (SCF), stromal cell-derived factor (SDF-1), bone morphogenetic protein 4, hematopoietic stem cell (HSC) stimulating factor, and transforming growth factor-β in the MDS group were significantly downregulated (P<0.05), while interferon-γ (IFN-γ), tumor necrosis factor-α (TNF-α), and programmed death ligand (B7-H1) were significantly upregulated (P<0.05). For chromosome abnormality analysis, the detection rate of abnormal karyotypes (+8, -8, -20, 20q-, -Y, -7, 5q-) was 30% in the MDS group and 0% in the control group. In conclusion, the up- and downregulated expression of these cytokines might play a key role in the pathogenesis of MDS. Among them, SCF and SDF-1 may play roles in the apoptosis of HSCs in MDS; and IFN-γ, TNF-α, and B7-H1 may be associated with apoptosis of bone marrow cells in MDS. In addition, the abnormal karyotypes might be actively involved in the pathogenesis of MDS. Further studies are required to determine the role of abnormal karyotypes in the occurrence and development of MDS.

  11. Comparison of the karyotypes ofPsathyrostachys juncea andP. huashanica (Poaceae) studied by banding techniques

    DEFF Research Database (Denmark)

    Linde-Laursen, Ib; Bothmer, R. von

    1986-01-01

    . The patterns of both taxa are polymorphic, supporting that both taxa are outbreeders. The karyotypic characters suggest that P. juncea is more closely related to P. fragilis than either is to P. huashanica. N-banding stains weakly. Silver nitrate staining demonstrates that nucleolus organizers of both species...... have different nucleolus forming capacities. The presence of micronucleoli suggests that both species have an extra unidentified chromosome with nucleolus forming capacity....

  12. Karyotypes of two cytotypes of Paspalum quadrifarium Lam. (Poaceae): an alternative technique for small chromosomes in plants

    OpenAIRE

    Pablo Speranza; Magdalena Vaio; Cristina Mazzella

    2003-01-01

    Paspalum quadrifarium Lam. is a bunchgrass native to Uruguay, Argentina, and southern Brazil. Diploid, triploid, tetraploid and hexaploid cytotypes have been reported for this species of the Quadrifaria group of Paspalum. In this group, a high degree of cytogenetic homology between the genomes of several diploid species has been reported, based on meiotic pairing in interspecific hybrids; multivalent associations would thus be expected in polyploid hybrids. Karyotype analysis could provide us...

  13. Central neurocytoma : morphological, flow cytometric, polymerase chain reaction, fluorescence in situ hybridization, and karyotypic analyses - Case report

    NARCIS (Netherlands)

    Jay, RM; Edwards, KA; Hoving, E; Rutka, J; Becker, L; Zielenska, M; Teshima, Teruki

    1999-01-01

    The results of cytogenetic and molecular genetic analysis of a central neurocytoma are presented. Central neurocytomas are intriguing neoplasms that exhibit primarily neuronal, but also glial characteristics, which indicate an origin from a pluripotential neuroglial precursor. The authors describe a

  14. A Rare Case of Klinefelter Syndrome Patient with Quintuple Mosaic Karyotype, Diagnosed by GTG-Banding and FISH

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    Hamideh Karimi

    2014-07-01

    Full Text Available Klinefelter syndrome (KS is the most common sex chromosomal disorder in men. Most of these patients show the 47,XXY karyotype, whereas approximately 15% of them are mosaics with variable phenotype. A 39-year-old male investigated for primary infertility, was clinically normal with small firm testes and elevated levels of FSH, LH and low level of testosterone. Total azoospermia was confirmed on semen analysis. Testicular histopathology revealed no spermatogenesis and absence of germ cells. Karyotype from whole blood culture showed cells with 47,XXY/46,XX/ 45,X/48,XXXY/ 46,XY mosaicism. The predominant cell line was 47,XXY (83.67%. This was confirmed by fluorescence in situ hybridization (FISH. Also the presence of a small population of cells with the 48,XXXY and 45,X karyotypes was detected by FISH. This case illustrates the utility of FISH as an adjunct to conventional cytogenetics in assess the chromosome copy number in each cell line of a mosaic.

  15. Karyotype characterization of the endemic piscine leech from Lake Baikal with vindication of Baicalobdella cottidarum Dogiel, 1957 (Piscicolidae, Hirudinea

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    Kaygorodova Irina A.

    2015-01-01

    Full Text Available In this paper, we present for the first time data on karyotype analysis of leeches of the genus Baicalobdella (Piscicolidae parasitizing Lake Baikal endemic cottoid fishes. Both mitotic and meiotic chromosomes are described. Leech testisacs were processed by a “shaking-blotting” technique, and chromosomal preparations were stained with water-based fuchsine. Diploid and haploid chromosome sets demonstrated 2n=34 and n=17, respectively, with maximal chromosome length of 1.5-3.0 μm. Comparative karyotype analysis of two ecological forms of Baicalobdella leeches revealed differences in chromosome numbers and its morphology. Previously studied Baicalobdella torquata (Grube, 1871 parasitizing Baikal amphipods had smaller diploid and haploid sets (2n=32, n=16. In addition to numerical superiority, differing patterns of chromosome size gradation and presence of satellite elements were found in the karyotype of piscine Baicalobdella leeches. This confirms the systematic position of the Baikal cottoid leech parasite as a separate species, validating the original name Baicalobdella cottidarum sensu Dogiel, 1957.

  16. Cytogenetic characterization of complex karyotypes in seven established melanoma cell lines by multiplex fluorescence in situ hybridization and DAPI banding.

    Science.gov (United States)

    Schulten, Hans Jürgen; Gunawan, Bastian; Otto, Friedrich; Hassmann, René; Hallermann, Christian; Noebel, Albrecht; Füzesi, László

    2002-03-01

    We report the use of multiplex fluorescence in situ hybridization (M-FISH) to resolve chromosomal aberrations in seven established melanoma cell lines with hypotriploid to hypertetraploid complex karyotypes. By simultaneous identification of all human chromosomes in single FISH experiments using a set of 52 directly labeled, whole chromosome painting probes, cryptic chromosomal translocations and the origin of unclear chromosomal material in structural rearranged and marker chromosomes could be identified, refining the tumor karyotypes in all seven cell lines. The number of structural aberrations in each cell line assigned with combined M-FISH and DAPI banding analysis ranged from 15 to 45. Altogether, 275 breakpoints could be assigned to defined chromosomal regions or bands. The chromosome arms 1p, 6q, 7p, 9p, and 11q which are known to be nonrandomly associated with melanoma tumorigenesis, were frequently involved in chromosomal breaks and/or copy number changes. This study also demonstrated the practical usefulness of combining M-FISH with conventional cytogenetic banding techniques for the characterization of complex tumor karyotypes with massive genomic alterations.

  17. Variation of karyotype and nuclear DNA content among four species of Plectranthus L’ Héritier, 1788 (Lamiaceae) from Brazil

    Science.gov (United States)

    Nani, Thaís Furtado; Mesquita, Amanda Teixeira; Bustamante, Fernanda de Oliveira; Barbosa, Sandro; Barbosa, João Vítor Calvelli; Davide, Lisete Chamma

    2015-01-01

    Abstract Plectranthus is a genus which includes species of ornamental and medicinal potential. It faces taxonomic problems due to aggregating species previously belonging to the genus Coleus, a fact that has contributed to the existence of various synonymies. The species Plectranthus amboinicus, Plectranthus barbatus, Plectranthus grandis and Plectranthus neochilus are included in this context. Some authors consider Plectranthus barbatus and Plectranthus grandis as synonyms. The present work was carried out with the aim of comparing plants of the above-mentioned species, originating from different localities in Brazil, with regards to chromosome number and karyotypic morphology, correlated to the nuclear DNA content. There was no variation in chromosome number among plants of the same species. Plectranthus amboinicus was the only species to exhibit 2n=34, whereas the others had 2n=30. No karyotypic differences were found among the plants of each species, except for Plectranthus barbatus. The plants of the Plectranthus species revealed little coincidence between chromosome pairs. The nuclear DNA content allowed grouping Plectranthus amboinicus and Plectranthus neochilus, with the highest mean values, and Plectranthus grandis and Plectranthus barbatus with the lowest ones. Differences in DNA amount among the plants were identified only for Plectranthus barbatus. These results allow the inference that the populations of Plectranthus amboinicus and Plectranthus neochilus present coincident karyotypes among their plants, and Plectranthus grandis is probably a synonym of Plectranthus barbatus. PMID:26753074

  18. Variation of karyotype and nuclear DNA content among four species of Plectranthus L' Héritier, 1788 (Lamiaceae) from Brazil.

    Science.gov (United States)

    Nani, Thaís Furtado; Mesquita, Amanda Teixeira; Bustamante, Fernanda de Oliveira; Barbosa, Sandro; Barbosa, João Vítor Calvelli; Davide, Lisete Chamma

    2015-01-01

    Plectranthus is a genus which includes species of ornamental and medicinal potential. It faces taxonomic problems due to aggregating species previously belonging to the genus Coleus, a fact that has contributed to the existence of various synonymies. The species Plectranthus amboinicus, Plectranthus barbatus, Plectranthus grandis and Plectranthus neochilus are included in this context. Some authors consider Plectranthus barbatus and Plectranthus grandis as synonyms. The present work was carried out with the aim of comparing plants of the above-mentioned species, originating from different localities in Brazil, with regards to chromosome number and karyotypic morphology, correlated to the nuclear DNA content. There was no variation in chromosome number among plants of the same species. Plectranthus amboinicus was the only species to exhibit 2n=34, whereas the others had 2n=30. No karyotypic differences were found among the plants of each species, except for Plectranthus barbatus. The plants of the Plectranthus species revealed little coincidence between chromosome pairs. The nuclear DNA content allowed grouping Plectranthus amboinicus and Plectranthus neochilus, with the highest mean values, and Plectranthus grandis and Plectranthus barbatus with the lowest ones. Differences in DNA amount among the plants were identified only for Plectranthus barbatus. These results allow the inference that the populations of Plectranthus amboinicus and Plectranthus neochilus present coincident karyotypes among their plants, and Plectranthus grandis is probably a synonym of Plectranthus barbatus.

  19. TP53 mutations are early events in chronic lymphocytic leukemia disease progression and precede evolution to complex karyotypes.

    Science.gov (United States)

    Lazarian, Gregory; Tausch, Eugen; Eclache, Virginie; Sebaa, Amel; Bianchi, Vincent; Letestu, Remi; Collon, Jean-Francois; Lefebvre, Valerie; Gardano, Laura; Varin-Blank, Nadine; Soussi, Thierry; Stilgenbauer, Stephen; Cymbalista, Florence; Baran-Marszak, Fanny

    2016-10-15

    TP53 abnormalities lead to resistance to purine analogues and are found in over 40% of patients with refractory chronic lymphocytic leukemia (CLL). At diagnosis, no more than 5% of patients carry the 17p deletion, most cases harbour mutations within the other TP53 allele. The incidence of a TP53 mutation as the only alteration is approximately 5%, but this depends on the sensitivity of the technique. Recently, having a complex karyotype has been considered a strong adverse prognostic factor. However, there are no longitudinal studies simultaneously examining the presence of the 17p deletion, TP53 mutations and karyotype abnormalities. We conducted a retrospective longitudinal study of 31 relapsed/refractory CLL patients. Two to six blood samples per patient were analyzed, with a median follow-up of 8 years. In this report, we assessed the sequence of events of TP53 clonal evolution and correlated the presence of TP53 abnormalities to genetic instability during progression and treatment. Next-generation sequencing allowed the early detection of TP53 mutated clones and was able to be performed on a routine basis, demonstrating an excellent correlation between the Illumina and Ion Torrent technologies. We concluded that TP53 mutations are early events and precede clonal evolution to complex karyotypes. We strongly recommend the early and iterated detection of TP53 mutations in progressive cases.

  20. The association with Turner syndrome significantly affects the course of Hashimoto's thyroiditis in children, irrespective of karyotype.

    Science.gov (United States)

    Aversa, Tommaso; Messina, Maria Francesca; Mazzanti, Laura; Salerno, Mariacarolina; Mussa, Alessandro; Faienza, Maria Felicia; Scarano, Emanuela; De Luca, Filippo; Wasniewska, Malgorzata

    2015-12-01

    Only few studies have investigated to now whether the association with Turner syndrome (TS) may affect the course of Hashimoto's thyroiditis (HT) in children. Aim of this study was to ascertain whether the presentation and long-term course of HT in TS children may be characterized by a peculiar and atypical pattern. The clinical and biochemical findings at HT diagnosis in 90 TS children (group A) were compared with those recorded in 449 girls with HT but without TS (group B); in group A patients, thyroid function tests were re-evaluated after a median time interval of 4.9 years. At HT diagnosis median TSH levels and the rate of cases presenting with a thyroid dysfunction picture were significantly lower in group A, irrespective of karyotype abnormalities. In group A only 34.8 % of the girls who had initially presented with euthyroidism remained euthyroid even at re-evaluation, whilst 67.7 % of those who had presented with subclinical hypothyroidism became overtly hypothyroid over time; also such evolutive pattern was irrespective of karyotype abnormalities. (1) In TS girls, HT presents with a milder hormonal pattern, which often deteriorates over time; (2) these biochemical features are not necessarily linked with a specific karyotype.

  1. Case Report: CD19-positive acute myeloblastic leukemia with trisomy 21 as a sole acquired karyotypic abnormality

    Institute of Scientific and Technical Information of China (English)

    Hua-feng WANG; Yi-zhi CHENG; Huan-ping WANG; Zhi-mei CHEN; Ji-yu LOU; Jie JIN

    2009-01-01

    We report that a 63-year-old Chinese female had acute myeloblastic leukemia (AML) in which trisomy 21 (+21) was found as the sole acquired karyotypic abnormality. The blasts were positive for myeloperoxidase, and the immunophenotype was positive for cluster of differentiation 19 (CDI9), CD33, CD34, and human leukocyte antigens (HLA)-DR. The chromosomal analysis of bone marrow showed 47,XX,+21 [2]/46,XX[18]. Fluorescent in situ hybridization (FISH) showed that three copies of AML1 were situated in separate chromosomes, and that t(8;21) was negative. The patient did not have any features of Down syndrome. A diagnosis of CD19-positive AML-M5 was established with trisomy 21 as a sole acquired karyotypic abnormality. The patient did not respond well to chemotherapy and died three months after the diagnosis. This is the first reported case of CD19-positive AM L with trisomy 21 as the sole cytogenetic abnormality. The possible prognostic significance of the finding in AML with +21 as the sole acquired karyotypic abnormality was discussed.

  2. 番红花染色体核型分析%Study on karyotype of Crocus sativus

    Institute of Scientific and Technical Information of China (English)

    宋芸; 乔永刚; 牛颜冰; 刘建东; 仇莎

    2011-01-01

    通过对番红花根尖细胞进行染色体常规制片,并进行核型分析.结果显示,番红花为2倍体(2n=2x=24)植物,核型公式为K(2n)=2x=24=2t+2st+8sm+12m,其中,中部着丝粒染色体(m)6对,近中部着丝粒染色体(sm)4对,近端着丝粒染色体(st)1对,端着丝粒染色体(t)1对.核型类型为2B,并且倍性不是造成番红花不结实的主要原因.%The karyotype of Crocus sativus was analyzed by the chromosomal preparation of its root tip cell. The results showed that the chromosome number was 2n = 24 and its karyotype formula was K(2n) = 2x = 24 = 2t+2st+8sm+ 12m. There were six pairs of metacentric chromosome, four pairs of sub-metacentric chromosome, one pair of acrocentric chromosome and one pair of telocentric chromosome. The karyotype of Crocus sativus belonged to "2B" of Stebbins. The ploidy of saffron was not the reason of the sterility.

  3. Molecular karyotype and chromosomal localization of genes encoding ß-tubulin, cysteine proteinase, hsp 70 and actin in Trypanosoma rangeli

    Directory of Open Access Journals (Sweden)

    CB Toaldo

    2001-01-01

    Full Text Available The molecular karyotype of nine Trypanosoma rangeli strains was analyzed by contour-clamped homogeneous electric field electrophoresis, followed by the chromosomal localization of ß-tubulin, cysteine proteinase, 70 kDa heat shock protein (hsp 70 and actin genes. The T. rangeli strains were isolated from either insects or mammals from El Salvador, Honduras, Venezuela, Colombia, Panama and southern Brazil. Also, T. cruzi CL-Brener clone was included for comparison. Despite the great similarity observed among strains from Brazil, the molecular karyotype of all T. rangeli strains analyzed revealed extensive chromosome polymorphism. In addition, it was possible to distinguish T. rangeli from T. cruzi by the chromosomal DNA electrophoresis pattern. The localization of ß-tubulin genes revealed differences among T. rangeli strains and confirmed the similarity between the isolates from Brazil. Hybridization assays using probes directed to the cysteine proteinase, hsp 70 and actin genes discriminated T. rangeli from T. cruzi, proving that these genes are useful molecular markers for the differential diagnosis between these two species. Numerical analysis based on the molecular karyotype data revealed a high degree of polymorphism among T. rangeli strains isolated from southern Brazil and strains isolated from Central and the northern South America. The T. cruzi reference strain was not clustered with any T. rangeli strain.

  4. Karyotyping of Brassica oleracea L.based on rDNA and Cot-1 DNA fluorescence in situ hybridization

    Institute of Scientific and Technical Information of China (English)

    WANG Taixia; WU Chunhong; HUANG Jinyong; WEI Wenhui

    2007-01-01

    To explore an effective and reliable karyotyping method in Brassica crop plants,Cot-1 DNA was isolated from Brassica oleracea genome,labeled as probe with Biotin-Nick Translation Mix kit,in situ hybridized to mitotic spreads,and where specific fluorescent bands showed on each chromosome pair.25S and 5S rDNA were labeled as probes with DIG-Nick Translation Mix kit and Biotin-Nick Translation Mix kit,respectively,in situ hybridized to mitotic preparations,where 25S rDNA could be detected on two chromosome pairs and 5S rDNA on only one.Cot-1 DNA contains rDNA and chromosome sites identity between Cot-1 DNA and 25S rDNA was determined by dual-colour fluorescence in situ hybridization.All these showed that the karyotyping technique based on a combination of rDNA and Cot-1 DNA chromosome landmarks is superior to all but one.A more exact karyotype ofB.oleracea has been analyzed based on a combination of rDNA sites,Cot-1 DNA fluorescent bands,chromosome lengths and arm ratios.

  5. Karyotypes of Akodon orophilus Osgood 1913 and Thomasomys sp. (Rodentia: Sigmodontinae from Huánuco, Peru

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    Víctor Pacheco

    2012-10-01

    Full Text Available Conventional chromosomal preparations were made of three native mice from Huánuco, Peru: a male and a female of Thomasomys sp., and a male of Akodon orophilus. Thomasomys sp. had a karyotype of 2n = 42, XY (n = 21, meanwhile A. orophilus presented 2n = 22, XY (n = 11. Comparisons between chromosomal pairs from the existent literature indicate that both are new karyotypes. Thomasomys sp. has a distinct sexual Y chromosome, the only metacentric (m reported for the genus. The chromosomes X and Y of A. orophilus are acrocentrics (a; and the length of chromosome Y (2/3 of the length of X distinguishes A. orophilus from other congeneric. Because the structural differences between the sexual chromosomes usually generates mechanism of reproductive isolation at intraspecific level and are bigger still in interspecific crosses, we concluded that the karyotypes reported here support the validity of the species A. orophilus and suggest that Thomasomys sp. represents a new species to science.

  6. Chromosomal Microarray Analysis in Fetuses with Growth Restriction and Normal Karyotype: A Systematic Review and Meta-Analysis.

    Science.gov (United States)

    Borrell, Antoni; Grande, Maribel; Pauta, Montse; Rodriguez-Revenga, Laia; Figueras, Francesc

    2017-09-09

    To perform a systematic review of the literature and a meta-analysis to estimate the incremental yield of chromosomal microarray analysis (CMA) over karyotyping in fetal growth restriction (FGR). This was a systematic review conducted in accordance with the PRISMA criteria. All articles identified in PubMed, Ovid Medline, and ISI Web of Knowledge (Web of Science) from January 2009 to November 2016 describing pathogenic copy number variants (CNVs) in fetuses with growth restriction were included. Case reports were excluded. Risk differences were pooled to estimate the overall and stratified CMA incremental yield. Ten studies with full data available met the inclusion criteria for analysis. Combined data from these studies revealed a 4% (95% confidence interval [CI] 1-6%) incremental yield of CMA over karyotyping in nonmalformed growth-restricted fetuses, and a 10% (95% CI 6-14%) incremental yield in FGR when associated with fetal malformations. The most frequently found pathogenic CNVs were 22q11.2 duplication, Xp22.3 deletion, and 7q11.23 deletion (Williams-Beuren syndrome), particularly in isolated FGR. The use of genomic CMA provides a 4% incremental yield of detecting pathogenic CNVs in fetuses with isolated growth restriction and normal karyotype. © 2017 S. Karger AG, Basel.

  7. Karyotype analysis in large-sample infertile couples living in Central China: a study of 14965 couples.

    Science.gov (United States)

    Liu, Yan; Kong, Xiang-dong; Wu, Qing-hua; Li, Gang; Song, Lin; Sun, Ying-Pu

    2013-04-01

    To explore that it is necessary to routinely detect chromosomes in fertile couples, we detected peripheral blood lymphocyte karyotype in 14965 infertile couples living in Central China and analyzed the incidence and type of chromosomal anomaly. G-banding karyotype analysis of peripheral blood lymphocytes was performed in 14965 couples who went to the outpatient department of our reproductive medical center for counseling on infertility between January 2004 and December 2011. Semen analysis was performed three times in all the men from the 14965 couples. The rate of chromosomal anomaly in the 14965 infertile couples was 3.84 % (1150/29930). The rate of chromosomal anomaly in the men from 14965 couples was 6.84 % (1024/14965) and in the women 0.84 % (126/14965). The rates of chromosomal anomaly were 1.69 % in normal semen group, 11.82 % in light oligo-astheno-spermis group, 6.58 % in moderate to severe olig-astheno-spermia group and 17.26 % in azoospermia group. Since the rates of chromosomal anomaly are 1.69 % and 11.82 % even in normal semen group and light oligo-astheno-spermia group, respectively, it is necessary to detect peripheral blood lymphocyte karyotype in all infertile couples.

  8. Karyotypic Evolution in Malagasy Flying Foxes (Pteropodidae, Chiroptera) and Their Hipposiderid Relatives as Determined by Comparative Chromosome Painting.

    Science.gov (United States)

    Richards, Leigh R; Rambau, Ramugondo V; Goodman, Steven M; Taylor, Peter J; Schoeman, M Corrie; Yang, Fengtang; Lamb, Jennifer M

    2016-01-01

    Pteropodidae and Hipposideridae are 2 of the 9 chiropteran families that occur on Madagascar. Despite major advancements in the systematic study of the island's bat fauna, few karyotypic data exist for endemic species. We utilized G- and C-banding in combination with chromosome painting with Myotismyotis probes to establish a genome-wide homology among Malagasy species belonging to the families Pteropodidae (Pteropus rufus 2n = 38; Rousettus madagascariensis, 2n = 36), Hipposideridae (Hipposideros commersoni s.s., 2n = 52), and a single South African representative of the Rhinolophidae (Rhinolophus clivosus, 2n = 58). Painting probes of M. myotis detected 26, 28, 28, and 29 regions of homology in R. madagascariensis, P. rufus, H. commersoni s.s, and R. clivosus, respectively. Translocations, pericentric inversions, and heterochromatin additions were responsible for karyotypic differences amongst the Malagasy pteropodids. Comparative chromosome painting revealed a novel pericentric inversion on P. rufus chromosome 4. Chromosomal characters suggest a close evolutionary relationship between Rousettus and Pteropus. H. commersoni s.s. shared several chromosomal characters with extralimital congeners but did not exhibit 2 chromosomal synapomorphies proposed for Hipposideridae. This study provides further insight into the ancestral karyotypes of pteropodid and hipposiderid bats and corroborates certain molecular phylogenetic hypotheses.

  9. Female genital mutilation of a karyotypic male presenting as a female with delayed puberty

    Directory of Open Access Journals (Sweden)

    Gisselsson D

    2006-03-01

    Full Text Available Abstract Background Female genital mutilation (FGM is commonly practiced mainly in a belt reaching from East to West Africa north of the equator. The practice is known across socio-economic classes and among different ethnic, religious, and cultural groups. Few studies have been appropriately designed to measure the health effects of FGM. However, the outcome of FGM on intersex individuals has never been discussed before. Case presentation The patient first presented as a female with delayed puberty. Hormonal analysis revealed a normal serum prolactin level of 215 Mu/L, a low FSH of 0.5 Mu/L, and a low LH of 1.1 Mu/L. Type IV FGM (Pharaonic circumcision had been performed during childhood. Chromosomal analysis showed a 46, XY karyotype and ultrasonography verified a soft tissue structure in the position of the prostate. Conclusion FGM pose a threat to the diagnosis and management of children with abnormal genital development in the Sudan and similar societies.

  10. Viability of lymphocyte culture, at different times after blood collection, for karyotype analysis

    Directory of Open Access Journals (Sweden)

    Ligia Maria Crubelati Bulla

    2014-04-01

    Full Text Available Introduction:Cytogenetics is the area of genetics that studies chromosomes, including numerical changes, and their relationship to structural imbalances. Among the classical cytogenetics tests, the GTG banding karyotype is the most widely used. The period of culture establishment is a critical step, which can affect the pre-analytical phase of the test.Objective:To evaluate, at different establishment times, culture viability and banding resolution.Material and methods:Collection of 10 ml blood from 10 subjects was carried out for culture analysis. For viability analysis, mitotic index (MI and banding resolution were assessed. Results: The comparative analysis of MI showed significant difference between times. In the assessment of banding resolution, the mean value of the bands was higher at times zero and 24 hour.Discussion:The MI reflects inhibition of cell cycle progression and/or loss of ability to proliferate. When the pair analysis was performed, a difference between zero and 48 hours was observed. The average number of bands analyzed at times zero and 24 hours did not indicate difference in the quantity and quality of the bands when cultures were grown immediately after blood collection or within 24 hours. At the 48th hour after blood collection significant reduction of band resolution was observed.Conclusion:These data highlight the importance of the biological material quality, as viability is lower when the culture is grown after 24 hours, as well as the banding resolution.

  11. SNPs array karyotyping reveals a novel recurrent 20p13 amplification in primary myelofibrosis.

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    Giuseppe Visani

    Full Text Available The molecular pathogenesis of primary mielofibrosis (PMF is still largely unknown. Recently, single-nucleotide polymorphism arrays (SNP-A allowed for genome-wide profiling of copy-number alterations and acquired uniparental disomy (aUPD at high-resolution. In this study we analyzed 20 PMF patients using the Genome-Wide Human SNP Array 6.0 in order to identify novel recurrent genomic abnormalities. We observed a complex karyotype in all cases, detecting all the previously reported lesions (del(5q, del(20q, del(13q, +8, aUPD at 9p24 and abnormalities on chromosome 1. In addition, we identified several novel cryptic lesions. In particular, we found a recurrent alteration involving cytoband 20p13 in 55% of patients. We defined a minimal affected region (MAR, an amplification of 9,911 base-pair (bp overlapping the SIRPB1 gene locus. Noteworthy, by extending the analysis to the adjacent areas, the cytoband was overall affected in 95% of cases. Remarkably, these results were confirmed by real-time PCR and validated in silico in a large independent series of myeloproliferative diseases. Finally, by immunohistochemistry we found that SIRPB1 was over-expressed in the bone marrow of PMF patients carrying 20p13 amplification. In conclusion, we identified a novel highly recurrent genomic lesion in PMF patients, which definitely warrant further functional and clinical characterization.

  12. Reduced size of the amygdala in individuals with 47,XXY and 47,XXX karyotypes.

    Science.gov (United States)

    Patwardhan, Anil J; Brown, Wendy E; Bender, Bruce G; Linden, Mary G; Eliez, Stephan; Reiss, Allan L

    2002-01-08

    The excess of 47,XXX and 47,XXY karyotypes found in cytogenetic screening studies of individuals with schizophrenia has given support for an increased risk of psychiatric illness among men and women with sex chromosomal aneuploidy (SCA). Mesial temporal lobe structures, including the amygdala and hippocampus, are thought to be associated with abnormalities of mood and behavior in humans and in the neurobiology of schizophrenia. This study focuses on variations in volumes of mesial temporal lobe structures in men and women with SCA. Utilizing an unselected birth cohort of subjects with SCA and high-resolution magnetic resonance imaging (MRI), we investigated the neuroanatomical consequences of a supernumerary X chromosome on the morphology of the amygdala and hippocampus. Regional and total brain volumes were measured in 10 subjects with 47,XXY, 10 subjects with 47,XXX, and 20 euploid controls. Amygdala volumes were significantly reduced in men with 47,XXY, compared to control men, while the decrease in women with 47,XXX was not as pronounced. Hippocampus volumes were preserved in both groups, compared to same-gender controls. Longitudinal studies of SCA individuals have shown an increased incidence of mild psychopathology and behavioral dysfunction in men with 47,XXY and more overt psychiatric illness in women with 47,XXX, compared to control populations. The alteration in amygdala volumes in individuals with a supernumerary X chromosome may provide a neuroanatomic basis for these findings.

  13. Sex Chromosome Mosaicism in the Gonads of DSD Patients: A Karyotype/Phenotype Correlation.

    Science.gov (United States)

    Kamel, Alaa K; Abd El-Ghany, Hoda M; Mekkawy, Mona K; Makhlouf, Manal M; Mazen, Inas M; El Dessouky, Nabil; Mahmoud, Wael; Abd El Kader, Shereen A

    2015-01-01

    Sex chromosome mosaicism results in a large clinical spectrum of disorders of sexual development (DSD). The percentage of 45,X cells in the developing gonad plays a major role in sex determination. However, few reports on the gonadal mosaic status have been published, and the phenotype is usually correlated with peripheral lymphocyte karyotypes, which makes the phenotype prediction imprecise. This study was conducted on 7 Egyptian DSD patients to demonstrate the effect of sex chromosome constitution of both blood lymphocytes and gonadal tissues on the phenotypic manifestations. Conventional cytogenetic and FISH analyses of blood lymphocytes were conducted, and laparoscopy with gonadal biopsy was performed for histopathologic examination and FISH analysis. Gonosomal mosaicism was detected in 3 patients who had a non-mosaic chromosome pattern in blood lymphocytes. Two patients showed the same type of sex chromosome mosaicism in both the blood and gonadal tissues but with different distributions. Two other patients revealed a non-mosaic pattern in both tissues. The present study elucidates the importance of examining sex chromosome mosaicism in gonadal tissues of DSD patients and highlights the critical role of 45,X mosaicism which can lead to serious effects during early gonadal organogenesis.

  14. Karyotype, heterochromatin distribution and meiosis of Zabrotes subfasciatus (Bohemann) (Coleoptera: Chrysomelidae, Bruchinae)

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    Correa, Ronan X.; Santos, Igor S.; Silva, Janisete G.; Costa, Marco A. [Universidade Estadual de Santa Cruz, Ilheus, BA (Brazil). Dept. de Ciencias Biologicas; Pompolo, Silvia G. [Universidade Federal de Vicosa, MG (Brazil). Dept. de Biologia Geral

    2008-09-15

    Zabrotes subfasciatus (Boh.) has been extensively studied in its agronomic and biochemical aspects due to its importance as a damaging insect to leguminous grains during storage. The few cytogenetic studies published on this species yielded conflicting results. In this study, the karyotype was analyzed in order to accurately describe the chromosome C-banding patterns and meiosis. The brain ganglion at the pre pupa and the adult and pupal testes were analyzed. All individuals had 26 chromosomes in both brain ganglion and spermatogonic mitotic metaphases. These chromosomes were classified as follows: the 12{sup th} pair and the Y chromosome were telocentric; the X chromosome was acrocentric; the 4{sup th} and 5{sup th} pairs were sub metacentric; and the remaining pairs were all metacentric. One of the members of the 5{sup th} pair presented a secondary constriction. All chromosomes presented pericentromeric heterochromatin. The large arms of the pairs 5, 9 and X presented heterochromatin. The X chromosome showed to be heteropyknotic throughout the prophase of the fi rst meiotic division. The sub phases of prophase I were atypical and meiosis II was rarely identified. Testes of all males showed a few cells; the bivalents were rod-like shaped in metaphase I. Karyological formulae were 2n = 24 + XX in females and 2n = 24 + XYp and either n = 12 + X or n = 12 + Y in males. (author)

  15. Systemic neonatal candidosis: the karyotyping of Candida albicans strains isolated from neonates and health-workers.

    Science.gov (United States)

    Ben Abdeljelil, J; Ben Saida, N; Saghrouni, F; Fathallah, A; Boukadida, J; Sboui, H; Ben Said, M

    2010-01-01

    Candida albicans has become an important cause of nosocomial infections in neonatal intensive care units (NICUs). The aim of the present study was to compare C. albicans strains isolated from neonates (NN) suffering from systemic candidosis and from nurses in order to determine the relatedness between NN and health workers' strains. Thirty-one C. albicans strains were isolated from 18 NN admitted to the NICU of the neonatology service of Farhat Hached Hospital of Sousse, Tunisia and suffering from systemic candidosis, together with five strains recovered from nurses suffering from C. albicans onychomycosis. Two additional strains were tested, one from an adult patient who developed a systemic candidosis and the second from an adult with inguinal intertrigo. All strains were karyotyped by pulsed-field gel electrophoresis (PFGE) with a CHEF-DR II system. Analysis of PFGE patterns yielded by the 38 strains tested led to the identification of three pulsotypes that were designated I, II and III, and consisted of six chromosomal bands with a size ranging from 700 to >2500 kbp. The most widespread was the pulsotype I, which was shared by 17 NN and the five nurses' strains. The identity between NN and nurses' strains is very suggestive of a nosocomial acquisition from health-workers.

  16. The origin of the extra Y chromosome in males with a 47,XYY karyotype.

    Science.gov (United States)

    Robinson, D O; Jacobs, P A

    1999-11-01

    The presence of an extra Y chromosome in males is a relatively common occurrence, the 47,XYY karyotype being found in approximately 1 in 1000 male births. The error of disjunction must occur either during paternal meiosis II or as a post-zygotic mitotic error, both of which are rare events for other chromosomes. It is therefore of interest to determine when errors of Y chromosome disjunction occur. It is possible to distinguish between the different mechanisms of non-disjunction by analysing DNA polymorphisms at the distal tip of the Xp/Yp pseudoautosomal region in 47,XYY males, their parents and in some cases paternal grandparents. A cohort of 28 non-mosaic 47,XYY males was analysed. The results show that there are at least two mechanisms causing non-disjunction of the Y chromosome. In 16 of the 19 cases from which parents were available, the extra Y was generated by non-disjunction at meiosis II after a normal chiasmate meiosis I. Three cases were due to either a post-zygotic mitotic error or non-disjunction at meiosis II after a nullichiasmate meiosis I. Of the nine cases with no parental DNA available, at least four were due to meiosis II non-disjunction following a normal chiasmate meiosis I.

  17. Description of the karyotype of Rhagomys rufescens Thomas, 1886 (Rodentia, Sigmodontinae from Southern Brazil Atlantic forest

    Directory of Open Access Journals (Sweden)

    André Filipe Testoni

    2010-01-01

    Full Text Available Rhagomys rufescens (Rodentia: Sigmodontinae is an endemic species of the Atlantic forest from Southern and Southeastern Brazil. Some authors consider Rhagomys as part of the tribe Thomasomyini; but its phylogenetic relationships remain unclear. Chromosomal studies on eight specimens of Rhagomys rufescens revealed a diploid number of 2n = 36 and a number of autosome arms FN = 50. GTG, CBG and Ag-NOR banding and CMA3/DAPI staining were performed on metaphase chromosomes. Eight biarmed and nine acrocentric pairs were found in the karyotype of this species. The X and Y chromosomes were both acrocentric. Most of the autosomes and the sex chromosomes showed positive C-bands in the pericentromeric region. The X chromosome showed an additional heterochromatic block in the proximal region of the long arm. Nucleolus organizer regions (NORs were located in the pericentromeric region of three biarmed autosomes (pairs 4, 6 and 8 and in the telomeric region of the short arm of three acrocentrics (pairs 10, 12 and 17. CMA3/DAPI staining produced fluorescent signals in many autosomes, especially in pairs 4, 6, and 8. This study presents cytogenetic data of Rhagomys rufescens for the first time.

  18. A new karyotype of Calomyscus from the Khorasan Province, Iran

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    Esmaeeli Somayeh

    2008-07-01

    Full Text Available Abstract We report a new karyotype of Calomyscus from two localities of the Khorasan Province (Aghdarband, 36° 11’ 3”N, 60° 44’ 6” E and Khajemorad, 36° 8’ 5” N, 59° 41’ 58” E. Chromosomes were examined by conventional staining and C-banding techniques. The diploid chromosome number (2n and the fundamental autosomal arm number (FNa were 44 and 60 respectively. The autosomal set consisted of 12 pairs of telocentrics, 5 pairs of acrocentrics and 4 pairs of sub-metacentrics. Both heterosomes were small telocentrics. Riassunto Un nuovo cariotipo del genere Calomyscus dalla provincia di Khorasan, Iran. Si descrive un nuovo cariotipo appartenente al genere Calomyscus, scoperto in due località della provincia di Khorasan (Aghdarband, 36° 11’ 3”N, 60° 44’ 6” E e Khajemorad, 36° 8’ 5” N, 59° 41’ 58” E. I cromosomi sono stati analizzati con le tecniche standard di colorazione e bandeggio. Il numero diploide di cromosomi (2n e il numero fondamentale di bracci autosomici sono risultati pari a 44 e 60 rispettivamente. Il set di cromosomi autosomici è composto da 12 paia di telocentrici, 5 di acrocentrici e 4 di sub-metacentrici. Entrambi i cromosomi sessuali si presentano come piccoli telocentrici.

  19. Heterochromatin patterns and karyotype relationships within and between the genera Brycon and Salminus (Pisces, Characidae

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    Vladimir Pavan Margarido

    1999-09-01

    Full Text Available Chromosomes of two Brycon species (B. lundii and B. microlepis and Salminus hilarii were analyzed. Based on constitutive heterochromatin distribution patterns, karyotypic relationships within and between Bryconinae and Salmininae were examined. A monophyletic origin for the genus Brycon, comprising at least two chromosome synapomorphies (presence of two large submetacentric bearing paracentromeric and telomeric heterochromatin, is suggested. Moreover, Bryconinae and Salmininae may represent a monophyletic unit among Characidae, as they share several chromosome features.Foram analisados os cromossomos de duas espécies de peixes do gênero Brycon (B. lundii e B. microlepis e de Salminus hilarii. Principalmente baseado no padrão de distribuição da heterocromatina constitutiva, foram discutidas as relações cariotípicas dentro e entre os grupos Bryconinae e Salmininae. É sugerida uma origem monofilética para o gênero Brycon, com pelo menos duas sinapomorfias cromossômicas (presença de dois grandes submetacêntricos apresentando blocos pericentromérico e telomérico de heterocromatina constitutiva. Ainda, Bryconinae e Salmininae, compartilhando vários caracteres cromossômicos, podem formar uma unidade monofilética entre os Characidae, na qual outros caracídeos não estão incluídos.

  20. Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype.

    Science.gov (United States)

    Al-Achkar, Walid; Wafa, Abdulsamad; Liehr, Thomas; Klein, Elisabeth; Moassass, Faten

    2012-08-01

    Abnormalities involving sex chromosomes account for approximately 0.5% of live births. The phenotypes of individuals with mosaic cell lines that exhibit structural aberrations of the X and Y chromosomes are variable and difficult to predict. Phenotypes associated with sex chromosome mosaicism vary from females with Turner syndrome to males with infertility, and include individuals with ambiguous genitalia. In this study, we report a 17-year-old male with phenotypic features of Klinefelter syndrome with an isodicentric Y chromosome and a final karyotype of 45,X[4]/46,X,idic(Y)(q11.21)[95]/47,XX,+idic(Y)(q11.21)[1]. Application of high resolution molecular cytogenetic techniques as well as molecular studies revealed two copies of the sex-determining region of Y chromosome (SRY) gene and two centromers. Additionally, the breakpoint in Yq11.21 was narrowed down between positions 13.4 and 14.3 MB (hg18). We present a patient with partial disomy of Ypter to Yq11.21 in the majority of the patient cells, showing phenotypic features of Klinefelter syndrome. The syndrome may have occurred due to a more prominent presence of the cell line 47,XX,+idic(Y)(q11.21) detected only once in 1% of the peripheral blood cells. This finding may prove helpful in similar cases with symptoms of Klinefelter syndrome, but which exhibit an absence of the cell line 47,XXY in peripheral blood.