• 제목/요약/키워드: Genetic association test

검색결과 255건 처리시간 0.021초

인간 유전정보 보호와 시민참여 (Protection of Human Genetic Information and Citizens Participation)

  • 이영희;김명진;김병수
    • 과학기술학연구
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    • 제3권1호
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    • pp.41-73
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    • 2003
  • 최근 생명공학의 발전에 따라 배아복제나 유전자 정보은행 등과 관련된 주제를 둘러싸고 많은 논란이 야기되고 있는 상황이다. 특히 인간게놈프로젝트의 진전에 힘입어 범죄수사를 위한 개인식별이나 질병 진단 및 검사뿐만 아니라 각종 비의료적 검사에 이르기까지 유전자 검사가 현재 무분별하게 확산되는 추세이다. 문제는, 개인의 유전정보는 사회적으로 매우 민감한 성격을 지님에도 불구하고 이러한 유전자 검사의 확산은 필연적으로 유전자 프라이버시의 침해를 가져올 가능성을 높여준다는 데 있다. 이처럼 유전정보 보호에 대한 사회적 관심이 제고되고 있는 상황에서, 유전정보 보호를 둘러싼 사회적 논의과정에 일반 시민들이 직접 참여할 수 있는 제도적 틀을 만들어 제공하는 것이 그 어느 때보다 절실하게 요구되고 있다. 이러한 문제의식에 입각하여, 이 글에서는 먼저 인간 유전정보의 이용을 둘러싼 사회적 쟁점을 개인식별, 질병 진단 및 검사, 그리고 비의료적 검사의 세 측면에서 살펴보고, 이어 생명공학 분야에서 국내 외에서 시행되었던 다양한 시민참여의 경험들에 대한 검토를 거친 다음에, 향후 우리나라 정부가 유전정보 보호정책의 입안과 관련하여 취해야 할 바람직한 시민참여 방안을 모색해 본다.

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Genetic testing in clinical pediatric practice

  • Yoo, Han Wook
    • Clinical and Experimental Pediatrics
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    • 제53권3호
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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.

Estimation of the genetic milk yield parameters of Holstein cattle under heat stress in South Korea

  • Lee, SeokHyun;Do, ChangHee;Choy, YunHo;Dang, ChangGwon;Mahboob, Alam;Cho, Kwanghyun
    • Asian-Australasian Journal of Animal Sciences
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    • 제32권3호
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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.

형제 자료에 근거한 유전연관성 추세 검정법의 비교 (Comparison of Trend Tests for Genetic Association with Sibship Data)

  • 오영신;김한상;송혜향
    • 응용통계연구
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    • 제23권5호
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    • pp.845-855
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    • 2010
  • 의학의 여러 분야의 연관성 연구에서 효율성이 높은 방법으로 채택되고 있는 질병-대조 연구계획을 다수 형제 자료에 근거한 유전연관성 연구에 적용하기 위해서는 가족 자료에 근거한 추세 검정통계량이 요구된다. 독립된 개체에 적용하는 Cochran-Armitage 추세 검정통계량은 가족 자료의 경우 제 1종 오류가 보장되지 않으며, 동일 가족의 다수 형제 자료로 인한 공분산을 감안한 추세 검정통계량이 제시되어야 한다. 본 논문에서는 특히 동일 가족의 질병형제수에 따른 가중을 도입하여 질병과 관련된 마커좌위에서의 유전자형 자료가 수집되는 경우에 검정력이 더욱 높게 되는 검정통계량을 제안한다. 예제 가족 자료로 가중을 고려한 경우와 고려하지 않은 경우의 검정통계량을 계산하여 비교한다.

Genetic Parameter Estimation in Seedstock Swine Population for Growth Performances

  • Choi, Jae Gwan;Cho, Chung Il;Choi, Im Soo;Lee, Seung Soo;Choi, Tae Jeong;Cho, Kwang Hyun;Park, Byoung Ho;Choy, Yun Ho
    • Asian-Australasian Journal of Animal Sciences
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    • 제26권4호
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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.

Genetic analysis of milk production traits of Tunisian Holsteins using random regression test-day model with Legendre polynomials

  • Zaabza, Hafedh Ben;Gara, Abderrahmen Ben;Rekik, Boulbaba
    • Asian-Australasian Journal of Animal Sciences
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    • 제31권5호
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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.

Genetic parameter estimation for milk β-hydroxybutyrate and acetone in early lactation and its association with fat to protein ratio and energy balance in Korean Holstein cattle

  • Ranaraja, Umanthi;Cho, KwangHyun;Park, MiNa;Kim, SiDong;Lee, SeokHyun;Do, ChangHee
    • Asian-Australasian Journal of Animal Sciences
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    • 제31권6호
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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.

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

  • 전명희;신계영;최경숙
    • 한국콘텐츠학회논문지
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    • 제15권3호
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    • pp.252-264
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    • 2015
  • 본 연구의 목적은 블로그에 나타난 임신 여성의 산전 기형아 검사 및 양수검사 관련 교육요구를 파악하기 위하여 총 7개의 국내 인터넷 블로그를 분석하였다. 본 연구는 두 단계로 이루어졌다. 1 단계는 2011년 10월 31일까지 6년간 7개 블로그 중 6개 블로그에 게시된 내용 중 산전 기형아 검사 389건을 통하여 연구의 분석틀을 마련하였다. 2 단계에서는 '맘스홀릭 베이비'에 게시된 산전 기형아 검사에 관한 질문 100건, 양수 검사에 관한 질문 200건과 댓글 1,665건을 2011년 12월 텍스트화하고 산전 기형아 검사와 양수검사의 건수, 검사 이유 및 검사와 관련된 문제점을 분석하였다. 그 결과, 임신부들은 산전 기형아 검사와 양수검사와 관련하여 검사의 용어, 목적 및 임신 주수에 따른 검사 지식이 부족하였고, 양수 검사를 권유 받은 임신부 중 56.5%가 불안과 두려움을 호소하였다. 양수검사에 관한 찬성과 반대 건수를 분석한 결과, 찬성 보다는 반대 건수가 더 많았고, 양수검사를 권유 받은 자 중 33.9%는 양수검사를 받지 않았다. 이상의 결과에서 보듯이 의료 기관 서비스 안에서 임신 여성과 가족들에게 임신 주수에 따른 산전 기형아 검사에 관한 교육 및 지지가 강화될 필요가 있다. 이를 위하여 산전 클리닉 외래의 상담 및 교육 서비스 기능을 강화하고, 유전 상담 전문가를 추가로 배치할 필요가 있으며 인터넷 보급률 증가와 현대 임신 여성이 선호하는 커뮤니케이션 방식을 고려하여 온라인 건강 정보 사이트 운영 및 콘텐츠 개발에 관심을 기울일 필요가 있다. 또한 본 연구결과는 기형아 검사 후 낙태 허용범위 기준에 대한 논의 시 기초자료로 활용될 수 있을 것이다.

Estimation of Genetic Parameters from Longitudinal Records of Body Weight of Berkshire Pigs

  • Lee, Dong-Hee;Do, Chang-Hee
    • Asian-Australasian Journal of Animal Sciences
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    • 제25권6호
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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.

Genetic and Environmental Trends for Milk Production Traits in Sheep Estimated with Test-day Model

  • Oravcova, Marta;Pesovicva, Dana
    • Asian-Australasian Journal of Animal Sciences
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    • 제21권8호
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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.