• Title/Summary/Keyword: Protein polymorphism

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Effects of Apo E Polymorphisms and Dietary Counseling on the Levels of Plasma Lipids in Hyperlipidemic Patients (고지혈증 환자에서 Apo E 유전자 다형성과 영양상담에 의한 식사조절이 혈청지질 농도에 미치는 영향)

  • 김수정;조여원;임정은;김영설
    • Journal of Nutrition and Health
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    • v.31 no.9
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    • pp.1411-1421
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    • 1998
  • The purpose of this study was to investigate the effects of apo E polymorphisms and dietary counseling on the levels of plasma lipids in hyperlipidemic patients. The changes of serum lipids were assessed f3r 34 hyperlipidemic out-patients who changed their basal diet containing 20.1% fat(236.0mg cholesterol/day), 15.7% protein, and 64.2% carbohydrate to a diet containing 18.3% fat(109.8mg cholesterol/day), 15.7% protein, and 66.0% carbohydrate for 12 weeks. At the beginning of this study, the levels of plasma LDL-cholesterol were high according to apo E genotypes in the following order : E2/3

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A Possible Relation of the Helicobacter pylori pfr Gene to Iron Deficiency Anemia? (Helicobacter pylori 연관 철분 결핍성 빈혈과 H. pylori pfr 유전자 다형성과의 관련성)

  • Lee, Ji-Eun;Choe, Yon-Ho;Hwang, Tae-Sook
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.4 no.1
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    • pp.28-33
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    • 2001
  • Purpose: H. pylori infection is thought to contribute to iron-deficiency anemia, especially during puberty. The ferritin protein Pfr of H. pylori is homologous to eukaryotic and prokaryotic ferritins. The purpose of this study was to analyze the H. pylori pfr status in gastric biopsy specimens according to clinical data, including antral gastritis with or without iron-deficiency anemia. Methods: A total of 26 H. pylori-positive patients aged from ten to 18 years were categorized into subgroups based on the presence or absence of iron-deficiency anemia. All of them had antral gastritis. Sixteen patients were proved to have iron-deficiency anemia by hematological study, two of which had a duodenal ulcer. The other ten patients showed normal hematological findings. DNA isolation was performed from each of the gastric biopsy specimens. PCR amplification of the pfr gene coding was done using two sets of primers. The pfr region, 501 bp, was generated by linking the sequences of the two PCR products. The nucleotide and protein sequences were compared between the pfr regions from Korean H. pylori strains and the NCTC 11638, 26695, and J99 strain, which were obtained from the Genbank. Sequence comparisons were also performed for the pfr regions between the iron-deficiency anemia (+) and (-) groups. Results: Analysis of the complete coding region of pfr gene revealed three sites of mutation. The Ser39Ala mutation was found in 100% (26/26), Gly111Asn in 26.9% (7/26), and Gly82Ser in 11.5% (3/26). There were no significant differences in the mutations of the pfr regions between the iron deficiency anemia (+) and (-) groups. Conclusion: The mutation in the pfr gene did not relate with the clinical phenotype, iron deficiency anemia. Further studies are needed on the aspects of host side or other complex factors to elucidate anemia. Further studies are needed on the aspects of host side or other complex factors to elucidate the mechanisms by which the H. pylori infection might lead to iron deficiency anemia.

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Association of Genetic Variations with Pemetrexed-Induced Cytotoxicity in Non-Small Cell Lung Cancer Cells (비소세포폐암 세포주에서 pemetrexed의 세포독성과 유전학적 다형성과의 상관성 조사)

  • Yoon, Seong-Ae;Choi, Jung-Ran;Kim, Jeong-Oh;Shin, Jung-Young;Zhang, XiangHua;Kang, Jin-Hyoung
    • Journal of Life Science
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    • v.20 no.1
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    • pp.103-112
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    • 2010
  • Pemetrexed has demonstrated clinical activity in non-small cell lung cancer (NSCLC) as well as other solid tumors. It transports into the cells via reduced folate carrier (RFC) and is polyglutamated by folypolyglutamate synthetase (FPGS). Pemetrexed directly inhibits several folate-dependent enzymes such as thymidylate synthase (TS), dihydrofolate reductase (DHFR), and glycinamide ribonucleotide formyltransferase (GARFT). We investigated the effects of genetic variations and the expression of RFC, FPGS, TS and DHFR enzymes on drug sensitivity to pemetrexed in NSCLC cells. Polymorphisms in RFC, FPGS, and DHFR were genotyped in four NSCLC cells - A549, PC14, HCC-1588, and H226. Real-time RT-PCR and Western blot was performed to evaluate mRNA transcripts and protein of these genes. The cytotoxicity of pemetrexed was measured by SRB assay. In PC14 and H226 cells, increased mRNA expressions of RFC and FPGS were associated with higher cytotoxicity to pemetrexed. 2R/2R genotype of TS and its increased mRNA expression were associated with drug resistance to pemetrexed in A549 cells, whereas 3R/3R genotype in TS with decreased mRNA expression was associated with higher sensitivity in H226 cells. After pemetrexed treatment, an inverse change of DHFR mRNA and protein expression was found. The strongest linkage disequilibrium (LD) was discovered between-1726C>T and -1188A>C SNP of DHFR gene. Our findings suggest the cytotoxic effect of pemetrexed may be associated with genetic polymorphisms and the expression level of genes involved in pemetrexed metabolisms in NSCLC cells.

Association of β-Catenin with Fat Accumulation in 3T3-L1 Adipocytes and Human Population (β-catenin 유전자의 3T3-L1 지방세포 및 인체에서의 지방축적 연관성 연구)

  • Bae, Sung-Min;Lee, Hae-Yong;Chae, Soo-Ahn;Oh, Dong-Jin;Park, Suk-Won;Yoon, Yoo-Sik
    • Journal of Life Science
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    • v.21 no.9
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    • pp.1301-1309
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    • 2011
  • The major function of adipocytes is to store fat in the form of triglycerides. One of the signaling pathways known to affect adipogenesis, i.e. fat formation, is the WNT/${\beta}$-catenin pathway which inhibits the expression and activity of key regulators of adipogenesis. The purpose of this research is to find genes among the WNT/${\beta}$-catenin pathway which regulate adipogenesis by using small interfering (si) RNA and to find the association of single nucleotide polymorphisms (SNPs) of the gene with serum triglyceride levels in the human population. To elucidate the effects of ${\beta}$-catenin siRNA on adipogenesis key factors, PPAR${\gamma}$ and C/EBP${\alpha}$, we performed real-time PCR and western blotting experiments for the analyses of mRNA and protein levels. It was found that the siRNA-mediated knockdown of ${\beta}$-catenin upregulates adipogenesis key factors. However, upstream regulators of the WNT/${\beta}$-catenin pathway, such as DVL2 and LRP6, had no significant effects compared to ${\beta}$-catenin. These results indicate that ${\beta}$-catenin is a candidate gene for human fat accumulation. In general, serum triglyceride level is a good indicator of fat accumulation in humans. According to statistical analyses of the association between serum triglyceride level and SNPs of ${\beta}$-catenin, -10,288 C>T SNP (rs7630377) in the promoter region was significantly associated with serum triglyceride levels (p<0.05) in 290 Korean subjects. On the other hand, serum cholesterol levels were not significantly associated with SNPs of the ${\beta}$-catenin gene. The results of this study showed that ${\beta}$-catenin is associated with fat accumulation both in vitro and in the human population.

SSR Marker Related to Major Characteristics Affected Kernel Quality in Waxy Corn Inbred Lines (찰옥수수 자식계통의 주요 품질특성과 관련된 SSR마커)

  • Jung, Tae-Wook;Moon, Hyeon-Gui;Son, Beom-Young;Kim, Sun-Lim;Kim, Soon-Kwon
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.51 no.spc1
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    • pp.185-192
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    • 2006
  • This experiment was conducted to assess genetic diversity of waxy corn inbred lines and to identify SSR markers related to major characteristics affected kernel quality for improving waxy corn $F_1$ hybrid with good quality. Diversity of 64 waxy com inbred lines was evaluated using 30 microsatellite markers. The 30 microsatellite markers representing 30 loci in the maize genome detected polymorphisms among the 64 inbred lines and revealed 225 alleles with a mean of 7.5 alleles per primer. The polymorphism Information content (PIC) value ranged from 0.14 to 0.87, with an average of 0.69. Based on Nei's genetic distances, the 64 inbred lines were classified into 9 groups by the cluster analysis. The group I included 26 inbred lines (41%), other groups included 3 to 9 inbred lines. One-way analysis of variance was conducted to identify significant relationship between individual markers and major characteristics that affect kernel quality. The analysis showed that umc1019 was related to amylopectin and crude protein content, me 1020 to amylopectin content and peak viscosity, and bnlg1537 to 100-kernel weight, kernel length, and kernel width.

Association between a non-synonymous single nucleotide polymorphism in the Complement component 9 (C9) gene and meat-quality traits in Berkshire pigs (Complement component 9 (C9) 유전자의 단일염기다형성과 버크셔 돼지 육질 형질과의 연관성 분석)

  • Ha, Jeongim;Hwang, Jung Hye;Yu, Go Eun;Park, Da Hye;Kang, Deok Gyeong;Kim, Tae Wan;Park, Hwa Chun;An, Sang Mi;Kim, Chul Wook
    • Korean Journal of Food Science and Technology
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    • v.50 no.5
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    • pp.480-485
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    • 2018
  • In this study, to identify single nucleotide polymorphisms (SNPs) associated with meat quality in Berkshire pigs, we performed RNA sequencing. A non-synonymous SNP (nsSNP) in the Complement component 9 (C9) gene was identified, and the association between meat quality traits and the C9 genotype was analyzed. The nsSNP in the C9 gene was located at c.942 G>T. In the dominant model, significant associations were observed between the SNP and meat quality traits such as CIE L, collagen content, moisture level, and $pH_{24h}$, whereas in the co-dominant model, significant associations were observed between the SNP and CIE L, collagen content, and protein content. In the recessive model, a significant association between the C9 genotype and the collagen content was observed. In addition, we identified the significant relationship between the C9 genotype and meat quality according to sex. These results indicate that the C9 SNP can be used as a genetic marker for improving pork quality.

Polymorphisms of TAS1R3 and GNAT3 Genes Are Associated with Patients with Taste Disorder (미각장애와 TAS1R3 및 GNAT3 유전자의 다형성과의 연관성)

  • Bae, Jae-Woong;Kim, Un-Kyung;Kwon, Tae-Jun;Choi, Su-Jin;Ye, Mi-Kyung
    • Journal of Life Science
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    • v.21 no.3
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    • pp.412-416
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    • 2011
  • Taste sensation plays a crucial role in selecting and ingesting foods with different qualities which convey information about their nutrient content and/or safety. Sweetness is one of the five modalities in humans and serves as an energy resource for metabolism. There are reports on allelic polymorphisms which influence perception of sweetness in mice and humans. Since the influence of genetic factors on taste disorder has not been studied, we investigated the association of genetic polymorphisms in TAS1R3 and guanine nucleotide binding protein, alpha transducing 3 (GNAT3) genes and taste disorder. A total of 150 individuals composed of 50 patients with taste disorder and 100 healthy controls were recruited for the study and PCR-mediated directing sequencing method was used to genotype for two different single nucleotide polymorphisms (SNPs) - rs307355 (T>C) and rs35744813 (T>C) in the TAS1R3 gene, and rs7792845 (T>C) and rs1524600 (C>T) in the the GNAT3 gene. The allele and genotype frequencies of rs307355 and rs35744813 in the TAS1R3 gene showed a significant association between patients with taste disorder (p=0.022 and p=0.013 in both of SNPs, respectively). In addition, the frequency of T-T haplotype in the TAS1R3 gene was higher in taste disorder cases than in the controls (OR, 1.93: 95%. CI, 1.09-3.39, p=0.022). In the GNAT3, the genotype frequency of rs7792845 in the patients was also different from the controls (p=0.048), but allele frequency was not significantly associated in either group. Our result provides the frequencies of SNPs and haplotypes of the TAS1R3 and GNAT3 genes for the fundamental information of nutrigenetics in perception of the taste of sweetness in the Korean population. Also, the study suggests that the allelic polymorphisms of TAS1R3 and GNAT3 genes may be useful as a molecular marker for evaluating patients with taste disorder. Further studies with large samples are required to clarify our observation.

Identification and Characterization of Three Isolates of Cucumber mosaic virus Isolated from Weed Hosts (잡초에서 분리한 3종 Cucumber mosaic virus의 동정과 특성)

  • Lee, Hyeok-Geun;Kim, Sung-Ryul;Jeon, Yong-Woon;Kwon, Soon-Bae;Ryu, Ki-Hyun;Choi, Jang-Kyung
    • Research in Plant Disease
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    • v.14 no.1
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    • pp.15-20
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    • 2008
  • Three isolates of Cucumber mosaic virus (CMV) were isolated from weed hosts showing typical mosaic symptoms, and some properties of the viruses were investigated. CMV isolates, designated as Is-CMV, Jd-CMV and Pla-CMV from Isodon inflexus, Jeffersonia dubia and Phryma leptostachya var. asiatica, respectively, were identified and characterized by biological reaction in several host plants, serological property, dsRNA analysis, reverse transcription-polymerase chain reaction (RT-PCR), restriction fragment-length polymorphism (RFLP). All isolates systemically infected in Nicotiana benthamiana, Cucurbita pepo cv. Black beauty and Cucumis sativus, and did not reveal any differences in these host plants between the isolates. However, remarkable difference in the symptoms was found between the CMVs in Capsicum annuum. Is-CMV induced an asymptomatic symptoms, while Jd-CMV and Pla-CMV produced severe mosaic symptoms in C. annuum plants. In dsRNA analysis, all isolates revealed four major bands with estimated molecular size of 3.4, 3.2, 2.1 and 1.0 kbp. The cDNAs of coat protein gene of the isolates were amplified by RT-PCR using a genus-specific single pair primers that designed to amplify a DNA fragment of approximately ranging from 938 to 966 bp. By restriction mapping analysis using RFLP of the RT-PCR products as well as by serological properties of gel diffusion test, the CMV isolates belong to a typical members of CMV subgroup IA. This is the first report on the occurrence of CMV in the three weed hosts.