• Title/Summary/Keyword: polymorph isms

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Association Study Between Genetic Polymorph isms in Interleukin-1 Gene Family and Adult Periodontitis in Korean

  • Kang, ByungYong;Kang, Chin Yang;Lee, Kang Oh
    • Toxicological Research
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    • v.20 no.4
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    • pp.299-305
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    • 2004
  • Adult periodontitis (AP) is a chronic inflammatory disease whose etiology is not well defined. Some studies suggested that the clinical characteristics of this disease may be in part explained by genetic factors, and some attempts to find genetic markers for this disease were successful. The interleukin-1 (IL-1) gene family as one of genetic factors may influence the expression of adult periodontitis. The aim of present study is to investigate the frequencies of genetic polymorphisms in the IL-1 gene family encoding three genes (IL-1A, IL-1B and IL-1RN) in Korean AP patients and periodontically healthy controls. There were no significant differences in genotype and allele frequencies of these polymorph isms between two groups, respectively. However, -511 polymorphism of IL-1 B gene was significantly associated with mean pocket depth (MPD, mm) value in AP patients (P<0.05). Therefore, our results suggest that -511 polymorphism in the IL-1B gene may be useful as a genetic marker for the severity of AP in Koreans.

Phylogenetic Analysis of Mitochondrial DNA Control Region in the Swimming Crab, Portunus trituberculatus

  • Cho, Eun-Min;Min, Gi-Sik;Kanwal, Sumaira;Hyun, Young-Se;Park, Sun-Wha;Chung, Ki-Wha
    • Animal cells and systems
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    • v.13 no.3
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    • pp.305-314
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    • 2009
  • The control region of mitochondrial DNA (13516-14619) is located between srRNA and $tRNA^{lle}$ gene in swimming crab, Portunus trituberculatus. The present study was investigated the genetic polymorph isms of the control region in samples of P. trituberculatus collected at coastal waters of the Yellow Sea in Korea. A total of 300 substitution and indel polymorphic sites were identified. In addition to SNPs and indel variation, a hypervariable microsatellite motif was also identified at position from 14358 to 14391, which exhibited 10 alleles including 53 different suballeles. When the hypervariable microsatellite motif was removed from the alignment, 95 haplotypes were identified (93 unique haplotypes). The nucleotide and haplotype diversities were ranged from 0.024 to 0.028 and from 0.952 to 1.000, respectively. The statistically significant evidence for geographical structure was not detected from the analyses of neighbor-joining tree and minimum-spanning network, neither. This result suggest that population of P. trituberculatus are capable of extensive gene flow among populations. We believed that the polymorph isms of the control region will be used for informative markers to study phylogenetic relationships of P. trituberculatus.

Analyses of Single Nucleotide Polymorphisms and Haplotype Linkage of the Human ABCB1 (MDR1) Gene in Korean

  • Ryu, Ho-Cheol;Kwon, Hyog-Young;Choi, Il-Kuen;Rhee, Dong-Kwon
    • Archives of Pharmacal Research
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    • v.29 no.12
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    • pp.1132-1139
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    • 2006
  • Single nucleotide polymorph isms (SNPs) in the MDR1 gene that are responsible for drug efflux can cause toxicity. Therefore, this study determined the SNPs of the Korean MDR1 gene, and analyzed the haplotypes and a linkage disequilibrium (LD) of the SNPs determined. The frequency of 9 SNPs from the MDR1 gene was determined by PCR-RFLP analyses of 100 to 500 healthy individuals. The frequcies of the SNPs were C3435T (47.7%), G2677T (37.6%), G2677A (4.4%), T1236C (21.7%), T129C (8%), A2956G (2.5%), T307C (1.5%), A41aG (9.2%), C145G (0%), and G4030C (0%). Analyses of the haplotype structure and an estimation of the LD of the combined polymorph isms demonstrated that the frequency of the 1236T-2677G-3435T haplotype is much higher in Koreans (14.1%) than in Chinese and western black Africans and the C3435T SNP in Koreans appears to have LD with T129C in Koreans for the first time. These results provide insight into the genetic variation of MDR1 in Koreans, and demonstrated the possibility of a new LD in this gene.

Genetic Analysis of Kallikrein-Kinin System in the Korean Hypertensives

  • Kang, ByungYong;Bae, Joon Seol;Lee, Kang Oh
    • Animal cells and systems
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    • v.8 no.1
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    • pp.41-47
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    • 2004
  • The kallikrein-kinin system affects regulation of blood pressure, and genes encoding for the components of this system have been considered as good candidates for hypertension. To evaluate the relationship between genetic polymorphisms of candidate genes involved in this system and hypertension, we performed case-control studies using genetic markers in Korean normotensives and hypertensives, respectively. By association study, there was a marginal association with hypertension in AA genotype distribution of A1789G polymorphism in the hKLK1 gene (P=0.0754). Thus, this genetic polymorphism may weakly contribute to the susceptibility to hypertension in Koreans. We also observed that significant linkage disequilibrium exists among three polymorphic sites in the hKLK1 gene studied, suggesting that the three genetic polymorph isms can be useful as genetic markers in clinical association studies. Further studies using larger sample sizes and more genetic markers will be needed to clarify genetic influence of kallikrein-kinin system for hypertension.

Random Amplified Polymorphic DNA (RAPD) Identification of Genetic Variation in Chlorella species

  • CHO Jung Jong;KIM Yong-Tae;HUR Sung Bum;KIM Young Tae
    • Korean Journal of Fisheries and Aquatic Sciences
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    • v.29 no.6
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    • pp.761-769
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    • 1996
  • The random amplified polymorphic DNA (RAPD) technique was used to characterize 18 reference strains of microalgae, mostly Chlorella species, collected from various localities around Korea peninsular. Eighteen strains consist of four genera of the family marine Chlorella from 12 samples, two genera of fresh water Chlorella from three samples, and three genera on Nannochloris. Twenty 10-mer anonymous primers were screened for amplification of genomic DNA extracted from samples using the CTAB extraction method. Nineteen of these oligonucleotide primers were positive or band producing. Three of 20 random primers (OPA 10, OPA 12, and OPA 18) resulted in both clear band and a high degree of reproducibility and showed some potential to be used to discriminate individual samples of both genetically hetero-and homogeneous populations, in determining phylogenetic relationships between species within a genus and developing individual fingerprints for each samples.

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Genetic Polymorphisms of t-PA and PAI-1 Genes in the Korean Population

  • Kang, Byung-Yong;Lee, Kang-Oh
    • Animal cells and systems
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    • v.7 no.3
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    • pp.249-253
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    • 2003
  • Abnormalities in fibrinolysis system is associated with risk of hypertension. In this report, the Alu repeat insertion/deletion (I/D) polymorphism of tissue plasminogen activator (t-PA) and the Hind III RFLP of plasminogen activator inhibitor-1 (PAI-1) genes were investigated in 115 normotensives and 83 patients with hypertension, and their association with anthropometrical data and plasma biochemical parameters were analyzed. There were no significant differences in the gene frequencies of the two candidate genes between normotensives and hypertensives, respectively. Our results indicate lack of associations between the two polymorph isms in t-PA and PAI-1 genes and risk of hypertension in the population under study. However, the Hind III RFLP of PAI-1 gene was significantly associated with plasma glucose level, suggesting its role in glucose metabolism. It needs to be tested whether this RFLP of PAI-1 gene is associated with insulin resistance syndrome or non-insulin dependent diabetes mellitus (NIDDM) in the Korean population.

SNP Detection of Arraye-type DNA Chip using Electrochemical Method (전기화학적 방법에 의한 신규 바이오칩의 SNP 검출)

  • 최용성;권영수;박대희
    • Journal of the Korean Institute of Electrical and Electronic Material Engineers
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    • v.17 no.4
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    • pp.410-414
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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.

Two Polymorphisms of Interleukin-4 Gene in Korean Adult Periodontitis

  • Kang, Byung-Yong;Choi, Young-Kyu;Choi, Wook-Hwan;Kim, Ki-Tae;Choi, Sung-Sook;Kim, Kyungjae;Ha, Nam-Joo
    • Archives of Pharmacal Research
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    • v.26 no.6
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    • pp.482-486
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    • 2003
  • Adult periodontitis is a multifactorial disease characterized by multple genetic and environmental factors. In view of the importance of interleukin-4 (IL-4) gene as a genetic factor for adult periodontitis, we investigated the relationship between two polymorphisms (-590 C $\rightarrow$ T polymorphism and 70 bp repeat polymorphism) of the human IL-4 gene and adult periodontitis in the Korean population. Genomic DNA was extracted from white blood cells of 32 adult periodontitis patients and 150 normal controls, respectively. There were no significant differences in the allele, genotype and haplotype distributions of two polymorph isms between normal controls and adult periodontitis group. Therefore, our results suggest that IL-4 gene locus contributes little to the interindividual susceptibility for adult periodontitis in Korean population.

Relationship between XRCC1 Polymorphism and Acute Complication of Chemoradiation Therapy in the Patients with Colorectal Cancer (대장, 직장암 환자에서 화학방사선치료의 급성 부작용과 XRCC1 유전자 다형성과의 상관관계)

  • Kim Woo-Chul;Hong Yun-Chul;Choi Sun-Keun;Woo Ze-Hong;Nam Jeong-Hyun;Choi Gwang-Seong;Lee Moon-Hee;Kim Soon-Ki;Song Sun-U.;Loh John-Jk
    • Radiation Oncology Journal
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    • v.24 no.1
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    • pp.30-36
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    • 2006
  • Purpose: It is well known from clinical experience that acute complications of chemoradiation therapy vary from patients to patients. However, there are no known factors to predict these acute complications before treatment starts. The human XRCC1 gene is known as a DNA base excision repair gene. We investigated the possibilities of XRCC1 gene polymorphisms as a predictor for the acute complications of chemoradiation therapy in colorectal cancer patients. Materials and Methods: From July 1997 to June 2003, 86 colorectal cancer patients (71 rectal cancer, 13 sigmoid colon cancer and 2 colon cancer patients) were treated with chemoradiation therapy at the Department of Radiation Oncology, Inha University Hospital. Twenty-two patients were in stage B, 50 were in stage C, 8 were in stage D and 6 patients were unresectable cases. External radiation therapy was delivered with 10MV X-ray at a 1.8 Gy fraction per day for a total dose of radiation of $30.6{\sim}59.4 Gy$ (median: 54 Gy). All the patients received 5-FU based chemotherapy regimen. We analyzed the acute complications of upper and lower gastrointestinal tract based on the RTOG complication scale. The initial and lowest WBC and platelet count were recorded during both the RT period and the whole treatment period. Allelic variants of the XRCC1 gene at codons 194, 280 and 399 were analyzed in the lymphocyte DNA by performing PCR-RFLP. Statistical analyses were carried out with the SAS (version 6.12) statistical package. Results: When all the variables were assessed on the multivariate analysis, recurrent disease revealed the factors that significantly correlated with upper gastrointestinal acute complications. Arg399Gln polymorph isms of the XRCC1 gene, the radiation dose and the frequencies of chemotherapy during radiation therapy were significantly correlated with lower gastrointestinal complications. Arg399Gln polymorph isms also affected the decrease of the WBC and platelet count during radiation therapy. Conclusion: Although the present sample size was too small for fully evaluating this hypothesis, this study suggests that Arg399Gln polymorph isms of the XRCC1 genes may be used as one of the predictors for acute complications of chemoradiation therapy in colorectal cancer patients.