• Title/Summary/Keyword: SNP detection

검색결과 78건 처리시간 0.129초

한우 14번 염색체 QTL 영역내 Fatty acid binding protein 5 유전자의 다형성과 도체 및 육질 형질과의 관련성 분석 (Association between the Polymorphism of the Fatty acid binding protein 5 (FABP5) Gene within the BTA 14 QTL Region and Carcass/Meat Quality Traits in Hanwoo)

  • 허강녕;김남국;이승환;김남영;전진태;박응우;오성종;김태헌;성환후;윤두학
    • Journal of Animal Science and Technology
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    • 제53권4호
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    • pp.311-317
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    • 2011
  • 본 연구는 한우에서 소 염색체 14번(BTA14)에서 근내지방도 및 도체중과 관련성이 보고된 QTL영역(48-58cM) 내의 FABP5 유전자를 대상으로 SNP를 발굴하고 도체형질과의 관련성 분석을 위하여 수행하였다. PCR 및 염기서열결정법을 통해 FABP5 유전자내 4개의 SNP (-1141A>G, 949A>G, 969A>G, 1085C>G)를 발굴하였고, 이중 promoter 영역에 위치하는 SNP의 경우 미 보고된 신규 SNP로 확인되었다. 발굴된 4개의 SNP를 대상으로 표현형 기록치를 보유한 후대검정후 583두에 대하여 유전자형 분석 및 관련성 분석을 수행하였다. 분석 결과 4개의 SNP중 SNP1(-1141A>G)은 근내지방도에 있어서 G유전자형이 A유전자형에 비해서 근내지방도가 2.2 정도 높았고, SNP2 (949A>G)는 배최장근 단면적에 있어서 G유전자형이 A유전자형보다 배장근단면적에 있어서 3 $cm^2$ 만큼 높은 효과를 보였다. 본 결과에 대해 추후 지속적인 연구가 요구되어지며, FABP5의 SNPs은 한우의 도체 및 육질 관련 형질을 위한 유전자 마커로서 활용 가능할 수 있을 것으로 사료된다.

전기화학적 방법에 의한 바이오칩의 SNP 검출 (SNP Detection of Biochip Using Electrochemical System)

  • 최용성;박대희
    • 대한전기학회:학술대회논문집
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    • 대한전기학회 2004년도 하계학술대회 논문집 C
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    • pp.2128-2130
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    • 2004
  • High throughput analysis using a DNA chip microarray is powerful tool in the post genome era. Less labor-intensive and lower cost-performance is required. Thus, this paper aims to develop the multi-channel type label-free DNA chip and detect SNP (Single nucleotide polymorphisms). At first, we fabricated a high integrated type DNA chip array by lithography technology. Various probe DNAs were immobilized on the microelectrode array. We succeeded to discriminate of DNA hybridization between target DNA and mismatched DNA on microarray after immobilization of a various probe DNA and hybridization of label-free target DNA on the electrodes simultaneously. This method is based on redox of an electrochemical ligand.

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비수식화 DNA를 이용한 유전자 검출 (SNP Detection Using Indicator-free DNA Chip)

  • 최용성;문종대;이경섭
    • 한국전기전자재료학회:학술대회논문집
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    • 한국전기전자재료학회 2006년도 하계학술대회 논문집 Vol.7
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    • pp.410-411
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    • 2006
  • High throughput analysis using a DNA chip microarray is powerful tool in the post genome era. Less labor-intensive and lower cost-performance is required. Thus, this paper aims to develop the multi-channel type label-free DNA chip and detect SNP (Single nucleotide polymorphisms). At first, we fabricated a high integrated type DNA chip array by lithography technology. Various probe DNAs were immobilized on the microelectrode array. We succeeded to discriminate of DNA hybridization between target DNA and mismatched DNA on microarray after immobilization of a various probe DNA and hybridization of label-free target DNA on. the electrodes simultaneously. This method is based on redox of an electrochemical ligand.

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Evaluation of Chloroplast Genotypes of Korean Cucumber Cultivars (Cucumis sativus L.) Using sdCAPS Markers Related to Chilling Tolerance

  • Ali, Asjad;Yang, Eun Mi;Lee, Sun Young;Chung, Sang-Min
    • 원예과학기술지
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    • 제31권2호
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    • pp.219-223
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    • 2013
  • DNA markers can determine the genotype of many species. Single nucleotide polymorphism (SNP) detection is difficult without sequencing but it becomes easier with sdCAPS method. Here an experiment was performed for developing molecular markers using two SNPs, CSatpB-SNP and CSycf1-SNP, of chloroplast in cucumber plants. Properly designed primers with nucleotide sequences for restriction enzymes proved success of PCR and efficacy of digestion by the restriction enzymes. Then these markers were used to study the genotyping of cucumber breeding lines and cultivars obtained from various sources in respect of their chilling stress response. We confirmed that a U.S. cucumber line, 'NC76' known to possess a nuclear factor for the chilling tolerance showed the chloroplast genotypes related to chilling tolerance. However all Korean cucumber cultivars tested in this study showed the chloroplast genotypes related to chilling susceptibility. In conclusion, to develop chilling tolerant cucumber, both maternal and a nuclear factors related to chilling tolerance should be transferred from 'NC76' when 'NC76' is used as a female source and other elite lines as recurrent parents.

Comparison of Normalization Methods for Defining Copy Number Variation Using Whole-genome SNP Genotyping Data

  • Kim, Ji-Hong;Yim, Seon-Hee;Jeong, Yong-Bok;Jung, Seong-Hyun;Xu, Hai-Dong;Shin, Seung-Hun;Chung, Yeun-Jun
    • Genomics & Informatics
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    • 제6권4호
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    • pp.231-234
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    • 2008
  • Precise and reliable identification of CNV is still important to fully understand the effect of CNV on genetic diversity and background of complex diseases. SNP marker has been used frequently to detect CNVs, but the analysis of SNP chip data for identifying CNV has not been well established. We compared various normalization methods for CNV analysis and suggest optimal normalization procedure for reliable CNV call. Four normal Koreans and NA10851 HapMap male samples were genotyped using Affymetrix Genome-Wide Human SNP array 5.0. We evaluated the effect of median and quantile normalization to find the optimal normalization for CNV detection based on SNP array data. We also explored the effect of Robust Multichip Average (RMA) background correction for each normalization process. In total, the following 4 combinations of normalization were tried: 1) Median normalization without RMA background correction, 2) Quantile normalization without RMA background correction, 3) Median normalization with RMA background correction, and 4) Quantile normalization with RMA background correction. CNV was called using SW-ARRAY algorithm. We applied 4 different combinations of normalization and compared the effect using intensity ratio profile, box plot, and MA plot. When we applied median and quantile normalizations without RMA background correction, both methods showed similar normalization effect and the final CNV calls were also similar in terms of number and size. In both median and quantile normalizations, RMA backgroundcorrection resulted in widening the range of intensity ratio distribution, which may suggest that RMA background correction may help to detect more CNVs compared to no correction.

수밀력 우수 꿀벌 계통 판별을 위한 계통 특이 분자마커 개발 (Identification of a Single Nucleotide Polymorphism (SNP) Marker for the Detection of Enhanced Honey Production in Hoenybee)

  • 김혜경;이명렬;이만영;최용수;김동원;강아랑
    • 한국양봉학회지
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    • 제32권3호
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    • pp.147-154
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    • 2017
  • 꿀벌은 화분매개 뿐만 아니라, 양봉산물을 생산하는 주요한 산업곤충 중 하나이다. 최근 농촌진흥청과 예천곤충 연구소에서는 국내 최초로 수밀력 우수 꿀벌 품종인 '장원벌'을 선발하여 보급하고 있다. 본 연구에서는 장원벌 계통 특이 분자 마커 개발을 위해 장원벌 부계인 D계통 특이적인 분자 마커를 개발 하고자 Sequence-Based Genotyping (SBG) 분석을 수행하였다. SGB 분석은 농촌진흥청 국립농업과학원에서 보존 육성중인 A, C, D, E, F 5개 기본종 계통에 대해 수행되었으며, 이를 통해 1,029개 SNP를 확보 할 수 있었다. 이후 A, C, D, F, E 기본종 계통 및 $D{\times}F$ 교배계통에 대한 SNP filtering 및 validation을 통해 최종적으로 AmD6 및 AmD9 두 개의 SNP 마커를 선발 하였으며, genotyping 분석을 통해 AmD9 마커가 장원벌 부계인 D 계통을 100% 구분 할 수 있는 것으로 확인되었다. 본 마커를 통해 D 계통 및 장원벌을 보다 정확하게 판별하고 육종에 활용 할 수 있을 것으로 기대하고 있다.

Identification of 1,531 cSNPs from Full-length Enriched cDNA Libraries of the Korean Native Pig Using in Silico Analysis

  • Oh, Youn-Shin;Nguyen, Dinh Truong;Park, Kwang-Ha;Dirisala, Vijaya R.;Choi, Ho-Jun;Park, Chan-Kyu
    • Genomics & Informatics
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    • 제7권2호
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    • pp.65-84
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    • 2009
  • Sequences from the clones of full-length enriched cDNA libraries serve as valuable resources for functional genomics related studies, genome annotation and SNP discovery. We analyzed 7,392 high-quality chromatograms (Phred value ${\geq}$30) obtained from sequencing the 5' ends of clones derived from full-length enriched cDNA libraries of Korean native pigs including brainstem, liver, cerebellum, neocortex and spleen libraries. In addition, 50,000 EST sequence trace files obtained from GenBank were combined with our sequences to identify cSNPs in silico. The process generated 11,324 contigs, of which 2,895 contigs contained at least one SNP and among them 610 contigs had a minimum of one sequence from Korean native pigs. Of 610 contigs, we randomly selected 262 contigs and performed in silico analysis for the identification of cSNPs. From the results, we identified 1,531 putative coding single nucleotide polymorphisms (cSNPs) and the SNP detection frequency was one SNP per 465 bp. A large-scale sequencing result of clones from full-length enriched cDNA libraries and identified cSNPs will serve as a useful resource to functional genomics related projects such as a pig HapMap project in the near future.

금붕어의 동작 감지에 미치는 갭 정션의 역할: 시각운동 반응 측정 (The Role of Gap Junction in the Goldfish's Motion Detection Measured with Optometer Response)

  • 이영섭;윤영현;정창섭
    • 한국의학물리학회지:의학물리
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    • 제17권4호
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    • pp.252-259
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    • 2006
  • 갭 정션(gap junction)은 다양한 세포에 분포되어 있으며 분자 수준의 작은 물질들이 자유롭게 교환되는 전기적 시냅스다. 망막에서, 갭 정션의 차단이 동물의 동작 감지(motion detection)에 실제적으로 어떤 영향을 주는지에 대해서는 거의 조사되지 않았다. 본 연구에서는, 망막 세포간의 전기적 시냅스를 조절하는 약물이 금붕어의 동작 감지에 어떠한 영향을 주는지를 조사하기 위해 시각운동 반응(optometer response, OMR)이 사용되었다. 갭 정션 차단제인 carbenoxolone, 8-bromo cyclic AMP, sodium nitroprusside (SNP), 8-bromo-cyclic GMP 등의 초자체 내 주사는 광- 및 암-상태에서 모두 OMR을 감소시켰다. 광-상태에서 dopamine, SKF-38393 및 eticlopride의 주사는 OMR을 감소시킨 반면 SCH-23390의 주사는 OMR을 증가시켰다. 암-상태에서는 결과가 반대로 나타났다: 즉 dopamine, SKF-38393 및 eticlopride의 주사는 OMR을 증가시킨 반면 SCH-23390의 주사는 OMR을 감소시켰다. 이러한 결과는 망막 세포들 사이의 갭 정션이 금붕어의 동작 감지에 중요한 역할을 담당하고 있음을 시사한다.

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Different Real Time PCR Approaches for the Fine Quantification of SNP's Alleles in DNA Pools: Assays Development, Characterization and Pre-validation

  • Mattarucchi, Elia;Marsoni, Milena;Binelli, Giorgio;Passi, Alberto;Lo Curto, Francesco;Pasquali, Francesco;Porta, Giovanni
    • BMB Reports
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    • 제38권5호
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    • pp.555-562
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    • 2005
  • Single nucleotide polymorphisms (SNPs) are becoming the most common type of markers used in genetic analysis. In the present report a SNP has been chosen to test the applicability of Real Time PCR to discriminate and quantify SNPs alleles on DNA pools. Amplification Refractory Mutation System (ARMS) and Mismatch Amplification Mutation Assay (MAMA) has been applied. Each assay has been pre-validated testing specificity and performances (linearity, PCR efficiency, interference limit, limit of detection, limit of quantification, precision and accuracy). Both the approaches achieve a precise and accurate estimation of the allele frequencies on pooled DNA samples in the range from 5% to 95% and don't require standard curves or calibrators. The lowest measurement that could be significantly distinguished from the background noise has been determined around the 1% for both the approaches, allowing to extend the range of quantifications from 1% to 99%. Furthermore applicability of Real Time PCR assays for general diagnostic purposes is discussed.