• Title/Summary/Keyword: SNP

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

  • Choi, Yong-Sung;Park, Dae-Hee
    • Proceedings of the KIEE Conference
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    • 2004.07c
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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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ALDH and CYP2E1 Single Nucleotide Polymorphism Distribution in Korean

  • Han, Dong-Hoon;Kim, Jeong-Hee
    • International Journal of Oral Biology
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    • v.31 no.3
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    • pp.107-112
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    • 2006
  • Aldehyde dehydrogenase (ALDH) plays an important role in alcohol metabolism; ALDH is responsible for the oxidation of acetaldehyde generated during alcohol oxidation. ALDH is also known to oxidize various other endogenous and exogenous aldehydes. Cytochrome P-450 2E1 (CYP2E1), a liver microsomal enzyme, also metabolizes acetaldehyde and ethanol and can be induced by other inducers including acetone and ethanol. We examined single nucleotide polymorphisms (SNP) of ALDH and CYP2E1 genotypes in Korean. Restriction fragment length polymorphism (RFLP) method was used to determine ALDH and CYP2E1 SNP. Mutation in ALDH was 60% (heterozygote 46.7% and homozygote 13.3%) among 15 cases. CYP2E1 mutation was 52.7% (heterozygote 47.4% and homozygote 5.3%) among 19 cases.

Polymorphisms of KCNE1 Gene in Korean Population

  • Lee, Hyung-Ran;Yoo, Min
    • Biomedical Science Letters
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    • v.14 no.2
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    • pp.123-126
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    • 2008
  • Long QT Syndrome (LQT) is a congenital disease due to the failure of electrical system of the heart. We have analyzed KCNE1 gene which is known to be the cause of Type V LQT in Korean genome. Although SNPs of KCNE1 have been reported for Chinese and Malaysians no data are available for Korean people yet. PCR primers were prepared to investigate the sequences for normal and SNP at G30A, G112A, C162T. They were different only by 3' ends. Genomic DNAs were extracted from the people who were known to be normal clinically (35) or patients (20) with metabolic disease. As results, we were able to recognize several SNPs in these Korean samples. Some people were homozygous or heterozygous depending upon the type of SNP. This study should facilitate the research on the cause of Type VLQTs and to develop the further therapy at genetic level.

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Difference in Haplotype Phasing According to the Use of Quality Information (품질정보의 사용유무에 따른 하플로타입 페이징의 결과 차이)

  • Lee, Jong-Chan;Na, Joong Chae
    • Proceedings of the Korea Information Processing Society Conference
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    • 2017.04a
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    • pp.13-16
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    • 2017
  • 인간 유전자의 SNP 서열 정보를 통해 하플로타입을 추정하는 하플로타입 페이징은 생명공학분야에서 중요한 연구분야이다. 최근에는 SNP 데이터가 많아짐에 따라 많은 하플로타입 페이징 알고리즘들이 제시되었다. 본 논문에서는 SNP 데이터의 오류로 인한 하플로타입 페이징의 한계점과 이를 해결하기 위한 품질정보의 사용에 관한 문제점을 언급한 후 이와 관련된 실험을 통해 품질정보가 하플로타입 페이징의 결과에 미치는 영향을 알아본다. 실험은 기존의 하플로타입 페이징 알고리즘을 사용하여 품질정보의 사용 유무에 따라 하플로타입 페이징 결과를 비교하는 과정으로 진행되었다. 실험 결과 하플로타입 페이징에 과정에서 품질정보를 사용하는 것은 품질정보를 사용하지 않았을 때 보다 좋은 결과를 보여주었다.

SNP과 Haplotype 분석의 통계적 문제점들

  • Kim, Ho;Jo, Seong-Il;Seo, Yu-Sin;Hyeon, Sun-Ju;No, Jae-Jeong;Lee, Bok-Ju
    • Proceedings of the Korean Statistical Society Conference
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    • 2002.11a
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    • pp.203-207
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    • 2002
  • Post-genome 시대를 맞이하여 인류는 전 유전체에서의 염기서열에 대한 정보를 가질 수 있게 되었다. 이러한 정보를 이용하여서 인간에게 나타나는 다양성을 설명하기 위해서 SNP(Single Nucleotide Polymorphism)의 연구가 활발히 되고 있다. 하지만 인간 체세포의 염색체는 2쌍으로 되어있기 때문에 이러한 정보가 어떠한 쌍의 조합(haplotype)으로 나타나는가를 고려하여야한다. 현재 실험적 방법으로 이를 고려하기에는 여러 가지 제약이 따르므로 통계적인 방법으로 이를 모형화하려는 노력(in silico haplotyping)이 시도되고 있다. 이 논문에서는 통계적으로 haplotype을 정하는 대표적인 알고리즘인 Clark's algorithm, E-M algorithm 등에 대한 고찰을 통하여 유전체통계학에 대한 소개를 하고자 한다.

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Identification of Single Nucleotide Polymorphism Markers in the Laccase Gene of Shiitake Mushrooms (Lentinula edodes)

  • Kim, Ki-Hwan;Ka, Kang-Hyeon;Kang, Ji Hyoun;Kim, Sangil;Lee, Jung Won;Jeon, Bong-Kyun;Yun, Jung-Kuk;Park, Sang Rul;Lee, Hyuk Je
    • Mycobiology
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    • v.43 no.1
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    • pp.75-80
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    • 2015
  • We identified single nucleotide polymorphism (SNP) markers in the laccase gene to establish a line-diagnostic system for shiitake mushrooms. A total of 89 fungal isolates representing four lines, including Korean registered, Korean wild type, Chinese, and Japanese lines, were analyzed. The results suggest that SNP markers in the laccase gene can be useful for line typing in shiitake mushrooms.

Effects of Nitric Oxide on the Neuronal Activity of Rat Cerebellar Purkinje Neurons

  • Jang, Su-Joong;Jeong, Han-Soong;Park, Jong-Seong
    • Biomedical Science Letters
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    • v.16 no.4
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    • pp.259-264
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    • 2010
  • This study was designed to investigate the effects of nitric oxide on the neuronal activity of rat cerebellar Purkinje cells. Sprague-Dawley rats aged 14 to 16 days were decapitated under ether anesthesia. After treatment with pronase and thermolysin, the dissociated Purkinje cells were transferred into a chamber on an inverted microscope. Spontaneous action potentials and potassium current were recorded by standard patch-clamp techniques under current and voltage-clamp modes respectively. 15 Purkinje cells revealed excitatory responses to $20\;{\mu}M$ of sodium nitroprusside (SNP) and 4 neurons (20%) did not respond to SNP. Whole potassium currents of Purkinje cells were decreased by SNP (n=10). Whole potassium currents of Purkinje cells were also decreased by L-arginine, substrate of nitric oxide (n=10). These experimental results suggest that nitric oxide increases the neuronal activity of Purkinje cells by altering the resting membrane potential and after hyperpolarization.

Detection of 881A→881G Mutation in Tyrosinase Gene and Associations with the Black Ear Coat Color in Rabbits

  • Jiang, Y.L.;Fan, X.Z.;Lu, Z.X.;Tang, H.;Xu, J.-Q.;Du, L.-X.
    • Asian-Australasian Journal of Animal Sciences
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    • v.15 no.10
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    • pp.1395-1397
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    • 2002
  • The tyrosinase gene was selected as a candidate for uncovering genetic mechanism causing 'black ear' coat color in rabbits. A PCR-SSCP detection method was established for the $881^A{\rightarrow}881^G$ mutation located in the central region of the tyrosinase gene between the CuA and CuB binding region signatures, and this was confirmed by sequencing and alignment. Fully consistent associations between the SNP and 'black ear' coat color were observed by analysis in a "black ear" pedigree and on 61 unrelated individuals. This SNP can serve as a molecular marker for use in "back ear" wool rabbit breeding.

Tetra Primer ARMS PCR Optimization to Detect Single Nucleotide Polymorphisms of the CYP2E1 Gene

  • Suhda, Saihas;Paramita, Dewi Kartikawati;Fachiroh, Jajah
    • Asian Pacific Journal of Cancer Prevention
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    • v.17 no.7
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    • pp.3065-3069
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    • 2016
  • Single nucleotide polymorphism (SNP) detection has been used extensively for genetic association studies of diseases including cancer. For mass, yet accurate and more economic SNP detection we have optimized tetra primer amplification refractory mutation system polymerase chain reaction (ARMS PCR) to detect three SNPs in the cytochrome P450 2E1 (CYP2E1) gene locus; i.e. rs3813865, rs2070672 and rs3813867. The optimization system strategies used were (1) designing inner and outer primers; (2) determining of their optimum primer concentration ratios; and (3) determining of the optimum PCR annealing temperature. The tetra primer ARMS PCR result could be directly observed using agarose gel electrophoresis. The method succesfully determined three SNPs in CYP2E1 locus, the results being consistent with validation using DNA sequencing and restriction fragment length polymorphisms (RFLP).

A Forecasting System for Lung Cancer Sensitivities Using SNP Data

  • Ryoo, Myung-Chun;Kim, Sang-Jin;Park, Chang-Hyeon
    • 한국정보컨버전스학회:학술대회논문집
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    • 2008.06a
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    • pp.191-194
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    • 2008
  • SNP(Single Nucleotide Polymorphism) refers to the difference in a base pair existed in DNAs of individuals. Each of it appears per 1,000 bases in human genome and it enables each gene to defer in junctions, interacts with each other to make different shapes of humans, and produces different disease sensitivities. In this paper, we propose a system to forecast lung cancer sensitivities using SNP data related with the lung cancer. A lung cancer sensitivity forecasting model is also constructed through analysis of genetic and non-genetic factors for squamous cell carcinomas, adeno carcinomas, and small cell carcinomas that may frequently appear in Korean. The proposed system with the model gives the probabilities of the onset of lung cancers in the experimental subjects.

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