• Title/Summary/Keyword: Genetic Markers

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Expression of Estrogen and Progesterone Receptors in Non-small-cell Lung Cancer Tissue Using Tissue Microarray Method (조직 미세배열법을 이용한 비소세포 폐암 조직에서 에스트로겐과 프로게스테론 수용체 발현)

  • Han, Hye-Seung;Kim, Min-Ji;Cho, Jae-Hwa;Yoon, Yong-Han;Kwak, Seung-Min;Lee, Hong-Lyeol;Kim, Kwang-Ho;Ryu, Jeong-Seon
    • Tuberculosis and Respiratory Diseases
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    • v.58 no.1
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    • pp.54-58
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    • 2005
  • Background : To evaluate the role of estrogen and progesterone in the carcinogenesis of NSCLC, IHC studies for the expression of the receptors of estrogen and progesterone have been performed with inconsistent results. Recently the TMA method has been developed and has become recognized as a useful and rapid method for extensively analysing molecular markers at the gene and protein level. We have investigated their expressions in the tissue from NSCLC using the microarray method. Methods : The TMA construction was made with 70 formalinfixed, paraffin-embedded tissues of NSCLC. After heat-induced epitope retrieval, IHC staining on primary tissues of NSCLC was performed with the monoclonal antibodies, ER1D5 and PR1A6. Results : Our sample of 70 consisted of 74% men and 26% women. Of the patients, 49% were current smokers, 27% were non-smokers and 24% were former smokers. By histologic classification, 34 patients had squamous cell carcinoma, 24 had adenocarcinoma, 9 had adenosquamous cell carcinoma, and 3 had other carcinomas. No cancer cells were immunostained with these monoclonal antibodies in any primary tissues of NSCLC. Conclusions : No expression of neither of the two receptors was found in any of the lung cancer tissues. This suggests that adequate genetic variants for IHC staining need to be developed for NSCLC.

Noninvasive Prenatal Diagnosis using Cell-Free Fetal DNA in Maternal Plasma: Clinical Applications

  • Yang, Young-Ho;Han, Sung-Hee;Lee, Kyoung-Ryul
    • Journal of Genetic Medicine
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    • v.8 no.1
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    • pp.1-16
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    • 2011
  • Owing to the risk of fetal loss associated with prenatal diagnostic procedures (amniocentesis, chorionic villus sampling), noninvasive prenatal diagnosis (NIPD) is ultimate goal of prenatal diagnosis. The discovery of circulating cell-free fetal DNA (cffDNA) in maternal plasma in 1997 has opened up new probabilities for NIPD by Dr. Lo et al. The last decade has seen great development in NIPD. Fetal sex and fetal RhD status determination by cffDNA analysis is already in clinical use in certain countries. For routine use, this test is limited by the amount of cell-free maternal DNA in blood sample, the lack of universal fetal markers, and appropriate reference materials. To improve the accuracy of detection of fetal specific sequences in maternal plasma, internal positive controls to confirm to presence of fetal DNA should be analyzed. We have developed strategies for noninvasive determination of fetal gender, and fetal RhD genotyping using cffDNA in maternal plasma, using real-time quantitative polymerase chain reaction (RT-PCR) including RASSF1A epigenetic fetal DNA marker (gender-independent) as internal positive controls, which is to be first successful study of this kind in Korea. In our study, accurate detection of fetal gender through gestational age, and fetal RhD genotyping in RhD-negative pregnant women was achieved. In this assay, we show that the assay is sensitive, easy, fast, and reliable. These developments improve the reliability of the applications of circulating fetal DNA when used in clinical practice to manage sex-linked disorders (e.g., hemophilia, Duchenne muscular dystrophy), congenital adrenal hyperplasia (CAH), RhD incompatibility, and the other noninvasive pregnant diagnostic tests on the coming soon. The study was the first successful case in Korea using cffDNA in maternal plasma, which has created a new avenue for clinical applications of NIPD.

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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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.

Association Analysis of the 6-bp Deletion Variant of the MYH3 Gene with Meat Color Traits in Crossbred (Landrace × Jeju Native Black Pig) Pigs (제주재래흑돼지와 랜드레이스 교배 축군에서 MYH3 유전자의 6-bp 결실 변이와 육색 형질간의 연관성 분석)

  • Kang, Yong-Jun;Kim, Sang-Geum;Kim, Su-Yeon;Kim, Min-Ji;Kim, Hyeon-Ah;Shin, Moon-Cheol;Yoo, Ji-Hyun;Yang, Byoung-Chul;Cho, In-Cheol
    • Journal of Life Science
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    • v.31 no.7
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    • pp.626-630
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    • 2021
  • This study was conducted to examine the association between the myosin heavy chain 3 (MYH3) in 6-bp deletion variant genotypes and meat color traits in a crossbred pig population Landrace and Jeju native black pigs (JNBP). The longissimus dorsi, semimembranosus, triceps brachii and biceps femoris muscle from each carcass were used for the analysis of meat color traits. A total of 187 pigs and three meat color traits, CIE L* (lightness), CIE a* (redness), and CIE b* (yellowness), were analyzed. All experimental pigs were successfully genotyped for the MYH3 6-bp deletion variant using Polymerase chain reaction (PCR) analysis. We detected three MYH3 6-bp deletion variant genotypes qq, Qq, and QQ with 0.091, 0.551 and 0.358 genotype frequencies, respectively. Compared to qq homozygotes, the MYH3 6-bp deletion QQ genotype animals showed a higher levels of the meat colors traits CIE L* (lightness), CIE a* (redness), and CIE b* (yellowness) in longissimus dorsi (p>0.05, p<0.001, p<0.001), semimembranosus (p>0.05, p<0.001, p<0.001), triceps brachii (p<0.001, p<0.001, p<0.001), and biceps femoris (p<0.01, p<0.001, p<0.001), respectively. The QQ genotype pigs was associated with increasing meat color traits in the crossbred between Landrace and JNBP. Our findings suggest that the MYH3 6-bp deletion variant genotypes can be used as valuable genetic markers for JNBP-related breeding programs to improve meat quality and control meat color traits.

The identification of non-synonymous SNP in the Enoyl-CoA delta isomerase 2 (ECI2) gene and its Association with Meat Quality Traits in Berkshire pigs (버크셔 돼지 육질 형질과 Enoyl-CoA delta isomerase 2 (ECI2) 유전자 nsSNP의 연관성 분석)

  • Hwang, Jung Hye;An, Sang Mi;Park, Da Hye;Kang, Deok Gyeong;Kim, Tae Wan;Park, Hwa Chun;Ha, Jeongim;Kim, Chul Wook
    • Journal of the Korean Society of International Agriculture
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    • v.30 no.4
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    • pp.277-284
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    • 2018
  • Meat quality has always been one of the most important factors that controls the choice of pork consumers and is of great interest in the pig industry. In this study, we identified a single nucleotide polymorphism (SNP) in the enoyl-CoA delta isomerase 2 (ECI2) gene in Berkshire pigs (n = 430) by analyzed the association between the SNP and meat quality traits. The non-synonymous SNP in the ECI2 gene is located at c.608 C > G and resulted in an amino acid change from threonine to serine. Significant associations between the SNP and meat quality traits, such as redness (CIE a), and the $pH_{24hr}$, were revealed in both the dominant and co-dominant models, whereas carcass weight, drip loss, and fat content and moisture content were significantly associated only with the dominant model. In barrow, the SNP was significantly associated with CIE a, drip loss, and $pH_{24hr}$, whereas in gilt, only a significant relationship with moisture content was observed. GG genotype pigs had a higher $pH_{24hr}$ and lower drip loss. Because $pH_{24hr}$ and drip loss are considered the most important meat quality traits, GG genotype pork is high-quality meat compared to that from other genotypes. In conclusion, the SNP in the ECI2 gene is significantly associated with several meat quality traits. These traits and could be as genetic markers in molecular breeding programs for improving meat quality.

Spawning patterns of three bitterling fish species (Pisces: Acheilognathinae) in host mussels and the first report of their spawning in Asian clam(Corbicula fluminae) from Korea (납자루아과(Pisces: Acheilognathinae) 어류 3종의 숙주조개에 대한 산란양상 및 재첩(Corbicula fluminae) 내 산란 국내 최초 보고)

  • Jin Kyu Seo;Hee-kyu Choi;Hyuk Je Lee
    • Korean Journal of Environmental Biology
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    • v.41 no.3
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    • pp.229-246
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    • 2023
  • The bitterling (Cyprinidae, Acheilongnathinae) is a temperate freshwater fish with a unique spawning symbiosis with host mussels. Female bitterlings use their extended ovipositors to lay eggs on the gills of mussels through the mussel's exhalant siphon. In the present study, in April of 2020, we investigated spawning frequencies and patterns of three bitterling fish species in host mussel species in the Nakdong River basin (Hoecheon). During field surveys, a total of four bitterling and three mussel species were found. We observed bitterling's spawning eggs/larvae in the three mussel species: Anodonta arcaeformis(proportion spawned: 45.5%), Corbicula fluminea(12.1%), and Nodularia douglasiae (45.2%). The number of bitterlings' eggs/larvae per mussel ranged from 1 to 58. Using our developed genetic markers, we identified the eggs/larvae of each bitterling species in each mussel species (except for A. macropterus): A. arcaeformis (spawned by Acheilognathus yamatsutae), C. fluminea (A. yamatsutae and Tanakia latimarginata), and N. douglasiae (A. yamatsutae, Rhodeus uyekii, and T. latimarginata). Approximately 57.6% of N. douglasiae mussel individuals had eggs/larvae of more than one bitterling species, suggesting that interspecific competition for occupying spawning grounds is intense. This is the first report on bitterling's spawning events in the Asian clam C. fluminea from Korea; however, it should be ascertained whether bitterling's embryo undergoes successful development inside the small mussel and leaves as a free-swimming juvenile. In addition, the importance of its conservation as a new host mussel species for bitterling fishes needs to be studied further.

Bacterial Blight Resistance Genes Pyramided in Mid-Late Maturing Rice Cultivar 'Sinjinbaek' with High Grain Quality (벼흰잎마름병 저항성 유전자 집적 고품질 중만생 벼 '신진백')

  • Park, Hyun-Su;Kim, Ki-Young;Baek, Man-Kee;Cho, Young-Chan;Kim, Bo-Kyeong;Nam, Jeong-Kwon;Shin, Woon-Chul;Kim, Woo-Jae;Ko, Jong-Cheol;Kim, Jeong-Ju;Jeong, Jong-Min;Jeung, Ji-Ung;Lee, Keon-Mi;Park, Seul-Gi;Lee, Chang-Min;Kim, Choon-Song;Suh, Jung-Pil;Lee, Jeom-Ho
    • Korean Journal of Breeding Science
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    • v.51 no.3
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    • pp.263-276
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    • 2019
  • 'Sinjinbaek' is a bacterial blight (BB)-resistant, mid-late maturing rice cultivar with high grain quality. To diversify the resistance genes and enhance the resistance of Korean rice cultivars against BB, 'Sinjinbaek' was developed from a cross between 'Iksan493' (cultivar name 'Jinbaek') and the F1 cross between 'Hopum' and 'HR24670-9-2-1' ('HR24670'). 'Jinbaek' is a BB-resistant cultivar with two BB resistance genes, Xa3 and xa5. 'Hopum' is a high grain quality cultivar with the Xa3 resistance gene. 'HR24670' is a near-isogenic line that carries the Xa21 gene, a resistance gene inherited from a wild rice species O. longistaminata, in the genetic background of japonica elite rice line 'Suweon345'. 'Sinjinbaek' was selected through the pedigree method, yield trials, and local adaptability tests. Using bioassay for BB races and DNA markers for resistance genes, three resistance genes, Xa3, xa5, and Xa21, were pyramided in the 'Sinjinbaek' cultivar. 'Sinjinbaek' exhibited high-level and broad-spectrum resistance against BB, including the K3a race, the most virulent race in Korea. 'Sinjinbaek' is a mid-late maturing rice cultivar tolerant to lodging. It has multiple disease resistance against BB, rice blast, and stripe virus. The yield of 'Sinjinbaek' was similar to that of 'Nampyeong'. 'Sinjinbaek' showed excellent grain appearance, good taste of cooked rice, and enhanced milling performance, and we concluded that it could contribute to improving the quality of BB-resistant cultivars. 'Sinjinbaek' was successfully introgressed with the Xa21 gene without the linkage drag negatively affecting its agronomic characteristics. 'Sinjinbaek' improved the resistance of Korean rice cultivars against BB by introgression of a new resistance gene, Xa21, as well as by pyramiding three resistance genes, Xa3, xa5, and Xa21. 'Sinjinbaek' would be suitable for the cultivation in BB-prone areas since it has been used in breeding programs for enhancing plants' resistance to BB (Registration No. 7273).