• Journal of Science and Technology Studies
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• v.3 no.1 s.5
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• pp.41-73
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• 2003

Personal genetic information is information about a person's genetic characteristics, which may reveal important information about private matters such as susceptibility to disease. Progress in genetics makes it much easier to obtain personal genetic information, and this leads to concerns about confidentiality and security of genetic information, and about possible genetic discrimination. This paper examines social issues related to human genetic information in terms of individual identification, diagnosis of diseases, and non-medical genetic test, and then tries to provide desirable citizens participation methods that can be used when making public policies related to genetic information protection.

• Clinical and Experimental Pediatrics
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• v.53 no.3
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• pp.273-285
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• 2010

Completion of the human genome project has allowed a deeper understanding of molecular pathophysiology and has provided invaluable genomic information for the diagnosis of genetic disorders. Advent of new technologies has lead to an explosion in genetic testing. However, this overwhelming stream of genetic information often misleads physicians and patients into a misguided faith in the power of genetic testing. Moreover, genetic testing raises a number of ethical, legal, and social issues. Diagnostic genetic tests can be divided into three primary but overlapping categories: cytogenetic studies (including routine karyotyping, high-resolution karyotyping, and fluorescent in situ hybridization studies), biochemical tests, and DNA-based diagnostic tests. DNA-based testing has grown rapidly over the past decade and includes preandpostnatal testing for the diagnosis of genetic diseases, testing for carriers of genetic diseases, genetic testing for susceptibility to common non-genetic diseases, and screening for common genetic diseases in a particular population. Theoretically, once a gene's structure, function, and association with a disease are well established, the clinical application of genetic testing should be feasible. However, for routine applications in a clinical setting, such tests must satisfy a number of criteria. These criteria include an acceptable degree of clinical and analytical validity, support of a quality assurance program, possibility of modifying the course of the diagnosed disease with treatment, inclusion of pre-and postnatal genetic counseling, and determination of whether the proposed test satisfies cost-benefit criteria and should replace or complement traditional tests. In the near future, the application of genetic testing to common diseases is expected to expand and will likely be extended to include individual pharmacogenetic assessments.

• Asian-Australasian Journal of Animal Sciences
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• v.32 no.3
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• pp.334-340
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• 2019

Objective: The objective of this study was to investigate the genetic components of daily milk yield and to re-rank bulls in South Korea by estimated breeding value (EBV) under heat stress using the temperature-humidity index (THI). Methods: This study was conducted using 125,312 monthly test-day records, collected from January 2000 to February 2017 for 19,889 Holstein cows from 647 farms in South Korea. Milk production data were collected from two agencies, the Dairy Cattle Genetic Improvement Center and the Korea Animal Improvement Association, and meteorological data were obtained from 41 regional weather stations using the Automated Surface Observing System (ASOS) installed throughout South Korea. A random regression model using the THI was applied to estimate genetic parameters of heat tolerance based on the test-day records. The model included herd-year-season, calving age, and days-in-milk as fixed effects, as well as heat tolerance as an additive genetic effect, permanent environmental effect, and direct additive and permanent environmental effect. Results: Below the THI threshold (${\leq}72$; no heat stress), the variance in heat tolerance was zero. However, the heat tolerance variance began to increase as THI exceeded the threshold. The covariance between the genetic additive effect and the heat tolerance effect was -0.33. Heritability estimates of milk yield ranged from 0.111 to 0.176 (average: 0.128). Heritability decreased slightly as THI increased, and began to increase at a THI of 79. The predicted bull EBV ranking varied with THI. Conclusion: We conclude that genetic evaluation using the THI function could be useful for selecting bulls for heat tolerance in South Korea.

• The Korean Journal of Applied Statistics
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• v.23 no.5
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• pp.845-855
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• 2010

Extensively used case-control designs in medical studies can also be powerful and efficient for family association studies as long as an analysis method is developed for the evaluation of association between candidate genes and disease. Traditional Cochran-Armitage trend test is devised for independent subjects data, and to apply this trend test to the biologically related siblings one has to take into account the covariance among related family members in order to maintain the correct type I error rate. We propose a more powerful trend test by introducing weights that reflect the number of affected siblings in families for the evaluation of the association of genetic markers related to the disease. An application of our method to a sample family data, in addition to a small-scale simulation, is presented to compare the weighted and unweighted trend tests.

• Asian-Australasian Journal of Animal Sciences
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• v.26 no.4
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• pp.470-475
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• 2013

The objective of this study was to estimate genetic parameters that are to be used for across-herd genetic evaluations of seed stock pigs at GGP level. Performance data with pedigree information collected from swine breeder farms in Korea were provided by Korea Animal Improvement Association (AIAK). Performance data were composed of final body weights at test days and ultrasound measures of back fat thickness (BF), rib eye area (EMA) and retail cut percentage (RCP). Breeds of swine tested were Landrace, Yorkshire and Duroc. Days to 90 kg body weight (DAYS90) were estimated with linear function of age and ADG calculated from body weights at test days. Ultrasound measures were taken with A-mode ultrasound scanners by trained technicians. Number of performance records after censoring outliers and keeping records pigs only born from year 2000 were of 78,068 Duroc pigs, 101,821 Landrace pigs and 281,421 Yorkshire pigs. Models included contemporary groups defined by the same herd and the same seasons of births of the same year, which was regarded as fixed along with the effect of sex for all traits and body weight at test day as a linear covariate for ultrasound measures. REML estimation was processed with REMLF90 program. Heritability estimates were 0.40, 0.32, 0.21 0.39 for DAYS90, ADG, BF, EMA, RCP, respectively for Duroc population. Respective heritability estimates for Landrace population were 0.43, 0.41, 0.22, and 0.43 and for Yorkshire population were 0.36, 0.38, 0.22, and 0.42. Genetic correlation coefficients of DAYS90 with BF, EMA, or RCP were estimated to be 0.00 to 0.09, -0.15 to -0.25, 0.22 to 0.28, respectively for three breeds populations. Genetic correlation coefficients estimated between BF and EMA was -0.33 to -0.39. Genetic correlation coefficient estimated between BF and RCP was high and negative (-0.78 to -0.85) but the environmental correlation coefficients between these two traits was medium and negative (near -0.35), which describes a highly correlated genetic response to selection on one or the other of these traits. Genetic Trends of all three breeds tend to be towards bigger EMA or greater RCP and shorter DAYS90 especially from generations born after year 2000.

• Asian-Australasian Journal of Animal Sciences
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• v.31 no.5
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• pp.636-642
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• 2018

Objective: The objective of this study was to estimate genetic parameters of milk, fat, and protein yields within and across lactations in Tunisian Holsteins using a random regression test-day (TD) model. Methods: A random regression multiple trait multiple lactation TD model was used to estimate genetic parameters in the Tunisian dairy cattle population. Data were TD yields of milk, fat, and protein from the first three lactations. Random regressions were modeled with third-order Legendre polynomials for the additive genetic, and permanent environment effects. Heritabilities, and genetic correlations were estimated by Bayesian techniques using the Gibbs sampler. Results: All variance components tended to be high in the beginning and the end of lactations. Additive genetic variances for milk, fat, and protein yields were the lowest and were the least variable compared to permanent variances. Heritability values tended to increase with parity. Estimates of heritabilities for 305-d yield-traits were low to moderate, 0.14 to 0.2, 0.12 to 0.17, and 0.13 to 0.18 for milk, fat, and protein yields, respectively. Within-parity, genetic correlations among traits were up to 0.74. Genetic correlations among lactations for the yield traits were relatively high and ranged from $0.78{\pm}0.01$ to $0.82{\pm}0.03$, between the first and second parities, from $0.73{\pm}0.03$ to $0.8{\pm}0.04$ between the first and third parities, and from $0.82{\pm}0.02$ to $0.84{\pm}0.04$ between the second and third parities. Conclusion: These results are comparable to previously reported estimates on the same population, indicating that the adoption of a random regression TD model as the official genetic evaluation for production traits in Tunisia, as developed by most Interbull countries, is possible in the Tunisian Holsteins.

• Asian-Australasian Journal of Animal Sciences
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• v.31 no.6
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• pp.798-803
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• 2018

Objective: The objective of this study was to estimate the genetic parameters for milk ${\beta}$-hydroxybutyrate (BHBA), acetone (Ac), fat protein ratio (FPR), and energy balance (EB) using milk test day records and investigate the effect of early lactation FPR and EB on milk ketone body concentrations. Methods: Total 262,940 test-day records collected from Korea Animal Improvement Association during the period of 2012 to 2016 were used in this study. BHBA and Ac concentrations in milk were measured by Fourier transform infrared spectroscopy (FTIR). FPR values were obtained using test day records of fat and protein percentage. EB was calculated using previously developed equation based on parity, lactation week, and milk composition data. Genetic parameters were estimated by restricted maximum likelihood procedure based on repeatability model using Wombat program. Results: Elevated milk BHBA and Ac concentrations were observed during the early lactation under the negative energy balance. Milk FPR tends to decrease with the decreasing ketone body concentrations. Heritability estimates for milk BHBA, Ac, EB, and FPR ranged from 0.09 to 0.14, 0.23 to 0.31, 0.19 to 0.52, and 0.16 to 0.42 respectively at parity 1, 2, 3, and 4. The overall heritability for BHBA, Ac, EB and FPR were 0.29, 0.32, 0.58, and 0.38 respectively. A common pattern was observed in heritability of EB and FPR along with parities. Conclusion: FPR and EB can be suggested as potential predictors for risk of hyperketonemia. The heritability estimates of milk BHBA, Ac, EB, and FPR indicate that the selective breeding may contribute to maintaining the milk ketone bodies at optimum level during early lactation.

• 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.

• Asian-Australasian Journal of Animal Sciences
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• v.25 no.6
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• pp.764-771
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• 2012

Direct and maternal genetic heritabilities and their correlations with body weight at 5 stages in the life span of purebred Berkshire pigs, from birth to harvest, were estimated to scrutinize body weight development with the records for 5,088 purebred Berkshire pigs in a Korean farm, using the REML based on an animal model. Body weights were measured at birth (Birth), at weaning (Weaning: mean 22.9 d), at the beginning of a performance test (On: mean 72.7 d), at the end of a performance test (Off: mean 152.4 d), and at harvest (Finish: mean 174.3 d). Ordinary polynomials and Legendre with order 1, 2, and 3 were adopted to adjust body weight with age in the multivariate animal models. Legendre with order 3 fitted best concerning prediction error deviation (PED) and yielded the lowest AIC for multivariate analysis of longitudinal body weights. Direct genetic correlations between body weight at Birth and body weight at Weaning, On, Off, and Finish were 0.48, 0.36, 0.10, and 0.10, respectively. The estimated maternal genetic correlations of body weight at Finish with body weight at Birth, Weaning, On, and Off were 0.39, 0.49, 0.65, and 0.90, respectively. Direct genetic heritabilities progressively increased from birth to harvest and were 0.09, 0.11, 0.20, 0.31, and 0.43 for body weight at Birth, Weaning, On, Off, and Finish, respectively. Maternal genetic heritabilities generally decreased and were 0.26, 0.34, 0.15, 0.10, and 0.10 for body weight at Birth, Weaning, On, Off, and Finish, respectively. As pigs age, maternal genetic effects on growth are reduced and pigs begin to rely more on the expression of their own genes. Although maternal genetic effects on body weight may not be large, they are sustained through life.

• Asian-Australasian Journal of Animal Sciences
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• v.21 no.8
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• pp.1088-1096
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• 2008

Data from milk performance testing were used to analyze genetic and environmental trends for purebred Tsigai, Improved Valachian and Lacaune sheep. 103,715 (Tsigai), 212,962 (Improved Valachian) and 2,196 (Lacaune) test-day records gathered by the State Breeding Institute of the Slovak Republic entered the analyses. The respective pedigree data comprised 23,724 (Tsigai), 51,401 (Improved Valachian) and 438 (Lacaune) records. The multiple-trait, mixed model methodology was used to predict the breeding values for daily milk yield, fat and protein content and to estimate the fixed and remaining random effects assumed to affect the above mentioned traits, separately for each breed. The breeding values for daily milk yield were adjusted for 150-day standardized lactation length by multiplying with the constant 150, as the breeding goal of the selection scheme in Slovakian sheep is to increase 150-day milk production and constant heritability throughout the whole lactation is assumed. The genetic trends were expressed as changes in averages of breeding values across birth years of animals. For Tsigai and Lacaune breeds, cumulative genetic changes over the analyzed period were 3.8 and 5.1 kg for 150-day milk, 0 and -0.16% for fat content and 0 and -0.12% for protein content. For Improved Valachian breed, either a low (1.6 kg for 150-day milk yield) or zero (fat and protein content) cumulative genetic change was found. The environmental trends were calculated as averages of solutions for flock-test day effect across years and months in which measurements were taken. A distinctive cyclical pattern which reflected short-time variation in milk production traits was found. Possible explanations for this phenomenon are given and discussed.