Frequencies of eleven BRCA1 and BRCA2 mutations in random sample of russian breast cancer patients

In this study we were aiming to determine frequencies ot eleven known mutations in BRCA1 (185delAG, 4153delA, 5382insC, 3819delGTAAA, 3875delGTCT, Cys61 Gly, 2080delA, 2963del10) and BRCA2 (6174delT, 1528delAAAA, 9318delAAAA) in random sample of patients with breast cancer, Russian population (1091 cases). We found 64 mutation carriers (5,87%), primerily with 5382insC (BRCA1) mutation - 4,03% from the sample. We did not detect three mutations: 2963del10 (BRCA1), 1528delAAAA (BRCA2) and 9318delAAAA (BRCA2). We revealed 11 mutation carriers among patients without any anamnesis data supposing hereditary form of breast cancer. Taking into account the range of analyzed random sample and diagnostic panel and detection of listed below mutations in other Russian studies, we assume mutations in BRCA1 (185delAG, 4153delA, 5382insC, 3819delGTAAA, 3875delGTCT, 300T>G (Cys61Gly), 2080delA) and BRCA2 (6174delT) tests could be recommended for inclusion in screening programs for revelation of hereditary breast cancer cases.Целью работы было установление частот встречаемости одиннадцати ранее описанных мутаций в генах BRCA1 (185delAG, 4153delA, 5382insC, 3819delGTAAA, 3875delGTCT, Cys61Gly, 2080delA, 2963del10) и BRCA2 (6174delT, 1528delAAAA, 9318delAAAA) в неотобранной выборке больных раком молочной железы в Российской популяции (1091 человек). Мутации были найдены у 64 человек (5,87%), преобладала мутация 5382insC (BRCA1) -4,03% от выборки. Мутации 2963del10 (BRCA1), 1528delAAAA (BRCA2) и 9318delAAAA (BRCA2) не были обнаружены. В результате исследования выявлено 11 пациенток с мутацией в BRCA1 или BRCA2 без каких-либо данных в анамнезе, позволяющих предположить наследственную форму рака молочной железы. Учитывая размер тестированной неотобранной выборки, широту диагностической панели и нахождение зарегистрированных нами мутаций другими авторами, анализ на мутации в генах BRCA1 (185delAG, 4153delA, 5382insC, 3819delGTAAA, 3875delGTCT, 300T>G (Cys61Gly), 2080delA) и BRCA2 (6174delT) может быть рекомендован для включения в скрининговые программы по выявлению наследственных случаев рака молочной железы

Functional analysis and expression profiling of HcrVf1 and HcrVf2 for development of scab resistant cisgenic and intragenic apples

Apple scab resistance genes, HcrVf1 and HcrVf2, were isolated including their native promoter, coding and terminator sequences. Two fragment lengths (short and long) of the native gene promoters and the strong apple rubisco gene promoter (PMdRbc) were used for both HcrVf genes to test their effect on expression and phenotype. The scab susceptible cultivar ‘Gala’ was used for plant transformations and after selection of transformants, they were micrografted onto apple seedling rootstocks for scab disease tests. Apple transformants were also tested for HcrVf expression by quantitative RT-PCR (qRT-PCR). For HcrVf1 the long native promoter gave significantly higher expression that the short one; in case of HcrVf2 the difference between the two was not significant. The apple rubisco gene promoter proved to give the highest expression of both HcrVf1 and HcrVf2. The top four expanding leaves were used initially for inoculation with monoconidial isolate EU-B05 which belongs to race 1 of V. inaequalis. Later six other V. inaequalis isolates were used to study the resistance spectra of the individual HcrVf genes. The scab disease assays showed that HcrVf1 did not give resistance against any of the isolates tested regardless of the expression level. The HcrVf2 gene appeared to be the only functional gene for resistance against Vf avirulent isolates of V. inaequalis. HcrVf2 did not provide any resistance to Vf virulent strains, even not in case of overexpression. In conclusion, transformants carrying the apple-derived HcrVf2 gene in a cisgenic as well as in an intragenic configuration were able to reach scab resistance levels comparable to the Vf resistant control cultivar obtained by classical breeding, cv. ‘Santana’

Transcriptomic Analyses Reveal Novel Genes with Sexually Dimorphic Expression in the Zebrafish Gonad and Brain

Background Our knowledge on zebrafish reproduction is very limited. We generated a gonad-derived cDNA microarray from zebrafish and used it to analyze large-scale gene expression profiles in adult gonads and other organs. Methodology/Principal Findings We have identified 116638 gonad-derived zebrafish expressed sequence tags (ESTs), 21% of which were isolated in our lab. Following in silico normalization, we constructed a gonad-derived microarray comprising 6370 unique, full-length cDNAs from differentiating and adult gonads. Labeled targets from adult gonad, brain, kidney and ‘rest-of-body’ from both sexes were hybridized onto the microarray. Our analyses revealed 1366, 881 and 656 differentially expressed transcripts (34.7% novel) that showed highest expression in ovary, testis and both gonads respectively. Hierarchical clustering showed correlation of the two gonadal transcriptomes and their similarities to those of the brains. In addition, we have identified 276 genes showing sexually dimorphic expression both between the brains and between the gonads. By in situ hybridization, we showed that the gonadal transcripts with the strongest array signal intensities were germline-expressed. We found that five members of the GTP-binding septin gene family, from which only one member (septin 4) has previously been implicated in reproduction in mice, were all strongly expressed in the gonads. Conclusions/Significance We have generated a gonad-derived zebrafish cDNA microarray and demonstrated its usefulness in identifying genes with sexually dimorphic co-expression in both the gonads and the brains. We have also provided the first evidence of large-scale differential gene expression between female and male brains of a teleost. Our microarray would be useful for studying gonad development, differentiation and function not only in zebrafish but also in related teleosts via cross-species hybridizations. Since several genes have been shown to play similar roles in gonadogenesis in zebrafish and other vertebrates, our array may even provide information on genetic disorders affecting gonadal phenotypes and fertility in mammals

Managing of the baking bread process based on mathematical model of change crust color dynamics

In this article a support system of making decision about control of baking process of bread on the basis of estimating the quality ( the colors of the product surface and the mathematical model of the dynamics of change in this indicator) is offered

IDENTIFICATION OF THE MASS DISTRIBUTIONS OF THE MILK FAT PHASE USING UNIVERSAL PEARSON DISTRIBUTIONS

In this paper we consider the problem of approximating the experimental values of the coefficient of attenuation of ultrasonic oscillations and the mass distribution of the fat globules in the milk and milk products. The analysis of experimental data in terms of the choice of the method of approximation was done. A approximating dependence is based on the solution of Pearson differential equations. The advantages of the proposed method for the type of approximation of the experimental data obtained. An algorithm for constructing a mathematical model describing the relaxation spectrum and mass distribution of the fat globules in the milk and milk products was implemented. As a result, a family of Pearson approximation curves of the experimental data shows the ability to qualitatively correctly describe the change in the distribution of the fat phase in the process of homogenization. It estimates the error of approximating dependence, which amounted to 18 %. It is shown that during of the process of homogenization of dairy products changes shape of the curve describing the distribution of the fat globules, in view of the fact that there is a local extremum, caused by the presence of the non-homogenized fat globules. The accuracy of the selected mathematical model is significantly reduced. At the same time, it loses its physical meaning and its parameters. To address the identified deviations in the proposed mass distribution of fat globules as a function with two modes. It is proved that the complexity of the model is not only doubles the number of its parameters, but also complicates the interpretation of measurement results in a control system, and makes it difficult to analyze the obtained parameters of approximation by decision-maker. As a result of approximation of experimental data suggested to use statistical moments of the distribution for problem decision

USING OF COMPLEX HARMONIOUS SIGNALS IN PROBLEMS OF ACOUSTIC SPECTROMETRY OF POLYMERS

Summary. In article features of definition of acoustic properties of polymers with application of ultrasonic fluctuations are considered. The opportunity of definition with single method of such parameters of quality as a relaxation spectra of polymer and function of molecular-mass distribution in a solution that results in increase in time of carrying out of measurements is shown. For reduction of time, may use narrowing of a range of frequencies of the ultrasonic fluctuations rendered on the measured sample, or increase the step of quantization of a registered signal with the oscillograph. Thus both variants result in reduction in reliability of the received information because of a possible extends for limits of an effective frequency range or loss of a high-frequency component of a registered signal at increase in a step of quantization. For the decision of the listed problems it is offered to use the complex harmonious signal being superposition of several signals. Frequency is necessary for choosing proceeding from sensitivity of each determined polymer parameter of quality. On concrete examples it is shown, that sensitivity of such parameters of quality as strength and viscosity on Mooney essentially depends on frequency. For initial research, in a case when properties of a material beforehand are not known and it is necessary to reveal effective ranges of frequencies, for each determined property of a material, it is offered to use a signal such as «white noise» which will allow to reveal ranges of frequencies with the greatest sensitivity each measured parameter of quality. That, it is in turn connected to uniform distribution of spectral making frequencies on all possible frequency range. Necessity for definition of an effective range of time of registration and a step of quantization for a kind of limitation of technical opportunities of means of registration of electric signals (oscillographs) is shown

MATHEMATICAL MODEL OF A CRUST COLOR DYNAMICS OF BAKERY PRODUCTS IN THE BATCH PROCESS

In article the mathematical model describing of a crust color dynamics of bakery product and its temperature in the batch process is offered. Parametrical identification of model on an example of a test preparation batch is considered and adequacy of mathematical model is shown

ALGORITHM FOR ESTIMATING THE TIME WINDOW SIGNAL " WHITE NOISE" IN THE PROBLEMS OF ACOUSTIC SPECTROMETRY ELASTOMERS

Summary. In article the problem of choice of an optimum time interval and a quantization step at measurement of spectral characteristics of objects with using «white noise» signal with restrictions by technical possibilities of signal registration is considered. In the application of "white noise" as a stationary perturbing signal problems arise with the presence of distortions in the frequency spectrum due to the limited resolution of the digital recording device. When used in experimental studies of digital technology there is the possibility of distortion due to restrictions on the time signal "white noise" for a fixed number of points of the signal due to limited recording memory oscilloscope. For small time intervals distortion occurs in the low frequency region of the spectrum and at large intervals signal is distorted in the high-frequency area due to the lower sampling rate and, accordingly, the loss of information. To minimize distortions in the spectrum of the emitted signal it is proposed selection algorithm of the time window signal type "white noise" fixed (in the sense of the amount of sampling points) in terms of sample tasks for acoustic spectrometry based on the estimation of parameters of a linear function that approximates the spectrum and characterizing the linear trend

AUTOMATED PROCESSING OF DAIRY PRODUCT MICROPHOTOS USING IMAGEJ AND STATISTICA

Summary. The article discusses the construction of algorithms for automated processing of microphotos of dairy products. Automated processing of micro photos of dairy products relevant in the study of the degree of homogenization. Microphotos of dairy products contain information about the distribution of fat globules in the mass fractions. Today, there are some of software products, offering image processing and relieving researchers from routine operations manual data processing. But it need to be adapted for performing the processing of microphotos of dairy products. In this paper we propose to use for processing the application package ImageJ for processing image files taken with digital microscope, and to calculate the statistical characteristics of the proposed use of the software package Statistica. Processing algorithm consists of successive stages of conversion to gray scale, scaling, filtering, binarization, object recognition and statistical processing of the results of recognition. The result of the implemented data processing algorithms is the distribution function of the fat globules in terms of volume or mass fraction, as well as the statistical parameters of the distribution (the mathematical expectation, variance, skewness and kurtosis coefficients). For the inspection of the algorithm and its debugging experimental studieswere carried out. Carries out the homogenization of farm milk at different pressures of homogenization. For each sample were made microphoto sand image processing carried out in accordance with the proposed algorithm. Studies have shown the effectiveness and feasibility of the proposed algorithm in the form of java script for ImageJ and then send the data to a file for the software package Statistica