• Title/Summary/Keyword: 유의적 유전자

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Effect of Glutathione S-Transferase Polymorphisms on the Antioxidant System (Glutathione S-Transferase 유전적 다형성이 항산화 체계에 미치는 영향)

  • Jeon, Gyeong-Im;Park, Eun-Ju
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.36 no.6
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    • pp.708-719
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    • 2007
  • Glutathione S-transferase genotypes GSTT1, GSTM1 and GSTP1 were characterized in 104 healthy male and female subjects and compared with parameters of oxidative stress at the level of DNA and lipids, with antioxidant enzymes, and with plasma antioxidants in smokers and non.smokers. Of the 104 subjects studied, 57.4% were GSTT1 present and 47.6% were GSTM1 present. The GSTP1 polymorphisms a and b were represented as follows: a/a, 75.5%; a/b, 21.6%; b/b type, 2.9%. The GSTT1 null genotype was associated with decreased glutathione in erythrocytes and elevated lymphocytes DNA damage. GST-Px was higher in GSTT1 null compared with GSTT1 present type. The homozygous GSTP1 genotype was not associated with any antioxidant status or DNA damage. The difference in plasma ${\alpha}$-carotene and erythrocytes GSH-Px and GST activities between smokers and non-smokers was detected in the GSTT1 null genotype. Plasma ${\gamma}$-tocopherol and ${\beta}$-carotene decreased significantly in smokers having GSTM1 null genotype. When GSTT1 and GSTM1 were combined, plasma lycopene and erythrocyte GST were reduced in smokers in both null types of these genes. As for GSTP1 genotype, plasma ${\alpha}$-carotene and erythrocytes GSH-Px decreased significantly in smokers with GSTP1 b/b, while erythrocytes GSH-Px activities decreased in smokers with GSTP1 a/b. The different ${\beta}$-carotene level between smokers and non-smokers was seen with both GSTP1 a/a and a/b genotype. It seems that polymorphisms in the phase II metabolizing enzyme glutathione S-transferase may be important determinants of commonly measured biomarkers.

Hotelling의 T$^{2}$ 통계량을 이용한 cDNA 마이크로어레이 분석

  • Kim, Byeong-Su;Lee, Seon-Ho;Kim, In-Yeong;Kim, Sang-Cheol;Ra, Seon-Yeong;Jeong, Hyeon-Cheol
    • Proceedings of the Korean Statistical Society Conference
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    • 2003.05a
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    • pp.295-297
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    • 2003
  • 본 논의에서는 cDNA 마이크로어레이 분석에서 다변량 분석의 한 방법인 Hotelling의 T제곱 통계량을 이용하여 유의적 유전자군을 검색하고, 이 유전자군을 사용하여 검사자료를 두군으로 분류하는데 단변량 t통계량에 기초한 접근보다 얼마나 효율적인지를 평가하고자 한다.

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An analysis of microarray gene expression using FST (FST를 이용한 마이크로어레이 유전자발현에 관한 해석)

  • Choe, Gyeong-Ok;Jeong, Hwan-Muk
    • Proceedings of the Korean Institute of Intelligent Systems Conference
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    • 2007.04a
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    • pp.77-80
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    • 2007
  • 현재 생명공학은 급속도로 발전하고 있으며, 이를 통해 만들어지는 생물정보의 양은 기하급수적으로 늘어나고 있다. 이러한 것을 가능하게 하는 기술 중의 하나인 마이크로어레이 기법은 현재 질병의 진단 및 신약 개발 등을 위해 사용되고 있다. 마이크로어레이 유전자 발현에 관한 분석은 크게 유의한 유전자 추출, 클러스터링, 분류 및 유전자 네트워크 구축 등으로 볼 수 있다. 유의한 유전자 식별을 위한 통계학적 방법으로 T-test 및 Wilcoxon Rank Sum test 등이 있다. 최근에는 수정인자를 추가하거나 혹은 퍼지이론 등의 지능정보 이론을 추가하여 그 계산결과를 좀 더 상세화하고 세분화하는 연구들이 계속되고 있다. 본 논문에서는 두 개의 그룹에서 발현된 유전자들 중 유의하게 발현되는 유전자를 식별하기 위한 방법으로 퍼지이론을 도입하여 유의한 유전자를 규명하는 FST(Fuzzy Significance Test) 방법을 제안한다.

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근육 및 지방세포를 분화 관련 유전자의 DNA Marker가 한우의 도체특성 및 육질에 미치는 영향

  • Jeong, Gu-Yong;Kim, U-Tae;Sin, Seong-Cheol;Jeong, Ui-Ryong
    • Proceedings of the Korean Society for Food Science of Animal Resources Conference
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    • 2004.10a
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    • pp.132-136
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    • 2004
  • 본 연구는 근육 및 지방세포 분화에 관여하는 leptin, MYF5 및 H-FABP의 3개 기능성 후보 유전자가 한우의 도체특성 및 육질에 미치는 영향을 분석하기 위하여 이들 유전자의 PCR-RFLP marker와 도체형질과의 관련성을 분석하였다. Leptin, MYF5 및 H-FABP 유전자에서 AA, AB 및 BB 3종류의 RFLP 유전자형이 각각 검출되었고 A와 B 대립유전자 빈도는 각각 0.57과 0.43, 0.61과 0.39 그리고 0.90과 0.10으로 추정되었다. 육질 등급에 따라 고급육과 저급육으로 분리 선발한 두 그룹간의 대립유전자 출현빈도를 비교한 결과 leptin과 MYF5 유전자에서 각각 통계적 유의차(P< .05)가 인정되었다. 또한 각 후보유전자의 RFLP marker 유전자형이 도체형질에 미치는 효과를 분석한 결과 leptin 유전자는 등지방 두께 그리고 MYF5유전자는 배장근 단면적에 각각 유의적인 영향(P< .05)을 미치는 것으로 분석되었다. 그러나 H-FABP 유전자는 도체형질들과 유의성이 인정되지 않았다. 따라서, leptin과 MYF5 유전자는 한우의 도체특성 및 육질 개선을 위한 DNA marker로 이용 가능할 것으로 사료된다.

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Association Study Between the C3123A Polymorphism of the Angiotensin II Type 2 Receptor Gene in the Human X Chromosome and Essential Hypertension in Koreans (한국인에서 Angiotensin II Type 2 Receptor 유전자에 존재하는 C3123A 다형선과 본태성 고혈압과의 관련성에 관한 연구)

  • Kang Byung Yong;Bae Joon Seol;Lee Kang Oh
    • Environmental Analysis Health and Toxicology
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    • v.20 no.1
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    • pp.39-45
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    • 2005
  • Renin-angiotensin system (RAS)은 혈압 조절에 중요한 역할을 수행하는 생리적 조절계로써, 이 system 을 구성하는 유전자들의 이상은 본태성 고혈압의 발병과 유의하게 관련된 것으로 알려졌다. RAS의 주요한 구성 성분인 angiotensin II는 2종류의 수용체인 angiotensin II type I receptor(AT₁R)와 angiotensin II type I receptor(AT₂R)에 의해 그 효과가 매개되기 때문에, 이 수용체를 암호하는 유전자는 본태성 고혈압의 유력한 후보 유전자라고 볼 수 있다. 현재가지의 연구에 의하면, AT₁R 유전자에 존재하는 유전적 변이와 본태성 고혈압과의 관련성에 관해서는 많은 보고들이 있었지만, AT₂R 유전자에 존재하는 유전적 변이 가 본태성 고혈압에 유의한 효과를 나타내는 지에 관해서는 이렇다할 연구 성과가 별로 없는 실정이다. 이에 본 연구에서는 한국인 집단을 대상으로 하여, AT₂R 유전자에 존재하는 C3123A 다형성이 한국인 집단에서 본태성 고혈압과 유의한 관련성이 있는 지를 분석하였다. 이 유전자는 인간의 X 염색체에 존재하기 때문에, 여성인 경우에는 CC, CA및 AA로 이루어진 3유전자형이 존재하지만, 남성인 경우에는 C와 A로 이루어진 2종류의 대립 유전자로 구성되어 있기 때문에, 본 연구에서는 남성과 여성을 개별적으로 나누어서 분석하였다. 연구 결과, AT₂R 유전자에 존재하는 C3123A 다형성은 남녀 모두에서 본태성 고혈압과 유의한 관련성을 나타내지 않았다(P>0.05). 그렇지만, 이 다형성에 대한 대립 유전자 빈도를 서양인 집단과 비교했을 경우에는, 한국인을 대상으로 한 본 연구에서 A 대립 유전자 빈도가 0.33인 반면에 서양인 집단은 그 빈도가 0.43~0.48로 한국인 집단보다 높은 값을 나타내었다. 따라서, AT₂R 유전자에 존재하는 C3123A 다형성과 본태성 고혈압과의 관련성에 대해서는 한국인과 유전적 배경이 다른 서양인 집단을 대상으로 한 추시가 필요할 것으로 사료된다.

A Comparative Study of Parametric Methods for Significant Gene Set Identification Depending on Various Expression Metrics (유전자 발현 메트릭에 기반한 모수적 방식의 유의 유전자 집합 검출 비교 연구)

  • Kim, Jae-Young;Shin, Mi-Young
    • Journal of KIISE:Software and Applications
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    • v.37 no.1
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    • pp.1-8
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    • 2010
  • Recently lots of attention has been paid to gene set analysis for identifying differentially expressed gene-sets between two sample groups. Unlike earlier approaches, the gene set analysis enables us to find significant gene-sets along with their functional characteristics. For this reason, various novel approaches have been suggested lately for gene set analysis. As one of such, PAGE is a parametric approach that employs average difference (AD) as an expression metric to quantify expression differences between two sample groups and assumes that the distribution of gene scores is normal. This approach is preferred to non-parametric approach because of more effective performance. However, the metric AD does not reflect either gene expression intensities or variances over samples in calculating gene scores. Thus, in this paper, we investigate the usefulness of several other expression metrics for parametric gene-set analysis, which consider actual expression intensities of genes or their expression variances over samples. For this purpose, we examined three expression metrics, WAD (weighted average difference), FC (Fisher's criterion), and Abs_SNR (Absolute value of signal-to-noise ratio) for parametric gene set analysis and evaluated their experimental results.

Potential Allelic Association of Microsatellite Markers on Bovine Chromosome 5 with Carcass Traits in Hanwoo (Korean cattle) (Microsatellite 의 대립유전자 빈도를 이용한 한우의 경제형질과의 연관성 규명)

  • Oh, Jae-Don;Kong, Hong-Sik;Cho, Byung-Wook;Lee, Mi-Rang;Jeon, Gwang-Joo;Lee, Hak-Kyo
    • Journal of Life Science
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    • v.18 no.9
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    • pp.1225-1229
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    • 2008
  • A total of 10 polymorphic microsatellite markers on bovine chromosome 5 were used for allelic association tests with phenotypic characteristics in Hanwoo. The data analyzed in this study were collected from 326 steers. Chi-square tests were performed to compare the frequencies of individual alleles between the high and the low breeding value groups. The following breeding values were analyzed for QTL effects. The frequency of allele 239 of DIK2828 showed a significant difference between the high and the low breeding value groups in the breeding value of marbling score (MSBV). The allele 279 of BMC1009 was found to show significant differences in allelic distribution for the breeding value of cold carcass weight (CWBV) and the breeding value of backfat thickness (BFBV) and allele 285 showed significant differences in allelic distribution for CWBV, BFBV, and MSBV. The allele 200 of DIK4329 showed significant differences in allelic distributions for the breeding values of longissimus muscle area (LMABV) and BFBV. In this study, we identified the QTL for carcass traits at around 20 (DIK2828), 41 (BMC1009) and 95 (DIK4329) cM in chromosome 5. The results provided a useful reference for further positional candidate gene research and marker-assisted selection for fat metabolism and carcass traits.

A study on alternatives to the permutation test in gene-set analysis (유전자집합분석에서 순열검정의 대안)

  • Lee, Sunho
    • The Korean Journal of Applied Statistics
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    • v.31 no.2
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    • pp.241-251
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    • 2018
  • The analysis of gene sets in microarray has advantages in interpreting biological functions and increasing statistical powers. Many statistical methods have been proposed for detecting significant gene sets that show relations between genes and phenotypes, but there is no consensus about which is the best to perform gene sets analysis and permutation based tests are considered as standard tools. When many gene sets are tested simultaneously, a large number of random permutations are needed for multiple testing with a high computational cost. In this paper, several parametric approximations are considered as alternatives of the permutation distribution and the moment based gene set test has shown the best performance for providing p-values of the permutation test closely and quickly on a general framework.

Effects of β3-Adrenergic Receptor Polymorphism on the Hyperglycemia in Korean Subjects (베타 3-아드레날린 수용체의 유전자형이 고혈당증 유발에 미치는 영향)

  • 오현희;최선미;양현성;김길수;윤유식
    • Journal of the Korean Society of Food Science and Nutrition
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    • v.33 no.1
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    • pp.83-90
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    • 2004
  • This study was conducted to examine the effects of $\beta$3-adrenergic receptor polymorphism on the blood glucose level and obesity in 530 volunteers, who attended a weight loss program in a local obesity clinic. The age differences in total subjects and the distribution of male and female were 26.55$\pm$0.31 yr, 9.1% (n=48), 90.9% (n=492). The genotype distribution of $\beta$3-AR gene polymorphism were WW type 75%, WR type 22% and RR type 3%. Among many parameters, fasting blood glucose was significantly higher in WR+RR type (p=0.001) compared with WW type. When the subjects were divided into two groups by 6.105 mmol/L of the fasting blood glucose level, the frequency of hyperglycemia was 23.3% in WW type subjects, while there was a increase to 35.6% in WR+RR type subjects (p=0.011, $\chi$$^2$-analysis). When hyperglycemia group was compared with normoglycemia group, obesity index (p=0.044), %body fat (p=0.046) and TG (p=0.000) were significantly higher, and HDL (p=0.006) was significantly lower in the hyperglycemia. When all of the above factors were included in stepwise logistic regression analysis to find risk factors of hyperglycemia, the results were that the odds ratio for hyperglycemia were 2.015 (p=0.011) for WR+RR type of $\beta$3-AR gene, 2.165 (p=0.000) for TG and 0.419 (p=0.059) for HDL cholesterol. There was a significantly positive correlation between the blood glucose vs BMI, WHR, body fat in the WW type (r=0.099, 0.119, 0.082) However, in the WR and RR type there were no significance between the blood glucose vs BMI, WHR, body fat. These data suggest that the WR+RR genotype of $\beta$3-AR has a very strong association with increased blood glucose level and might be a significant risk factor for hyperglycemia among Korean subjects.

A Novel SNP in the Exon 8 Region of the CLMN Gene and Its Association with Marbling Score in Hanwoo (한우 CLMN 유전자 exon 8번 영역의 신규 단일염기다형과 근내지방도의 연관성에 관한 연구)

  • Shin, Sung-Chul;Chung, Eui-Ryong
    • Journal of Life Science
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    • v.29 no.12
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    • pp.1314-1320
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    • 2019
  • This study aimed to identify single nucleotide polymorphisms in exon 8 region of the calmin (CLMN) gene and to evaluate their associations with meat yield and quality traits in Hanwoo (Korean cattle). We compared gene expression pattern of CLMN between high and low marbling score groups with extremely different intramuscular fat content of the longissimus lumborum muscles in Hanwoo. The CLMN gene was highly expressed in the high marbling score group. Total of nine SNPs were identified in the exon 8 region of CLMN gene, genotyping of the SNPs was carried out using direct-sequencing analysis in Hanwoo population (n=300) to evaluate their association with meat yield and quality traits. As a result, g.23249G>C in exon 8 was significantly associated with marbling score. Animals with the CC and GC genotypes had higher marbling score than those with the GG genotype. We constructed haplotypes of CLMN gene by linkage disequilibrium analysis and analyzed association between haplotypes and meat yield and quality traits. Haplotype of CLMN gene was associated with marbling score. As a result, animals with the CC-CC haplotype (g.23249G>C and g.23465T>C SNPs) had higher marbling score than those with CT and GT haplotypes. These findings suggest that the SNPs of bovine CLMN gene may be a useful molecular marker for selection of meat quality traits in Hanwoo.