• Title/Summary/Keyword: genetic

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The Relation between Microsatellite Instability and the Thymidylate Synthase Expression in Gastric Cancer (위암에서 Microsatellite Instability와 Thymidylate Synthase의 상관관계)

  • Ko, Hyun-Seok;Ahn, Chang-Wook;Kang, Hae-Youn;Kim, Kwang-Il;Hong, Sung-Pyo;Ahn, Dae-Ho
    • Journal of Gastric Cancer
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    • v.8 no.4
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    • pp.169-175
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    • 2008
  • Purpose: The main target of 5-fluorouracil (5-FU) is thymidylate synthase (TS). A high TS expression has been identified as promoting resistance to 5-FU. For colorectal cancers, the response to 5-FU based adjuvant chemotherapy is different according to the microsatellite instability (MSI) status. The reports on the relationship between MSI and the TS expression in colorectal cancer have been inconsistent. No data is available for gastric cancer regarding the relationship between MSI and the TS expression. Therefore, we studied the relationship between MSI and the TS expression in gastric cancer. Materials and Methods: Ninety-nine consecutive patients who underwent radical gastrectomy for gastric cancer from January 2004 to May 2006 at Bundang CHA hospital were studied. MSI was assessed for five markers (BAT25, BAT26, D2S123, D5S346, and D17S250) by PCR and with using an ABI prism 3100 Genetic analyzer. The TS expression was analyzed by immunohistochemistry with using mouse anti-thymidylate synthase monoclonal antibody to the TS 106 clone. Results: Out of the ninety-nine patients, MSS/MSI-L was detected in 92 (92.1%) cases and 7 cases (7.1%) were MSI-H. A negative TS expression was found in 46 (46.5%) cases, a low TS expression was found in 33 (33.3%) and a high TS expression was found in 20 (20.2%). Out of 92 MSS/MSI-L patients, the number of patients with negative, low and high TS expressions were 46 (50%), 30 (32.6%) and 16 (17.4%), respectively. Out of the 7 MSI-H patients, the number of patients with negative, low and high TS expressions were 0 (0%), 3 (42.9%) and 4 (57.1%), respectively. The relationship between MSI-H and a high TS expression was statistically significant. Conclusion: Gastric cancer with MSI-H showed higher levels of a TS expression compared to the gastric cancer with MSS/MSI-L.

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Validation of QF-PCR for Rapid Prenatal Diagnosis of Common Chromosomal Aneuploidies in Korea

  • Han, Sung-Hee;Ryu, Jae-Song;An, Jeong-Wook;Park, Ok-Kyoung;Yoon, Hye-Ryoung;Yang, Young-Ho;Lee, Kyoung-Ryul
    • Journal of Genetic Medicine
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    • v.7 no.1
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    • pp.59-66
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    • 2010
  • Purpose: Quantitative fluorescent polymerase chain reaction (QF-PCR) allows for the rapid prenatal diagnosis of common aneuploidies. The main advantages of this assay are its low cost, speed, and automation, allowing for large-scale application. However, despite these advantages, it is not a routine method for prenatal aneuploidy screening in Korea. Our objective in the present study was to validate the performance of QF-PCR using short tandem repeat (STR) markers in a Korean population as a means for rapid prenatal diagnosis. Material and Methods: A QF-PCR assay using an Elucigene kit (Gen-Probe, Abingdon, UK), containing 20 STR markers located on chromosomes 13, 18, 21, X and Y, was performed on 847 amniotic fluid (AF) samples for prenatal aneuploidy screening referred for prenatal aneuploidy screening from 2007 to 2009. The results were then compared to those obtained using conventional cytogenetic analysis. To evaluate the informativity of STR markers, the heterozygosity index of each marker was determined in all the samples. Results: Three autosomes (13, 18, and 21) and X and Y chromosome aneuploidies were detected in 19 cases (2.2%, 19/847) after QF-PCR analysis of the 847 AF samples. Their results are identical to those of conventional cytogenetic analysis, with 100% positive predictive value. However, after cytogenetic analysis, 7 cases (0.8%, 7/847) were found to have 5 balanced and 2 unbalanced chromosomal abnormalities that were not detected by QF-PCR. The STR markers had a slightly low heterozygosity index (average: 0.76) compared to those reported in Caucasians (average: 0.80). Submicroscopic duplication of D13S634 marker, which might be a unique finding in Koreans, was detected in 1.4% (12/847) of the samples in the present study. Conclusion: A QF-PCR assay for prenatal aneuploidy screening was validated in our institution and proved to be efficient and reliable. However, we suggest that each laboratory must perform an independent validation test for each STR marker in order to develop interpretation guidelines of the results and must integrate QF-PCR into the routine cytogenetic laboratory workflow.

Effective Method for Extraction of Cell-Free DNA from Maternal Plasma for Non-Invasive First-Trimester Fetal Gender Determination: A Preliminary Study

  • Lim, Ji-Hyae;Park, So-Yeon;Kim, Shin-Young;Kim, Do-Jin;Kim, Mee-Jin;Yang, Jae-Hyug;Kim, Moon-Young;Kim, Min-Hyoung;Han, Ho-Won;Choi, Kyu-Hong;Ryu, Hyun-Mee
    • Journal of Genetic Medicine
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    • v.7 no.1
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    • pp.53-58
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    • 2010
  • Purpose: To find the most effective method for extraction of cell-free DNA (cf-DNA) from maternal plasma, we compared a blood DNA extraction system (blood kit) and a viral DNA extraction system (viral kit) for non-invasive first-trimester fetal gender determination. Materials and Methods: A prospective cohort study was conducted with maternal plasma collected from 44 women in the first-trimester of pregnancy. The cf-DNA was extracted from maternal plasma using a blood kit and a viral kit. Quantitative fluorescent-polymerase chain reaction (QF-PCR) was used to detect the SRY gene and AMEL gene. The diagnostic accuracy of the QF-PCR results was determined based on comparison with the final delivery records. Results: A total of 44 women were tested, but the final delivery record was only obtained in 36 cases which included 16 male-bearing and 20 female-bearing pregnancies. For the blood kit and viral kit, the diagnostic accuracies for fetal gender determination were 63.9% (23/36) and 97.2% (35/36), respectively. Conclusion: In non-invasive first-trimester fetal gender determination by QF-PCR, using a viral kit for extraction of cf-DNA may result in a higher diagnostic accuracy.

Rarely Observed Jumping Translocation in Spontaneous Abortion (자연 유산에서 드물게 관찰된 Jumping translocation 2례)

  • Lee, Yeon-Woo;Lee, Bom-Yi;Park, Ju-Yeon;Choi, Eun-Young;Oh, Ah-Rum;Lee, Shin-Young;Ryu, Hyun-Mee;Kang, Inn-Soo;Yang, Kwang-Moon;Park, So-Yeon
    • Journal of Genetic Medicine
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    • v.7 no.1
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    • pp.82-86
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    • 2010
  • Jumping translocations (JT) are chromosomal rearrangements involving one donor chromosome and several recipient chromosomes. While JTs are frequently observed as acquired chromosomal abnormalities in hematologic malignancies, constitutional JTs are only rarely reported. We report two cases of constitutional JT in chorionic villi derived from the products of conception. The karyotype of the first case was 46,XY,add(18)(p11.1)[61]/45,XY,der(18;21)(q10;q10)[32]/46,XY,-18,+mar[16]/46,XY,i(18)(q10)[9]/45,XY,der(15;18)(q10;q10)[6]/46,XY,+1,dic(1;18)(p22;p11.1)[2]/45,XY,der(13;18)(q10;q10)[1]/46,XY[32]. The donor was a chromosome 18. The recipient chromosomes were chromosomes 1, 13, 15, 18 and 21. In the second case, the karyotype was 46,XY,der(22)t(9;22)(q12;q13)[22]/46,XY,der(22)t(1;22)(q21;q13)[13]/46,XY,add(22)(q13)[5]/46 XY[23]. The donor was a chromosome 22 and recipients were chromosomes 1 and 9. Both cases were de novo. The breakpoints of chromosomes were mostly in centromeric regions, pericentromeric regions, or telomeric regions. Normal cell lines were observed in both cases. This report supports the prior findings that the unstable nature of JT, resulting in chromosomal imbalance, most likely contributed to these early miscarriages.

Dynamic forecasts of bankruptcy with Recurrent Neural Network model (RNN(Recurrent Neural Network)을 이용한 기업부도예측모형에서 회계정보의 동적 변화 연구)

  • Kwon, Hyukkun;Lee, Dongkyu;Shin, Minsoo
    • Journal of Intelligence and Information Systems
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    • v.23 no.3
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    • pp.139-153
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    • 2017
  • Corporate bankruptcy can cause great losses not only to stakeholders but also to many related sectors in society. Through the economic crises, bankruptcy have increased and bankruptcy prediction models have become more and more important. Therefore, corporate bankruptcy has been regarded as one of the major topics of research in business management. Also, many studies in the industry are in progress and important. Previous studies attempted to utilize various methodologies to improve the bankruptcy prediction accuracy and to resolve the overfitting problem, such as Multivariate Discriminant Analysis (MDA), Generalized Linear Model (GLM). These methods are based on statistics. Recently, researchers have used machine learning methodologies such as Support Vector Machine (SVM), Artificial Neural Network (ANN). Furthermore, fuzzy theory and genetic algorithms were used. Because of this change, many of bankruptcy models are developed. Also, performance has been improved. In general, the company's financial and accounting information will change over time. Likewise, the market situation also changes, so there are many difficulties in predicting bankruptcy only with information at a certain point in time. However, even though traditional research has problems that don't take into account the time effect, dynamic model has not been studied much. When we ignore the time effect, we get the biased results. So the static model may not be suitable for predicting bankruptcy. Thus, using the dynamic model, there is a possibility that bankruptcy prediction model is improved. In this paper, we propose RNN (Recurrent Neural Network) which is one of the deep learning methodologies. The RNN learns time series data and the performance is known to be good. Prior to experiment, we selected non-financial firms listed on the KOSPI, KOSDAQ and KONEX markets from 2010 to 2016 for the estimation of the bankruptcy prediction model and the comparison of forecasting performance. In order to prevent a mistake of predicting bankruptcy by using the financial information already reflected in the deterioration of the financial condition of the company, the financial information was collected with a lag of two years, and the default period was defined from January to December of the year. Then we defined the bankruptcy. The bankruptcy we defined is the abolition of the listing due to sluggish earnings. We confirmed abolition of the list at KIND that is corporate stock information website. Then we selected variables at previous papers. The first set of variables are Z-score variables. These variables have become traditional variables in predicting bankruptcy. The second set of variables are dynamic variable set. Finally we selected 240 normal companies and 226 bankrupt companies at the first variable set. Likewise, we selected 229 normal companies and 226 bankrupt companies at the second variable set. We created a model that reflects dynamic changes in time-series financial data and by comparing the suggested model with the analysis of existing bankruptcy predictive models, we found that the suggested model could help to improve the accuracy of bankruptcy predictions. We used financial data in KIS Value (Financial database) and selected Multivariate Discriminant Analysis (MDA), Generalized Linear Model called logistic regression (GLM), Support Vector Machine (SVM), Artificial Neural Network (ANN) model as benchmark. The result of the experiment proved that RNN's performance was better than comparative model. The accuracy of RNN was high in both sets of variables and the Area Under the Curve (AUC) value was also high. Also when we saw the hit-ratio table, the ratio of RNNs that predicted a poor company to be bankrupt was higher than that of other comparative models. However the limitation of this paper is that an overfitting problem occurs during RNN learning. But we expect to be able to solve the overfitting problem by selecting more learning data and appropriate variables. From these result, it is expected that this research will contribute to the development of a bankruptcy prediction by proposing a new dynamic model.

Possibility of Repeated Use of Elite Donor Cows for Mass Production of OPU-Derived Embryos (OPU 유래 수정란의 대량생산을 위한 고능력 공란우 반복사용 가능성에 관한 연구)

  • Jin, Jong-In;Choi, Byung-Hyun;Kim, Seong-Su;Park, Bun-Young;Lee, Jung-Gyu;Kong, Il-Keun
    • Journal of Embryo Transfer
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    • v.30 no.3
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    • pp.149-159
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    • 2015
  • This study was designed to know the possibility in repeat uses of elite donor cows for getting mass production of OPU-derived embryo production (OPU-IVP). Ultrasound transvaginal ovum pick-up (OPU) performed in 6 Korean native cows was aged 4 to 10 years old. The aspiration of immature oocytes for OPU derived embryo was carried out 2 times per week, and OPU-IVP of $1^{st}$ period was carried out 22~48 sessions from each donors. And the break time for OPU-IVP of $2^{nd}$ period after $1^{st}$ OPU from each donors were 2~25 months. The OPU-IVP of $2^{nd}$ period each donors conducted total 15~65 times for 2~8 months by an ultrasonographic, was guided follicular aspiration system. The average numbers of collected oocytes, grade 1 + grade 2(G1+G2) oocytes and cleavage embryo from $1^{st}$ period OPU-IVP were significantly differences between donors (p<0.05). Total collected oocytes of donor D were significantly higher compared with donors of A, B, C, E and F (average 17.0 per session vs. 11.2, 10.1, 8.5, 10.2 and 9.6; p<0.05) and also oocytes of G1+G2 were significantly higher compared with r A and D and subsequently to donors of B, C, E and F (average 7.9 and 8.5 per session vs. 5.0, 2.7, 6.0 and 1.6; p<0.05). Cleavage rate of donor D was significantly higher compared with donors of A, B, C, E and F (average 13.1 per session vs. 10.1, 9.1, 6.9, 8.9 and 6.7; p<0.05). The average numbers of OPU-IVP for $1^{st}$ period was significantly higher from donors of B, D and E than those from donors of A, C and F (average 6.5, 7.1 and 6.5 per session vs. 3.5, 4.2 and 2.8; p<0.05). The possibility investigation of $2^{nd}$ OPU-IVP was carried out after 2~25 months rest periods from $1^{st}$ period OPU session. Total average numbers of collected oocytes, cleavages and blastocyst development rates were significantly higher from $1^{st}$ period OPU compared with $2^{nd}$ period one (p<0.05). The OPU-IVP efficiency by break for more embryo production from elite cow was analysis comparing without rest of donor A, under 6 months rest period as B and over 6 months rest period as C and then the average numbers of collected oocytes, cleavages and blastocysts were significantly higher from A group (11.8, 9.5 and 5.2 per session) than those from B and C groups (7.9, 6.2 and 2.6 vs. 9.2, 7.5 and 3.9, p<0.05), and also C group was significantly higher than B group. In conclusion, $1^{st}$ period OPU-IVP was more efficient compared with $2^{nd}$ period repeated uses of donor, and the break times for additional production of embryo on donor were needed more than over 6 months after $1^{st}$ period OPU-IVP. This repeating uses of elite donor cows given more emphasis for getting the opportunity on mass production of elite cow OPU-IVP embryo should be increased G1+G2 possibility of genetic improvement of livestock within short period.

Comparison on Antioxidant Activity of Ethanolic Extracts of Chinese Matrimony Vine (Lycium chinensis M.) (구기자 유전자원의 에탄올 추출물의 항산화활성 비교)

  • An, Tae-Hwan;Lee, Suk-Young;Cho, Jin-Woong
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.57 no.1
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    • pp.22-28
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    • 2012
  • This experiment was conducted to find out high antioxidant activity varieties of chinese matrimony from the 131 accessions which conserved at Cheongyang Gugija Experiment Station. The status of the 131 accessions were composed 21 of local varieties, 20 of introduced species and 90 of improved races. The anti-oxidant activity using DPPH and $IC_{50}$, 45 accessions out of 90 showed high activity in free radical scavenging ability as less than $200{\mu}g/m{\ell}$ in improved races, while nine and six accessions from the introduced species and local varieties, respectively. At the stem part, the highest three anti-oxidant varieties among 131 accessions are "C0148-94", "D0148-72" and "Cheongdae", while China collection 1 in leaf part. Since "Cheongdae" is the progeny from the "Cheongyang Jaerae 5" and "Myungan" and those two varieties, "C0148-94" and "D0148-72" are from the Myungan and Cheongdae, high anti-oxidant activity can be inherited in Chinese matrimony vine.

Agronomic Characteristics of Common Millet Germplasm (기장 유전자원의 농업적 특성)

  • Yoon, Seong-Tak;Xu, Zhen Yu;Kim, Seong-Min;Kim, Chang-Yung
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.53 no.4
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    • pp.394-400
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    • 2008
  • Crop characteristics of 137 common millet (Panicum miliaceum L.) resources collected in Korea were investigated in order to establish basic data for the improvement of crop breeding. Spike types of 137 plant resources were classified as 4 types of oblate, spreading, oblate-compact (intermediary type between oblate and compact) and oblate-spreading (intermediary type between oblate and compact) type, of which oblate spike type was the highest percentage of 66.4% (91 plant resources) of 137 germplasm. Seed color was classified as 5 colors of dark brown, yellow, brown, yellowish brown, and yellowish white, of which yellowish white was the highest percentage of 66.4% (54 plant resources) among them. Seed type was classified as 2 types of pyramid shape and short pyramid shape, which showed 62.8% and 37.2% respectively. Days from seeding to heading date showed the range from 68 to 85 days with 73.7 days in the average and the highest frequency proportion of it was the group from 70 to 75 days, which occupied 46.7% (64 plant resources) of 137 germplasm. Days from seeding to physiological maturity showed the range from 109 to 124 days with 112.0 days in the average and the highest frequency proportion (60.6%) of it was the group from 111 to 115 days, while there were also occupied with 6.6% below 110 days and 5.1% over 120 days among 137 germplasm. Group from 181 cm to 190 cm of culm length showed the highest frequency proportion of 47.4%, whereas below 160 cm was the lowest occupancy of 2.9%. Spike length showed the range from 181 to 190 cm with 181.4 cm in the average and the highest frequency distribution of it was the group from 31 to 35 cm with the proportion of 54.0%. Number of grains per spike showed the range from 432 to 2,665 grains with 1,429.5 grains in the average and group from 1,200 to 1,400 grains per spike was the highest frequency distribution with the proportion of 20.4%. There were also occupied with 13.1% below 1,000 grains and 8.6% over 2,000 grains per spike among 137 germplasm.

Genotype x Environment Interaction and Stability Analysis for Potato Performance and Glycoalkaloid Content in Korea (유전형과 재배환경의 상호작용에 따른 감자 수량성과 글리코알카로이드 함량 변화)

  • Kim, Su Jeong;Sohn, Hwang Bae;Lee, Yu Young;Park, Min Woo;Chang, Dong Chil;Kwon, Oh Keun;Park, Young Eun;Hong, Su Young;Suh, Jong Taek;Nam, Jung Hwan;Jeong, Jin Cheol;Koo, Bon Cheol;Kim, Yul Ho
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.62 no.4
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    • pp.333-345
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    • 2017
  • The potato tuber is known as a rich source of essential nutrients, used throughout the world. Although potato-breeding programs share some priorities, the major objective is to increase the genetic potential for yield through breeding or to eliminate hazards that reduce yield. Glycoalkaloids, which are considered a serious hazard to human health, accumulate naturally in potatoes during growth, harvesting, transportation, and storage. Here, we used the AMMI (additive main effects and multiplicative interaction) and GGE (Genotype main effect and genotype by environment interaction) biplot model, to evaluate tuber yield stability and glycoalkaloid content in six potato cultivars across three locations during 2012/2013. The environment on tuber yield had the greatest effect and accounted for 33.0% of the total sum squares; genotypes accounted for 3.8% and $G{\times}E$ interaction accounted for 11.1% which is the nest highest contribution. Conversely, the genotype on glycoalkaloid had the greatest effect and accounted for 82.4% of the total sum squares), whereas environment and $G{\times}E$ effects on this trait accounted for only 0.4% and 3.7%, respectively. Furthermore, potato genotype 'Superior', which covers most of the cultivated area, exhibited high yield performance with stability. 'Goun', which showed lower glycoalkaloid content, was the most suitable and desirable genotype. Results showed that, while tuber yield was more affected by the environment, glycoalkaloid content was more dependent on genotype. Further, the use of the AMMI and GGE biplot model generated more interactive visuals, facilitated the identification of superior genotypes, and suggested decisions on a variety of recommendations for specific environments.

Physiological and Proteome Responses of Korean F1 maize (Zea mays L.) Hybrids to Water-deficit Stress during Tassel Initiation (옥수수 영양생장기 한발 스트레스에 의한 광합성의 생리적 반응 및 프로테옴 변화 분석)

  • Bae, Hwan Hee;Kwon, Young-Sang;Son, Beom-Young;Kim, Jung-Tae;Go, Young Sam;Kim, Sun-Lim;Baek, Seong-Bum;Shin, Seonghyu;Kim, Sang Gon
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.64 no.4
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    • pp.422-431
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    • 2019
  • Severe droughts in spring have occurred frequently in Korea in recent years, exerting a critical impact on corn yield. Therefore, it is necessary to find physiological and/or molecular indicators of the response to drought stress in maize plants. In this study, we investigated the effects of water-deficit stress on two Korean elite F1 maize hybrids, Ilmichal and Gwangpyeongok, by withholding water for 10 days at tassel initiation. The water deficit drastically reduced the relative leaf water content, leaf number, leaf area, and stem length, leading to dry matter reduction. Moreover, it reduced the SPAD values and stomatal conductance of leaves in drought-stressed plants of both hybrids. Importantly, the number of leaves and SPAD value were non-destructive and easy to investigate in response to water-deficit stress, suggesting that they may be useful indicators for screening drought-tolerant genetic resources. We detected more than 100 spots that were differentially accumulated under drought stress. Of these spots, a total of 21 protein spots (≥1.5-fold) from drought-exposed maize leaves were successfully analyzed by MALDI-TOF-TOF mass spectrometry. Functional annotation using Gene Ontology analysis revealed that most of the identified proteins were involved in carbohydrate metabolism, stress response fatty acid catabolism, photosynthesis, energy metabolism, and transport. The protein expression levels were increased in both Ilmichal and Gwangpyeongok, except for triosephosphate isomerase, fructose-bisphosphate aldolase, and an uncharacterized protein. The lactoylglutathione lyase delta (3,5)-delta (2,4)-dienoyl-CoA isomerase was overexpressed in Gwangpyeongok only. The results obtained from this study suggest that the drought-specific genes may be useful as molecular markers for screening drought-tolerant maize genotypes.