• 생명과학회지
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• 제24권11호
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• pp.1168-1173
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• 2014

HGD (homogentisate1,2-dioxygenase)유전자는 소의 1번 염색체에 존재하며, tyrosine과 phenylalanine의 이화 작용을 돕는 효소 중 하나로 알려져 있다. 또한 소에서 도체중과 등심단면적에 영향을 주는 유전자로 보고된 바 있다. 본 연구는 한우 집단을 대상으로 HGD유전자내 변이지역을 탐색하고, 경제형질과의 연관성을 분석하기 위하여 실시하였다. 총 14개의 Exon지역을 바탕으로 변이지역을 탐색한 결과, 10개의 SNPs를 확인하였고, 이 중 genotype의 Frequency (MAF>0.1)를 고려하여 6개의 SNPs (G34256T, G34257C, T34284C, T42333G, T42348C, T42468C)를 발굴하여 경제형질과의 연관성을 분석하였다. 그 결과 G34256T에서 근내지방도와 유의적인 연관성이 확인되었고, G34257C에서 등심단면적과 근내지방도에서 유의적인 연관성이 확인되었다. 따라서 본 연구 결과에서 확인된 HGD 유전자의 SNP유전자형은 한우선발 및 개량을 위한 분자육종의 기초 자료로 이용할 수 있을 것으로 사료된다.

• 한국산학기술학회논문지
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• 제11권2호
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• pp.720-726
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• 2010

Haplotype은 연관성을 띠면서 함께 유전하는 SNP (Single Nucleotide Polymorphism) 집단을 반영하고 있기 때문에 맞춤의학 분야에서 haplotype기반의 연구 중요성이 지속적으로 급증하고 있다. in silico 방법을 바탕으로 Haplotype 재조합을 위해 현재 가장 널리 사용되는 공개용 리소스 응용소프트웨어로는 PL-EM, Haplotyper, PHASE 및 HAP 등이 있다. PL-EM, Haplotyper 및 PHASE 등은 리눅스와 유닉스 시스템에서 구동되는 명령라인 응용 소프트웨어이고, HAP는 클라이언트-서버 환경에서 웹기반으로 구동되는 소프트웨어이다. 본 논문에서는 실험적으로 검증된 데이터들을 이용하여 공개용 리소스 소프트웨어들의 정확성을 검증하고, 그러한 검증결과를 토대로 선별된 Haplotyper와 PL-EM 등으로 개발한 통합 haplotye 재조합 시스템에 대해 소개하고자 한다. 개발된 통합 시스템은 사용자 친화적 웹 인터페이스를 갖는 클라이언트-서버 시스템으로 최종 사용자들에게 양질의 haplotype 분석 결과를 제공할 수 있다. Haplotyper의 경우 5명의 개체로부터 얻은 길이가 5인 SNP 유전자형 데이터를 가지고 결과를 분석하였고, PL-EM의 경우 15명의 개체로부터 얻은 길이가 13인 SNP 유전자형 데이터를 가지고 결과를 분석하였다. 그 결과 본 시스템은 두 부분으로 나누어 개개인의 haplotype 정보와 haplotype 집단 정보를 이해하기 쉽게 체계적으로 제공하는 것을 확인하였다. 이러한 측면에서 본 시스템은 haplotype 지도 작성을 통한 질병 유전자 발굴 및 맞춤의약 개발 연구에 매우 유용한 도구로 사용될 수 있으리라 여겨진다.

• 한국자원식물학회지
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• 제34권5호
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• pp.478-490
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• 2021

멜론은 세계 각지에서 재배되는 경제적으로 중요한 작물중의 하나이다. 본 연구는 농업유전자원센터에서 수집 보관중인 멜론 유전자원을 대상으로 다양한 생육 특성을 특성을 조사하고, 멜론의 중요한 육종 형질중의 하나인 과육색의 유전형과 표현형을 조사하여 멜론 육종에 필요한 육종 재료 확보를 위한 기초 자료를 마련하고자 수행되었다. 총 219개의 멜론 유전자원을 대상으로 19개의 생육 특성과 PCA분석을 수행하고, 멜론의 중요한 육종 형질중의 하나인 과육색의 유전형을 조사하여 표현형과 비교하였다. 과육색은 오렌지색, 백색, 녹색, 유백색, 황색의 5가지로 분류하였으며, 이중 오렌지색이 87개로 가장 많았으며, 그 다음으로 백색이 75개였다. 그리고, 오렌지색과 녹색 과육 구별용 마커를 적용한 결과, 녹색 과육 21개의 경우는 표현형과 유전형 일치율이 100%였으며, 오렌지색의 경우는 98%, 백색은 97%, 유백색의 경우는 80%의 일치율을 보였다. 표현형과 유전형이 일치하는 않는 총 8개 유전자원의 염기서열을 분석한 결과, 3곳의 위치에서 단일염기다형성(SNP; single nucleotide polymorphism)이 있었다. 이러한 결과는 멜론의 과육색을 결정하는 아직 알려지지 않은 유전기작이 존재한다는 것을 제시하였으며, 본 연구에서 얻어진 다양한 유전자원의 생육조사 결과는 멜론 육종에 유용하게 쓰일 것으로 생각된다.

• Journal of Animal Science and Technology
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• 제66권4호
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• pp.702-716
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• 2024

The objective of this study was to identify genomic regions and candidate genes associated with productive traits using a total of 37,099 productive records and 6,683 single nucleotide polymorphism (SNP) data obtained from five Great-Grand-Parents (GGP) farms in Landrace. The estimated of heritabilities for days to 105 kg (AGE), average daily gain (ADG), backfat thickness (BF), and eye muscle area (EMA) were 0.49, 0.49, 0.56, and 0.23, respectively. We identified a genetic window that explained 2.05%-2.34% for each trait of the total genetic variance. We observed a clear partitioning of the four traits into two groups, and the most significant genomic region for AGE and ADG were located on the Sus scrofa chromosome (SSC) 1, while BF and EMA were located on SSC 2. We conducted Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG), which revealed results in three biological processes, four cellular component, three molecular function, and six KEGG pathway. Significant SNPs can be used as markers for quantitative trait loci (QTL) investigation and genomic selection (GS) for productive traits in Landrace pig.

• Asian-Australasian Journal of Animal Sciences
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• 제30권12호
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• pp.1689-1695
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• 2017

Objective: The cytokine inducible SH2-containing protein (CISH), which might play a role in porcine intestine immune responses, was one of the promising candidate genes for piglet anti-disease traits. An experiment was conducted to characterize the porcine CISH (pCISH) gene and to evaluate its genetic effects on pig anti-disease breeding. Methods: Both reverse transcription polymerase chain reaction (RT-PCR) and PCR were performed to obtain the sequence of pCISH gene. A pEGFP-C1-CISH vector was constructed and transfected into PK-15 cells to analysis the distribution of pCISH. The sequences of individuals were compared with each other to find the polymorphisms in pCISH gene. The association analysis was performed in Min pigs and Landrace pigs to evaluate the genetic effects on piglet diarrhea traits. Results: In the present research, the coding sequence and genomic sequence of pCISH gene was obtained. Porcine CISH was mainly localized in cytoplasm. TaqI and HaeIII PCR restriction fragment length polymorphism (RFLP) assays were established to detect single nucleotide polymorphisms (SNPs); A-1575G in promoter region and A2497C in Intron1, respectively. Association studies indicated that SNP A-1575G was significantly associated with diarrhea index of Min piglets (p<0.05) and SNP A2497C was significantly associated with the diarrhea trait of both Min pig and Landrace piglets (p<0.05). Conclusion: This study suggested that the pCISH gene might be a novel candidate gene for pig anti-disease traits, and further studies are needed to confirm the results of this preliminary research.

• 한국축산식품학회지
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• 제32권1호
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• pp.6-12
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• 2012

The association of three candidate genes, fatty acid synthase (FASN), microsomal triglyceride transfer protein (MTTP) and fatty acid binding protein 3 (FABP3), with fatty acid (FA) composition in Duroc pigs was investigated. Identified single nucleotide polymorphisms (SNPs) were used for polymerase chain reaction-restriction fragment length polymorphism genotyping. The c.265C>T SNP of FASN gene was significantly associated with high levels of palmitoleic acid (C16:1) (p<0.05), oleic acid (C18:1) (p<0.01), and mono-unsaturated fatty acid (MUFA) (p<0.01), but low levels of linoleic acid (C18:2) (p<0.01), alpha linolenic acid (C18:3) (p<0.05), and poly-unsaturated fatty acid (PUFA) (p<0.01) in animals having the CT genotype. The c.2573T>C SNP in the MTTP gene had a significant effect only in elevating the level of palmitoleic acid (C16:1) (p<0.05) in heterozygote animals. The polymorphism in FABP3 showed no significant effects on any fatty acid composition traits. These results suggest that the identified SNPs in the FASN and MTTP genes can be useful markers for selecting Duroc pigs having desirable healthy fatty acid composition.

• Journal of Acupuncture Research
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• 제23권2호
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• pp.173-179
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• 2006

Objectives : In this study, we investigated the SNP (single-nucleotide polymorphism) of IL10 in patients with stroke. The present study was undertaken to see if specific genotypic and allelic variations are associated with stroke in the Korean population. Methods : Blood samples from all subjects were obtained for DNA extraction and collected in EDTA tube. Genomic DNA was extracted using DNA isolation kit for Mammalian Blood (Boehringer Mannheim, IN, USA). The extracted DNA was amplified by polymerase chain reaction (PCR). Pyrosequencing was performed according to manufacturer's standard protocol. Results : There was no statistically significant genotypic distribution difference between control and stroke group. The frequencies of A/A homozygotes and A/C heterozygotes among control subjects were 91 (87.5%) and 13 (12.5%). The frequencies of A/A and A/C among the stroke patients were 85 (89.5%) and 10 (10.5%). There was not statistically significant allelic frequency difference between control and stroke group. The allelic frequency of A and C was 195 (93.8%) and 13 (6.2%) among the control subjects and 180 (94.7%) and 10 (5.3%) in stroke patients, respectively. Conclusion : The cytokine IL10 may not be pathogenetic factors in stroke. But further studies including different cytokine gene can be a useful for predicting stroke. Establishment of more systemic approach and high quality of prospective cohorts will be necessary for the good prediction of genetic markers.

• 대한화학회지
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• 제50권2호
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• pp.116-122
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• 2006

종양억제유전자(tumor-suppressor gene)는 유방암종과 관련하여 높은 돌연변이 비율로 나타나고 있는 것으로 보고되어지고 있다. p53 유전자는 20kb의 크기를 갖는 유전자로써 인간 염색체의 17p13.1에 위치하고 있다. 본 실험에서는 유방암으로 진단 받고 수술한 환자의 조직 100개와 환자와 전혀 상관없는 정상 조직 103개를 대상으로 DNA를 추출하고 PCR-DHPLC(polymerase chain reaction-denaturing high performance liquid chromatography) 방법으로 단일 염기 다형성을 검출하였다. 또한 컬럼의 충진물질과 DNA의 결합에 의한 분리능을 확인하기 위해 충진물이 다른 컬럼의 단일 염기 다형성을 실험하였다. 그 결과 100개의 유방암 조직 중 exon 5에서 11개(11%)의 C/A, C/G genotype을, exon 8에서 42개(42%) T del genotype을 확인하였다. 103개의 정상 조직에서 exon 5에서 2개(2.9%), exon 8에서 9개(8.7%)의 polymorphism을 확인하였다. 컬럼의 분리능 실험에서는 PS-DVB(poly styrene - divinylbenzene)으로 충진된 컬럼이 C18으로 충진된 컬럼보다 더 좋은 분리능을 보였다.

• Genomics & Informatics
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• 제7권4호
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• pp.187-194
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• 2009

Cytochrome P450 2E1 (CYP2E1) is a member of the cytochrome P450 superfamily, and it is a key enzyme responsible for the metabolic activation of many smallmolecular-weight compounds such as alcohol, which is classified as a human carcinogen. In this study, we identified 19 single nucleotide polymorphisms (SNPs) in CYP2E1 in Korean population. In these SNPs, we examined possible genetic association of CYP2E1 polymorphisms with HBV clearance and the risk of hepatocellular carcinoma (HCC). Five common polymorphic sites were selected, CYP2E1 polymorphisms at rs381-3867, rs3813870, rs2070673, rs2515641 and rs2480257, considering their allele frequencies, haplotype-tagging status and LDs for genotyping in larger-scale subjects (n=1,092). Statistical analysis demonstrated that CYP2E1 polymorphisms and haplotypes show no significant association with HBV clearance, HCC occurrence and onset age of HCC (p>0.05). Previous studies, however, have shown contradictory findings on associations of CYP2E1 polymorphisms with CYP2E1 activities and HCC risk. Comparing the contrasting results of previous researches suggest that CYP2E1 polymorphism is associated with CYP2E1 activity induced by ethanol, but is not directly associated with HCC risk. CYP2E1 variation/haploype information identified in this study will provide valuable information for future studies on CYP2E1.

• Mycobiology
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• 제51권3호
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• pp.139-147
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• 2023

Aspergillus sojae has long been considered a domesticated strain of Aspergillus parasiticus. This study delineated relationships among the two species and an Aspergillus PWE36 isolate. Of 25 examined clustered aflatoxin genes of PWE36, 20 gene sequences were identical to those of A. sojae, but all had variations to those of A. parasiticus. Additionally, PWE36 developmental genes of conidiation and sclerotial formation, overall, shared higher degrees of nucleotide sequence identity with A. sojae genes than with A. parasiticus genes. Examination of defective cyclopiazonic acid gene clusters revealed that the PWE36 deletion pattern was identical only to those of A. sojae. Using A. sojae SMF134 genome sequence as a reference, visualization of locally collinear blocks indicated that PWE36 shared higher genome sequence homologies with A. sojae than with A. parasiticus. Phylogenetic inference based on genome-wide single nucleotide polymorphisms (SNPs) and total SNP counts showed that A. sojae strains formed a monophyletic clade and were clonal. Two (Argentinian and Ugandan) A. parasiticus isolates but not including an Ethiopian isolate formed a monophyletic clade, which showed that A. parasiticus population is genetically diverse and distant to A. sojae. PWE36 and A. sojae shared a most recent common ancestor (MRCA). The estimated divergence time for PWE36 and A. sojae was about 0.4 mya. Unlike Aspergillus oryzae, another koji mold that includes genetically diverse populations, the findings that current A. sojae strains formed a monophyletic group and shared the MRCA with PWE36 allow A. sojae to be continuously treated as a species for food safety reasons.