• Title/Summary/Keyword: phenotype test

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Development of Sumulation Model for Breeding Schemes of Hanwoo(Korean Cattle) (한우의 개량 체계 모의실험을 위한 모형 개발)

  • Ju, J.C.;Kim, N.S.
    • Journal of Animal Science and Technology
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    • v.44 no.5
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    • pp.507-518
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    • 2002
  • A multiple-trait stochastic computer simulation model was constructed to predict the breeding schemes and selection methods on Hanwoo(Korean cattle). The model could be used four kinds of selection criteria (random, phenotype and true or estimated breeding values). At the test run in various population size for 20 years, all estimated parameters of the each simulated populations were resulted similar to input parameters. The deviations between input and output values of parameter in the large population were smaller than in the small population. The simulated results obtained from ten small populations consisted with one sire and ten dams in each population for 500 years were as follows; Inbreeding coefficients of population were similar to theoretical estimating function. Mean values of each traits selected were randomly drifted by generation, but they were converged into a value when inbreeding coefficients came close to one. Additive genetic variances within each population were reduced by generation, and they were converged into zero when inbreeding coefficients came close to one. These results indicated that the simulated populations hold to statistical properties of input parameters.

Genetic Status of ESR Locus and Other Unidentified Genes As sociated with Litter Size in Chinese Indigenous Tongcheng Pig Breed after a Long Time Selection

  • Zhu, M.J.;Yu, M.;Liu, B.;Zhu, Z.Z.;Xiong, T.A.;Fan, B.;Xu, S.P.;Du, Y.Q.;Peng, Z.Z.;Li, K.
    • Asian-Australasian Journal of Animal Sciences
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    • v.17 no.5
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    • pp.598-602
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    • 2004
  • The Tongcheng pig breed is a famous Chinese indigenous breed. The Ministry of Agriculture of China has filed it as 1 of 19 national key conservation breeds selected from more than 100 Chinese indigenous pig breeds in 2000. In order to improve the reproductive performance, it has been intensively selected to increase the litter size for about 10 years. The population randomly sampled from conservation nucleus of eight families in the Tongcheng pigs was genotyped for identification of their estrogen receptor locus polymorphisms with the PCR-RFLPs method. Only AB heterozygotes and BB homozygotes were detected, and $X^2$ test demonstrated that the locus was in disequilibrium at a significant level (p<0.05). In the present paper, the litter sizes in different parities were regarded as different traits. Holistic status of other unspecific and unidentified genes was estimated by using the statistical methods. Coefficients of kurtosis and skewness showed that the litter size still presented segregating characteristic in the 2nd, 5th, 7th, 8th and 9th parities. Analysis of homogeneity of variance between families confirmed the results for the 5th, 7th and 8th parities. The heritability of litter size for the 1st to 10th parities was estimated with paternal half-sib model and individual estimated breeding values (EBVs) were evaluated by a single trait animal model as well. We found that the averages of EBVs for litter size in each parity did not differ significantly between genotypes, despite the significant difference for original phenotype records in the 3rd, 4th and 5th parities (p<0.05 or p<0.01). The results may be explained by the deduction that the polymorphisms of ESR locus are no longer the important genetic base of litter size variation when the frequency of allele B accumulated in the experience of selection procedure, and further conferring that there exist special genes associated with litter size in the recent Tongcheng pigs population can be made.

Association Study of Glutathione-S-Transferase M1/T1 Gene Polymorphism with Deficiency-Excess Differentiation-syndrome in Korean Bronchial Asthmatics (한국인 기관지 천식 환자에서 허설변증과 Glutathione-S-Transferase 유전자의 다형성 연구)

  • Yu, Seung-Ryeol;Jeong, Seung-Yeon;Jung, Ju-Ho;Kim, Jin-Ju;Jung, Sung-Ki
    • The Journal of Internal Korean Medicine
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    • v.28 no.3
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    • pp.453-463
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    • 2007
  • Backgrounds : Glutathione-s-transferase (GST) is a kind of phase II metabolism enzyme and plays an important role in the detoxification of various toxic chemicals. It was reported that the genetic polymorphism of GSTM1 and GSTT1 genes may be responsible for asthma development and susceptibility to allergy. Traditional oriental medicine uses a unique diagnostic technique. differentiation-syndrome. to analyze signs and symptoms of patients synthetically. Through differentiation-syndrome. asthma patients can be divided into two groups: the deficiency syndrome group (DSG) and the excess syndrome group (ESG). Objectives : The purpose of this study was to investigate the possible association of GST gene polymorphism with clinical phenotype by differentiation-syndrome of bronchial asthma patients. Materials and Methods : One hundred and ten participants were evaluated by pulmonary function test. Patients with 53 DSG and 31 ESG by differentiation-syndrome were assessed for genetic analysis. GSTM1 and GSTT1 deletion polymorphism was performed by polymerase chain reaction (PCR). Results : GSTM1 gene deletion was detected in 43.4% of individuals in the DSG and in 38.71 % in the ESG. The distribution of GSTM1 polymorphism between DSG and ESG was not significantly different [$x^2$=0.1767, p=0.6742; OR(95% CI)=1.2139(0.4915-2.9979)]. The proportion of GSTT1 null genotypes was 41.51% in the DGS and 45.16% in the ESG. The distribution of GSTT1 polymorphism between DSG and ESG was also not significantly different [$x^2$=0.1065, p=0.7442; OR(95% CI)=0.8618(0.3525-2.1065)]. In the combined analysis of GSTM1 and GSTT1 genes, the frequency of both null type of GSTM1/GSTT1 genes was not significantly different from both positive type of GSTM1/GSTT1 genes[$x^2$=0.0768, p=0.7817; OR(95% CI)=1.2000(0.3303-4.3602)] Conclusions : These results indicate that polymorphism of the GST gene might not be associated with the symptomatic classification of DSG and ESG by differentiation-syndrome in Korean asthmatics.

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Proposal of statistical model adjusted environmental factor in genetic research for high quality Hanwoo production (고품질 한우 생산 유전자 연구에서 환경 요인을 보정한 통계적 모형 제안)

  • Jang, Ji-Eun;Lee, Jae-Young;Oh, Dong-Yep
    • Journal of the Korean Data and Information Science Society
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    • v.26 no.6
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    • pp.1397-1407
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    • 2015
  • Individual phenotype is mostly influenced by genetic factors as well as the effects of environmental factors. Therefore, adjustment of environmental factors are needed in order to see more clearly the effects of genetic factors that we are interested in gene screening study related to Hanwoo's economic trait. The purpose of this study is to propose new statistical model that was adjusted environmental factor and identify adjustment effect in a superior gene marker screening study for producing high quality Hanwoo. First, statistical model including both genetic factor and environmental factor establishes and adjusted value of economic trait find by removing effect of environmental factor such as age, breeding farm. Finally, we identify superior gene marker combination and compare accuracy by applying MDR to data of before and after adjustment. Economic trait is used C18:1, SFA, MUFA, MS, CWT, BFT and SNP marker is used 6 markers of LPL that were identified as more excellent SNP marker than the others among 49 markers through fatty acid composition and economic trait performance test.

Estimation of Variance Component on Swine Economic Traits using Multivariate Maternal Animal Model (다변량 모체효과 모형을 이용한 돼지 경제형질의 분산성분 추정)

  • Park, Jong-Won;Kim, Byeong-Woo;Kim, Si-Dong;Jang, Hyeon-Ki;Jeon, Jin-Tae;Kong, Il-Keun;Lee, Jung-Gyu
    • Journal of agriculture & life science
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    • v.44 no.2
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    • pp.29-38
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    • 2010
  • This study looked into estimation of variance component over swine's economic traits by multiple animal model and maternal effect model using on-farm test data of total 31,455 swine of Duroc, Landrace and Yorkshire species that were born between 2000 and 2008. Heritability by estimated additive genetic effect showed higher than one by maternal genetic effect using multivariate maternal animal model in each trait examined by each breed and most heritability when considering only additive genetic effect in multiple traits animal model was estimated to be higher than one by estimated additive genetic effect in multivariate maternal animal model. In correlation between breeding value by estimated maternal genetic effect and phenotypic value using multivariate maternal animal model, rank correlation and simple correlation of breeding value and phenotypic value by maternal genetic effect also showed low positive correlation or strong negative correlation, which can be considered that if correlation with phenotype were increased properly considering maternal genetic effect in each trait by each breed, even better improvement could be promoted.

Phenylketonuria: Current Treatments and Future Developments (페닐케톤뇨증의 치료: 현재와 미래)

  • Lee, Jeongho
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.20 no.2
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    • pp.37-43
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    • 2020
  • Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in the phenylalanine hydroxylase (PAH) gene. If untreated or late treated, results in profound and irreversible mental disability. Newborn screening test identify patients with phenylketouria. The early initiation of a phenylalanine restricted diet very soon prevents most of the neuropsychiatric complications. However, the diet therapy is difficult to maintain and compliance is poor, especially in adolescents and adulthood. Since 2015, American Medical College of Medical Genetics and Genomics (ACMG) recommended more strong restrictive diet therapy for target blood level of phenylalanine (<360 umol/L). For over four decades the only treatment was a very restrictive low phenylalanine diet. This changed in 2007 with the approval of cofactor therapy (Tetrahydrobiopterin, BH4) which is effective in up to 30% of patients. Data from controlled clinical trials with sapropterin dihydrochloride indicate a similar occurrence of all-cause adverse events with this treatment and placebo. Large neutral aminoacids (LNAA) competes with phenylalanine for transport across the blood-brain-barrier and have a beneficial effect on executive functioning. A new therapy has just been approved that can be effective in most patients with PAH deficiency regardless of their degree of enzyme deficiency or the severity of their phenotype. Phenylalanine ammonia lyase (PAL-PEG) was approved in the USA by FDA in May of 2018 for adult patients with uncontrolled blood phenylalanine concentrations on current treatment. Nucleic acid therapy (therapeutic mRNA or gene therapy) is likely to provide longer term solutions with few side effects.

Detection of blaKPC and blaNDM Genes from Gram-Negative Rod Bacteria Isolated from a General Hospital in Gyeongnam (경남지역 종합병원에서 분리된 그람음성막대균으로부터 blaKPC 및 blaNDM 유전자 검출)

  • Yang, Byoung Seon;Park, Ji Ae
    • Korean Journal of Clinical Laboratory Science
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    • v.53 no.1
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    • pp.49-59
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    • 2021
  • This study investigated the use of real-time PCR melting curves for the diagnosis of blaKPC and blaNDM genes among the most frequently detected carbapenemase-producing Enterobacteriaceae in Korea. As a means of addressing the shortcomings of phenotype tests and conventional PCR. The modified Hodge test confirmed positivity in 25 of 35 strains, and carbapenemase inhibition testing confirmed positivity in 14 strains by meropenem+PBA or meropenem+EDTA. PCR analysis showed amplification products in 25 strains of Klebsiella pneumoniae carbapenemases (KPC), 10 of K. pneumoniae, 5 of E. coli, 5 of A. baumannii, 4 of P. aeruginosa, and 1 of P. putida. New Delhi metallo β-lactamase (NDM) identified amplification products in 8 strains, that is, 2 K. pneumoniae, 3 E. coli, 1 P. aeruginosa, 1 E. cloacae, and 1 P. retgeri strains. Real-time PCR melting curve analysis confirmed amplification in 25 strains of KPC and 8 strains of NDM, and these results were 100% consistent with PCR results. In conclusion, our findings suggest early diagnosis of carbapenem resistant Enterobacteriaceae by real-time PCR offers a potential means of antibacterial management that can prevent and control nosocomial infection spread.

Review: Distribution, Lactose Malabsorption, and Alleviation Strategies of Lactose Intolerance (유당불내증(Lactose Intolerance)의 발생 원인과 경감 방안에 대한 고찰)

  • Yoon, Sung-Sik
    • Journal of Dairy Science and Biotechnology
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    • v.27 no.2
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    • pp.55-62
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    • 2009
  • Milk is called an almost complete food in terms of nutrition, especially for the younger generations because it contains a number of nutrients required for growth and development. Lactose intolerance is defined as a malabsorption of lactose in the intestine with some typical symptoms of abdominal pains and bloating, and occurred at 75% of global populations, which hampers milk consumption worldwide. Lacks of milk consumption in the underdeveloped countries frequently lead to many nutrients deficiencies, so that diseases including osteoporosis, hypertension, and colon cancer are more prevalent in the recent days. Lactose in foods needs to be hydrolyzed prior to intestinal absorption. The hydrolytic enzyme responsible for splitting lactose into its monomeric forms, glucose and galactose, is called as lactase or $\beta$-galactosidase. The former is primarily used as blood sugar and energy source and the latter used in glycolipid synthesis of brain tissues in infants. Lactose is clinically diagnosed with the breath hydrogen production test as well as intestinal biopsy. Reportedly, symptoms of lactose intolerance are widely prevalent at 25% of Europeans, 50 to 80% of Hispanics, South Indians, Africans, and Jews, almost 100% of Asians and native Americans. For the adults, phenotype of lactase persistence, which is able to hydrolyse lactose, is more common in the northern Europeans, but in the other area lactase non-persistence or adult-type hypolactasia is dominant. Genetic analysis on human lactase gene continued that lactase persistence was closely related to the err site of 1390 single nucleotide polymorphism from the 5'-end. To alleviate severity of lactose intolerance symptoms, some eating patterns including drinking milk a single cup or less, consumption along with other foods, whole milk rather than skimmed milk, and drink with live yogurt cultures, are highly recommended for the lactose maldigesters. Also, delay of gastric emptying is effective to avoid the symptoms from lactose intolerance. Frequency of lactose intolerance with conventional diagnosis is thought overestimated mainly because the subjects are exposed to too much lactose of 50 g rather than a single serving amount. Thus simple and accurate diagnostic method for lactose intolerance need to be established. It is thought that fermented milk products and low- or free lactose milks help improve currently stagnant milk consumption due to lactose intolerance which contributes to major barrier in milk marketing especially in Asian countries.

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'Hwawang': A Good Quality and Early-Maturing Rice Variety Adaptable for Rice-Cash Crop Rotation System (소득작물 후작용 고품질 조생 벼품종 '화왕')

  • Lee, Jong-Hee;Lee, Ji-Yoon;Yeo, Un-Sang;Song, You-Chun;Park, Dong-Soo;Hwang, Un-Hwa;Park, Soo-Gwan;Park, No-Bong;Kim, Sang-Yeol;Oh, Seong-Hwan;Han, Sang-Ik;Nam, Min-Hee;Lee, Jong-Gi;Cho, Jun-Hyeon
    • Korean Journal of Breeding Science
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    • v.50 no.4
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    • pp.534-539
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    • 2018
  • 'Hwawang' is an early maturing and short statured rice cultivar adaptable to the rice-cash crop rotation system that was developed by the rice breeding team of the Department of Southern Crop, National Institute of Crop Science (NICS), Rural Development Administration (RDA), Korea, in 2012. This cultivar was derived from the cross of YR25867 (Hitomebore//YR21247-B-B-B-49-1/Sasanishiki BL4) and YR25866 (Akidagomachi//YR21247-B-B-B-49-1/Sasanishiki BL4) during the 2005/2006 winter season and was fixed as a homozygous line by a doubled haploid breeding system. In the replicated yield trial in 2009, a promising line (YR26253Acp26-1) showed a good phenotype and high yield potential, and so it was selected and designated as 'Milyang256'. The local adaptability test of 'Milyang256' was carried out at three locations from 2010 to 2012. It was named 'Hwawang' and had a high head rice ratio and good eating quality. The culm length of 'Hwawang' averaged 62 cm during the yield trials and was 10 cm shorter than that of 'Keumo'. The number of spikelets per panicle of 'Hwawang' was significantly lower than that of 'Keumo', but the number of tillers per hill was higher. This variety showed resistance to bacterial blight disease but was moderately susceptible to both leaf and neck blast. The milled rice yield of 'Hwawang' was 452 kg/10 a at the late transplanting stage of the local adaptability test. Thus, 'Hwawang' is well adapted to the rice-cash crop rotation system in the southern plain area. (Registration No. 5106)

ASSOCIATION STUDY OF ATTENTION-DEFICIT/HYPERACTIVITY DISORDER(ADHD) AND THE DOPAMINE TRANSPORTER(DAT1) GENE - CASE CONTROL DESIGN STUDY - (주의력결핍과잉행동 장애와 도파민 운반체 유전자간 연합연구 - 환자-대조군 디자인 연구 -)

  • Kim Boong-Nyun;Cho Soo-Churl
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.16 no.2
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    • pp.199-210
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    • 2005
  • Objective : Attention deficit hyperactivity disorder(ADHD) affects $5-10\%$ of children in Korea, with more boys and girls being diagnosed. Despite seriousness of ADHD, little is known about its causes. From the current genetic epidemiologic studies, ADHD is known as a heritable disorder. Till now, however, there have been very few genetic studies about ADHD in Korea. The aim of the this study is to examine the association between dopamine transporter gone type 1 and ADHD using case-control design in Korean ADHD probands and normal controls. Materials and Method : Child Psychiatric Genetic research team in Seoul National University Hospital, Clinical Research Institute recruited the ADHD probands using clinical interview/observation, diverse rating scales, and neuropsychological tests. For eliminating phenocopy or ADHD, diagnosis of ADHD was based upon clinical data, psychometric data, and parent/teacher reports. Total 85 ADHD-probands were recruited as final study subjects and independent 100 normal adults participated in this study as control group. For all the ADHD probands, and controls, the 3'-UTR-VNTR polymorphism of DAT1 was analyzed. Based on the DAT1 allele and genotype informations, Chi-square test based on case-control design was performed. Results : As for genetic study, total of 85 probands and 100 controls were included for the genetic analysis. Four different alleles, 350bp (7repeat), 440bp (9repeat), 480bp (10repeat) and 520bp (11repeat) were found in DAT1 gene of study subjects. In case-control analysis, ADHD probands and parents have significantly more 9 repeat allele and 9/10 genotype. Also, The probands with 9repeat allele have more commission errors in ADS. Conclusion : The positive association between ADHD and DAT1 gene was replicated in this report like other previous results for caucasian children and Korean children with ADHD. There are ongoing studies on other candidate genes such as DRD4 and DRD5 and it would be required to explore the association of these candidate genes in Korean children with ADHD. These ongoing genetic research will contribute to the understanding of heterogenous genetic and environmental etiologies of ADHD phenotype, which will lead to the development of more comprehensive treatment and preventive interventions for ADHD.

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