• Title/Summary/Keyword: Genetic testing

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Effects of infill walls on RC buildings under time history loading using genetic programming and neuro-fuzzy

  • Kose, M. Metin;Kayadelen, Cafer
    • Structural Engineering and Mechanics
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    • v.47 no.3
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    • pp.401-419
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    • 2013
  • In this study, the efficiency of adaptive neuro-fuzzy inference system (ANFIS) and genetic expression programming (GEP) in predicting the effects of infill walls on base reactions and roof drift of reinforced concrete frames were investigated. Current standards generally consider weight and fundamental period of structures in predicting base reactions and roof drift of structures by neglecting numbers of floors, bays, shear walls and infilled bays. Number of stories, number of bays in x and y directions, ratio of shear wall areas to the floor area, ratio of bays with infilled walls to total number bays and existence of open story were selected as parameters in GEP and ANFIS modeling. GEP and ANFIS have been widely used as alternative approaches to model complex systems. The effects of these parameters on base reactions and roof drift of RC frames were studied using 3D finite element method on 216 building models. Results obtained from 3D FEM models were used to in training and testing ANFIS and GEP models. In ANFIS and GEP models, number of floors, number of bays, ratio of shear walls and ratio of infilled bays were selected as input parameters, and base reactions and roof drifts were selected as output parameters. Results showed that the ANFIS and GEP models are capable of accurately predicting the base reactions and roof drifts of RC frames used in the training and testing phase of the study. The GEP model results better prediction compared to ANFIS model.

DNA testing for fragile X syndrome in school for severely emotionally handicapped children in Korea

  • Hong, Sung-Do David;Lee, So-Young;Oh, Myung-Ryurl;Jin, Dong-Kyu
    • Journal of Genetic Medicine
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    • v.2 no.2
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    • pp.83-86
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    • 1998
  • Though Fragile X syndrome is one of the most common inherited causes of mental retardation, it is not much detected yet in Korean population. One of the reason may be that the syndrome is not well known to the special education teachers as well as to the clinicians in this country. Thus, molecular test was undertaken to screen out fragile X syndrome in 122 children of two Korean schools for emotionally severely handicapped children. The subjects were all boys, previously known as having pervasive developmental disorder with or without mental retardation. Southern blot analysis of peripheral blood showed the abnormally enlarged (CGG)n repeat sequence associated with fragile X syndrome in two children. This finding suggests that the DNA testing for fragile X syndrome is warranted for Korean high risk population and that more concern about this syndrome is needed for the professionals who work for mentally handicapped children. The issues involved in genetic counseling for fragile X syndrome are discussed.

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Biomonitoring the Genotoxicity of Environmental Pollutants Using the Tradescantia Bioassay (환경 중 유전독성물질 검색을 위한 자주달개비 생물검정 기법의 적용연구)

  • 신해식
    • Proceedings of the Korea Society of Environmental Toocicology Conference
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    • 2004.05a
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    • pp.47-60
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    • 2004
  • Higher plants can be valuable genetic assay systems for monitoring environmental pollutants and evaluating their biological toxicity. Two assays are considered ideal for in situ monitoring and testing of soil, airborne and aqueous mutagenic agents; the Tradescantia stamen hair assay for somatic cell mutations and the Tradescantia micronucleus assay for chromosome aberrations. Both assays can be used for in vivo and in vitro testing of mutagens. Since higher plant systems are now recognized as excellent indicators and have unique advantages over in situ monitoring and screening, higher plant systems could be accepted by regulatory authorities as an alternative first-tier assay system for the detection of possible genetic damages resulting from the pollutants or chemicals used and produced by industrial sectors. It has been concluded that potential mutagen and carcinogen such as the heavy metals among indoor air particulates, volatile compounds in the working places, soil, and water pollutants contribute to the overall health risk. This contribution can be considerable under certain circumstances. It is therefore important to identify the level of genotoxic activity in the environment and to relate it to the biomarkers of a health risk in humans. The results from the higher plant bioassays could make a significant contribution to assessing the risks of pollutants and protecting the public from agents that can cause mutation and/or cancer. The plant bioassays, which are relatively inexpensive and easy to handle, are recommended for the scientists who are interested in monitoring pollutants and evaluating their environmental toxicity to living organisms.

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Assessment of Environmental Pollution with Tradescantia Bioassays (자주달개비 생물검정 기법을 이용한 환경오염 평가)

  • Kim Jin Gyu;Sin Hae Sik
    • Proceedings of the Korea Society of Environmental Biology Conference
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    • 2004.05a
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    • pp.1-15
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    • 2004
  • Higher plants can be valuable genetic assay systems for monitoring environmental pollutants and evaluating their biological toxicity. Two assays are considered ideal for in situ monitoring and testing of soil, airborne and aqueous mutagenic agents; the Tradescantia stamen hair assay for somatic cell mutations and the Tradescantia micronucleus assay for chromosome aberrations. Both assays can be used for in vivo and in vitro testing of mutagens. Since higher plant systems are now recognized as excellent indicators and have unique advantages over in situ monitoring and screening, higher plant systems could be accepted by regulatory authorities as an alternative first-tier assay system for the detection of possible genetic damages resulting from the pollutants or chemicals used and produced by industrial sectors. It has been concluded that potential mutagen and carcinogen such as the heavy metals among indoor air particulates, volatile compounds in the working places, soil, and water pollutants contribute to the overall health risk. This contribution can be considerable under certain circumstances. It is therefore important to identify the level of genotoxic activity in the environment and to relate it to the biomarkers of a health risk in humans. The results from the higher plant bioassays could make a significant contribution to assessing the risks of pollutants and protecting the public firom agents that can cause mutation anuor cancer. The plant bioassays, which are relatively inexpensive and easy to handle, are recommended for the scientists who are interested in monitoring pollutants and evaluating their environmental toxicity to living organisms.

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Estimation of Genetic Parameters of Some Productive and Reproductive Traits in Italian Buffalo. Genetic Evaluation with BLUP-Animal Model

  • Catillo, G.;Moioli, B.;Napolitano, F.
    • Asian-Australasian Journal of Animal Sciences
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    • v.14 no.6
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    • pp.747-753
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    • 2001
  • In this study, the Italian milk recorded buffalo population from 1974 to 1996 was analysed with the purpose to estimate genetic and environmental variability and provide genetic parameters for the most important economic traits. High variability between herds was evident due to the poor knowledge of feeding requirements and husbandry technology in this species compared to cattle. Age at first calving was reduced by 57 days during the considered years following efforts made in better feeding and management from 1990; on the contrary, calving interval has increased by 17 days as a consequence of forcing buffaloes to calve in spring, in order to have the peak milk yield when milk is much better paid. Average milk yield increased by 1853 kg during these years, while lactation duration was reduced by 30 days. Season of calving has no effect on all traits. Calving order has a positive effect on milk yield especially because older cows produce more milk in shorter lactations. Heritability for the age at first calving and calving interval was 0.26 and 0.05 respectively. Heritability of productive traits, milk yield and duration of the lactation was 0.19 and 0.13 respectively, with repeatabilities of 0.40 and 0.26. Genetic trend for milk yield was 2.1 kg milk/year for the bulls and 1 kg for all population. The high genetic variability of milk production as well as duration of the lactation, indicates that there are good opportunities for genetic improvement when including these traits in a selection scheme. The low genetic trend registered over 15 years of recording activity can be explained by the fact that neither progeny testing was performed or selection schemes were implemented, due to the difficulties to use artificial insemination in buffalo.

Estimation of genetic parameters and trends for production traits of dairy cattle in Thailand using a multiple-trait multiple-lactation test day model

  • Buaban, Sayan;Puangdee, Somsook;Duangjinda, Monchai;Boonkum, Wuttigrai
    • Asian-Australasian Journal of Animal Sciences
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    • v.33 no.9
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    • pp.1387-1399
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    • 2020
  • Objective: The objective of this study was to estimate the genetic parameters and trends for milk, fat, and protein yields in the first three lactations of Thai dairy cattle using a 3-trait,-3-lactation random regression test-day model. Methods: Data included 168,996, 63,388, and 27,145 test-day records from the first, second, and third lactations, respectively. Records were from 19,068 cows calving from 1993 to 2013 in 124 herds. (Co) variance components were estimated by Bayesian methods. Gibbs sampling was used to obtain posterior distributions. The model included herd-year-month of testing, breed group-season of calving-month in tested milk group, linear and quadratic age at calving as fixed effects, and random regression coefficients for additive genetic and permanent environmental effects, which were defined as modified constant, linear, quadratic, cubic and quartic Legendre coefficients. Results: Average daily heritabilities ranged from 0.36 to 0.48 for milk, 0.33 to 0.44 for fat and 0.37 to 0.48 for protein yields; they were higher in the third lactation for all traits. Heritabilities of test-day milk and protein yields for selected days in milk were higher in the middle than at the beginning or end of lactation, whereas those for test-day fat yields were high at the beginning and end of lactation. Genetics correlations (305-d yield) among production yields within lactations (0.44 to 0.69) were higher than those across lactations (0.36 to 0.68). The largest genetic correlation was observed between the first and second lactation. The genetic trends of 305-d milk, fat and protein yields were 230 to 250, 25 to 29, and 30 to 35 kg per year, respectively. Conclusion: A random regression model seems to be a flexible and reliable procedure for the genetic evaluation of production yields. It can be used to perform breeding value estimation for national genetic evaluation in the Thai dairy cattle population.

A Color-Reaction-Based Biochip Detection Assay for RIF and INH Resistance of Clinical Mycobacterial Specimens

  • Xue, Wenfei;Peng, Jingfu;Yu, Xiaoli;Zhang, Shulin;Zhou, Boping;Jiang, Danqing;Chen, Jianbo;Ding, Bingbing;Zhu, Bin;Li, Yao
    • Journal of Microbiology and Biotechnology
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    • v.26 no.1
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    • pp.180-189
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    • 2016
  • The widespread occurrence of drug-resistant Mycobacterium tuberculosis places importance on the detection of TB (tuberculosis) drug susceptibility. Conventional drug susceptibility testing (DST) is a lengthy process. We developed a rapid enzymatic color-reaction-based biochip assay. The process included asymmetric multiplex PCR/templex PCR, biochip hybridization, and an enzymatic color reaction, with specific software for data operating. Templex PCR (tem-PCR) was applied to avoid interference between different primers in conventional multiplex-PCR. We applied this assay to 276 clinical specimens (including 27 sputum, 4 alveolar lavage fluid, 2 pleural effusion, and 243 culture isolate specimens; 40 of the 276 were non-tuberculosis mycobacteria specimens and 236 were M. tuberculosis specimens). The testing process took 4.5 h. A sensitivity of 50 copies per PCR was achieved, while the sensitivity was 500 copies per PCR when tem-PCR was used. Allele sequences could be detected in mixed samples at a proportion of 10%. Detection results showed a concordance rate of 97.46% (230/236) in rifampicin resistance detection (sensitivity 95.40%, specificity 98.66%) and 96.19% (227/236) in isoniazid (sensitivity 93.59%, specificity 97.47%) detection with those of DST assay. Concordance rates of testing results for sputum, alveolar lavage fluid, and pleural effusion specimens were 100%. The assay provides a potential choice for TB diagnosis and treatment.

Analysis of Genetic Relationship of Apple Varieties using Microsatellite Markers (Microsatellite 마커를 이용한 사과 품종 간 유전적 유연관계 분석)

  • Hong, Jee-Hwa;Kwon, Yong-Sham;Choi, Keun-Jin
    • Journal of Life Science
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    • v.23 no.6
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    • pp.721-727
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    • 2013
  • The objective of this study was to evaluate the suitability of microsatellite markers for variety identification in 42 apple varieties. For microsatellite analysis, 305 primer pairs were screened in 8 varieties and twenty six primer pairs showed polymorphism with clear band pattern and repetitive reproducibility. A total of 165 polymorphic amplified fragments were obtained in 42 varieties using 26 markers. Two to twelve alleles were detected for each locus with an average of 6.4 alleles per locus. A value of polymorphism information content (PIC) ranged from 0.461 to 0.849 with an average of 0.665. A total of 165 marker loci were used to calculate Jaccard's distance coefficients using unweighted pair-group method with arithmetical average (UPGMA) cluster analysis. Genetic distance of cluster ranged from 0.27 to 1.00. Analysis of genetic relationship revealed that these 26 microsatellite marker sets discriminated a total of 41 varieties except for 1 variety among 42 varieties. These markers will be utilized as molecular data in variety identification of apple.

Use of Microsatellite Markers to Identify Commercial Melon Cultivars and for Hybrid Seed Purity Testing (Microsatellite Marker를 이용한 멜론 시판품종의 품종식별과 F1 순도검정)

  • Kwon, Yong-Sham;Hong, Jee-Hwa
    • Horticultural Science & Technology
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    • v.32 no.4
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    • pp.525-534
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    • 2014
  • Microsatellite markers were used to identify 58 major commercial melon cultivars, and to assess hybrid seed purity of a melon breeding line known as '10H08'. A set of 412 microsatellite primer pairs were utilized for fingerprinting of the melon cultivars. Twenty-nine markers showed hyper-variability and could discriminate all cultivars on the basis of marker genotypes, representing the genetic variation within varietal groups. Cluster analysis based on Jaccard's distance coefficients using the UPGMA algorithm categorized 2 major groups, which were in accordance to morphological traits. The DNA bulks of female and male parents of breeding line '10H08' were tested with 29 primer pairs based on microsatellites to investigate purity testing of $F_1$ hybrid seeds, and 5 primer pairs exhibited polymorphism. One microsatellite primer pair (CMGAN12) produced unambiguous polymorphic bands among the parents. Among 192 seeds tested with CMGAN12, progeny possibly generated by self-pollination of the female parent were clearly distinguished from the hybrid progeny. These markers will be useful for fingerprinting melon cultivars and can help private seed companies to improve melon seed purity.

Clinical Experiences of Molecular Genetic Evaluation of Achondroplasia in Prenatal and Neonatal Cases

  • Kwak, Dong Wook;Kim, Hyun Jin;Park, So Yeon;Ahn, Hyun Suk;Chae, Yong Hwa;Kim, Moon Young;Lee, Young Ho;Ryu, Hyun Mee
    • Journal of Genetic Medicine
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    • v.10 no.1
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    • pp.38-42
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    • 2013
  • Purpose: The purpose of this study was to assess the characteristics of achondroplasia (ACH) diagnosed in fetuses or neonates and to evaluate the usefulness of a molecular genetic testing to confirm ACH. Materials and Methods: The medical and ultrasonographic records of 16 pregnant women, who had molecular genetic testing for ACH performed on their fetus or neonate at the Cheil General Hospital between February 1999 and April 2013, were retrospectively analyzed. Detection of G1138A and G1138C mutations of the fibroblast growth factor receptor 3 (FGFR3) gene was accomplished by polymerase chain reaction - restriction fragment length polymorphism analysis. Results: Of the eight fetuses and two neonates who were suspected of having ACH during pregnancy, four fetuses and one neonate was confirmed to have ACH and they all carried the heterozygous G1138A mutation. Out of 6 cases which had a history of ACH in prior pregnancies, three had genetic information for the previous fetuses while the other three did not. All six fetuses had no mutations at G380R. However, the one fetus of pregnant woman with non-confirmed ACH showed shortened long bone on ultrasound thereafter and the fetus was identified as having oto-spondylo-megaepiphyseal dysplasia after birth. Conclusion: Korean patients with achondroplasia have the heterozygous G1138A mutation that is most commonly defined in other countries. Molecular genetic evaluations of ACH are helpful not only for establishing diagnosis but for appropriate counseling with subsequent pregnancies.