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검색결과 259건 처리시간 0.024초

한국인 폐암환자와 대조군의 CYP2D6 유전적 다형성에 관한 연구 (PCR and RFLP-based CYP2D6(B) and CYP2D6(T) Genotyping for Korean Lung Cancer Cases and Controls)

  • 전진호;이창희;엄상화;손병철;박준한;정귀옥;손창학;윤혜경;손춘희;김형인;정진숙
    • Journal of Preventive Medicine and Public Health
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    • 제31권1호
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    • pp.1-14
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    • 1998
  • The genetically determined CYP2D6 activity as considered to be associated with cancer susceptibility with inter-individual variation. Genetic polymorphism of CYP2D6(B) and CYP2D6(T) was determined by the two polymerase chain reaction(PCR) and BstN1 and EcoN1 restriction fragment length polymorphisms(RFLP) for 67 lung cancer cases and 95 healthy volunteer controls. The cases were composed of 26 squamous cell carcinoma, 14 small cell carcinoma, 10 adenocarcinoma, 3 large cell undifferentiated carcinoma, and 14 not histologically diagnosed. The results were gained from the 142 subjects (57 cases and 85 controls) who observed successfully in two PCR and BstNl/EcoN1 RELP. Only one and no mutant allele of the CYP2D6(B) and CYP2D6(T) gene was detected, that is, the frequency of mutant allele was very low; 0.7%(1/142) and 0%(0/142), respectively. Detected mutant allele of the CYP2D6(B) was beterozygous type(WM). The odds ratios for lung cancer susceptibility with CYP2D6(B) and CYP2D6(T) genotype were not calculated. These results are similar to the previous understanding that the mutant allele is very rare in Orientals compared to Caucasians, therefore, it considered that CYP2D6(B) and CYP2D6(T) genotypes have maybe no association with lung cancer susceptibility in Koreans. This is the basic data of CYP2D6(B) and CYP2D6(T) genotypes for Koreans. It would be hepful for further study to determine lung cancer susceptibility of Koreans with the data about CYP1A1, CYP2E1, GSTM1 from future study.

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한국인 다낭성 난포증후군 환자에서 5,10-Methylenetetrahydrofolate Reductase의 677번 유전자 다형성에 관한 연구 (The Study of 5,10-Methylenetetrahydrofolate Reductase Variation (MTHFR C677T) in Infertile Females with Polycystic Ovarian Syndrome (PCOS) in Korea)

  • 이교원;정유미;이숙환;윤태기;곽인평;윤선웅;최중섭;김계현;한종설;김성도;김남근;차광렬;백광현;이수만
    • Clinical and Experimental Reproductive Medicine
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    • 제30권3호
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    • pp.217-222
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    • 2003
  • Objective: To investigate the association of genetic background between MTHFR C677T genotype and infertile females with polycystic ovarian syndrome. Materials and Methods: We compared 86 infertile females with polycystic ovarian syndrome (PCOS) with 100 healthy fertile females with one or more offspring. Pyrosequencing analysis for MTHFR C677T variation was performed on polymerase chain reaction (PCR) product of study group. To validate pyrosequencing data of C677T variation for randomly selected 50 samples, we compared the pyrosequencing result with the PCR-RFLP (Restriction Fragment Length Polymorphism) result of MTHFR C677T genotype. Results: The prevalence of the C677T mutant homozygous (TT) was significantly lower (p=0.0085) in females with PCOS (8.14%) than in fertile females (21.00%). MTHFR 677 TT genotype had a decreased risk (3.7-fold) of PCOS compared with wild type (MTHFR 677 CC). Conclusion: Our data support a role for MTHFR mutant homozygous (677 TT) genotype in reducing risk in Korean infertile females with Polycystic ovarian syndrome.

한국인 남성 불임 환자에서 5,10-Methylenetetrahydrofolate Reductase (MTHFR) 유전자의 1298번의 다형성과의 관련성에 관한 연구 (Genetic analysis for Polymorphism of 5,10-Methylenetetrahydrofolate Reductase (MTHFR) A1298C and Infertile Males in Korea)

  • 정유미;정태규;김현주;이숙환;박정훈;김남근;김세현;차광렬;이수만
    • Clinical and Experimental Reproductive Medicine
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    • 제30권4호
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    • pp.325-331
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    • 2003
  • Objective: To investigate the association of genetic background between MTHFR A1298C genotype and male infertility. Materials and Methods: We compared 377 infertile males with 396 healthy fertile males with one or more offspring. Infertile males were classified into four subtypes (281 azoospermia, 26 oligoasthenoteratozoospermia (OAT), 59 severe OAT and 11 remnants) by World Health Organization (WHO). Pyrosequencing analysis for MTHFR (methylenetetrahydrofolatereductase) A1298C variation was performed on polymerase chain reaction (PCR) product of study group. To validate pyrosequencing data of A1298C variation for randomly selected 50 samples, we compared the pyrosequencing result with the PCR-RFLP (Restriction Fragment Length Polymorphism) result of MTHFR A1298C genotype. Results: We studied MTHFR A1298C variation by pyrosequencing. A1298C variation data (1298 AC; p=0.2166 and 1298 CC; p=0.5056) of MTHFR gene was no significant difference in between fertile and infertile males. Conclusion: The genetic analysis in MTHFR gene didn't appear genetic difference in Korean fertile and infertile males. We require further study for MTHFR gene in infertile males.

소음성 난청에서의 Mitochondrial DNA A3243G, A1555G, A7445G 돌연변이 (Mitochondrial DNA Mutation (3243A→G,1555A→4G,7445A→G) in Noise-Induced)

  • 홍영습;;이명진;곽기영;황찬호;신동훈;곽종영;이용환;김종민;김준연
    • 생명과학회지
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    • 제14권6호
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    • pp.913-919
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    • 2004
  • 본 연구는 소음성 감각신경성난청 환자의 유전적 관련요인을 파악하고자 관련성이 의심되는 mitochondrial DNA의 돌연변이와 소음성 감각신경성난청과의 관련성을 조사하였다. 말초혈액 백혈구로부터 DNA를 추출한 후, mtDNA 3243, 1555, 7445부위의 $A{\rightarrow}G$ 돌연변이 유무를 관찰하기 위하여 mtDNA 3243, 1555, 7445부위 가 포함된 mtDNA fragment를 중합효소 연쇄반응으로 증폭하고 유전자 제한효소로 소화하여 전기영동하고 ethidium bromide 용액으로 염색하여 UV transilluminator에서 관찰하였다. 그리고, PCR 산물을 이용하여 DNA 염기서열을 분석하여 mtDNA 3243, 1555, 7445부 위에서의 염기서열 분석을 실시하여 mtDNA 3243, 1555, 7445부위 의 $A{\rightarrow}G$ 돌연변이를 관찰하였다 MtDNA A3243G, A1555G, A7445G의 돌연변이를 관찰한 결과 돌연변이 부위가 포함된 fragment가 소음성 감각신경성난청 환자군, 감각신경성난청 환자군, 대조군 모두에서 증폭됨을 관찰하였다. 또한 PCR 산물을 제한효소로 처 리 한 결과에서도 mtDNA에서 3243, 1555, 7445부위의 $A{\rightarrow}G$ 돌연변이가 일어나지 않았음을 알 수 있었다. PCR산물을 이용하여 DNA 염기서열을 분석하여 mtDNA 3243, 1555, 7445부위에서의 염기서열을 확인한 결과 이미 밝혀진 사람의 mtDNA 3243, 1555, 7445부 위의 염기서열과 동일한 염기서열임이 확인되었으므로 mtDNA 3243, 1555, 7445부위의 $A{\rightarrow}G$ 돌연변이가 일어나지 않았음을 확인하였다. 소음성 감각신경성난청과 mtDNA 3243, 1555, 7445부위의 $A{\rightarrow}G$ 돌연변이와는 관련이 없는 것으로 관찰되었다.

Genetic Variation and Polymorphism in Rainbow Trout, Oncorhynchus mykiss Analysed by Amplified Fragment Length Polymorphism

  • Yoon, Jong-Man;Yoo, Jae-Young;Park, Jae-Il
    • 한국양식학회지
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    • 제17권1호
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    • pp.69-80
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    • 2004
  • The objective of the present study was to analyze genetic distances, variation and characteristics of individuals in rainbow trout, Oncorhynchus mykis using amplified fragment length polymorphism (AFLP) method as molecular genetic technique, to detect AFLP band patterns as genetic markers, and to compare the efficiency of agarosegel electrophoresis (AGE) and polyacrylamide gel electrophoresis (PAGE), respectively. Using 9 primer combinations, a total of 141 AFLP bands were produced, 108 bands (82.4%) of which were polymorphic in AGE. In PAGE, a total of 288 bands were detected, and 220 bands (76.4%) were polymorphic. The AFLP fingerprints of AGE were different from those of PAGE. Separation of the fragments with low molecular weight and genetic polymorphisms revealed a distinct pattern in the two gel systems. In the present study, the average bandsharing values of the individuals between two populations apart from the geographic sites in Kangwon-do ranged from 0.084 to 0.738 of AGE and PAGE. The bandsharing values between individuals No.9 and No. 10 showed the highest level within population, whereas the bandsharing values between individuals No.5 and No.7 showed the lowest level. As calculated by bandsharing analysis, an average of genetic difference (mean$\pm$SD) of individuals was approximately 0.590$\pm$0.125 in this population. In AGE, the single linkage dendrogram resulted from two primers (M11+H11 and M13+H11), indicating six genetic groupings composed of group 1 (No.9 and 10), group 2 (No. 1, 4, 5, 7, 10, 11, 16 and 17), group 3 (No. 2, 3, 6, 8, 12, 15 and 16), group 4 (No.9, 14 and 17), group 5 (No. 13, 19, 20 and 21) and group 6 (No. 23). In AGE, the genetic distances among individuals of between-population ranged from 0.108 to 0.392. In AGE, the shortest genetic distance (0.108) displaying significant molecular differences was between individuals No.9 and No. 10. Especially, the genetic distance between individuals No. 23 and the remnants among individuals within population was highest (0.392). Additionally, in the cluster analysis using the PAGE data, the single linkage dendrogram resulted from two primers (M12+H13 and M11+H13), indicating seven genetic groupings composed of group 1 (No. 15), group 2 (No. 14), group 3 (No. 11 and 12), group 4 (No.5, 6, 7, 8, 10 and 13), group 5 (No.1, 2, 3 and 4), group 6 (No.9) and group 7 (No. 16). By comparison with the individuals in PAGE, genetic distance between No. 10 and No. 7 showed the shortest value (0.071), also between No. 16 and No. 14 showed the highest value (0.242). As with the PAGE analysis, genetic differences were certainly apparent with 13 of 16 individuals showing greater than 80% AFLP-based similarity to their closest neighbor. The three individuals (No. 14, No. 15 and No. 16) of rainbow trout between two populations apart from the geographic sites in Kangwon-do formed distinct genetic distances as compared with other individuals. These results indicated that AFLP markers of this fish could be used as genetic information such as species identification, genetic relationship or analysis of genome structure, and selection aids for genetic improvement of economically important traits in fish species.

Single Stranded Conformation Polymorphism 분석에 의한 돼지 Duroc 품종의 미토콘드리아 DNA 유전적 변이 (Genetic Variation of Mitochondrial DNA in Duroc (Sus Scrofa) Using Single Stranded Conformation Polymorphism Analysis)

  • 조인철;정용환;정진관;성필남;김병우;이정규;전진태
    • Journal of Animal Science and Technology
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    • 제45권6호
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    • pp.911-916
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    • 2003
  • 돼지 Duroc 품종의 mitochondria DNA D-loop전체 유전자를 증폭하기 위하여 많은 동물에서 고도로 상동성이 높은 tRNA-Pro와 tRNA-Phe 염기서열 일부를 이용하여 oligonucleotide primer를 제작하였다. 그 결과 Duroc 품종의 D-loop 전체 유전자는 1,145 base pairs 였으며, 그 중간위치에 10bp의 Sus Scrofa-specific sequence (TACACGTGCG)가 10개 존재하고 있었다. 돌연변이 검출을 위하여 가장 변이가 심한 지역을 primer 제작하여 345 bp의 DNA 단편을 증폭하였으며, Single Stranded Conformation Polymorphism(SSCP) 분석은 8% polyacrylamide gel에서 200 V, 16시간 전기영동하여 ethidium bromide (EtBr)로 10분간 염색하여 UV image analyzer로 관찰하였다. 그 결과 두 개의 서로 다른 밴드유형을 관찰하였으며, 21개 부위에서 염기서열 변이가 관찰되었다. 이러한 결과는 유전적 다양성 변이를 검출하는데 SSCP 분석이 유용한 도구라고 사료된다.

Effect of Dietary Phytase Transgenic Corn on Physiological Characteristics and the Fate of Recombinant Plant DNA in Laying Hens

  • Gao, Chunqi;Ma, Qiugang;Zhao, Lihong;Zhang, Jianyun;Ji, Cheng
    • Asian-Australasian Journal of Animal Sciences
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    • 제27권1호
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    • pp.77-82
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    • 2014
  • The study aimed to evaluate the potential effects of feeding with phytase transgenic corn (PTC) on organ weight, serum biochemical parameters and nutrient digestibility, and to determine the fate of the transgenic DNA in laying hens. A total of 144 50-week-old laying hens were grouped randomly into 2 treatments, with 8 replicates per treatment and 9 hens per replicate. Each treatment group of hens was fed with diets containing 62.4% non-transgenic conventional corn (CC) or PTC for 16 weeks. The phytase activity for CC was 37 FTU/kg of DM, whereas the phytase activity for PTC was 8,980 FTU/kg of DM. We observed that feeding PTC to laying hens had no adverse effect on organ weight or serum biochemical parameters (p>0.05). A fragment of a poultry-specific ovalbumin gene (ov) was amplified from all tissues of hens showing that the DNA preparations were amenable to PCR amplification. Neither the corn-specific invertase gene (ivr) nor the transgenic phyA2 gene was detected in the breast muscle, leg muscle, ovary, oviduct and eggs. The digestibility data revealed no significant differences between the hens that received the CC- and PTC-based diets in the digestibility of DM, energy, nitrogen and calcium (p>0.05). Phosphorus digestibility of hens fed the PTC-based diet was greater than that of hens fed the CC-based diet (58.03% vs 47.42%, p<0.01). Based on these results, it was concluded that the PTC had no deleterious effects on the organ weight or serum biochemical parameters of the laying hens. No recombinant phyA2 gene was detected in muscle tissues and reproductive organs of laying hens. The novel plant phytase was efficacious in improving the phosphorus digestibility of laying hens.

MS-전자코를 이용한 유채유의 진위 여부 판별 (Authentication of Rapeseed Oil Using an Electronic Nose Based on Mass Spectrometry)

  • 홍은정;손희진;최진영;노봉수
    • 한국식품과학회지
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    • 제43권1호
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    • pp.105-109
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    • 2011
  • 본 연구는 유채유에 타기름이 혼합되었을 때 그 혼합 비율에 따른 차이를 전자코로 분석하였다. 대두유와 옥수수유를 0, 3, 6, 9, 12, 15, 20%를 유채유에 각각 혼입하여 전자코로 분석한 결과 DF1의 영향을 주로 받아 혼합 비율이 증가함에 따라 DF1이 음의방향으로 일정한 경향을 보이며 이동하여 나타났다. 이를 혼합비율에 따른 DF1값을 막대그래프로 나타낸 결과 혼합비율이 증가함에 따라 DF1값이 감소하여 뚜렷한 차이를 보였다. 유채유에 대두유를 혼합할 경우 DF1= $-0.170{\times}conc.$(대두유 혼합비율)+0.431 ($r^2=0.989$)과 같은 상관관계식을 얻어 유채유에 타 기름이 혼합될 경우 그 함량의 예측이 가능하였다. 이러한 결과를 통해 전자코를 이용하여 유채유의 위조판별이 가능함을 확인하였으며 다른유지를 비롯한 다양한 식품에 적용 가능할 것이다.

발파암 계수의 3차원 공간 분포에 기초한 암석 파쇄도 예측 및 발파 패턴 설계 (Prediction of Rock Fragmentation and Design of Blasting Pattern based on 3-D Spatial Distribution of Rock Factor)

  • 심현진;서종석;류동우
    • 터널과지하공간
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    • 제15권4호
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    • pp.264-274
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    • 2005
  • 대규모 채석을 위한 최적 발파 패턴은 파쇄 입도의 분포에 따라 추산된 최소 발파 비용에 기초하여 결정될 수 있다. 따라서 파쇄 입도의 분포를 예측하는 문제는 매우 중요하다. 파쇄 입도 분포의 예측에 사용된 모델은 현장 시험발파로부터 얻은 발파석에 대한 입도 분포와 비교 검토하여 선택하였다. 그 결과 Kuz-Ram 모델을 파쇄 입도 모델로 선정하였으며, 이 모델은 현지 암반의 상태를 고려할수 있는 발파암 계수라는 지배적 인자를 사용한다. 전체 생산 비용 산정을 위해 발파암 계수의 3차원 공간 분포의 추정은 매우 중요한 문제라 할 수 있다. 따라서 본 연구에서는 대규모 발파 예정 대상 구역 전체의 발파암 계수에 대한 3차원 공간 분포를 추정하기 위해 순차적 지시 시뮬레이션을 적용하였다. 순차적 지시 시뮬레이션은 조건부 시뮬레이션의 한 종류로서, 크리깅 기법에 비해 높은 변동도 모델 재현성과 취득된 조사 자료의 분포 모델에 관한 정보를 활용함으로써 추정치에 대한 불확실성을 보다 줄일 수 있는 장점을 가진다. 발파암 계수의 3차원 분포로부터 대상 구역 전체의 발파암 TYPE을 분류할 수 있었으며, 각 TYPE별 최적 발파 패턴을 설계할 수 있었다. 또한, 지반고별 발파암 계수의 분포에 대한 정량적 정보를 제공함으로써 각 공정단계별 비용을 추산하여 공정계획을 세우는데 도움이 될 수 있다.

Association of Leptin Receptor Lys109Arg and Gln223Arg Polymorphisms with Increased Risk of Clear Cell Renal Cell Carcinoma

  • Mu, Hui-Jun;Zou, Jian;Xie, Ping;Xu, Zhuo-Qun;Ruan, Jun;Yang, Shu-Dong;Yin, Ying
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권10호
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    • pp.4211-4215
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    • 2014
  • Background: Although roles of genetic polymorphisms of leptin receptor (LEPR) gene in several cancers have been documented, the association between polymorphisms of LEPR and clear cell renal cell carcinoma (CC-RCC) remains unknown. The aim of this study was to explore any relation. Materials and Methods: The study population consisted of 77 patients with CC-RCC and 161 healthy control subjects. Polymorphism analyses of Lys109Arg and Gln223Arg were performed by direct DNA sequencing and PCR-restriction fragment length polymorphism approaches respectively. Results: Comparisons of allelic and genotypic frequencies in Lys109Arg and Gln223Arg showed no significant difference between the cases and controls. However, when evaluating the combined genotype of Lys109Arg and Gln223Arg, risk with GG/GG was increased (OR=1.85, 95%CI=1.04-3.30) and with GA/GG or GG/GA was decreased (OR=0.07, 95%CI=0.01-0.54; OR and 95%CI of the latter could not be calculated for a value of zero). Furthermore, the G-G haplotype frequency of Lys109Arg and Gln223Arg in the cases was higher (OR=1.68; 95%CI=1.02-2.76). In contrast, the A-G and G-A haplotype frequencies in the cases were lower than those in the controls (OR=0.06; 95%CI=0.01 to 0.47; OR and 95%CI of the latter could not be calculated for a value of zero). In addition, the Lys109Arg A allele was in LD with the Gln223Arg A allele (d'=0.9399) in the CC-RCC subjects, but not in the controls. Conclusions: Our data suggest that the GG/GG combined genotype and G-G haplotype of Lys109Arg and Gln223Arg can act as evaluating factors for CC-RCC risk.