• Journal of Plant Biotechnology
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• 제48권1호
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• pp.26-33
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• 2021

당귀는 일반적으로 이용되는 대표적인 다년생의 약용식물이다. 최근 국제적 추세에 따라 자국의 유전자원의 발굴, 보존 등이 강화됨에 따라 인접국가와 국내 자생 당귀 계통을 판별할 수 있는 기준설정에 관한 연구의 필요성이 대두되고 있지만, 분자생물학적 판별 기술의 개발은 아직 미흡한 실정이다. 본 연구에서는 국내 토종 당귀인 참당귀와 세발당귀, 그리고 해외 유래 당귀 종의 기원을 판별하기 위해 핵의 리보솜에 존재하는 ITS 유전자단편에서 SNP를 이용한 판별 프라이머를 확보하였으며, 이를 보완하여 보다 신속하게 판별하기 위하여 ARMS-PCR 기술을 이용한 판별 마커와 그 조건을 확립하였다. 그러므로, 본 연구에서 개발된 SNP 마커는 다양한 지역 또는 국가에서 서식하는 당귀 종들의 신속한 확인을 위해 매우 유용하게 이용될 것으로 생각된다.

• 생물정신의학
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• 제9권1호
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• pp.34-41
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• 2002

Background:Since serotonin neurotrasnmission plays an important role in the pathophysiology of depression, the drug that acts on serotonin transporter can be an effective antidepressant. The aim of this study was to investigate the relationship between serotonin transporter polymorphisms(5-HTTLPR) and the long-term effect of the antidepressant treatment. Method:The 175 depressive patients, who met DSM-IV criteria for major depressive disorder or dysthymic disorder were enrolled into three year study. The genotypes of the patients were investigated by polymerase chain reaction of genomic DNA with promoter regions of the serotonin transporter gene. The patients were assessed by the Clinical Global Impression Scale, at the 1st visit, 8th week, 16th week, 1st year, 2nd and 3rd year after the antidepressant treatment. Result:The genotypes of 138 patients were investigated and 128 of them finished this 1st year study and 107 remained in the study after 2-year treatment, and, 97 completed this 3-year study. The therapeutic response of each subset was not different at 8th, 16th week, but the subset with homozygote(l/l) of long variant showed a better antidepressant therapeutic response than heterozygote(l/s). The heterozygote(l/s) showed a better response than the subset with homozygote(s/s) of short variant at 1st, 2nd and 3rd year after the antidepressant treatment in CGI-global improvement score. Conclusion:This result shows that the serotonin transporter polymorphism may be related to the long-term effect of antidepressant treatment and there may be also ethnic difference.

• Asian Pacific Journal of Cancer Prevention
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• 제16권18호
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• pp.8093-8100
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• 2016

Background: Genetic and environmental factors play important roles in pathogenesis of digestive tract cancers like those in the esophagus, stomach and colorectum. Folate deficiency and methylenetetrahydrofolate reductase (MTHFR) as an important enzyme of folate and methionine metabolism are considered crucial for DNA synthesis and methylation. MTHFR variants may cause genomic hypomethylation, which may lead to the development of cancer, and MTHFR gene polymorphisms (especially C677T and A1298C) are known to influence predispositions for cancer development. Several case control association studies of MTHFR C677T polymorphisms and colorectal cancer (CRC) have been reported in different populations with contrasting results, possibly reflecting inadequate statistical power. Aim: The present meta-analysis was conducted to investigate the association between the C677T polymorphism and the risk of colorectal cancer. Materials and Methods: A literature search of the PubMed, Google Scholar, Springer link and Elsevier databases was carried out for potential relevant articles. Pooled odds ratio (OR) with corresponding 95 % confidence interval (95 % CI) was calculated to assess the association of MTHFR C677T with the susceptibility to CRC. Cochran's Q statistic and the inconsistency index (I2) were used to check study heterogeneity. Egger's test and funnel plots were applied to assess publication bias. All statistical analyses were conducted by with MetaAnalyst and MIX version 1.7. Results: Thirty four case-control studies involving a total of 9,143 cases and 11,357 controls were retrieved according to the inclusion criteria. Overall, no significant association was found between the MTHFR C677T polymorphism and colorectal cancer in Asian populations (for T vs. C: OR=1.03; 95% CI= 0.92-1.5; p= 0.64; for TT vs CC: OR=0.88; 95%CI= 0.74-1.04; p= 0.04; for CT vs. CC: OR = 1.02; 95%CI= 0.93-1.12; p=0.59; for TT+ CT vs. CC: OR=1.07; 95%CI= 0.94-1.22; p=0.87). Conclusions: Evidence from the current meta-analysis indicated that the C677T polymorphism is not associated with CRC risk in Asian populations. Further investigations are needed to offer better insight into any role of this polymorphism in colorectal carcinogenesis.

• 한국축산식품학회지
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• 제31권4호
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• pp.537-542
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• 2011

Biological or physiological genes that regulate metabolism and energy partitioning have the potential to influence economically important traits such as carcass and meat quality traits in beef cattle. The neuropeptide Y (NPY) functions as a central appetite stimulator and plays a major role in feed intake and energy-balance control. Therefore, the NPY gene is an excellent biological and physiological candidate gene for body weight, feeding, fatness or growth related traits in beef cattle. The objective of this study was to identify single nucleotide polymorphisms (SNPs) in the NPY gene and to evaluate the association of NPY SNP markers with carcass and meat quality traits in Korean cattle. The genomic region (711 bp) including intron 2 of NPY gene was amplified and sequenced, and five SNPs, g.4389 Del(C), g.4371Del(C), g.4271T>C, g.1899A>G and g.1517A>C, were identified. The PCR-RFLP method was then developed to genotype the individuals examined. The g.4271T>C SNP was significantly associated with M. Longissimus dori area (LDA) value (p<0.027). Animals with the TT ($78.144{\pm}0.950\;cm^2$) genotype had higher LDA than those with the CC ($72.266{\pm}2.039\;cm^2$), and animals with TC genotype showed intermediate value. This SNP genotype also showed a highly significant additive genetic effect for the LDA (p<0.01). No significant associations, however, was detected between any of the SNP genotype and other carcass traits measured in this study. In conclusion, SNP genotype of the NPY gene may be used as DNA markers to select animals that have a higher meat yield.

• 한국어류학회지
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• 제18권4호
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• pp.300-310
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• 2006

한국 서해안의 서천 및 고창지역과 남해안의 부산지역으로부터 채취한 전어(Konosirus punctatus) 3개 집단의 개체로부터 genomic DNA를 분리 추출하여 PCR로 반복해서 증폭시켰다. 8개의 decamer와 20-mer를 사용하여 전체적으로 서천의 전어집단에서 713개의 loci, 부산집단에서 791개 및 고창 전어집단으로부터 732개의 100 bp에서 2,800 bp의 크기에 해당되는 total loci를 얻어냈다. 우리는 서천 전어집단에서 독특한 50개의 unique loci, 부산 전어집단으로부터 70개의 unique loci 그리고 고창의 전어집단으로부터 130개의 unique loci를 각각 확인하였고, 또한 3개 전어집단 모두에 대해서 공통적으로 가지고 있는 120개의 shared loci도 확인하였다. 특이한 specific loci를 확인한 결과 서천 전어집단에서는 108개(15.1%), 부산집단에서는 74개(9.4%) 그리고 고창 전어집단에서는 67개(9.2%)를 각각 얻어냈다. 또한 8개의 primer를 통해서 서천 전어집단에서 48개 (6.7%), 부산 전어집단에서는 26개 (3.3%) 그리고 고창 전어집단에서 16개 (2.2%)의 polymorphic loci를 얻어냈다. Similarity matrix를 통해서 볼 때 서천 전어집단에서 0.756에서 0.936까지, 부산집단에서 0.800에서 0.938까지 그리고 고창 전어집단에서 0.731에서 0.959까지의 공유가(bandsharing value)를 확인하였다. 8개의 primer를 이용하여 얻어진 dendrogram을 통해서 볼 때 genetic cluster는 cluster 1 (SEOCHEON 01~SEOCHEON 10), cluster 2 (BUSAN 11~BUSAN 20과 GOCHANG 23~GOCHANG 24) 그리고 cluster 3 (GOCHANG 21, 22, 25, 26, 27, 28, 29 및 30)와 같이 3개의 cluster로 나누어졌다. 위에서와 같이 고창 전어집단의 일부 개체는 부산 전어집단에 속하는 것으로 나타났으며, 따라서 2 전어집단의 일부 개체들은 부분적으로 오고 가는 이주현상을 나타내는 것으로 사려된다. 이러한 결과를 볼 때 RAPD-PCR 분석 방법을 통해서 우리는 지리적으로 떨어져 있는 3개의 전어 집단에 존재하는 유의성이 있는 유전적 거리를 확인할 수 있었다. 여러 가지 decamer와 20-mer를 이용한 RAPD-PCR 분석 방법은 종 및 지리적 집단과 지리적 전어집단에 존재하는 유전적 다양성, 다형성 및 유전적 유사성을 확인하는데 필요로 하는 독특한 specific/polymorphic marker를 확인할 수 있는 이용 가능한 방법이라고 할 수 있다.

• Pediatric Infection and Vaccine
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• 제15권2호
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• pp.195-201
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• 2008

목 적 : 본 연구는 어린 연령의 소아에서 선천성 면역력의 중요한 인자인 Mannose Binding Lectin (MBL2) 유전자 다형성의 분포를 가와사끼병 환자군과 정상대조군에서 분석함으로써, MBL2 유전자의 다양성이 소아의 가와사끼병의 발생에 기여하는지를 밝히고자 하였다. 방 법 : 대상은 2003년 10월부터 2005년 3월까지 18개월 동안 분당서울대학교병원 소아청소년과에서 가와사끼병으로 진단받고 치료받은 112명의 환자군과 건강한 성인 224명의 대조군으로 선정하였다. 유전형 분석은 선천성 면역의 중추적 역할을 하는 MBL2 유전자의 codon 54의 분포를 환자대조군에서 비교하여 분석하였다. 결 과 : 환자군 112명의 중앙 연령은 27개월로, 24개월 미만이 45.5%, 24개월 이상이 54.5%를 차지하였다. MBL2 codon 54 유전형은 환자군과 대조군에서 모두 Hardy-Weinberg 평형을 이루었다. 환자군에서 MBL2 유전형은 유전형 aa 67.9%, 이형접합 ab 29.5%, 그리고 유전형 bb 2.6%로 나타났다. Codon 54의 다형성은 환자군과 대조군간에 차이가 없었다. 또한 연령 24개월을 기준으로 하여 비교한 유전형의 분포에도 차이가 없는 것으로 나타났다. 결 론 : 본 연구 결과, 한국인 소아에서 MBL2 유전자의 다형성이 가와사끼병의 발병에 기여하는 유전적 인자임을 밝히지 못하였다. 향후 전향적으로 수집한 더 많은 수의 환자군과 적절한 대조군을 통한 연구가 시행 되어야 할 것으로 생각한다.

• Journal of Animal Science and Technology
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• 제66권3호
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• pp.567-576
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• 2024

Subclinical ketosis (SCK) is a prevalent metabolic disorder that occurs during the transition to lactation period. It is defined as a high blood concentration of ketone bodies (beta-hydroxybutyric acid f ≥ 1.2 mmol/L) within the first few weeks of lactation, and often presents without clinical signs. SCK is mainly caused by negative energy balance (NEB). The objective of this study is to identify single nucleotide polymorphisms (SNPs) associated with SCK using genome-wide association studies (GWAS), and to predict the biological functions of proximal genes using gene-set enrichment analysis (GSEA). Blood samples were collected from 112 Holstein cows between 5 and 18 days postpartum to determine the incidence of SCK. Genomic DNA extracted from both SCK and healthy cows was examined using the Illumina Bovine SNP50K BeadChip for genotyping. GWAS revealed 194 putative SNPs and 163 genes associated with those SNPs. Additionally, GSEA showed that the genes retrieved by Database for Annotation, Visualization, and Integrated Discovery (DAVID) belonged to calcium signaling, starch and sucrose, immune network, and metabolic pathways. Furthermore, the proximal genes were found to be related to germ cell and early embryo development. In summary, this study proposes several feasible SNPs and genes associated with SCK through GWAS and GSEA. These candidates can be utilized in selective breeding programs to reduce the genetic risk for SCK and subfertility in high-performance dairy cows.

• Asian-Australasian Journal of Animal Sciences
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• 제21권5호
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• pp.624-627
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• 2008

An enrichment library of GATA-repeats from genomic DNA was constructed in this study to isolate and characterize microsatellite loci in Tsaiya duck (Anas platyrhynchos). Thirty-three microsatellite markers were developed and used to detect polymorphisms in 30 Tsaiya ducks. A total of 177 alleles were observed and all loci except APT022 were polymorphic. The number of alleles ranged from 2 to 9 with an average of 5.5 per microsatellite locus. The observed and expected heterozygosity of these polymorphic markers ranged from 0.07 to 0.93 with an average number of 0.60 and 0.10 to 0.86 with an average number of 0.61, respectively. Among the polymorphic markers, the observed heterozygosities of 23 loci were higher than 0.50 (69.70%). The polymorphism information content (PIC) in the 32 loci ranged from 0.09 to 0.83 with an average of 0.57. Seven of the 33 duck microsatellite loci had orthologs in the chicken genome, but only APT004 had a similar core repeat to chickens. These microsatellite markers will be useful in constructing a genetic linkage map for the duck and a comparative mapping with the chicken can also provide a valuable tool for studies related to biodiversity and population genetics in this duck species.

• 한국식품영양과학회:학술대회논문집
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• 한국식품영양과학회 2004년도 Annual Meeting and International Symposium
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• pp.17-23
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• 2004

Not all individuals respond identically, or at times in the same direction, to dietary interventions. These inconsistencies likely arise because of diet and genomic interactions (nutrigenomics effects). A host of factors may influence the response to bioactive food components including specific polymorphisms (nutrigenetic effect), DNA methylation patterns and other epigenomic factors (nutritional epigenomic effects), capacity to induce anuo. suppress specific mRNA expression and patterns (nutritional transcriptomics), the occurrence and activity of proteins (proteomic effects), and/or the dose and temporal changes in cellular small molecular weight compounds will not only provide clues about specificity in response to food components, but assist in the identification of surrogate tissues and biomarkers that can predict a response. While this 'discovery' phase is critical for defining mechanisms and targets, and thus those who will benefit most from intervention, its true usefulness depends on moving this understanding into 'development' (interventions for better prevention, detection, diagnosis, and treatment) and a 'delivery' phase where information is provided to those most in need. It is incumbent on those involved with food and nutrition to embrace the 'omics' that relate to nutrition when considering not only the nutritional value of foods and their food components, but also when addressing acceptability and safety. The future of 'Nutrigenomics and Health Promotion' depends on the ability of the scientific community to identity appropriate biomarkers and susceptibility variants, effective communications about the merits of such undertakings with the health care community and with consumers, and doing all of this within a responsible bioethical framework.

• 한국연초학회지
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• 제30권2호
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• pp.85-93
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• 2008

This report describes a set of seven informative single-nucleotide polymorphisms (SNPs) and one insertion-deletion (INDEL) distributed over 24 cultivars that can be used for tobacco (Nicotiana tabacum L.) cultivar identification. We analyzed 163,000 genomic DNA sequences downloaded from Tobacco Genome Initiative database and assembled 31,370 contigs and 60,000 singletons. Using relatively long contigs, we designed primer sets for PCR amplification. We amplified 61 loci from 24 cultivars and sequenced the PCR products. We found seven significant SNPs and one INDEL among the sequences and we classified the 24 cultivars into 10 groups. SNP frequency of tobacco, 1/8,380 bp, was very low in comparison with those of other plant species, between 1/46 bp and 1/336 bp. For exact identification of tobacco cultivars, many more SNP markers should be developed. This study is the first attempt to identify tobacco cultivars using SNP markers.