• 농업과학연구
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• 제44권4호
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• pp.495-503
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• 2017

Genotyping-by-sequencing (GBS) is an outstanding technology for genotyping and single nucleotide polymorphism (SNP) discovery compared to next generation sequencing (NGS) because it can save time when analyzing large-scale samples and carries a low cost per sample. Recently, studies using GBS have been conducted on major crops and, to a greater extent, on fruit crops. However, many researchers have some problems due to low GBS efficiency resulting from low quality GBS libraries. To overcome this limitation, we developed an efficient GBS library construction method that regulates important conditions such as restriction enzymes (RE) digestion and a PCR procedure for grapevine. For RE digestion, DNA samples are digested with ApeKI (3.6U) at $75^{\circ}C$ for 5 hours and adapters are ligated to the ends of gDNA products. To produce suitable PCR fragments for sequencing, we modified the PCR amplification conditions; temperature cycling consisted of $72^{\circ}C$ (5 min), $98^{\circ}C$ (30 s), followed by 16 cycles of $98^{\circ}C$ (30 s), $65^{\circ}C$ (30 s), $72^{\circ}C$ (20 s) with a final extension step. As a result, we had obtained optimal library construct sizes (200 to 400 bp) for GBS analysis. Furthermore, it not only increased the mapping efficiency by approximately 10.17% compared to the previous method, but also produced mapped reads which were distributed equally on the19 chromosomes in the grape genome. Therefore, we suggest that this system can be used for various fruit crops and is expected to increase the efficiency of various genomic analysis performed.

• 한국가금학회지
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• 제36권1호
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• pp.85-88
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• 2009

조류에서 미토콘드리아내 유전자인 cytochrome c oxidase I(COI)는 종 구분을 위한 바이오마커로 많이 이용이 되고 있다. 본 연구는 이 유전자의 변이를 이용하여 닭의 품종 구분이 가능한지를 실험하기 위하여 실시하였다. 그 결과 한국 재래닭은 공시축으로 사용한 산란계인 White Leghorn과 육계인 Cornish가 가지고 있는 단일염기다형을 모두 가지고 있는 것으로 판명되어 품종구분을 위한 마커로 사용하기에는 적합하지 않은 것으로 확인되었다. 그러나 본 연구 결과를 통하여 한국재래계가 육계와 산란계의 특성을 모두 가지고 있다는 기존의 학설을 뒷받침하였으며, 품종 구분을 위하여 미토콘드리아와 genomic DNA 유래 단일염기다형 선발의 중요성을 확인할 수 있었다.

• Molecules and Cells
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• 제25권2호
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• pp.265-271
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• 2008

Single nucleotide polymorphisms (SNPs) are the most common form of human genetic variation. Non-synonymous SNPs (nsSNPs) change an amino acid. Organic anion transporters (OATs) play an important role in eliminating or reabsorbing endogenous and exogenous organic anionic compounds. Among OATs, hOAT4 mediates high affinity transport of estrone sulfate and dehydroepiandrosterone sulfate. The rapid bone loss that occurs in post-menopausal women is mainly due to a net decrease of estrogen. In the present study we searched for SNPs within the exon regions of hOAT4 in Korean women osteoporosis patients. Fifty healthy subjects and 50 subjects with osteoporosis were screened for genetic polymorphism in the coding region of SLC22A11 (hOAT4) using GC-clamp PCR and denaturing gradient gel electrophoresis (DGGE). We found three SNPs in the hOAT4 gene. Two were in the osteoporosis group (C483A and G832A) and one in the normal group (C847T). One of the SNPs, G832A, is an nsSNP that changes the $278^{th}$ amino acid from glutamic acid to lysine (E278K). Uptake of [$3^H$] estrone sulfate by oocytes injected with the hOAT4 E278K mutant was reduced compared with wild-type hOAT4. Km values for wild type and E278K were $0.7{\mu}M$ and $1.2{\mu}M$, and Vmax values were 1.8 and 0.47 pmol/oocyte/h, respectively. The present study demonstrates that hOAT4 variants can causing inter-individual variation in anionic drug uptake and, therefore, could be used as markers for certain diseases including osteoporosis.

• The Korean journal of internal medicine
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• 제33권6호
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• pp.1103-1110
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• 2018

Background/Aims: Several epidemiological studies have validated the association of interleukin gene polymorphisms with acute pancreatitis (AP) in different populations. However, there have been few studies in Asian ethnic groups. We aimed to investigate the relationships between inflammatory cytokine polymorphisms and AP as pilot research in a Korean ethnic group. Methods: Patients who had been diagnosed with AP were prospectively enrolled. DNA was extracted from whole blood, and DNA sequencing was subsequently performed. Single-nucleotide polymorphisms (SNPs) of the interleukin $1{\beta}$ (IL1B), interleukin 1 receptor antagonist (IL1RN), and tumor necrosis factor ${\alpha}$ (TNFA) genes of patients with AP were compared to those of normal controls. Results: Between January 2011 and January 2013, a total of 65 subjects were enrolled (40 patients with AP vs. 25 healthy controls). One intronic SNP (IL1RN -1129T>C, rs4251961) was significantly associated with the risk of AP (odds ratio, 0.304; 95% confidence interval, 0.095 to 0.967; p = 0.043). However, in our study, AP was not found to be associated with polymorphisms in the promoter regions of inflammatory cytokine genes, including IL1B (-118C>T, c47+242C>T, +3954C/T, and -598T>C) and TNFA (-1211T>C, -1043C>A, -1037C>T, -488G>A, and -418G>A). Conclusions: IL1RN -1129T>C (rs4251961) genotypes might be associated with a significant increase of AP risk in a Korean ethnic group.

• 과학기술학연구
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• 제19권2호
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• pp.117-167
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• 2019

인간 유전체 프로젝트의 초안 발표 이후 여러 한국인 유전체 프로젝트들이 추진되었다. 그 결과 등장한 한국인 유전체를 둘러싼 흥미로운 담론 중 하나는 "한국인 유전체" 서열 분석을 통해 "아시아인 맞춤의학"을 구현할 수 있다는 주장이다. 본 논문은 이를 한국 유전체 학자들이 자국민에 대한 유전체 자료를 상업화하려는 노력 가운데 발전시킨 전략으로 인지하고, 이 "아시아인 건강을 위한 한국인 게놈" 전략이 출현하게 된 배경을 역사적으로 검토한다. 이 글은 한국 유전체 프로젝트들의 전략이 탈식민 국가들에서 빈번하게 발견되는 "유전체 주권"(genome sovereignty) 정책이 2000년대 초반 이후 한국에서 주요 정책 의제로 부상한 아시아 지역주의와 결합하여 등장한 산물이라고 주장한다. 이를 통해 이 연구는 그간 범아시아 SNP 컨소시엄(Pan-Asian Single Nucleotide Polymorphism Consortium)을 중심으로 논의된 유전체학과 아시아인의 구성에 관한 과학기술학 연구가 국소적인 아시아인 관념과 아시아 지역주의를 가진 싱가포르의 경험을 지나치게 일반화해왔음을 지적한다. 이와 함께 한국 유전체학 거버넌스에서 과학기술학자들이 맡을 수 있는 역할에 대해서도 고민해 볼 기회를 제공할 것이다.

• 한국동물생명공학회지
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• 제38권1호
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• pp.32-37
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• 2023

This study has evaluated the genomic estimated breeding value (GEBV) of the commercial Hanwoo population using the genomic best linear unbiased prediction (GBLUP) method and genomic information. Furthermore, it analyzed the accuracy and realized accuracy of the GEBV. 1,740 heads of the Hanwoo population which were analyzed using a single nucleotide polymorphism (SNP) Chip has selected as the test population. For carcass weight (CWT), eye muscle area (EMA), back fat thickness (BFT), and marbling score (MS), the mean GEBVs estimated using the GBLUP method were 3.819, 0.740, -0.248, and 0.041, respectively and the accuracy of each trait was 0.743, 0.728, 0.737, and 0.765, respectively. The accuracy of the breeding value was affected by heritability. The accuracy was estimated to be low in EMA with low heritability and high in MS with high heritability. Realized accuracy values of 0.522, 0.404, 0.444, and 0.539 for CWT, EMA, BFT, and MS, respectively, showing the same pattern as the accuracy value. The results of this study suggest that the breeding value of each individual can be estimated with higher accuracy by estimating the GEBV using the genomic information of 18,499 reference populations. If this method is used and applied to individual selection in a commercial Hanwoo population, more precise and economical individual selection is possible. In addition, continuous verification of the GBLUP model and establishment of a reference population suitable for commercial Hanwoo populations in Korea will enable a more accurate evaluation of individuals.

• Journal of Animal Science and Technology
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• 제65권5호
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• pp.912-921
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• 2023

Genetic diversity analysis is crucial for maintaining and managing genetic resources. Several studies have examined the genetic diversity of Korean domestic chicken (KDC) populations using microsatellite markers, but it is difficult to capture the characteristics of the whole genome in this manner. Hence, this study analyzed the genetic diversity of several KDC populations using high-density single nucleotide polymorphism (SNP) genotype data. We examined 935 birds from 21 KDC populations, including indigenous and adapted Korean native chicken (KNC), Hyunin and Jeju KDC, and Hanhyup commercial KDC populations. A total of 212,420 SNPs of 21 KDC populations were used for calculating genetic distances and fixation index, and for ADMIXTURE analysis. As a result of the analysis, the indigenous KNC groups were genetically closer and more fixed than the other groups. Furthermore, Hyunin and Jeju KDC were similar to the indigenous KNC. In comparison, adapted KNC and Hanhyup KDC populations derived from the same original species were genetically close to each other, but had different genetic structures from the others. In conclusion, this study suggests that continuous evaluation and management are required to prevent a loss of genetic diversity in each group. Basic genetic information is provided that can be used to improve breeds quickly by utilizing the various characteristics of native chickens.

• Genomics & Informatics
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• 제21권4호
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• pp.47.1-47.12
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• 2023

Silver barb (Barbonymus gonionotus) is among the most economically important freshwater fish species in Thailand. It ranks fourth in economic value and third in production weight for fisheries and culture in Thailand. An XX/XY sex-determination system based on gynogenesis was previously reported for this fish. In this study, the molecular basis underlying the sex-determination system was further investigated. Genome-wide single-nucleotide polymorphism data were generated for 32 captive-bred silver barb individuals, previously scored by phenotypic sex, to identify sex-linked regions associated with sex determination. Sixty-three male-linked loci, indicating putative XY chromosomes, were identified. Male-specific loci were not observed, which indicates that the putative Y chromosome is young and the sex determination region is cryptic. A homology search revealed that most male-linked loci were homologous to the Mariner/Tc1 and Gypsy transposable elements and are probably the remnants of an initial accumulation of repeats on the Y chromosome from the early stages of sex chromosome differentiation. This research provides convincing insights into the mechanism of sex determination and reveals the potential sex determination regions in silver barb. The study provides the basic data necessary for increasing the commercial value of silver barbs through genetic improvements.

• 응용통계연구
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• 제22권6호
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• pp.1239-1247
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• 2009

인간의 질병 또는 가축의 경제적인 특성에 관한 유전자의 규명은 매우 중요한 관심사이며, 우리나라 축산업을 대표하는 한우의 유전자원 보존과 능력향상은 매우 중요한 과제이다. 이를 연구하기 위해 기존 EST_based SNP 연관지도를 사용하여 발굴한 유전자로 연구되어왔으나 이는 통계학적 모델에 기반한 연관지도 작성법으로 실제 위치와는 차이가 있을 수 있다. 따라서 Lee (2009)에 의해 EST_based SNP 연관지도와 염기서열 분석으로 작성되어지는 Gene on sequence를 함께 고려하여 한우의 경제형질 연관 후보 DNA marker들이 발견되었다. 한편, 통계모형의 상호작용 효과를 고려할 때, 유전자와 같은 범주형 data에서 범주가 많을 경우 상호작용의 조합이 많아지므로 종종 모수들의 상호작용에 대한 해석과 모형을 결정하는 것이 어려울 수 있다. 그래서 비모수적인 방법으로 다중인자 차원축소방법 (MDR)을 사용해왔으며, 사례_대조 데이터에만 적용가능 MDR방법을 연속형 데이터에도 적용하기 위해 CART알고리즘을 적용한 확장된 다중인자 차원축소방법(E-MDR)이 제안되었다. 본 연구에서는 새롭게 발견된 단일염기다형성 (SNP)으로부터 E-MDR방법을 적용하여 한우의 경제형질(일당중체량, 근내지방도)에 영향을 주는 우수 유전자 단일염기다형성을 규명하였다.

• 정보처리학회논문지B
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• 제15B권4호
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• pp.323-330
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• 2008

복합질환은 다수의 유전자들이 상호작용하여 유발되는 질병으로서, 여러 유전자들이 관여한다는 복잡성 때문에 전통적인 분석 방법을 적용하는데 한계가 있다. 최근에는 기계학습 기법을 이용한 새로운 분석 방법들이 제안되고 있다. 신경망은 이처럼 복잡한 데이터에서 일정한 패턴을 찾아 이를 분류하는데 적합한 모델이다. 그러나 다량의 데이터가 입력으로 들어오는 경우에 학습에 오랜 시간이 걸리고 패턴을 찾기가 어려워지는 단점이 있다. 본 연구에서는 다량의 SNP 데이터로부터 질병에 연관된 소수의 중요 SNP을 찾기 위한 통계학적인 방법인 집합결합(set association)과 신경망을 결합한 모델을 제시한다. 이 모델을 천식 관련 SNP 데이터에 적용하여 천식 발병 여부를 예측한 결과, 신경망만 사용했을 때보다 실행 시간도 빠르고 예측 정확도도 높았다. 이 모델은 다른 복합질환의 예측에도 효과적으로 사용할 수 있을 것으로 기대한다.