• 제목/요약/키워드: Genetic interaction

검색결과 458건 처리시간 0.145초

Contribution of the MLH1 -93G>A Promoter Polymorphism in Modulating Susceptibility Risk in Malaysian Colorectal Cancer Patients

  • Nizam, Zahary Mohd;Abdul Aziz, Ahmad Aizat;Kaur, Gurjeet;Abu Hassan, Muhammad Radzi;Mohd Sidek, Ahmad Shanwani;Lee, Yeong Yeh;Mazuwin, Maya;Ankathil, Ravindran
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권2호
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    • pp.619-624
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    • 2013
  • Background: Colorectal cancer (CRC) exists in a more common sporadic form and less common hereditary forms, associated with the Lynch syndrome, familial adenomatous polyposis (FAP) and other rare syndromes. Sporadic CRC is believed to arise as a result of close interaction between environmental factors, including dietary and lifestyle habits, and genetic predisposition factors. In contrast, hereditary forms such as those related to the Lynch syndrome result from inheritance of germline mutations of mismatch repair (MMR) genes. However, in certain cases, the influence of low penetrance alleles in familial colorectal cancer susceptibility is also undeniable. Aim: To investigate the genotype frequencies of MLH1 promoter polymorphism -93G>A and to determine whether it could play any role in modulating familial and sporadic CRC susceptibility risk. Methods: A case-control study comprising of 104 histopathologically confirmed CRC patients as cases (52 sporadic CRC and 52 Lynch syndrome patients) and 104 normal healthy individuals as controls was undertaken. DNA was extracted from peripheral blood and the polymorphism was genotyped employing PCR-RFLP methods. The genotypes were categorized into homozygous wild type, heterozygous and homozygous variants. The risk association between these polymorphisms and CRC susceptibility risk was calculated using binary logistic regression analysis and deriving odds ratios (ORs). Results: When risk association was investigated for all CRC patients as a single group, the heterozygous (G/A) genotype showed a significantly higher risk for CRC susceptibility with an OR of 2.273, (95%CI: 1.133-4.558 and p-value=0.021). When analyzed specifically for the 2 types of CRC, the heterozygous (G/A) genotype showed significantly higher risk for sporadic CRC susceptibility with and OR of 3.714, (95%CI: 1.416-9.740 and p-value=0.008). Despite high OR value was observed for Lynch syndrome (OR: 1.600, 95%CI: 0.715-3.581), the risk was not statistically significant (P=0.253). Conclusion: Our results suggest an influence of MLH1 promoter polymorphism -93G>A in modulating susceptibility risk in Malaysian CRC patients, especially those with sporadic disease.

Assessing the Impact of Climate Change on Water Resources: Waimea Plains, New Zealand Case Example

  • Zemansky, Gil;Hong, Yoon-Seeok Timothy;Rose, Jennifer;Song, Sung-Ho;Thomas, Joseph
    • 한국수자원학회:학술대회논문집
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    • 한국수자원학회 2011년도 학술발표회
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    • pp.18-18
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    • 2011
  • Climate change is impacting and will increasingly impact both the quantity and quality of the world's water resources in a variety of ways. In some areas warming climate results in increased rainfall, surface runoff, and groundwater recharge while in others there may be declines in all of these. Water quality is described by a number of variables. Some are directly impacted by climate change. Temperature is an obvious example. Notably, increased atmospheric concentrations of $CO_2$ triggering climate change increase the $CO_2$ dissolving into water. This has manifold consequences including decreased pH and increased alkalinity, with resultant increases in dissolved concentrations of the minerals in geologic materials contacted by such water. Climate change is also expected to increase the number and intensity of extreme climate events, with related hydrologic changes. A simple framework has been developed in New Zealand for assessing and predicting climate change impacts on water resources. Assessment is largely based on trend analysis of historic data using the non-parametric Mann-Kendall method. Trend analysis requires long-term, regular monitoring data for both climate and hydrologic variables. Data quality is of primary importance and data gaps must be avoided. Quantitative prediction of climate change impacts on the quantity of water resources can be accomplished by computer modelling. This requires the serial coupling of various models. For example, regional downscaling of results from a world-wide general circulation model (GCM) can be used to forecast temperatures and precipitation for various emissions scenarios in specific catchments. Mechanistic or artificial intelligence modelling can then be used with these inputs to simulate climate change impacts over time, such as changes in streamflow, groundwater-surface water interactions, and changes in groundwater levels. The Waimea Plains catchment in New Zealand was selected for a test application of these assessment and prediction methods. This catchment is predicted to undergo relatively minor impacts due to climate change. All available climate and hydrologic databases were obtained and analyzed. These included climate (temperature, precipitation, solar radiation and sunshine hours, evapotranspiration, humidity, and cloud cover) and hydrologic (streamflow and quality and groundwater levels and quality) records. Results varied but there were indications of atmospheric temperature increasing, rainfall decreasing, streamflow decreasing, and groundwater level decreasing trends. Artificial intelligence modelling was applied to predict water usage, rainfall recharge of groundwater, and upstream flow for two regionally downscaled climate change scenarios (A1B and A2). The AI methods used were multi-layer perceptron (MLP) with extended Kalman filtering (EKF), genetic programming (GP), and a dynamic neuro-fuzzy local modelling system (DNFLMS), respectively. These were then used as inputs to a mechanistic groundwater flow-surface water interaction model (MODFLOW). A DNFLMS was also used to simulate downstream flow and groundwater levels for comparison with MODFLOW outputs. MODFLOW and DNFLMS outputs were consistent. They indicated declines in streamflow on the order of 21 to 23% for MODFLOW and DNFLMS (A1B scenario), respectively, and 27% in both cases for the A2 scenario under severe drought conditions by 2058-2059, with little if any change in groundwater levels.

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효율적인 생식선 카이메라 생산을 위한 최적 조건 확립에 관한 비교 연구

  • 김진남;박태섭;송권화;이영목;권혁모;한재용
    • 한국가금학회:학술대회논문집
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    • 한국가금학회 2001년도 제18차 정기총회 및 학술발표 PROCEEDINGS
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    • pp.71-73
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    • 2001
  • 본 연구는 원시생식기 유래 원시생식세포를 이용하여 효율적인 생식선 카이메라 생산 조건을 확립하고자 하였다 전체 실험구에서 301마리가 부화하였으며, 이중 수컷 141마리, 암컷 160마리가 성성숙에 도달하였다. 후대 검정을 통하여 수컷 15마리와 암컷 12마리가 생식선 카이메라로 밝혀졌으며, 생식선 카이메라 생산 효율은 평균 9.0%였다. 실험처리구간 생식선 카이메라 생산효율간에 유의적인 차이는 없었으나 (p=0.6831), 생식선 카이메라의 공여체 유래 자손 생산 효율은 유의적인 차이를 나타냈다. 실험처리구간 생식선 카이메라의 공여체 유래 자손 생산효율은 피콜처리 없이 10일간 배양한 원시생식세포를 이식하였을 때 가장 높았고 (49.7%), 피콜처리후 배양하지 않은 원시생식세포를 이식하였을 때 가장 낮았다 (0.6%). 또한, 피콜 처리에 상관없이 10일간 배양한 원시생식세포를 이식한 실험구가 배양하지 않은 실험구와 5일간 배양한 실험구보다 각각 50배와 10배 더 높은 전이효율을 나타내었다 (p<0.0001). 따라서, 수용체 배자에 이식하기전에 실시한 체외배양 기간은 효율적인 생식선 카이메라 생산에 있어서 매우 중요한 요인으로 사료된다. 이와 같이, 본 연구에서는 배양 기간, 피콜 처리 유무 등에 대한 비교 분석을 통하여 생식선 카이메라 생산을 위한 최적 조건을 확립하였다.

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Double Mutations in eIF4E and eIFiso4E Confer Recessive Resistance to Chilli Veinal Mottle Virus in Pepper

  • Hwang, JeeNa;Li, Jinjie;Liu, Wing-Yee;An, Song-Ji;Cho, Hwajin;Her, Nam Han;Yeam, Inhwa;Kim, Dosun;Kang, Byoung-Cheorl
    • Molecules and Cells
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    • 제27권3호
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    • pp.329-336
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    • 2009
  • To evaluate the involvement of translation initiation factors eIF4E and eIFiso4E in Chilli veinal mottle virus (ChiVMV) infection in pepper, we conducted a genetic analysis using a segregating population derived from a cross between Capsicum annuum 'Dempsey' containing an elF4E mutation ($pvr1^2$) and C. annuum 'Perennial' containing an elFiso4E mutation (pvr6). C. annuum 'Dempsey' was susceptible and C. annuum 'Perennial' was resistant to ChiVMV. All $F_1$ plants showed resistance, and $F_2$ individuals segregated in a resistant-susceptible ratio of 166:21, indicating that many resistance loci were involved. Seventy-five $F_2$ and 329 $F_3$ plants of 17 families were genotyped with $pvr1^2$ and pvr6 allele-specific markers, and the genotype data were compared with observed resistance to viral infection. All plants containing homozygous genotypes of both $pvr1^2$ and pvr6 were resistant to ChiVMV, demonstrating that simultaneous mutations in elF4E and eIFiso4E confer resistance to ChiVMV in pepper. Genotype analysis of $F_2$ plants revealed that all plants containing homozygous genotypes of both $pvr1^2$ and pvr6 showed resistance to ChiVMV. In protein-protein interaction experiments, ChiVMV viral genome-linked protein (VPg) interacted with both eIF4E and eIFiso4E. Silencing of elF4E and eIFiso4E in the VIGS experiment showed reduction in ChiVMV accumulation. These results demonstrated that ChiVMV can use both eIF4E and eIFiso4E for replication, making simultaneous mutations in eIF4E and eIFiso4E necessary to prevent ChiVMV infection in pepper.

Stem Cells and Cell-Cell Communication in the Understanding of the Role of Diet and Nutrients in Human Diseases

  • Trosko James E.
    • 한국식품위생안전성학회지
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    • 제22권1호
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    • pp.1-14
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    • 2007
  • The term, "food safety", has traditionally been viewed as a practical science aimed at assuring the prevention acute illnesses caused by biological microorganisms, and only to a minor extent, chronic diseases cause by chronic low level exposures to natural and synthetic chemicals or pollutants. "food safety" meant to prevent microbiological agents/toxins in/on foods, due to contamination any where from "farm to Fork", from causing acute health effects, especially to the young, immune-compromised, genetically-predisposed and elderly. However, today a broader view must also include the fact that diet, perse (nutrients, vitamins/minerals, calories), as well as low level toxins and pollutant or supplemented synthetic chemicals, can alter gene expressions of stem/progenitor/terminally-differentiated cells, leading to chronic inflammation and other mal-functions that could lead to diseases such as cancer, diabetes, atherogenesis and possibly reproductive and neurological disorders. Understanding of the mechanisms by which natural or synthetic chemical toxins/toxicants, in/on food, interact with the pathogenesis of acute and chronic diseases, should lead to a "systems" approach to "food safety". Clearly, the interactions of diet/food with the genetic background, gender, and developmental state of the individual, together with (a) interactions of other endogenous/exogenous chemicals/drugs; (b) the specific biology of the cells being affected; (c) the mechanisms by which the presence or absence of toxins/toxicants and nutrients work to cause toxicities; and (d) how those mechanisms affect the pathogenesis of acute and/or chronic diseases, must be integrated into a "system" approach. Mechanisms of how toxins/toxicants cause cellular toxicities, such as mutagenesis; cytotoxicity and altered gene expression, must take into account (a) irreversible or reversal changes caused by these toxins or toxicants; (b)concepts of thresholds or no-thresholds of action; and (c) concepts of differential effects on stem cells, progenitor cells and terminally differentiated cells in different organs. This brief Commentary tries to illustrate this complex interaction between what is on/in foods with one disease, namely cancer. Since the understanding of cancer, while still incomplete, can shed light on the multiple ways that toxins/toxicants, as well as dietary modulation of nutrients/vitamins/metals/ calories, can either enhance or reduce the risk to cancer. In particular, diets that alter the embryo-fetal micro-environment might dramatically alter disease formation later in life. In effect "food safety" can not be assessed without understanding how food could be 'toxic', or how that mechanism of toxicity interacts with the pathogenesis of any disease.

소맥(小麥) 품질특성(品質特性)의 유전(遺傳) 및 환경적(環境的) 변이(變異) (Effect of Genetic-Environmental Interaction on Quality of Wheat)

  • 장학길;김창식;하덕모;신효선
    • 한국식품과학회지
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    • 제18권1호
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    • pp.31-37
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    • 1986
  • 우리나라에 있어서 소맥품질특성(小麥品質特性)의 유전(遺傳) 및 환경적(環境的) 변이(變異)를 구명(究明)하기 위하여 경(硬), 연질(軟質) 소맥(小麥) 7품종(品種)을 전국 9개 지역(地域)에 공시(供試)하여 그 관계를 2년에 걸쳐 검토하였다. Eberhart와 Russell의 통계적(統計的) 평가방법(平價方法)에 따라 회귀계수(回歸係數)는 적응성(適應性)의 척도(尺度)로 결정계수(決定係數)는 안정성(安全性)의 척도(尺度)로 이용하였다. 아울러 각 품질특성(品質特性)의 표현형(表現型) 및 환경상관(環境相關)을 추정하였다. 제분율(製粉率)은 품종(品種)의 유전적(遺傳的) 특성(特性)에는 차이가 있었으나 환경변화(環境變化)와는 무관하였으며, 단백질함량(蛋白質含量)은 결정계수(決定係數)가 $0.689{\sim}0.960$으로 환경변화(環境變化)에 따라 일정하게 변화되었다. Pelshenke 값과 침전가(沈澱價)의 환경변화(環境變化)의 영향은 경질품종(硬質品種)이 연질품종(軟質品種)보다 컸다. 단백질함량(蛋白質含量) 침전가(沈澱價), Pelshenke값 및 빵비용적(比容積)간에는 표현형(表現型) 및 유전형상관(遺傳型相關)에서 높은 정(正)의 상관(相關)이 있었으며, 비교적 높은 유전력(遺傳力)이 침전가(沈澱價)($h^2=0.747)$), 단백질함량(蛋白質含量)($h^2=0.577$ 및 빵비용적(比容積)($h^2=0.551$에서 인정되었다.

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순천만 칠면초의 근권으로부터 분리된 해양세균의 다양성 및 계통학적 분석 (Diversity and Phylogenetic Analysis of Culturable Marine Bacteria Isolated from Rhizosphere Soils of Suaeda japonica Makino in Suncheon Bay)

  • 유영현;박종명;남윤종;김현;이명철;김종국
    • 생명과학회지
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    • 제25권2호
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    • pp.189-196
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    • 2015
  • 순천만 일대 칠면초 군락의 근권 토양에 존재하는 근권 세균의 다양성 분석을 위해 몇 개 지점을 선정한 후 샘플링을 실시하였다. 채취한 토양시료는 marine broth, tryptic soy broth 한천배지를 이용하면서 세균 집락 간 형태학적인 구분을 통해 순수분리 되었다. 분리된 세균의 genomic DNA를 획득한 후, 각각의 16S rDNA 염기서열을 증폭 분석하여 총 29 strain이 부분동정 되었다. 이들의 유연관계 확인을 위해 계통수를 작성한 결과, 이들은 각각 firmicutes문 (44.8%), gamma-proteobacteria group (27.6%), alpha-proteobacteria group (10.3%), bacteriodetes 문(10.3%), actinobacteria 문(6.8%)에 속하였다. 최우점하는 firmicutes 문에서는 Bacillus 속이, 차 우점하는 gamma-proteobacteria group에서는 각각 Marinobacterium, Halomonas, Vibrio 속이 집중 분포하는 것으로 나타났다. 또한 채취 지점별로 몇 가지 척도를 사용하여 다양성 지수를 도출하였을 때, 채취 지점 간 지수의 차이를 보여 전체 순천만 갯벌 중 위치에 따라 상이한 미생물상을 가지는 것으로 추측된다. 분리된 균들 중 일부는 갯벌 특유의 극한환경을 극복하면서 칠면초 근권에서 생존하며 물질순환, 식물생장 촉진 및 병원체 방어작용 유도 등 식물생장에 긍정적 역할을 수행할 것으로 생각된다.

Comparison of Molecular Linkage Maps and QTLs for Morphological Traits in Two Reciprocal Backcross Populations of Rice

  • Qiao, Yongli;Jiang, Wenzhu;Rahman, Md Lutfor;Chu, Sang-Ho;Piao, Rihua;Han, Longzhi;Koh, Hee-Jong
    • Molecules and Cells
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    • 제25권3호
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    • pp.417-427
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    • 2008
  • Comparison of maps and QTLs between populations may provide us with a better understanding of molecular maps and the inheritance of traits. We developed and used two reciprocal $BC_1F_1$ populations, IP/DS//IP and IP/DS//DS, for QTL analysis. DS (Dasanbyeo) is a Korean tongil-type cultivar (derived from an indica x japonica cross and similar to indica in its genetic make-up) and IP (Ilpumbyeo) is a Korean japonica cultivar. We constructed two molecular linkage maps corresponding to each backcross population using 196 markers for each map. The length of each chromosome was longer in the IP/DS//IP population than in the IP/DS//DS population, indicating that more recombinants were produced in the IP/DS//IP population. Distorted segregation was observed for 44 and 19 marker loci for the IP/DS//IP and IP/DS//DS populations, respectively; these were mostly skewed in favor of the indica alleles. A total of 36 main effect QTLs (M-QTLs) and 15 digenic epistatic interactions (E-QTLs) were detected for the seven traits investigated. The phenotypic variation explained (PVE) by M-QTLs ranged from 3.4% to 88.2%. Total PVE of the M-QTLs for each trait was significantly higher than that of the E-QTLs. The total number of M-QTLs identified in the IP/DS//IP population was higher than in the IP/DS//DS population. However, the total PVE by the M-QTLs and E-QTLs together for each trait was similar in the two populations, suggesting that the two $BC_1F_1$ populations are equally useful for QTL analysis. Maps and QTLs in the two populations were compared. Eleven new QTLs were identified for SN, SF, GL, and GW in this study, and they will be valuable in marker-assisted selection, particularly for improving grain traits in tongil-type varieties.

Gene-gene interaction in cerebral infarction patients: Relationship between apolipopreotein E gene polymorphism and Sasang-constitution

  • Um, Jae-Young;Kim, Jong-Kwan;Joo, Jong-Cheon;Kim, Kyung-Yo;Hong, Seung-Heon;Kim, Hyung-Min
    • Advances in Traditional Medicine
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    • 제4권2호
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    • pp.104-111
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    • 2004
  • Sasang Constitutional Medicine is a major branch of Korean Traditional Oriental Medicine. The differences of disease susceptibility to be shown in Sasang constitution may be due to genetic factors. Therefore, we examined interrelationship among cerebral infarction (CI), apolipoprotein E (apoE) gene polymorphism, and Sasang constitutional classification. ApoE is a key protein modulating the highly atherogenic apoB containing lipoproteins and is a candidate gene for the development of coronary artery disease (CAD). The ${\varepsilon}2\;and/or\;{\varepsilon}4$ alleles were the first to be implicated in premature CAD, which resulted in this polymorphism being extensively studied. We investigated the association between apoE genotype and CI by case-control study in a Korean population. We also classified CI patients and control group into groups according to Sasang Constitutional Medicine. 196 CI patients and 379 controls without CI were examined. ApoE genotype was determined by 8% polyacrylamide gel separation after DNA amplification. A significant difference in the apoE genotype distribution was observed in the CI patients compared with that in controls ($X^{2}$=14.920, df=4, P=0.005). Also, the frequency of Taeumin constitution in patients with CI was significantly higher than that in controls (58.0% vs. 36.9%; P<0.001). However, the Taeumin constitution did not enhance the relative risk for CI in the subjects with apoE ${\varepsilon}2\;and/or\;{\varepsilon}4$ alleles. No differences in the apoE genotypes frequencies were observed in the Taeumin compared with that in the other constitutions. In addition, we investigated whether the DD genotype of angiotensin converting enzyme (ACE) gene, a candidate gene for CI, was associated with CI, Taeumin constitution, and apoE polymorphism. As a result, the frequency of Taeumin constitution was significantly higher in CI patients with both apoE ${\varepsilon}3/{\varepsilon}4$ and ACE ID/DD genotypes than in the remaining Sasang constitutions (14.5% vs. 8.3% and 0%) ($X^{2}$=13.521, df=6, P=0.035). In summary, we concluded that the apoE polymorphism is a major risk factor for CI in Koreans and the ACE ID/DD genotype enhanced the relative risk for CI in the subjects with apoE ${\varepsilon}3/{\varepsilon}4$ genotype and Taeumin constitution.

선발지수(選拔指數)에 의(依)한 수도품종(水稻品種)의 선발(選拔) (Selection of Rice Varieties by Selection Index)

  • 최봉호;정근식
    • 농업과학연구
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    • 제6권1호
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    • pp.1-14
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    • 1979
  • 안전(安全) 다수성(多收性)인 수도품종(水稻品種)을 선발(選拔)하기 위하여 10개(個) 품종(品種)을 6개(個)의 상이(相異)한 재배환경하(栽培環境下)에서 3반복(反復)으로 각각(各各) 시험(試驗)한 후 Hazel 방법(方法)(선발지수(選拔指數 I)과 Pesek 등 방법(方法)(선발지수(選拔指數 II)에 의(依)해 지수(指數)를 계산(計算)하여 비교(比較)하였던 결과(結果)는 다음과 같다. 조사(調査)한 특성(特性)은 수량(收量)을 비롯하여 6개였다. 1. 10개(個) 품종(品種)가운데서 재배방법(栽培方法)이 상이(相異)함에도 불구(不拘)하고 품종번호(品種番號) 6, 3, 4, 5가 우수(優秀)한 품종(品種)으로 판별(判別)되었다. 2. 일반조건하(一般條件下)에서의 품종선발(品種選拔)을 위해서는 선발지수(選拔指數) I(Hazal 방법(方法))이 좋을 것이나 특수환경하(特殊環境下)에서는 오히려 Pesek 방법(方法)(선발지수(選拔指數) II)이 유리(有利)할 것으로 보여졌다. 3. 지수상(指數上)으로 본 품종(品種)의 순위(順位)가 특성(特性)들 특(特)히 수량(收量)의 순위(順位)와는 정확(正確)히 일치(一致)하지 않아 더욱 지수법(指數法)의 의미를 새롭게 했다. 4. 재배방법(栽培方法)에 따라 또는 품종(品種)의 특성(特性)에 따라 약간 다르기는 했지만 특성(特性)의 대부분(大部分)이 높은 유전력(遺傳力)(광의(廣意)의)을 보였다. 5. 품종(品種)과 6개의 상이(相異)한 재배환경(栽培環境)사이에는 상호작용(相互作用)이 인정(認定)되지 않았다. 6. 6개(個) 특성(特性)가운데 수수(穗數)만이 품종간(品種間)에 유의차(有意差)가 인정(認定)되지 않았고(재배방법(栽培方法) 2, 4, 5에서) 다른 특성(特性)들은 모두 품종간(品種間)에 고도(高度)의 유의차(有意差)가 인정(認定)되었다.

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