• 제목/요약/키워드: Polymorphism, genetic

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Population Genetic Structure of Carassius auratus (Pisces: Cypriniformes) in South Korea Inferred from AFLP Markers: Discordance with Mitochondrial Genetic Structure

  • Jung, Jongwoo
    • Animal Systematics, Evolution and Diversity
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    • 제29권1호
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    • pp.18-22
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    • 2013
  • A recent study on the mitochondrial genetic variation of the Carassius auratus population in South Korea suggested that there are 3 distinct mitochondrial lineages in the country, and that they are geographically separated between westward rivers and southward rivers, respectively. In this study, the population genetic structure of amplified fragment length polymorphism (AFLP) of Carassius auratus was investigated. The results of analysis of molecular variance (AMOVA) supported the geographic distinction between westward and southward river populations, but only 3.66% of total genetic variance lies among these populations. The panmicticity of the AFLP genetic variation is backed up by the results of the neighbor-joining dendrogram drawn from a linearized pairwise $F_{ST}$ matrix and Bayesian clustering analysis. The discordance of genetic structure between mitochondrial and AFLP genetic variation may come from difference in effective population size between these markers and/or gene flow between westward and southward river populations through river capture events.

한국인 조현병 환자와 도파민 D2 수용체 유전자 다형성과의 관련연구 (Association Study between DRD2 Genetic Polymorphisms and Schizophrenia in a Korean Population)

  • 김태성;차승민;왕성근;김정란;이영호;최혜인;지익성
    • 생물정신의학
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    • 제19권1호
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    • pp.60-64
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    • 2012
  • Objectives : This study was designed to investigate the association between the dopamine D2 receptor (DRD2) genetic polymorphism [TaqIB (rs17294542) and TaqID (rs1800498)] and patients with schizophrenia. Methods : TaqIB (rs17294542) and TaqID (rs1800498) polymorphism of the DRD2 gene were typed in 100 patients with schizophrenia and 109 normal controls. Results : There were no statistical differences in genotype and allele distribution of TaqIB (rs17294542) and TaqID (rs1800498) genetic polymorphism between patients with schizophrenia and normal controls. Conclusions : These results suggest that the TaqIB (rs17294542) and TaqID (rs1800498) polymorphisms of the DRD2 gene may not be associated with schizophrenia in the Korean population.

Amplified Fragment Length Polymorphism Fingerprinting as a Tool to Study the Genetic Diversity of Staphylococcus aureus Isolated from Food Sources

  • Kim, Young-Sam;Kim, Jong-Bae
    • 대한의생명과학회지
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    • 제8권1호
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    • pp.39-46
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    • 2002
  • Amplified fragment length polymorphism (AFLP) is a recently developed PCR-based high resolution fingerprinting method that is able to generate complex banding patterns which can be used to delineate intraspecific genetic relationships among bacteria. In this study, we have modified and evaluated a PCR-based technique, amplified fragment length polymorphism (AFLP) analysis, for use in fingerprinting strains of Staphylococcus aureus. Single-enzyme amplified fragment length polymorphism (SE-AFLP) analysis was used to perform strain identification of Staphylococus aureus. By careful selection of AFLP primers, it was possible to obtain reproducible and sensitive identification to strain level. AFLP fingerprinting of 5 reference strains of Staphylococcus aureus and 65 strains of Staphylococcus aureus that were isolated from food sources of different area and diverse genomic types of Staphylococcus aureus were recognized. As a result of this study, we found that the AFLP patterns of Staphylococcus aureus isolated from Seoul, Taejeon and Gwang-Ju indicated the close relation with genetic similarity. The main purpose of this study was to find an alternative and reliable fingerprinting method to study the overall genetic diversity, using Staphylococcus aureus species as an example, and observed if the method can be successfully applied to all staphylococcal species.

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Frequency of the Angiotensin - Converting Enzyme (ACE) Gene Polymorphism in the General Population and the Elite Endurance Students in Korea

  • Choung, Ho-Jin;Yoon, Song-Ro;Choi, Soo-Kyung
    • Journal of Genetic Medicine
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    • 제3권1호
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    • pp.11-13
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    • 1999
  • Recently it was reported that Insertion/Deletion polymorphism in the gene coding for Angiotensin-Converting Enzyme (ACE) is associated with human capacity for physical performance. This study was performed to genotyping of the ACE gene to determine the correlation between elite endurance performance and ACE I/D gene polymorphism. DNA sample was obtained from peripheral blood, hair roots and mouth epithelial cell in 739 general population and 200 elite athletic performance students. The ACE gene was amplified by polymerase chain reaction (PCR) using allele specific oligonucleotide primers. 155, 525 bp and 237 bp PCR products indicating the presence of insertion(I) and deletion(D) alleles, respectively, were clearly resolved after electrophoresis on a 2% agarose gel with ethidium bromide. Of the 200 elite athletic performance population subjects, 68(34%) showed ACE genotype 11,100(50%) genotype ID and 32(16%) genotype DD. Of the 739 general population subjects, 259(35.1%) showed ACE genotype 11,363(49.1%) genotype ID and 117(15.8%) genotype DD. Therefore ACE I/D gene polymorphism was not associated with human capacity for physical performance.(p>0.05)

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

  • 송일병;이수경
    • 사상체질의학회지
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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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크실렌 노출로 인한 요중 메틸마뇨산 배설에 미치는 유전자 다형성 연구 (A Study on Polymorphism Affecting Excretion of Urinary Methylhippuric Acid due to Xylene Exposure)

  • 김청식;고상백;김형수;박수경;장성훈
    • Journal of Preventive Medicine and Public Health
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    • 제37권4호
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    • pp.321-328
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    • 2004
  • Objectives : The purpose of this study was to investigate the effect of genetic polymorphism of cytochrome P450 2E1 (CYP2E1) and aldehyde dehydrogenase 2 (ALDH2) on the xylene metabolism. Methods : Among 247 workers, 116 were occupationally exposed to xylene and 131 were not. Workers exposed to xylene had different work such as spray, touch-up, mix & assist, and pre-treat. Questionnaire variables were age, sex, use of personal protective equipment, smoking, previous night's drinking and work duration. The urinary methylhippuric acid was measured in the urine collected in the afternoon and corrected by urinary creatinine concentration. The genotypes of CYP2E1 and ALDH2 were investigated by using PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) methods with DNA extracted from venous blood. Results : 1. The urinary concentrations of o-, m-, and p-methylhippuric acid and total methylhippuric acid in the exposed group were significantly higher than those in the non-exposed group (p<0.001). 2. In multiple regression analysis, the urinary methylhippuric acid concentration was significantly influenced by exposure grade (Job-exposure matrixes), smoking, drug use and kind of protective equipment (p<0.1). 3. Genetic polymorphism of CYP2E1 and ALDH2 did not affect urinary methylhippuric acid level in the exposed group (p>0.05). Conclusions : Exposure grade, smoking, drug use and kind of protective equipment affected urinary methylhippuric acid level, whereas genetic polymorphism of CYP2E1 and ALDH2 did not. However, further investigation for the effect of genetic polymorphism on the metabolism of xylene with a larger sample size is needed.

Updated Meta-analysis on HER2 Polymorphisms and Risk of Breast Cancer: Evidence from 32 Studies

  • Chen, Wei;Yang, Heng;Tang, Wen-Ru;Feng, Shi-Jun;Wei, Yun-Lin
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권22호
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    • pp.9643-9647
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    • 2014
  • Background: Several studies have been performed to investigate the association of the HER2 Ile655Val polymorphism and breast cancer risk. However, the results were inconsistent. To understand the precise relationship, a meta-analysis was here conducted. Materials and Methods: A search of PubMed conducted to investigate links between the HER2 Ile655Val polymorphism and breast cancer, identified a total of 32 studies, of which 29, including 14,926 cases and 15,768 controls, with odds ratios (ORs) with 95% confidence intervals were used to assess any association. Results: In the overall analysis, the HER2 Ile655Val polymorphism was associated with breast cancer in an additive genetic model (OR=1.136, 95% CI 1.043-1.239, p=0.004) and in a dominant genetic (OR=1.118, 95% CI 1.020-1.227, p=0.018), while no association was found in a recessive genetic model. On subgroup analysis, an association with breast cancer was noted in the additive genetic model (OR=1.111, 95% CI: 1.004-1.230, p=0.042) for the Caucasian subgroup. No significant associations were observed in Asians and Africans in any of the genetic models. Conclusions: In summary, our meta-analysis findings suggest that the HER2 Ile655Val polymorphism is marginally associated with breast cancer susceptibility in worldwide populations with additive and dominant models, but not a recessive model.

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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    • 제8권1호
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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.

Genetic Association between ERCC5 rs17655 Polymorphism and Colorectal Cancer Risk: Evidence Based on a Meta-analysis

  • Zeng, Yong;Wei, Li;Wang, Ya-Jie;Liu, Chuan
    • Asian Pacific Journal of Cancer Prevention
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    • 제16권13호
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    • pp.5565-5571
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    • 2015
  • Background: Previous studies evaluating the association between the excision repair cross complementing group 5 (ERCC5) gene rs17655 polymorphism and colorectal cancer susceptibility generated controversial results. To generate large-scale evidence on whether the ERCC5 rs17655 polymorphism might indeed be associated with colorectal cancer susceptibility, the present meta-analysis was performed. Materials and Methods: Data were collected from PubMed, Embase and Web of Science, with the last report up to Apr 03, 2015. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess the strength of any association. Results: A total of nine studies including 5,102 cases and 6,326 controls based on the search criteria were included and significant associations were found between ERCC5 rs17655 polymorphism CG vs GG overall (OR = 1.29, 95% CI =1.18~1.40) and in the dominant model (OR=1.23, 95% CI =1.13~1.33). On subgroup analysis by ethnicity and source of controls, the ERCC5 rs17655 polymorphism was found to correlate with the pathogenesis of colorectal cancer among Asians and Caucasians and with hospital-based populations. Conclusions: This meta-analysis suggests that the ERCC5 rs17655 polymorphism might contribute to genetic susceptibility to colorectal cancer.

BENZENE INDUCED CHROMOSOME ABERRATIONS AND THE ASSOCIATION WITH GENETIC POLYMORPHISM

  • Kim, Su-Young;Cho, Yoon-Hee;Jung, Eun-Jung;Park, Jung keun;Paek, Do-Myung;Chung, Hai-Won
    • 한국독성학회:학술대회논문집
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    • 한국독성학회 2002년도 Current Trends in Toxicological Sciences
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    • pp.66-66
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    • 2002
  • This study was done to examine the benzene induced chromosomal aberrations and also the influence of genetic polymorphism(GSTM1, GSTT1, GSTP1, NAT2, NQO1, CYP2E1 and CYP1A1) on the chromosomal aberrations. In total, 82 benezene exposed workers and 76 matched controls were examined.(omitted)

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