• 제목/요약/키워드: Protein polymorphism

검색결과 358건 처리시간 0.021초

BLOOD PROTEIN POLYMORPHISMS OF NATIVE AND JUNGLE FOWLS IN INDONESIA

  • Hashiguchi, T.;Nishida, T.;Hayashi, Y.;Maeda, Y.;Mansjoer, S.S.
    • Asian-Australasian Journal of Animal Sciences
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    • 제6권1호
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    • pp.27-35
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    • 1993
  • In an attempt to reveal the interrelationship between fowls of jungle and native origin, their gene constitutions were compared using gene frequencies at the 16 loci controlling blood protein variations. Of the 16 loci analysed by electrophoresis, polymorphism was detected at following seven loci: Es-1, Amy-1, Akp-akp, Akp-2, Alb, Tf and 6-PGD. The other nine loci: Amy-3, Es-D, PGM, PHI, MDH, To, LDH, Hb-1 and Hb-2, were noted to be monomorphic. Genetic distance between pairs of native fowl and jungle fowls was estimated by a numerical taxonomic method. The Indonesian native fowl was genetically close to the Indonesian red jungle fowl, and the grey jungle fowl was genetically similar to the Ceylonese jungle fowl. It was also suggested that the green jungle fowl was genetically remote from the other jungle fowls and from the Indonesian native flow. The proportion of polymorphic loci (Ppoly), the expected average heterozygosity per individual $\bar{H}$, and the effective number of alleles per locus (Ne) were calculated to evaluate the genetic variabilities in the native and jungle fowls. The Indonesian native fowl exhibited slightly higher the proportion of polymorphic loci than the jungle fowls.

Association between PCR-RFLP Polymorphisms of Five Gene Loci and Milk Traits in Chinese Holstein

  • Zhang, R.F.;Chen, H.;Lei, C.Z.;Fang, X.T.;Zhang, Y.D.;Hu, S.R.;Su, L.H.
    • Asian-Australasian Journal of Animal Sciences
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    • 제20권2호
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    • pp.166-171
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    • 2007
  • The objective of this study was to assess the association of polymorphisms in ${\kappa}$-cn, ${\beta}$-lg, ${\beta}$-lg 5′ flanking region, CSN1S2, and IGFBP-3 genes with milk production traits and mastitis-related traits in Chinese Holstein. Traits analyzed were 305 day standard milk yield, protein percentage, fat percentage, the ratio of fat percentage and protein percentage, pre-somatic cell count, somatic cell count, and somatic cell score, respectively. CSN1S2 locus was uninformative because only one genotype BB was found in Chinese Holstein. Allele frequencies of A and B in IGFBP-3 gene were 0.5738 and 0.4262 in Chinese Holstein population, which was different from reported Qinchuan cattle population. The genotypes of animals at IGFBP-3 locus significantly affected 305 day standard milk yield, protein percentage, and somatic cell score. The ${\beta}$-lg genotypes had a significant effect on protein percentage and the ratio of fat percentage and protein percentage. Polymorphism in ${\beta}$-lg 5′ flanking region was associated with 305 day standard milk yield, protein percentage, fat percentage, pre-somatic cell count, and somatic cell count. No significant associations of the polymorphism in ${\kappa}$-cn gene were observed for any trait.

Association of Clusterin Polymorphisms with Coronary Heart Disease in Koreans

  • ;;;유민
    • 대한의생명과학회지
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    • 제14권1호
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    • pp.55-58
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    • 2008
  • Clusterin is an 80 kDa heterodimetric glycosylated protein and it plays diverse biological roles in various tissues and organs. Clusterin is reported to be associated with the pathogenesis of coronary artery disease and atherosclerosis. Therefore, we investigated the genotype for the A/G polymorphism at the position 4,183 of clusterin gene in Koreans and compared genotype of patients with control group. 100 patients (Male 63, Female 37), who previously underwent coronary artery stent due to ischemic heart disease and 100 controls (Male 36, Female 64) participated in this study. There was a significant association between 4,183 A/G polymorphism in clusterin gene and coronary artery disease (CAD). The present study shows that clusterin gene A/G polymorphism may be associated with the pathogenesis of CAD. Further studies with larger population may be needed for the development of diagnostic methods at genetic level such as DNA chip.

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An Overview of Matrix Metalloproteinase 9 Polymorphism and Gastric Cancer Risk

  • Verma, Sugreev;Kesh, Kousik;Gupta, Arnab;Swarnakar, Snehasikta
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권17호
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    • pp.7393-7400
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    • 2015
  • Matrix metalloproteinase (MMP) 9, a key member of multifunctional family of zinc dependent endopeptidases has been found to be upregulated during inflammation and in some cancers. MMPs cleave extracellular matrix (ECM) proteins and play critical roles in cellular apoptosis, angiogenesis, tumor growth and metastasis. Several genetic polymorphisms have been identified that show allele specific effects on MMP9 regulation and are associated with gastric cancer, the fourth most common malignancy in the world. Besides Helicobacter pylori infection, genetic predisposition is another documented risk factor for gastric carcinoma. The single nucleotide polymorphism (SNP) at position -1562C/T of MMP9 results in the modulation for binding of transcription factors to the MMP9 gene promoter and thereby causes differences in protein expression and enzymatic activity. MMP9 transcriptional regulation during gastric cancer development remains poorly known although several studies have demonstrated associations between MMP9 -1562 C/T polymorphism with different diseases. Knowledge on mechanisms of MMP9 upregulation during gastric cancer may provide new paradigm in diagnostics and therapeutics.

Polymorphism of Growth Hormone GH1-AluI in Jersey Cows and Its Effect on Milk Yield and Composition

  • Dario, C.;Carnicella, D.;Ciotola, F.;Peretti, V.;Bufano, G.
    • Asian-Australasian Journal of Animal Sciences
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    • 제21권1호
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    • pp.1-5
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    • 2008
  • To analyze genetic effects on milk production traits, 164 unrelated Italian Jersey cows reared in 15 farms located in Southern Italy were characterized at the growth hormone locus. Using a Polymerase Chain Reaction-Restriction Fragment Length Polymorphism protocol all three possible genotypes for the Leucine/Valine polymorphism were identified even if in the considered population the number of homozygous animals (Leucine/Leucine = 36; Valine/Valine = 28) was smaller than Leucine/Valine (n = 100) cows; the Hardy-Weinberg equilibrium was verified. Statistical analysis showed that daily milk yield in the Leucine/Leucine genotype was higher (p<0.01) than in Leucine/Valine (22.76 kg vs. 16.96 kg ); cows with Leucine/Valine genotype differed significantly from Leucine/Leucine and Valine/Valine genotypes particularly in fat (4.95% vs. 4.13% and 4.82%, respectively) and protein content (4.00% vs. 3.47% and 3.79%, respectively). No significant effect on lactation length was observed.

Association between Histone Deacetylase 9 Gene Polymorphism and Stroke in Chinese Han Population

  • Yang, Xitong;Xu, Hongyang;Liu, Dan;Ma, Rong;Zhang, Yuanyuan;Wang, Guangming
    • Journal of Korean Neurosurgical Society
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    • 제64권2호
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    • pp.309-315
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    • 2021
  • Objective : To explore the correlation between the polymorphism of histone deacetylase 9 gene (rs1060499865, rs723296, rs957960) and ischemic stroke (IS) in Chinese Han population in Dali region. Methods : This study included 155 IS patients and 128 healthy physical examinees. TaqMan-polymerase chain reaction technology and multivariate logistic regression were performed. Results : In the case group, there was no polymorphism of rs1060499865 observed in the two groups; whereas on the rs723296 locus the frequencies of C allele and TC genotype were significantly higher than that in the control group, alleles C and T were associated with a 2.158-fold increase in IS risk, and genotypes TC and TT were associated with a 2.269-fold increase in IS risk. The locus rs957960 exhibited no significant difference between the two groups. Conclusion : An association between rs723296 and the risk of IS was found in the Chinese Han population in Dali region. No significant association was found between rs1060499865, rs957960 and IS in the Chinese Han population in Dali region.

Association of the XRCC1 c.1178G>A Genetic Polymorphism with Lung Cancer Risk in Chinese

  • Wang, Lei;Lin, Yong;Qi, Cong-Cong;Sheng, Bao-Wei;Fu, Tian
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권9호
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    • pp.4095-4099
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    • 2014
  • The X-ray repair cross-complementing group 1 protein (XRCC1) plays important roles in the DNA base excision repair pathway which may influence the development of lung cancer. This study aimed to evaluate the potential association of the XRCC1 c.1178G>A genetic polymorphism with lung cancer risk. The created restriction site-polymerase chain reaction (CRS-PCR) and DNA sequencing methods were utilized to evaluate the XRCC1 c.1178G>A genetic polymorphism among 376 lung cancer patients and 379 controls. Associations between the genetic polymorphism and lung cancer risk were determined with an unconditional logistic regression model. Our data suggested that the distribution of allele and genotype in lung cancer patients was significantly different from that of controls. The XRCC1 c.1178G>A genetic polymorphism was associated with an increased risk of lung cancer (AA vs GG: OR=2.91, 95%CI 1.70-4.98, p<0.001; A vs G: OR=1.52, 95%CI 1.22-1.90, p<0.001). The allele A and genotype AA may contribute to risk of lung cancer. These preliminary results suggested that the XRCC1 c.1178G>A genetic polymorphism is statistically associated with lung cancer risk in the Chinese population.

Association of the -2518 A/G Polymorphism of MCP-1 with Breast Cancer in Punjab, North-West India

  • Sambyal, Vasudha;Guleria, Kamlesh;Kapahi, Ruhi;Manjari, Mridu;Sudan, Meena;Uppal, Manjit Singh;Singh, Neeti Rajan
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권16호
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    • pp.7243-7248
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    • 2015
  • Background: Monocyte chemoattractant protein-1 (MCP-1) is a major chemokine thought to be responsible for monocyte and T-lymphocyte recruitment in acute inflammatory conditions and recruitment of macrophages in tumors. It is also implicated in cardiovascular disease, rheumatoid arthritis and chronic obstructive pulmonary disease. The aim of the present study was to investigate the correlation between MCP-1 -2518 A/G polymorphism and breast cancer risk in patients from Amritsar city of Punjab state in North-West India. Materials and Methods: We screened DNA samples of 200 sporadic breast cancer patients and 200 age and gender matched unrelated healthy individuals for MCP-1 -2518 A/G polymorphism using the PCR-RFLP method. Results: A significantly increased frequency of the GG genotype was observed in patients as compared to controls. Individuals carrying the MCP1 -2518GG genotype had a two fold risk for breast cancer (OR=2.06, 95%CI, 1.06-3.98; p=0.03). Genetic models analysis revealed a significant association between MCP-1 -2518 A/G polymorphism and cancer risk in homozygous co-dominant (OR=2.06, 95%CI, 1.06-3.98; p=0.03) and recessive (OR=1.97, 95%CI, 1.05-3.70; p=0.03) models. Conclusions: We conclude that the GG genotype of the MCP-1-2518 A/G polymorphism is associated with increased risk to breast cancer in Punjab, North-West India.

Association between the XRCC3 Thr241Met Polymorphism and Gastrointestinal Cancer Risk: A Meta-Analysis

  • Sahami-Fard, Mohammad Hossein;Mayali, Ali Reza Mousa;Tajehmiri, Ahmad
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권10호
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    • pp.4599-4608
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    • 2016
  • Background: The x-ray repair cross-complementing group 3 (XRCC3) encodes a protein involved in the homologous recombination repair (HRR) pathway for double-strand DNA repair. Associations of the XRCC3 Thr241Met polymorphism with various cancers have been widely reported. However, published data on links between XRCC3 Thr241Met and gastrointestinal (GI) cancer risk are inconsistent. Objective and Methods: A meta-analysis was conducted to characterize the relationship between XRCC3 Thr241Met polymorphisms and GI cancer risk. Pooled odds ratios (ORs) and 95.0% confidence intervals were assessed using random- or fixed- effect models for 28.0 relevant articles with 30.0 studies containing 7,649.0 cases and 11,123.0 controls. Results: The results of the overall meta-analysis suggested a borderline association between the XRCC3 Thr241Met polymorphism and GI cancer susceptibility (T vs. C: OR=1.18, 9 % CI=1.0-1.4, POR=0.04; TT vs. CT+CC: OR=1.3, 95 % CI=1.0-1.6, POR=0.04). After removing studies not conforming to Hardy-Weinberg equilibrium (HWE), however, this association disappeared (T vs. C: OR=1.00, 95 % CI=0.9-1.1, POR=0.96; TT vs. CT+CC: OR=0.9, 95 % CI=0.8-1.1, POR=0.72). When stratified by ethnicity, source of controls or cancer type, although some associations between XRCC3 Thr241Met polymorphism and GI cancer susceptibility were detected, these associations no longer existed after removing studies not conforming to HWE. Conclusion: Our meta-analysis suggests that the XRCC3 Thr241Met polymorphism is not associated with risk of GI cancer based on current evidence.

제 2형 당뇨병 및 당뇨 합병증의 발생과 Peroxisome Proliferator-Activated Receptor-$\gamma2$ C161T 유전자 다형성과의 관계 (The Association between Peroxisome Proliferator-Activated Receptor-Gamma C161T Polymorphism and Type 2 Diabetic Complications)

  • 이병철;안세영;두호경;안영민
    • 대한한방내과학회지
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    • 제28권4호
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    • pp.902-910
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    • 2007
  • Objective : Peroxisome proliferator-activated receptor (PPAR)-gamma, a transcription factor in adipocyte differentiation, has important effects on insulin sensitivity, atherosclerosis, endothelial cell function and inflammation. Through these effects, PPAR-gamma2 might be involved with type 2 diabetes and vascular disease, including diabetic complications. Recently, it has been reported that the C161T polymorphism in the exon 6 of PPAR-gamma is associated with type 2 diabetes interacting with uncoupling protein 2 (UCP2) gene, and is associated with acute myocardial infarction. We studied the association of this polymorphism with type 2 diabetes and its complications, such as retinopathy, ischemic stroke, nephropathy and neuropathy in Korean non-diabetic and type 2 diabetic populations. Methods : Three hundred and thirty eight type 2 diabetic patients (retinopathy: 64, ischemic stroke: 67, nephropathy: 39 and neuropathy: 76) and 152 healthy matched control subjects were evaluated. The PPAR-gamma C161T polymorphism was analyzed by PCR-RFLP. Results : PPAR-gamma C161T genotype and allele frequency did not show significant differences between type 2 diabetic patients and healthy controls (T allele: 17.0 vs. 14.5, OR= 1.21, P=0.3188). In the analysis for diabetic complications, T allele in diabetic nephropathy was significantly higher than controls (P=0.0358). T allele in the ischemic stroke patients was also higher than healthy controls, although it had no significance (P=0.1375). Conclusions : These results suggest that the C161T polymorphism of the PPAR-gamma gene might be associated with diabetic nephropathy in type 2 diabetes.

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