• 제목/요약/키워드: Nucleotide Polymorphism

검색결과 959건 처리시간 0.024초

사상체질의 유전적 다형성 연구 - MTHFR의 단일염기다형성을 중심으로 - (Research of genetic polymorphisms of Sasang Constitution - focusing on SNP of MTHFR gene -)

  • 송일병;이수경
    • 사상체질면역의학회지
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    • 제13권2호
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    • pp.177-181
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    • 2001
  • Sasang Constitutional Medicine is based on the diversity of Human being and medically developed the response variation to diseases and medicines. The diversity is categorized as four from physiology, pathology, symptoms, to therapy. So that is related the difference of individual characteristics in Western Science. Single nucleotide polymorphism is the basic tool to research genetic polymorphisms. We researched the polymorphism site of MTHFR gene on 1p36.3, which is relatively reported the occlusive vascular disease. In the clinical research of brain infarction, the occurrence was different according to constitution. The 677C/T Polymorphism site of MTHFR was not significantly different in constitution group. But this research was the first trial about the single nucleotide polymorphism according to constitution. The more researchs of many genes are necessary to find the characteristics of constitution.

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Genetic association study of a single nucleotide polymorphism of kallikrein-related peptidase 2 with male infertility

  • Lee, Sun-Hee;Lee, Su-Man
    • Clinical and Experimental Reproductive Medicine
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    • 제38권1호
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    • pp.6-9
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    • 2011
  • Objective: To investigate a kallikrein-related peptidase 2 (KLK2) single nucleotide polymorphism (SNP) in relation to male infertility because of its role in semen processing. We investigated the genetic association of the KLK2+255G>A genotype with male infertility. Methods: We genotyped the SNP site located in intron 1 (+255G>A, rs2664155) of KLK2 from 218 men with male infertility (cases) and 220 fertile males (controls). Pyrosequencing analysis was performed for the genotyping. Results: The SNP of the KLK2 gene had a statistically significant association with male infertility (p<0.05). The odds ratio for the minor allele (+255A) in the pooled sample was 0.47 (95% confidence intervals, 0.26-0.85) for rs2664155. Conclusion: The relationship of KLK2 SNP to male infertility is statistically significant, especially within the non-azoospermia group. Further study is needed to understand the mechanisms associated with male infertility.

MitGEN: Single Nucleotide Polymorphism DB Browser for Human Mitochondrial Genome

  • Park, Hyun Seok;Lee, Seung Uk
    • Genomics & Informatics
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    • 제2권3호
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    • pp.147-148
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    • 2004
  • Recently completed mitochondrial genome databses from public resources provide us with a better understanding of individual mitochondrial genomes for population genomics. By determining the substitution rate of the genomic sequences, it is plausible to derive dates on the phylogenetic tree and build a chronology of events in the evolution of human species. MitGEN is specially designed as a mitochondrial genome browser for analyzing, comparing and visualizing single nucleotide polymorphism for human mitochondrial genomes between human races for comparative genomics. It is a standalone application and is available free for non-commercial work.

비수식화 DNA를 이용한 SNP의 검출 (SNP (Single Nucleotide Polymorphism) Detection Using Indicator-free DNA)

  • 최용성;박대희;권영수
    • 한국전기전자재료학회:학술대회논문집
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    • 한국전기전자재료학회 2003년도 추계학술대회 논문집 Vol.16
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    • pp.224-226
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    • 2003
  • In this paper, we succeeded SNP discrimination of DNA hybridization on microarray using new electrochemical system. Using the electrochemical method with a label-free DNA has Performed DNA chip microarray. This method is based on redox of an electrochemical ligand. We developed scanning system with high performance.

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MMP1 rs1799750 Single Nucleotide Polymorphism and Lung Cancer Risk: A Meta-analysis

  • Hu, Jiang;Pan, Jun;Luo, Zhi-Guo
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권12호
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    • pp.5981-5984
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    • 2012
  • Background: Numerous studies have investigated the association of matrix metalloproteinase 1 (MMP1) rs1799750 single nucleotide polymorphism with lung cancer susceptibility, but the findings are inconsistent. Therefore, we performed a meta-analysis to comprehensively evaluate any possible association. Methods: We searched publications from MEDLINE, EMBASE and CNKI databases which assessed links between the MMP1 rs1799750 polymorphism and lung cancer risk. We calculated the pooled odds ratio (OR) and its 95% confidence interval (95%CI) using either fixed-effects or random-effects models. Results: The meta-analysis was based on 9 publications encompassing 4,823 cases and 4,298 controls. The overall results suggested there was a significant association between the MMP1 rs1799750 polymorphism and lung cancer risk (1G vs. 2G: OR = 0.83, 95%CI = 0.73-0.94; 1G1G vs. 2G2G: OR = 0.73, 95%CI = 0.59-0.92; 1G1G vs. 1G2G/2G2G: OR = 0.87, 95%CI = 0.79-0.97; 1G1G/1G2G vs. 2G2G: OR = 0.78, 95%CI = 0.64-0.95). In the subgroup analysis by ethnicity, the association was still obvious in Asians (all P values < 0.05), but there was no association in Caucasians (all P values > 0.05). Conclusions: The MMP1 rs1799750 polymorphism is associated with decreased lung cancer risk, and a race-specific effect may exist in this association.

Single Nucleotide Polymorphism(SNP) 데이타와 Support Vector Machine(SVM)을 이용한 만성 간염 감수성 예측 (Prediction of Chronic Hepatitis Susceptibility using Single Nucleotide Polymorphism Data and Support Vector Machine)

  • 김동회;엄상용;함기백;김진
    • 한국정보과학회논문지:시스템및이론
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    • 제34권7호
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    • pp.276-281
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    • 2007
  • 본 논문에서는 한국인의 대표질환 중 하나인 만성 간염에 대한 질환 감수성을 예측하기 위해서 Single Nucleotide Polymorphism 데이타와 대표적인 기계학습 기술인 Support Vector Machine을 이용하였다. 실험을 위한 데이타로 만성간염 환자 173명과 정상인 155명의 SNP 데이타를 사용하였으며, 평가를 위한 방법으로는 Leave-One-Out Cross Valication을 사용하였다. 실험결과 SNP 데이터만으로는 67.1%의 예측 결과를 얻었으며 기본적인 건강요소인 나이와 성별을 특징요소로 사용함으로서 74.9%의 예측 결과를 보였다. 향후 보다 많은 SNP 데이타와 건강관련정보 그리고 생활패턴에 대한 요소들을 특징요소로 감수성 예측에 함께 사용한다면, SVM은 만성 간염 예측을 위한 보다 효과적인 도구가 될 것이다.

Fast Microchip Electrophoresis Using Field Strength Gradients for Single Nucleotide Polymorphism Identification of Cattle Breeds

  • Oh, Doo-Ri;Cheong, Il-Cheong;Lee, Hee-Gu;Eo, Seong-Kug;Kang, Seong-Ho
    • Bulletin of the Korean Chemical Society
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    • 제31권7호
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    • pp.1902-1906
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    • 2010
  • A microchip electrophoresis (ME) method was developed using a programmed field strength gradients (PFSG) for the single nucleotide polymorphism (SNP) based fast identification of cattle breeds. Four different Korean cattle (Hanwoo) and Holstein SNP markers amplified by allele-specific polymerase chain reaction were separated in a glass microchip filled with 0.5% poly(ethyleneoxide) ($M_r$ = 8 000 000) by PFSG as follows: 750 V/cm for 0 - 14 s, 166.7 V/cm for 14 - 31 s, 83.3 V/cm for 31 - 46 s, and 750 V/cm for 46 - 100 s. The cattle breeds were clearly distinguished within 45 s. The ME-PFSG method was 7 times and 5 times faster than the constant electric field ME method and the capillary electrophoresis- PFSG method, respectively, with a high resolving power ($R_s$ = 5.05 - 9.98). The proposed methodology could be a powerful tool for the fast and simultaneous determination of SNP markers for various cattle breeds with high accuracy.

Single Nucleotide Polymorphism in the Promoter Region of H1 Histone Family Member N, Testis-specific (H1FNT) and Its Association Study with Male Infertility

  • Yang, Seung-Hee;Lee, Jin-U;Lee, Su-Man
    • Genomics & Informatics
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    • 제8권4호
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    • pp.201-205
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    • 2010
  • The H1 histone family, member N, testis-specific (H1FNT) is exclusively expressed in the testis, and had its possible role for sperm chromatin formation. The purpose of this study is to investigate any genetic association of H1FNT gene with male infertility, especially at the promoter region. We examined the promoter single nucleotide polymorphisms (SNP) of H1FNT gene which is located within transcription factor binding site for its association with male infertility. The statistical analysis showed that the -1129A>T polymorphism was present at a statistically significance in male infertility (p=0.0059 and 0.0349 for hetero and risk type, respectively). The dual-luciferase promoter assay was performed to examine the polymorphic effect of this promoter SNP by the cloning of promoter region (1700bp fragment) into pGL3-basic vector. In our plasmid based reporter system, there is no big difference between wild and risk type. In conclusion, H1FNT -1129A>T promoter SNP is statistically significant with male infertility, especially with subfertile (non-azoospermia) group. Further analysis of its functional polymorphic effect in vivo may provide the biological significance of testis-specific histone with spermatogenesis.