• Title/Summary/Keyword: Genetic test

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Second-trimester fetal genetic ultrasonography to detect chromosomal abnormalities

  • Hong, Seong-Yeon
    • Journal of Genetic Medicine
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    • v.11 no.2
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    • pp.49-55
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    • 2014
  • Genetic ultrasonography refers to the evaluation of risk of chromosomal abnormalities via various soft sonographic markers. Although the maternal serum test is the primary screening method for chromosomal abnormalities, genetic ultrasonography is also widely used and can help increase detection rates. To date, many soft markers, including choroid plexus cysts, echogenic intracardiac foci, mild ventriculomegaly, nuchal fold thickening, echogenic bowel, mild pyelectasis, short femur and humerus length, and absent or hypoplastic nasal bone, have been reported. An aberrant right subclavian artery was the most novel soft marker introduced. Because these soft markers involve diverse relative risks of chromosomal abnormalities, it is difficult to apply them to clinical practice. To optimize the efficacy of genetic ultrasonography, it is important to understand the precise relative risks of chromosomal abnormalities innumerous soft markers and integrate these risks with each other and the results of maternal serum screening.

Identification of DNA polymorphisms in the field bean ( Glycine soza S. and Z. ) using RAPD markers (RAPD 표지인자를 이용한 돌콩 DNA 다형현상 분석)

  • 이성규
    • Journal of The Korean Society of Grassland and Forage Science
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    • v.18 no.2
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    • pp.143-150
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    • 1998
  • Six field bean (GI-vcine soza S and Z ) plants were examined for their genetic polymorphisms and intraspecific variations using randomly amplified polymorphic DNA(RAPD) markers. In RAPD analysis of 5 random primers (Rp-1, Rp2, Rp-3, Rp-4, Rp-5), 30 of total 155 bands obtained kom 5 primers were polymorphic and sizes of polymirphic band ranged between 0.5 and 3.0 kb. Number of bands amplyfied per primer was varied from 2 to 11 and average number was 6.0. Genetic variation of intraspecies in the samples of six region was ranged behveen 11 to 25 percent, and genetic similarity among intraspecies was ranged from 0.69 to 0.78. In pairwise genetic similarity test of six field bean plants, Mun and Hoj showed highest coefficient of genetic similarity as 0.67, whereas Sin and Hoj was lowest as 0.45. According to the genetic similarity, the level of intraspecific variation is higher than that of regional distance in GI-vcine soza.

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Studies on the Genetic Toxicity of NP-77A

  • Kim, Jai-Hyun;Cho, In-Koo;Park, Kun-Hyuck;Ha, Kwang-Won
    • Proceedings of the Korean Society of Applied Pharmacology
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    • 1995.04a
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    • pp.123-123
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    • 1995
  • To evaluate the genetic toxicity of NP-77A which is selected as the candidate of anti-HBV agent, we performed ames test, micronucleus test, and chromosome aberration test on the CHL cell in vitro. The Ames test was carried out with 5 fold diluted 5 concentrations from 25mg/plate using S. typhimurium and E.coli. After 48hrs incubation, revertant colony numbers was calculated with and without metabolic activation system. In vivo micronucleus test, we investigated the rate of the occurrence of micronucleus after I.P. administration to mice. Andalso, we observed the incidence rate of cells with chromosomal aberration by NP-77A treatment using CHL cell line.

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Genetic Parameter Estimation on the Growth and Carcass Traits in Hanwoo(Korean Cattle) (한우의 성장 및 도체형질에 대한 유전모수 추정)

  • ;;Salces, Agapita J
    • Journal of Animal Science and Technology
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    • v.48 no.6
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    • pp.759-766
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    • 2006
  • This study was conducted to investigate the genetic correlations among the traits used to select young bulls and proven bulls in Hanwoo Performance and Progeny Test Program in Korea. For the estimation of heritabilities and correlations among the growth traits of bulls and carcass traits of progeny steers, 2,532 records of performance tested bull calves and 1,819 records of progeny tested steers were collected from Livestock Improvement Main Center (LIMC), National Agricultural Cooperative Federation (NACF). Fixed effects of mixed model for each traits were selected by using stepwise regression analysis and prior values of variance components were estimated by MTDFREML. The prior values of variance components were estimated with pairwise 2 traits model followed by single trait analysis. The estimated heritability of backfat thickness(BF), dressing percentage(DP), loin-eye muscle area(LMA), marbling score(MS) and weight at 12 months(WT12) was 0.51, 0.32, 0.27, 0.33, 0.50 and 0.26, respectively. Genetic correlation of WT12 of bull calves with backfat thickness, carcass weight and loin-eye muscle area of steers was positive correlation as 0.05, 0.35 and 0.21, respectively. However genetic correlation of WT12 with DP and MS showed negative correlation as 󰠏0.09 and 󰠏0.27, respectively and these negative genetic correlations implies that bulls that may be superior in carcass traits can be lost at the first step of selection and current selection method should be modified to solve this problem.

Analysis of Questions and Answers Posted on the Internet Blogs about Prenatal Genetic Diagnosis and Screening (블로그를 통해 본 산전 기형아 검사와 양수검사에 대한 질문과 댓글 분석)

  • Jun, Myunghee;Shin, Gyeyoung;Choi, Kyung Sook
    • The Journal of the Korea Contents Association
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    • v.15 no.3
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    • pp.252-264
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    • 2015
  • The purpose of this study was to identify pregnant women's needs for information on prenatal genetic diagnosis and screening. This study is consisted of two phases. In the first phase in December 2011, six blogs featuring questions and answers on prenatal genetic diagnosis and screening were selected from four major search engines in Korea by using the keywords "prenatal genetic diagnosis," "prenatal genetic screening", and "amniocentesis." An analyzing framework was constructed on the basis of 389 posts on six blogs between November 2006 and October 2011. In the second phase, the contents of the "MomsHolicbaby" blog posted from November 2010 to October 2011 were reviewed. Then, pregnant women's questions on prenatal genetic diagnosis and screening (100 questions) and amniocentesis (200 questions with 1,665 answers) were analyzed using descriptive statistics. Among posters who had ever been recommended to undergo amniocentesis, 56.5% described feelings of anxiety, 25.5% did not know the purpose of the test, and 33.9% refused to undergo the test. Among 295 posters answering questions about amniocentesis, 61.4% disagreed with undergoing the test. The results show that there is a need for healthcare professionals to provide more educational and emotional support to pregnant women considering prenatal genetic diagnosis and screening. Providing online health information can be integrated into prenatal genetic education for pregnant women as well as nurses. In addition, prenatal women's preferences about undergoing amniocentesis should be reflected in the current legal discussion on criteria for termination of pregnancy.

The Genetic Development of Sire, Dam and Progenies and Genotype ${\times}$ Environment Interaction in a Beef Breeding System

  • Bhuiyan, A.K.F.H.;Dietl, G.;Klautschek, G.
    • Asian-Australasian Journal of Animal Sciences
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    • v.17 no.1
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    • pp.13-17
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    • 2004
  • The aim of this study was to investigate genetic development and genotype${\times}$environment interactions (GEI) in postweaning body weight of fattening bulls at the end of test period (WT-T) under various beef fattening environments. Data on a total of 24,247 fattening bulls obtained from the industrial farm, breeding farms and testing stations were used. Heritability estimates for WT-T in all environments were nearly similar. Significant genetic developments of sire, dam and progenies for WT-T were observed in all environments. However, many differences in annual genetic developments between the environments were significant. The genetic correlations for WT-T between industrial farm and breeding farms, industrial farm and testing stations and breeding farms and testing stations were respectively 0.004, 0.004 and 0.013. These low estimates of genetic correlations and significant differences in genetic developments among environments clearly show the existence of GEI for WT-T among various fattening environments. Results of this study indicate the need for environment-specific genetic evaluation and selection of beef bulls for commercial beef production.

Comparison of Genetic Association Analyses Using Sib Information in Family-Based Study (가족기반연구에서 형매정보를 이용한 유전적 연관성 분석방법의비교)

  • Jung, Ji-Won;Lee, Suk-Hoon;Kim, Soon-Ae;Park, Mi-Ra
    • Communications for Statistical Applications and Methods
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    • v.17 no.5
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    • pp.733-743
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    • 2010
  • Recently, disease-genetic association analyses using single nucleotide polymorphisms(SNPs) and haplotypes in family-based genetic study have come into the spotlight. In binary trait, the classic transmission disequilibrium test(TDT) can only be applied if genetic information of parents and their offspring is available. However, in case of diseases having a late age of onset such as dementia, the TDT cannot be applied due to the fact that parental genotype data are unavailable. For this reason, alternate methods using genetic sib information instead of parental genotype data are proposed. In this study, methods using genetic sib information are reviewed and power of analysis tests is also compared throughout simulation experiment.

Discriminant Factors Influencing Utilization of Genetic Resources (유전자은행의 운영성과 제고를 위한 유전자원이용촉진 판별요인의 탐색)

  • Sung, Bong-Suk;Cho, Won-Guon
    • Management & Information Systems Review
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    • v.35 no.3
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    • pp.95-113
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    • 2016
  • The study examines the question of what discriminant factors may affect differences between two groups classified by researchers' satisfaction with and continuous use intention of genetic resources(microorganisms). Survey data from researchers who are using microorganisms from a gene bank was used to empirically test. The survey, covering 150 researchers, was conducted from March 26 through April 17 2015. Linear discriminant analysis was used to test the research questions described in the study. Results from the tests show that utilization value and suitability of genetic resources for researchers' R&D activities play key roles in discriminating between the two groups classified by researchers' satisfaction with and continuous use intention of genetic resources, relatively lower and higher groups. The results indicate that useful trait information of and degree in promotion of researches by genetic resources appear to be weak in discriminating between the two groups, and that novelty of genetic resources does not play a crucial role in making a distinction between the two groups. We propose some policy implications based on the results of the study.

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An Application of Quantum-inspired Genetic Algorithm for Weapon Target Assignment Problem (양자화 유전자알고리즘을 이용한 무기할당)

  • Kim, Jung Hun;Kim, Kyeongtaek;Choi, Bong-Wan;Suh, Jae Joon
    • Journal of Korean Society of Industrial and Systems Engineering
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    • v.40 no.4
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    • pp.260-267
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    • 2017
  • Quantum-inspired Genetic Algorithm (QGA) is a probabilistic search optimization method combined quantum computation and genetic algorithm. In QGA, the chromosomes are encoded by qubits and are updated by quantum rotation gates, which can achieve a genetic search. Asset-based weapon target assignment (WTA) problem can be described as an optimization problem in which the defenders assign the weapons to hostile targets in order to maximize the value of a group of surviving assets threatened by the targets. It has already been proven that the WTA problem is NP-complete. In this study, we propose a QGA and a hybrid-QGA to solve an asset-based WTA problem. In the proposed QGA, a set of probabilistic superposition of qubits are coded and collapsed into a target number. Q-gate updating strategy is also used for search guidance. The hybrid-QGA is generated by incorporating both the random search capability of QGA and the evolution capability of genetic algorithm (GA). To observe the performance of each algorithm, we construct three synthetic WTA problems and check how each algorithm works on them. Simulation results show that all of the algorithm have good quality of solutions. Since the difference among mean resulting value is within 2%, we run the nonparametric pairwise Wilcoxon rank sum test for testing the equality of the means among the results. The Wilcoxon test reveals that GA has better quality than the others. In contrast, the simulation results indicate that hybrid-QGA and QGA is much faster than GA for the production of the same number of generations.

Metabolic Syndrome Prediction Using Machine Learning Models with Genetic and Clinical Information from a Nonobese Healthy Population

  • Choe, Eun Kyung;Rhee, Hwanseok;Lee, Seungjae;Shin, Eunsoon;Oh, Seung-Won;Lee, Jong-Eun;Choi, Seung Ho
    • Genomics & Informatics
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    • v.16 no.4
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    • pp.31.1-31.7
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    • 2018
  • The prevalence of metabolic syndrome (MS) in the nonobese population is not low. However, the identification and risk mitigation of MS are not easy in this population. We aimed to develop an MS prediction model using genetic and clinical factors of nonobese Koreans through machine learning methods. A prediction model for MS was designed for a nonobese population using clinical and genetic polymorphism information with five machine learning algorithms, including naïve Bayes classification (NB). The analysis was performed in two stages (training and test sets). Model A was designed with only clinical information (age, sex, body mass index, smoking status, alcohol consumption status, and exercise status), and for model B, genetic information (for 10 polymorphisms) was added to model A. Of the 7,502 nonobese participants, 647 (8.6%) had MS. In the test set analysis, for the maximum sensitivity criterion, NB showed the highest sensitivity: 0.38 for model A and 0.42 for model B. The specificity of NB was 0.79 for model A and 0.80 for model B. In a comparison of the performances of models A and B by NB, model B (area under the receiver operating characteristic curve [AUC] = 0.69, clinical and genetic information input) showed better performance than model A (AUC = 0.65, clinical information only input). We designed a prediction model for MS in a nonobese population using clinical and genetic information. With this model, we might convince nonobese MS individuals to undergo health checks and adopt behaviors associated with a preventive lifestyle.