• 제목/요약/키워드: DNA polymorphisms

검색결과 584건 처리시간 0.032초

Evaluation of Methods to Analyze SNP-based Association Studies in a DNA-Pooling Experiment with Preferential Amplification

  • Ahn, Chul;Lee, Kyu-Sang
    • 한국생물정보학회:학술대회논문집
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    • 한국생물정보시스템생물학회 2005년도 BIOINFO 2005
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    • pp.395-398
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    • 2005
  • Genetic association case-control studies using DNA pools are efficient ways of detecting association between a marker allele and disease status. DNA pooling is an efficient screening method for locating susceptibility genes associated with the disease. However, DNA pooling is efficient only when allele frequency estimation is done precisely and accurately. Through the evaluation of empirical type I errors and empirical powers by simulation, we will evaluate the methods that correct for preferential amplification of nucleotides when estimating the allele frequency of single-nucleotide polymorphisms.

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한국인 갑상선 유두상암종 환자에서 XPC-PAT 유전자 다형 (XPC-PAT Polymorphism in Korean Thyroid Papillary Carcinoma)

  • 태경;이근영;김희옥;이용섭;이형석;안유헌
    • 대한두경부종양학회지
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    • 제22권2호
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    • pp.117-122
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    • 2006
  • Background and Objectives : Thyroid carcinoma is the sixth commonest cancer in Korea and the papillary carcinoma is the most common type(88%) of the malignant thyroid tumors. Bulky DNA adducts formed by the carcinogens are repaired by DNA repair process, but failure to repair this DNA damage can cause mutations in oncogenes and tumor suppressor genes resulting in tumor formation. The xeroderma pigmentosum group C(XPC) gene is essential for this repair procedure and the XPC-PolyAT(PAT) polymorphisms may alter DNA repair capacity(DRC) and genetic susceptibility to cancer. Subjects and Methods : In a case-control study of 113 Korean patients with pathologically diagnosed thyroid papillary carcinoma and 65 control subjects, we investigated the association between the three XPC-PAT gene polymorphisms and thyroid papillary cancer susceptibility. Results : The frequency of the variant XPC-PAT allele was lower in the cases(0.349) than in the controls (0.423), but the difference was not significant(p=0.140). Using logistic regression adjusting for age and sex, risk for thyroid papillary cancer was not increased in the XPC-PAT-/+ and XPC-PAT+/+ compared to XPCPAT-/-(adjusted overall odds ratio[95% confidence intervals;95%CI]=0.52[0.26-1.03] and 0.62 [0.22-1.75], respectively; trend test, p=0.167). Conclusion : There are no relationship between the XPC-PAT polymorphism and the risk of thyroid papillary carcinoma in Korean population. Based on our results, XPC-PAT polymorphism do not modulate genetic susceptibility to thyroid papillary cancer.

DNA marker 지문법에 의한 취나물 5종 (청옥취 , 개미취 , 참취 , 수리취 , 곰취)의 비교연구 (Comparative studies of the five edible mountain vegetables by DNA marker fingerprinting)

  • 유기억
    • 한국자원식물학회지
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    • 제9권3호
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    • pp.305-310
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    • 1996
  • 유용 취나물 5종류의 종간 유사도 및 종내 변이를 파악하기 위하여 38개체를 대상으로 PCR 방법을 이용하여 비교분석하였다. 사용된 62가지 primer 중에서 38개체 전체에서 band를 보여준 것은 10가지였고, 이를 통해 얻어진 총 band의 수는 176개로 나타났다. 종내변이는 청옥취가 31.1%에 해당하는 15개의 polymorphic band를 가져 변이가 가장 낮았으며 곰취는 61.1%로 가장 높게 나타났다. 군집분석 결과 조사된 38개체는 유사도 0.93에서 5종의 구분이 가능하였으며 38개체 각각은 유사도 0.62-0.99의 유사성을 갖는 것으로 나타났고 종내변이는 0.93이상으로 높게 나타나 변이가 적은 것으로 나타났다. 이상의 결과에서 PCR방법을 이용한 결과가 취나물 5종류를 구분하는데 유용하게 사용되었으며 군집분석 결과 종내 변이가 매우 낮은 것으로 나타났다.

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Single Nucleotide Polymorphisms of DNA Base-excision Repair Genes (APE1, OGG1 and XRCC1) Associated with Breast Cancer Risk in a Chinese Population

  • Luo, Hao;Li, Zheng;Qing, Yi;Zhang, Shi-Heng;Peng, Yu;Li, Qing;Wang, Dong
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권3호
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    • pp.1133-1140
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    • 2014
  • Altered DNA repair capacity can result in increased susceptibility to cancer. The base excision repair (BER) pathway effectively removes DNA damage caused by ionizing radiation and reactive oxidative species (ROS). In the current study, we analyzed the possible relation of polymorphisms in BER genes, including 8-oxoguanine DNA glycosylase (OGG1), apurinic/apyrimidinic endonuclease 1 (APE1), and X-ray repair cross-complementing group 1 protein (XRCC1), with breast cancer risk in Chinese Han women. This case-control study examined 194 patients with breast cancer and 245 cancer-free hospitalized control subjects. Single nucleotide polymorphisms (SNPs) of OGG1 (Ser326Cys), XRCC1 (Arg399Gln), and APE1 (Asp148Glu and -141T/G) were genotyped and analyzed for their association with breast cancer risk using multivariate logistic regression models. We found that XRCC1 Arg399Gln was significantly associated with an increased risk of breast cancer. Similarly, the XRCC1 Gln allele was significantly associated with an elevated risk in postmenopausal women and women with a high BMI (${\geq}24kg/m^2$). The OGG1 Cys allele provided a significant protective effect against developing cancer in women with a low BMI (< $24kg/m^2$). When analyzing the combined effects of these alleles on the risk of breast cancer, we found that individuals with ${\geq}2$ adverse genotypes (XRCC1 399Gln, APE1 148Asp, and OGG1 326Ser) were at a 2.18-fold increased risk of breast cancer (P = 0.027). In conclusion, our data indicate that Chinese women with the 399Gln allele of XRCC1 have an increased risk of breast cancer, and the combined effects of polymorphisms of BER genes may contribute to tumorigenesis.

Glutathione S-transferase P1 and DNA Polymorphisms with the Response to Chemotherapy and the Prognosis of Bone Tumor

  • Yang, Li-Min;Li, Xiu-Hua;Bao, Cui-Fen
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권11호
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    • pp.5883-5886
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    • 2012
  • Osteosarcoma is the most common primary bone malignancy in children and adolescents, and its clinical outcome is poor. We evaluated the response of GSTP1, ERCC1 and ERCC2 to chemotherapy among osteosarcoma patients, and the role of these genes on the prognosis of osteosarcoma. 187 patients with osteosarcoma were administered with methotrexate, cisplatin/adriamycin, actinomycin D, cyclophosphamide, or vincristine treatment. GSTP1, ERCC1 and ERCC2 polymorphism was genotyped by PCR-RFLP assay. The results showed the average survival time of 187 patients were 38.4 months. 97 patients showed response to neoadjuvant chemotherapy. The GSTP1 Val and ERCC2 A/A genotypes had significantly higher rates of response to chemotherapy, with adjusted OR (95% CI) of 2.19 (1.15-6.21) and 2.88 (1.14-13.25). Individuals with ERCC2 A/A genotype were likely to have a lower risk of death from oseosarcoma, and the adjusted HR was 0.32 (0.13-0.95). Our study indicated test of GSTP1 and ERCC2 Lys751Gln polymorphisms might be a candidate pharmacogenomic factors to be explored in the future to identify the osteosarcoma patients who might benefit from chemotherapy.

환경성 발암 기전에서 유전자-환경 상호작용의 역할 (The Role of Gene-environment Interaction in Environmental Carcinogenesis)

  • 한소희;이경무
    • 한국환경보건학회지
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    • 제36권1호
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    • pp.1-13
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    • 2010
  • Evidences supporting gene-environment interaction are accumulating in terms of environmental exposure including lifestyle factors and related genetic variants. One form of defense mechanism against cancer development involves a series of genes whose role is to metabolize (activation/detoxification) and excrete potentially toxic compounds and to repair subtle mistakes in DNA. The purpose of this article is to provide a brief review of the notion of gene-environment interaction, environmental/occupational carcinogens and related cancers, and previous studies of gene-environment interaction on cancers caused by exposure to carcinogenesis. With a number of studies on the interaction between lifestyle factors (e.g., smoking and diet) and genetic polymorphisms in genes involved in xenobiotic metabolism and DNA repair excluded, only several studies have been conducted on the interactive effects between polymorphisms of CYPs, GSTs, ERCCs, XRCCs and environmental/occupational carcinogens such as vinyl chloride, benzo[a]pyrene, and chloroform on carcinogenesis or genotoxicity. Future studies may need to be conducted with sufficient number of subjects and based on occupational cohorts to provide useful information in terms of advanced risk assessment and regulation of exposure level.

Genetic Polymorphisms and Cancer Susceptibility of Breast Cancer in Korean Women

  • Kang, Dae-Hee
    • BMB Reports
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    • 제36권1호
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    • pp.28-34
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    • 2003
  • Breast cancer is the most prevalent cancer among women in Western countries, and its prevalence is also increasing in Asia. The major risk factor for breast cancer can be traced to reproductive events that influence the lifetime levels of hormones. However, a large percentage of breast cancer cases cannot, be explained by these risk factors. The identification of susceptibility factors that predispose individuals to breast cancer (for instance, if they are exposed to particular environmental agents) could possibly give further insight into the etiology of this malignancy and provide targets for the future development of therapeutics. The most interesting candidate genes include those that mediate a range of functions. These include carcinogen metabolism, DNA repair, steroid hormone metabolism, signal transduction, and cell cycle control. We conducted a hospital-based case-control study in South Korea to evaluate the potential modifying role of the genetic polymorphisms of selected low penetrance genes that are involved in carcinogen metabolisms (i.e., CYP1A1, CYP2E1, GSTM1/T1/P1, NAT1/2, etc.), estrogen synthesis and metabolism (i.e., CYP19, CYP17, CYP1B1, COMT, ER-$\alpha$, etc.), DNA repair (i.e., XRCC1/3, ERCC2/4, ATM, AGT, etc.), and signal transduction as well as others (i.e., TGF-$\beta$, IGF-1, TNF-$\beta$, IL-1B, IL-1RN, etc.). We also took into account the potential interaction between these and the known risk factors of breast cancer. The results of selected genes will be presented in this mini-review.