• Title/Summary/Keyword: Genetic Testing

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Characteristics of Lentinula edodesCultivar 'Heunghwa 1ho' Newly Bred for Log Cultivation (표고(Lentinula edodes) 원목재배용 신품종 '흥화1호' 육성 및 재배 특성)

  • Jang, Eun-Kyoung;Je, Seon-Jeong;Jang, Hye-Mi;Ban, Seung-Eon
    • Journal of Mushroom
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    • v.20 no.3
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    • pp.147-152
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    • 2022
  • To develop mushroom varieties for cultivating at low temperature on oak logs, a strain with a low fruiting body generation temperature was crossed with Di-mon to select for a line with excellent properties. Selection was followed by cultivation testing. From these studies, Heunghwa 1ho was identified. The optimum temperature for cultivating Heunghwa 1ho, was 13.3℃. The fruiting temperature range was 6.4~20.2℃, identical to that of the parent strain. Growth at 25℃ for 7 days achieved optimal mycelial growth of 61.9±2.10 mm, superior to growth of the parent strain at this temperature. The cap shape of Heunghwa 1ho was convex, cap diameter was 57.8±8.31 mm, and cap color was brown. Heunghwa 1ho showed similar genetic traits to those of the parental strain. However, dry weight (20.1 kg/m3) and cap diameter and color are superior to those of the parent strain. The 3 year fresh oak mushroom yield was 113.8 kg/m3, superior to the respective yields of the parent strains JMI 10047 and JMI 90021 (92.5 kg/m3 and 66.4 kg/m3).

Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran

  • Azadegan-Dehkordi, Fatemeh;Bahrami, Tayyebe;Shirzad, Maryam;Karbasi, Gelareh;Yazdanpanahi, Nasrin;Farrokhi, Effat;Koohiyan, Mahbobeh;Tabatabaiefar, Mohammad Amin;Hashemzadeh-Chaleshtori, Morteza
    • Journal of Audiology & Otology
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    • v.23 no.1
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    • pp.20-26
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    • 2019
  • Background and Objectives: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. Subjects and Methods: Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project). Results: A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p<0.001). Conclusions: Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population.

Prediction of Germination of Korean Red Pine (Pinus densiflora) Seed using FT NIR Spectroscopy and Binary Classification Machine Learning Methods (FT NIR 분광법 및 이진분류 머신러닝 방법을 이용한 소나무 종자 발아 예측)

  • Yong-Yul Kim;Ja-Jung Ku;Da-Eun Gu;Sim-Hee Han;Kyu-Suk Kang
    • Journal of Korean Society of Forest Science
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    • v.112 no.2
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    • pp.145-156
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    • 2023
  • In this study, Fourier-transform near-infrared (FT-NIR) spectra of Korean red pine seeds stored at -18℃ and 4℃ for 18 years were analyzed. To develop seed-germination prediction models, the performance of seven machine learning methods, namely XGBoost, Boosted Tree, Bootstrap Forest, Neural Networks, Decision Tree, Support Vector Machine, PLS-DA, were compared. The predictive performance, assessed by accuracy, misclassification, and area under the curve (0.9722, 0.0278, and 0.9735 for XGBoost, and 0.9653, 0.0347, and 0.9647 for Boosted Tree), was better for the XGBoost and decision tree models when compared with other models. The 54 wave-number variables of the two models were of high relative importance in seed-germination prediction and were grouped into six spectral ranges (811~1,088 nm, 1,137~1,273 nm, 1,336~1,453 nm, 1,666~1,671 nm, 1,879~2,045 nm, and 2,058~2,409 nm) for aromatic amino acids, cellulose, lignin, starch, fatty acids, and moisture, respectively. Use of the NIR spectral data and two machine learning models developed in this study gave >96% accuracy for the prediction of pine-seed germination after long-term storage, indicating this approach could be useful for non-destructive viability testing of stored seed genetic resources.

Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran

  • Azadegan-Dehkordi, Fatemeh;Bahrami, Tayyebe;Shirzad, Maryam;Karbasi, Gelareh;Yazdanpanahi, Nasrin;Farrokhi, Effat;Koohiyan, Mahbobeh;Tabatabaiefar, Mohammad Amin;Hashemzadeh-Chaleshtori, Morteza
    • Korean Journal of Audiology
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    • v.23 no.1
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    • pp.20-26
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    • 2019
  • Background and Objectives: Autosomal recessive non-syndromic hearing loss (ARNSHL) with genetic origin is common (1/2000 births). ARNSHL can be associated with mutations in gap junction protein beta 2 (GJB2). To this end, this cohort investigation aimed to find the contribution of GJB2 gene mutations with the genotype-phenotype correlations in 45 ARNSHL cases in the Kurdish population. Subjects and Methods: Genomic DNA was extracted from a total of 45 ARNSHL families. The linkage analysis with 3 short tandem repeat markers linked to GJB2 was performed on 45 ARNSHL families. Only 9 of these families were linked to the DFNB1 locus. All the 45 families who took part were sequenced for confirmation linkage analysis (to perform a large project). Results: A total of three different mutations were determined. Two of which [c.35delG and c.-23+1G>A (IVS1+1G>A)] were previously reported but (c.299-300delAT) mutation was novel in the Kurdish population. The homozygous pathogenic mutations of GJB2 gene was observed in nine out of the 45 families (20%), also heterozygous genotype (c.35delG/N)+(c.-23+1G>A/c.-23+1G>A) were observed in 4/45 families (8.8%). The degree of hearing loss (HL) in patients with other mutations was less severe than patients with c.35delG homozygous mutation (p<0.001). Conclusions: Our data suggest that GJB2 mutations constitute 20% of the etiology of ARNSHL in Iran; moreover, the c.35delG mutation is the most common HL cause in the Kurdish population. Therefore, these mutations should be included in the molecular testing of HL in this population.

A Study on Microbial Community Diversity and Antibiotic Resistance in Public Waters in Gwangju (광주지역 공공수역의 미생물 군집 다양성 및 항생제 내성에 관한 연구)

  • Sun-Jung Kim;Ji-Young Park;Seung-Ho Kim;Min-Hwa Lim;Ji-Yong Yu;Kyu-Sung Han;Se-Il Park;Gwangyeob Seo;Gwangwoon Cho
    • Journal of Environmental Health Sciences
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    • v.50 no.2
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    • pp.93-101
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    • 2024
  • Background: As pollutants caused by non-point sources flow into rivers, river water quality monitoring for fecal pollution is becoming increasingly important. Objectives: This study was conducted to investigate the distribution of microbial communities in the Yeongsangang River water system and sewage treatment plants in Gwangju and to evaluate their antibiotic resistance. Methods: In the experiment, samples were distributed to five selective media at each point and then cultured for 18 to 24 hours. When bacteria were observed, they were sub-cultured by size and shape and identified using MALDI-TOF MS equipment. When identification was completed, 17 types of antibiotic susceptibility tests were performed using VITEK II equipment, focusing on gram-negative dominant species among the identified strains. Results: During the study period, a total of 266 strains were isolated from 39 samples. Gram-positive bacteria were 37 strains in four genera, or 13.9% of the total, and Gram-negative bacteria were 229 strains in 23 genera, or 86.1% of the total. Antibiotic susceptibility testing of 23 strains, the major dominant species, showed that one strain (4.3%) was resistant to only one antibiotic, and two strains (8.7%) were 100% susceptible to the 17 antibiotics tested. The other 20 strains (87.0%) were multidrug resistant bacteria resistant to two or more antibiotics. There were various types of multidrug resistance. Among them, penicillin and cephalosporin series showed the highest resistance. Conclusions: Based on the results of this study, it was found that the bacterial community structure changed according to regional and environmental factors, and it was judged that continuous research such as genetic analysis of antibiotic-resistant bacteria present in natural rivers is necessary.

Population-Based Newborn Hearing Impairment Screening Test Using GJB2 Mutation Analysis

  • Lee, Kyung-Ok;Jeong, Su-Jin;Byun, Ji-Young;Kim, Jeong-Sook;Lee, Hye-Jung;Seong, Hye-Soon;Kim, Kyung-Tae
    • Korean Journal of Clinical Laboratory Science
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    • v.39 no.2
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    • pp.113-121
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    • 2007
  • Hearing loss is a common congenital disorder that is frequently associated with mutations in the Cx26 gene (GJB2). Recently, the mutation analysis of GJB2 has been used in a newborn screening test for the detection of hearing impairment. Population-based studies should be performed before the application of genetic testing for the identification of deaf newborns. In this study, 8 positions of GJB2 mutations-including 35delG, 167delT, 235delC, V27I, V37I, M34T, E114G, and I203T-were analyzed using PCR-direct sequencing in a total of 437 healthy Korean neonates. DNAs from dried blood spots were extracted using a commercial DNA extraction kit. The PCR-amplified products (783 bps) of the GJB2 gene were detected using 2% agarose gel electrophoresis and subjected to direct sequencing. The sequences were compared with those in the GenBank database by using the BLAST program. In this study, 5 GJB2 mutations -including V27I (79G>A), V37I (109G>A), E114G (341A>G), I203T (608T>C), and 235delC- were found. Of the 437 neonate samples, 301 subjects showed GJB2 mutations (68.9%, 301/437). The V27I mutation was found in 271 subjects and was the most frequent (62.0%, 271/437). The E114G, I203T and V37I mutations were shown in 146, 17 and 14 subjects, respectively. The 235delC mutation was found in 1 subject. The E114G mutation was frequently accompanied by the V27I mutation. V27I/E114G (97.2%, 143/147) was the most common double mutation and 3 subjects had the double mutation V27I/I203T. A triple mutation, V27I/E114G/I203T, was found in 1 subject. In conclusion, PCR-direct sequencing is a convenient tool for the rapid detection of GJB2 mutations and this data might provide information for the genetic counseling of the GJB2 gene.

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A Case Report of Novel Mutation in GNPTAB in Two Siblings with Mucolipidosis Type III Alpha/beta (GNPTAB 유전자에서 새로운 돌연변이가 확인된 뮤코지방증 III형 남매)

  • Kim, Min-Sun;Park, Esther;Song, Ari;Im, Minji;Park, Hyung-Doo;Cho, Sung Yoon;Jin, Dong-Kyu
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.18 no.3
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    • pp.99-106
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    • 2018
  • Mucolipidosis type III (pseudo-Hurler polydystrophy) is a mucolipids degrading disorder caused by a mutation in the GNPTAB gene and is inherited by autosomal recessive. It is diagnosed by examining highly concentrated mucolipids in blood and the diagnosis can be confirmed by genetic testing. Mucolipidosis type III is a rare and progressive metabolic disorder. Its initial signs and symptoms usually occur around 3 years of age. Clinical manifestations of the disease include slow growth, joint stiffness, arthralgia, skeletal abnormalities, heart valve abnormalities, recurrent respiratory infection, distinctive facial features, and mild intellectual disability. Here, we are presenting two siblings of mucolipidosis type III, a 4-year-old female and a 2 years and 7 months old male with features of delayed growth and coarse face. The diagnosis was confirmed by [c.2715+1G>A(p.Glu906Leufs*4), c.2544del(p.Glu849Lysfs*22)] mutation in targeted gene panel sequencing. In this case, c.2544del is a heterozygote newly identified mutation in mucolipidosis type III and was not found in the control group including the genome aggregation database. And it is interpreted as a pathogenic variant considering the association with phenotype. Here, we report a Korean mucolipidosis type III patients with novel mutations in GNPTAB gene who have been treated since early childhood. Owing to recent development of molecular genetic techniques, it was possible to make early diagnosis and treatment with pamidronate was initiated appropriately in case 1. In addition to these supportive therapies, efforts must be made to develop fundamental treatment for patients with early diagnosis of mucolipidosis.

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An Evaluation of Polycross Progenies for Leaf and Plant Characteristics in Winter Active Tall Fescue (Festuca arundinacea Schreb.) - I. Summer Forage Phase (동기생육형(冬期生育型) 톨페스큐의 엽(葉)및 지상부형질(地上部形質)에 관(關)한 다교배(多交配) 후대검정(後代檢定))

  • Kim, Dal Ung
    • Korean Journal of Agricultural Science
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    • v.2 no.2
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    • pp.357-373
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    • 1975
  • This study was conducted to evaluate the winter active polycross progenies of 10 genotypes selected at the hot and dry climate of the Southern Oregon in their performance in the progeny test comparing with a high yielding variety, 'Fawn', and a winter active variety, 'TFM', as the control varieties at Daejon, Korea. Various plant and leaf characteristics, especially which related to photosynthesis, and forage production during the first summer after their establishment, were examined. The important conclusions of this study are summarized as follows: 1. The winter active genotypes and variety had less leaf fresh weight and dry weight per leaf than variety 'Fawn'. Variations among polycross progenies of genotypes for these characteristics were great. 2. The winter active genotypes and variety had less leaf area per leaf than variety 'Fawn'. Leaf area among polycross progenies of genotypes deviated greatly and poly cross progenies of 'genotype-16' had the same average leaf area as 'Fawn'. 3. Differences of specific leaf weight (S. L. W.) in the winter active genotypes and variety were not significant. Probably the genetic diversity for S. L. W were not big and were narrowed down already in this genetic population. It was suggested that the photosynthate production within the population might not be different and there might be differences in the photosynthate production-translocation balance. Further study for the diurnal change in S. L. W. within the population might be useful. 4. The winter active variety and genotypes had less leaf width than 'Fawn' does. Leaf width among polycross progenies of genotypes deviated significantly. 5. Differences among controls and polycross progeny group in the initial plant height were significant and variety 'Fawn' was taller than the winter active genotypes and variety. But the differences were not significant in the regrowth of plant height after the first forage harvest. On the contrary. the differences among polycross progenies of genotypes were not significant in the initial plant but the differences in their polycross progeny performance became obvious and great in the regrowth ability which is an improtent agronomic characteristics for forage crops produced in the pasture and for hay and silage. 6. Plant width of the winter active genotypes and variety was lesser than 'Fawn' variety. 7. Differences of tiller number became evident and variety 'Fawn' had higher tiller number than the winter active genotypes and variety after the first forage cutting. There, deviations among polycross progenies of genotypes were great for this characteristic. It was obvious that the genetic differences became more evident in the second measurement after the first cutting of forage probably because this characteristic were stimulated by defoliation in the cartain genotypes and variety. 8. The winter active genotypes and variety on the initial growth. the regrowth ability andtotal yield had lesser forage yield than variety 'Fawn'. Deviation of forage yield among polycross progenies of genotypes were great and gave basis for selection according to their polycross progeny performance improving the forage yield of these winter active tall fescue population during summer. 9. It was concluded that the winter active variety and genotypes in this study was poorer than variety 'Fawn' for the most of leaf and plant characteristics including forage yield. For these measurements, the variations among polycross progenies of genotypes were great. and plant breeding might able to improve further this winter active tall fescue through the polycross progeny testing method for the higher forage production during summer in Korea. 10. The result of the associations among various characteristics under study were quite agreeable with the results of the analysis of variance and woul be useful in the selection of desirable genotypes for the development of a new variety.

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A study on the prediction of korean NPL market return (한국 NPL시장 수익률 예측에 관한 연구)

  • Lee, Hyeon Su;Jeong, Seung Hwan;Oh, Kyong Joo
    • Journal of Intelligence and Information Systems
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    • v.25 no.2
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    • pp.123-139
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    • 2019
  • The Korean NPL market was formed by the government and foreign capital shortly after the 1997 IMF crisis. However, this market is short-lived, as the bad debt has started to increase after the global financial crisis in 2009 due to the real economic recession. NPL has become a major investment in the market in recent years when the domestic capital market's investment capital began to enter the NPL market in earnest. Although the domestic NPL market has received considerable attention due to the overheating of the NPL market in recent years, research on the NPL market has been abrupt since the history of capital market investment in the domestic NPL market is short. In addition, decision-making through more scientific and systematic analysis is required due to the decline in profitability and the price fluctuation due to the fluctuation of the real estate business. In this study, we propose a prediction model that can determine the achievement of the benchmark yield by using the NPL market related data in accordance with the market demand. In order to build the model, we used Korean NPL data from December 2013 to December 2017 for about 4 years. The total number of things data was 2291. As independent variables, only the variables related to the dependent variable were selected for the 11 variables that indicate the characteristics of the real estate. In order to select the variables, one to one t-test and logistic regression stepwise and decision tree were performed. Seven independent variables (purchase year, SPC (Special Purpose Company), municipality, appraisal value, purchase cost, OPB (Outstanding Principle Balance), HP (Holding Period)). The dependent variable is a bivariate variable that indicates whether the benchmark rate is reached. This is because the accuracy of the model predicting the binomial variables is higher than the model predicting the continuous variables, and the accuracy of these models is directly related to the effectiveness of the model. In addition, in the case of a special purpose company, whether or not to purchase the property is the main concern. Therefore, whether or not to achieve a certain level of return is enough to make a decision. For the dependent variable, we constructed and compared the predictive model by calculating the dependent variable by adjusting the numerical value to ascertain whether 12%, which is the standard rate of return used in the industry, is a meaningful reference value. As a result, it was found that the hit ratio average of the predictive model constructed using the dependent variable calculated by the 12% standard rate of return was the best at 64.60%. In order to propose an optimal prediction model based on the determined dependent variables and 7 independent variables, we construct a prediction model by applying the five methodologies of discriminant analysis, logistic regression analysis, decision tree, artificial neural network, and genetic algorithm linear model we tried to compare them. To do this, 10 sets of training data and testing data were extracted using 10 fold validation method. After building the model using this data, the hit ratio of each set was averaged and the performance was compared. As a result, the hit ratio average of prediction models constructed by using discriminant analysis, logistic regression model, decision tree, artificial neural network, and genetic algorithm linear model were 64.40%, 65.12%, 63.54%, 67.40%, and 60.51%, respectively. It was confirmed that the model using the artificial neural network is the best. Through this study, it is proved that it is effective to utilize 7 independent variables and artificial neural network prediction model in the future NPL market. The proposed model predicts that the 12% return of new things will be achieved beforehand, which will help the special purpose companies make investment decisions. Furthermore, we anticipate that the NPL market will be liquidated as the transaction proceeds at an appropriate price.

Inheritance of Resistance to Phytophthora capsici by Inoculums in Korean Hot Pepper (고추 역병균의 접종원에 따른 역병 저항성의 유전 양식)

  • Soh, Jaewoo;Han, Kyung-Sook;Lee, Sung-Chan;Lee, Jung-Sup
    • Research in Plant Disease
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    • v.18 no.4
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    • pp.317-323
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    • 2012
  • The study aims to identify the pathogenicity of Phytophthora. capsici isolates in major pepper-producing areas in Korea and the inherit genetic pattern of phytophthora blight resistance by inocula. With five kinds of testing materials including 'Kataguma (Sakata Korea)' peppers, a disease-susceptible material, '#308', a phytophthora blight resistance material, 'CM334', and their $F_1$ and $F_2$, respective isolates of P. capsici obtained from Icheon, Eumseong, Buan, Imsil and Yeongyang regions together with six kinds of peppers' inoculum including PA-159 (KACC No.40482) received from Korean Agricultural Culture Collection were used for inoculation. The disease-susceptible material '#308', the resistant material 'CM334' and the non-segregating generation of $F_1$ represented 4.94-5.00, 1.00-1.07, and 1.01-1.08 phytophthora blight incidence respectively in the group comparison by isolate. This result means that the phytophthora blight resistance was clearly distinguished among testing materials in the group comparison by P. capsici isolate. Moreover, $F_2$ segregating generation showed 1.79-2.31 phytophthora blight incidence which turned out to be identical in the group comparison by the six isolates of P. capsici isolate and with similarity between both the resistant and susceptible materials. Thus, the result proved that using the six isolates of P. capsici tested as inocula was suitable to investigate the phytophthora blight resistance. When it comes to group comparison of $F_2$ segregation generation, however, isolates were divided with PA-159 isolate being the center: a group consisting of isolates from Icheon, Buan, and Imsil and a group consisting of Yeongyang and Eumseong isolates with higher pathogenicity. The expected segregation ratio of the phytophthora blight resistance in $F_2$ generation by isolate was analyzed. PA-159 isolate showed 3:1 or 9:3:3:1, indicating that one to two genes were involved. On the other hand, results also proved that there is an interaction of genes since both Eumseong and Yeongyang isolates showed a segregation ratio of 11:5 while the Icheon isolate represented 12:3:1.