• Title/Summary/Keyword: Genetic evaluation

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ASSOCIATION BETWEEN TOURETTE DISORDER AND CATECHOL-O-METHYL TRANSFERASE(COMT) GENE IN KOREAN SUBJECTS (한국인에 있어서의 뚜렛 장애와 COMT유전자간의 상관 관계에 대한 연구)

  • Kim, Boong-Nyun;Lim, Jae-In;Cho, Soo-Churl
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.15 no.2
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    • pp.178-184
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    • 2004
  • Objectives : This study was conducted to investigate the association of the COMT polymorphism with the TD in Korean sample of families with TD probands. The relationship between risk alleles and specific clinical features (tic severity, comorbidity, drug response) was also explored. Method : Patients were recruited from the Tic Disorder clinic at the Child & Adolescent Psychiatric Division of Seoul National University Hospital and assessed through 2 stage evaluation. Firstly, all the patients and parents received semistructured interview using Korean version of K-SADS-PL. Secondly all the patients received clinical interview and tic severity assessment with Korean version of YGTSS. The subjects in control group were recruited from the health promotion center in out hospital and were evaluated by SCL-90 and SCID-IV. Through these process, total of 42 children and adolescents with TD, their 84 parents and 86 control subjects were finally recruited. Genotyping for The Val158Met polymorphism of the COMT gene was done by standardized method. After collection of genetic data of all the patients, parents and control subjects, case-control comparison and tranmission dysequilibrium test was executed by SPSS version 11. Result : From the case-control comparison, the frequency of L-allele and LL genotype was significantly higher in TD group. However, no differences were found from the TDT. No significant differences were found in in family history of tic, ADHD, OCD, drug response and comorbid conditions among the three different genotypes in patients with TD. Conclusion : Though this study results should be interpreted cautiously due to small sample size and negative finding in TDT test, this study is the first report that there is positive association between the functional polymorphism of COMT gene the TD.

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Perspective of breaking stagnation of soybean yield under monsoon climate

  • Shiraiwa, Tatsuhiko
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2017.06a
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    • pp.8-9
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    • 2017
  • Soybean yield has been low and unstable in Japan and other areas in East Asia, despite long history of cultivation. This is contrasting with consistent increase of yield in North and South America. This presentation tries to describe perspective of breaking stagnation of soybean yield in East Asia, considering the factors of the different yields between regions. Large amount of rainfall with occasional dry-spell in the summer is a nature of monsoon climate and as frequently stated excess water is the factor of low and unstable soybean yield. For example, there exists a great deal of field-to-field variation in yield of 'Tanbaguro' soybean, which is reputed for high market value and thus cultivated intensively and this results in low average yield. According to our field survey, a major portion of yield variation occurs in early growth period. Soybean production on drained paddy fields is also vulnerable to drought stress after flowering. An analysis at the above study site demonstrated a substantial field-to-field variation of canopy transpiration activity in the mid-summer, but the variation of pod-set was not as large as that of early growth. As frequently mentioned by the contest winners of good practice farming, avoidance of excess water problem in the early growth period is of greatest importance. A series of technological development took place in Japan in crop management for stable crop establishment and growth, that includes seed-bed preparation with ridge and/or chisel ploughing, adjustment of seed moisture content, seed treatment with mancozeb+metalaxyl and the water table control system, FOEAS. A unique success is seen in the tidal swamp area in South Sumatra with the Saturated Soil Culture (SSC), which is for managing acidity problem of pyrite soils. In 2016, an average yield of $2.4tha^{-1}$ was recorded for a 450 ha area with SSC (Ghulamahdi 2017, personal communication). This is a sort of raised bed culture and thus the moisture condition is kept markedly stable during growth period. For genetic control, too, many attempts are on-going for better emergence and plant growth after emergence under excess water. There seems to exist two aspects of excess water resistance, one related to phytophthora resistance and the other with better growth under excess water. The improvement for the latter is particularly challenging and genomic approach is expected to be effectively utilized. The crop model simulation would estimate/evaluate the impact of environmental and genetic factors. But comprehensive crop models for soybean are mainly for cultivations on upland fields and crop response to excess water is not fully accounted for. A soybean model for production on drained paddy fields under monsoon climate is demanded to coordinate technological development under changing climate. We recently recognized that the yield potential of recent US cultivars is greater than that of Japanese cultivars and this also may be responsible for different yield trends. Cultivar comparisons proved that higher yields are associated with greater biomass production specifically during early seed filling, in which high and well sustained activity of leaf gas exchange is related. In fact, the leaf stomatal conductance is considered to have been improved during last a couple of decades in the USA through selections for high yield in several crop species. It is suspected that priority to product quality of soybean as food crop, especially large seed size in Japan, did not allow efficient improvement of productivity. We also recently found a substantial variation of yielding performance under an environment of Indonesia among divergent cultivars from tropical and temperate regions through in a part biomass productivity. Gas exchange activity again seems to be involved. Unlike in North America where transpiration adjustment is considered necessary to avoid terminal drought, under the monsoon climate with wet summer plants with higher activity of gas exchange than current level might be advantageous. In order to explore higher or better-adjusted canopy function, the methodological development is demanded for canopy-level evaluation of transpiration activity. The stagnation of soybean yield would be broken through controlling variable water environment and breeding efforts to improve the quality-oriented cultivars for stable and high yield.

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Study on Genetic Evaluation using Genomic Information in Animal Breeding - Simulation Study for Estimation of Marker Effects (가축 유전체정보 활용 종축 유전능력 평가 연구 - 표지인자 효과 추정 모의실험)

  • Cho, Chung-Il;Lee, Deuk-Hwan
    • Journal of Animal Science and Technology
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    • v.53 no.1
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    • pp.1-6
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    • 2011
  • This simulation study was performed to investigate the accuracy of the estimated breeding value by using genomic information (GEBV) by way of Bayesian framework. Genomic information by way of single nucleotide polymorphism (SNP) from a chromosome with length of 100cM were simulated with different marker distance (0.1cM, 0.5cM), heritabilities (0.1, 0.5) and half sibs families (20 heads, 4 heads). For generating the simulated population in which animals were inferred to genomic polymorphism, we assumed that the number of quantitative trait loci (QTL) were equal with the number of no effect markers. The positions of markers and QTLs were located with even and scatter distances, respectively. The accuracies of estimated breeding values by way of indicating correlations between true and estimated breeding values were compared on several cases of marker distances, heritabilities and family sizes. The accuracies of breeding values on animals only having genomic information were 0.87 and 0.81 in marker distances of 0.1cM and 0.5cM, respectively. These accuracies were shown to be influenced by heritabilities (0.87 at $h^2$ =0.10, 0.94 at $h^2$ =0.50). According to half sibs' family size, these accuracies were 0.87 and 0.84 in family size of 20 and 4, respectively. As half sibs family size is high, accuracy of breeding appeared high. Based on the results of this study it is concluded that the amount of marker information, heritability and family size would influence the accuracy of the estimated breeding values in genomic selection methodology for animal breeding.

Agronomic and Genetic Evaluation on a Dull Mutant Line Derived from the Sodium Azide Treated 'Namil', a Non-Glutinous Japonica Rice (남일벼 돌연변이 유래 중간찰 계통의 작물학적 특성 및 배유특성 지배유전자위 표지)

  • Chun, Jae-Buhm;Jeung, Ji-Ung;Cho, Seong-Woo;Kim, Woo-Jae;Ha, Ki-Young;Kang, Kyung-Ho;Ko, Jae-Kwon;Kim, Hyun-Soon;Kim, Bo-Kyeong
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.60 no.4
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    • pp.448-457
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    • 2015
  • Developing rice lines with various amylose contents is necessary to diverse usages of rice in terms of raw materials for processed food production, and thereby to promote rice consumption in Korea. A rice mutant line, 'Namil(SA)-dull1' was established through sodium azide mutagenesis on 'Namil', a non-glutinous Korean Japonica rice cultivar. Namil(SA)-dull1' had dull endosperm characteristics and the evaluated amylose content was 12.2%. A total of 94 F2 progenies from a cross between 'Namil(SA)-dull1' and 'Milyang23', a non-glutinous Tongil-type rice cultivar, was used for genetic studies on the endosperm amylose content. Association analyses, between marker genotypes of 53 SSR anchor markers and evaluated amylose contents of each 94 F2:3 seeds, initially localized rice chromosome 6 as the harboring place for the modified allele(s) directing low amylose content of 'Namil(SA)-dull1'. By increasing SSR marker density on the putative chromosomal region followed by association analyses, the target region was narrowed down 0.94 Mbp segment, expanding from 28.95 Mbp to 29.89 Mbp, on rice chromosome 6 pseudomolecule. Among the SSR loci, RM7555 explained 84.2% of total variation of amylose contents in the $F_2$ population. Further physical mapping on the target region directing low amylose content of 'Namil(SA)-dull1' would increase the breeding efficiency in developing promising rice cultivars with various endosperm characteristics.

Development of Elite Lines with Improved Eating Quality Using RIL Population Derived from the Korean Weedy Rice, Wandoaengmi6 (국내 잡초벼(완도앵미6) 유래 RILs 집단의 식미 관련 특성분석 및 우량계통 선발)

  • Kim, Suk-Man;Park, Seul-Gi;Park, Hyun-Su;Baek, Man-Kee;Jeong, Jong-Min;Cho, Young-Chan;Suh, Jung-Pil;Lee, Keon-Mi;Lee, Chang-Min;Kim, Choon-Song
    • Journal of the Korean Society of International Agriculture
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    • v.31 no.4
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    • pp.428-436
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    • 2019
  • As the main objective of rice breeding programs, rice eating quality is one of critical factors directly determining the market price and the consumer preference. However, the genetic complexity of eating quality and the difficulty in accurate evaluation often constrain improvement of the eating quality in rice breeding programs. In addition, given that the rice eating quality of current cultivars has already reached some high-level, diversifying of genetic resources are demanded more than ever to improve the rice eating quality. In this study, we developed a recombinant inbred lines (RILs) population derive from Wandoaengmi6, a japonica-type Korean weedy rice with high eating quality and a high degree of glossiness of cooked rice. Year-to-year correlations between the traits in three years were shown normal distribution for major agronomic traits and physicochemical characteristics. After evaluating tested traits related to eating quality procedure, a total of ten lines were ultimately selected from the population. Increasement of the taste of cooked rice (TA) and the overall eating quality (OE) were confirmed in the selected lines, which are caused by alleles derived from Wandoaengmi6 without any linkage drag. These results indicate that the utility of wide genomic resources in Korean landrace could be of application in various rice breeding programs and countermeasure to contribute to properly response to climate change.

Environmental Monitoring of Herbicide Tolerant Genetically Modified Zoysiagrass (Zoysia japonica) around Confined Field Trials (제초제저항성 유전자변형 들잔디의 시험 격리포장 주변 환경방출 모니터링)

  • Lee, Bumkyu;Park, Kee Woong;Kim, Chang-Gi;Kang, Hong-Gyu;Sun, Hyeon-Jin;Kwon, Yong-Ik;Song, In-Ja;Ryu, Tae-Hun;Lee, Hyo-Yeon
    • Weed & Turfgrass Science
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    • v.3 no.4
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    • pp.305-311
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    • 2014
  • The cultivation area and use of genetically modified (GM) crops have been increased continuously over the world. Seed distribution and transgenes to environmental ecosystem is one of the most important factors in risk assessment and risk management of GM crop. Safe management for the development and commercialization of GM crops is required according to The Act on Transboundary Movements of Living Modified Organisms,etc (LMO Act) in Korea. This study was conducted to setup the environmental monitoring system of GM zoysiagrass (event JG21 and JG21-MS). The monitoring was performed in 4 GMO confined fields, Sungwhan, Ochang, Jeju University and Jeju Namwon. In the result of monitoring, we could not found any gene flow and distribution of GM zoysiagrass in the 3 fields, but one spill of JG21 was found in the Namwon field in 2012. These results suggest that continuous monitoring is necessary to detect the occurrence of GM zoysiagrass for preventing genetic contamination in natural environment.

Multi-Parameter Approach for Evaluation of Genomic Instability in the Polycystic Ovary Syndrome

  • Sekar, Nishu;Nair, Manju;Francis, Glory;Kongath, Parvathy Raj;Babu, Sandhya;Raja, Sudhakaran;Gopalakrishnan, Abilash Valsala
    • Asian Pacific Journal of Cancer Prevention
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    • v.16 no.16
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    • pp.7129-7138
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    • 2015
  • Background: The polycystic ovary syndrome (PCOS), characterized by hyperandrogenism and chronic anovulation, is a common endocrine disorder in women. PCOS, which is associated with polycystic ovaries, hirsutism, obesity and insulin resistance, is a leading cause of female infertility. In this condition there is an imbalance in female sex hormones. All the sequelae symptoms of PCOS gradually lead to cancer in the course of time. It is heterogeneous disorder of unknown etiology so it is essential to find the exact cause. Materials and Methods: In this study both invasive and non-invasive techniques were employed to establish the etiology. Diagnosis was based on Rotterdam criteria (hyperandrogenism, ovulatory dysfunction, PCOM) and multiparameters using buccal samples and dermatoglypic analysis and cytogenetic study for 10 cases and four age and sex matched controls. Results: In clinical analysis we have observed the mean value of total testosterone level was 23.6nmol/L, total hirsutism score was from 12-24, facial acne was found in in 70% patients with 7-12 subcapsular follicular cysts, each measuring 2-8 mm in diameter. In dermatoglypic analysis we observed increases in mean value ($45.9^{\circ}$) of ATD angle when compared with control group and also found increased frequency (38%) of Ulnar loops on both fingers (UU), (18%) whorls on the right finger and Ulnar loop on left finger (WU) and (16%) arches on right and left fingers (AA) were observed in PCOS patients when compared with control subjects. Features which could be applied as markers for PCOS patients are the presence of Ulnar loops in middle and little fingers of right and left hand. The buccal micronucleus cytome assay in exfoliated buccal cells, we found decrease in frequency of micronuclei and significant increases in frequency of karyolysed nuclei in polycystic ovarian syndrome patients. Chromosome aberration analysis revealed a significant increase in frequency of chromosome aberrations (CAs) in PCOS patients when compared with controls. Conclusions: From this present work it can be concluded that non-invasive technique like dermatoglypics analysis and buccal micronucleus cytome assays with exfoliated buccal cell can also be effective biomarkers for PCOS, along with increased CAs in lymphocytes as a sign of genetic instability. There is a hypothesis that micronuclei and chromosomal aberrations could have a predictive value for cancer. From this present work it can be concluded to some extent that non-invasive technique like dermatoglypics and buccal cell analysis can also be effective for diagnosis.

Evaluation of the Genetic Toxicity of Synthetic Chemicals (Ⅶ) -A Synthetic Selective Herbicide, Pendimethalin- (합성화학물질들의 유전독성평가(Ⅶ) -합성 제초제인 Pendimethalin-)

  • Ryu, Jae-Chun;Kim, Kyung-Ran
    • Environmental Analysis Health and Toxicology
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    • v.18 no.2
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    • pp.121-129
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    • 2003
  • The genotoxicity of pendimethalin [N-(l-ethylpropyl)-2, 6-dinitro-3, 4-xylidine, C$\_$13/H$\_$19/N$_3$O$_4$, M.W.=281.3, CAS No. 40487-42-1], one of selective herbicide, was evaluated in bacterial gene mutation system, chromosome aberration in mammalian cell system and in vivo micronucleus assay with rodent. In bacterial gene mutation assay, pendimethalin revealed dose-dependent mutagenic potential in 313 ∼ 5,000 ${\mu}$g/plate of Salmonella typhimurium TA 98 and TA 1537 both in the absence and presence of S-9 metabolic activation system, and TA 100 only in the absence of S-9 mixture. In the TA 1535, slight increase of revertant was also observed in the presence of S-9 metabolic activation system. No mutagenic potential was observed in the TA 1535 without metabolic activation system and TA l00 in the presence of S-9 mixture. In mammalian cell system using Chinese hamster lung (CHL) fibroblast, no clastogenicity of pendimethalin was observed both in the absence and presence of S-9 metabolic activation system in the concentration range of 2.32∼9.28 ${\mu}$g/ml. And also, in vivo bone marrow micronucleus assay, pendimethalin revealed no clastogenic potential in the dose range of 203∼810 mg/kg body weight after oral administration in mice. Consequently, in vitro chromosome aberration with mammalian cells and in vivo bone marrow micronucleus assay revealed no clastogenic potential of pendimethalin. However, pendimethalin revealed mutagenic potential in bacterial gene mutation assay.

Clinical and Electrophysiological Features of HNPP Patients with 17p11.2 Deletion (염색체 17p11.2 유전자 결손을 동반한 유전성 압박마비 편향 신경병증의 임상적, 전기생리학적 특성)

  • Hong, Yoon-Ho;Kim, Manho;Sung, Jung-Joon;Kim, Sung Hun;Lee, Kwang-Woo
    • Annals of Clinical Neurophysiology
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    • v.4 no.2
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    • pp.125-132
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    • 2002
  • Objectives : Although the diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) is important for correct prognostic evaluation and genetic counseling, the diagnosis is frequently missed or delayed. Our main aim on undertaking this study was to characterize the electrodiagnostic features of HNPP. Material and Methods : Clinical, electrophysiologic and molecular studies were performed on Korean HNPP patients with 17p11.2 deletion. The results of electrophysiologic studies were compared with those of Charcot-Marie-Tooth disease type 1A (CMT1A) patients carrying 17p11.2 duplication. Results : Eight HNPP (50 motor, 39 sensory nerves) and six CMT1A (28 motor, 16 sensory nerves) patients were included. The slowing of sensory conduction in nearly all nerves and the distal accentuation of motor conduction abnormalities are the main features of background polyneuropathy in HNPP. In contrast to CMT1A, where severity of nerve conduction slowing was not different among nerve groups, HNPP sensory nerve conduction was more slowed in the median and ulnar nerves than in the sural nerve (p<0.01), and DML was more prolonged in the median nerve than in the other motor nerves (p<0.01). TLIs were significantly lower in HNPP than in the normal control and CMT1A patients for the median and ulnar nerves (p<0.01), and were also significantly reduced for the peroneal nerve (p<0.05) compared with those of the normal controls. Conclusion : The distribution and severity of the background electrophysiologic abnormalities are closely related to the topography of common entrapment or compression sites, which suggests the possible pathogenetic role of subclinical pressure injury at these sites in the development of the distinct background polyneuropathy in HNPP.

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Comparison of Meat Quality and Sensory Characteristics of Different Native Chickens in Korean Market (시중 유통 토종닭의 품종별 품질 및 관능 특성 비교)

  • Cha, Ju-Su;Kim, Sun Hyo;Jung, Samuel;Kang, Ho Jin;Jo, Cheorun;Nam, Ki-Chang
    • Korean Journal of Poultry Science
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    • v.41 no.1
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    • pp.53-59
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    • 2014
  • To evaluate the meat quality differences of Korean Native Chickens (KNC) available in Korean market, the physicochemical and sensory characteristics of a broiler and two KNC (HH and WD breed) were analyzed. The fat content of KNC WD breast meat was higher than that of KNC HH. The breast and thigh meats of KNC HH had higher $L^*$ and $a^*$ values than the broiler or the KNC WD. WD meats showed greater DPPH radical scavenging activity and higher pH values than the HH. For the fatty acid composition, there was no significant difference in total content of the saturated fatty acids among chicken breeds (p>0.05). KNC had greater content of polyunsaturated fatty acids, especially arachidonic acid (20:4) and DHA (22:6), compared with the broiler. KNC WD meats had higher composition of linolenic acid (18:3) than the KNC HH. For sensory evaluation, the WD breast meat showed higher taste and tenderness scores than the HH. On the other hand, the soup made by broiler had higher taste scores than the KNC. The breast and thigh meat from two KNC breeds showed different quality parameters that may come from the differences of genetic attributes, feed, and production strategy between two breeds.