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巴西人群中,平滑基因启动子区域CpG岛单核苷酸多态性(SNPs)与甲基化位点缺失之间的关联,基底细胞癌易感性的潜在分子标志物。

Association between SNPs and Loss of Methylation Site on the CpG island of the Promoter Region of the Smoothened Gene, Potential Molecular Markers for Susceptibility to the Development of Basal Cell Carcinoma in the Brazilian Population.

作者信息

Souza Augusto Monteiro de, Lopes Otávio Sérgio, Liberato Andressa de Lima, Oliveira Paulo Junior Ribeiro de, Herrero Sylvia Satomi Takeno, Nascimento Agnaldo Luiz do, Longui Carlos Alberto, Carvalho Filho Ivan Rodrigues de, Soares Leonardo Ferreira, Silva Renally Barbosa da, Burbano Rommel Rodriguez, Delatorre Plínio, Lima Eleonidas Moura

机构信息

Laboratory of Structural Molecular Biology and Oncogenetics - LBMEO, Federal University of Paraiba, João Pessoa - PB, Brazil.

Postgraduate Program in Cellular and Molecular Biology, Federal University of Paraiba, João Pessoa - PB, Brazil.

出版信息

Asian Pac J Cancer Prev. 2020 Jan 1;21(1):25-29. doi: 10.31557/APJCP.2020.21.1.25.

DOI:10.31557/APJCP.2020.21.1.25
PMID:31983159
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7294008/
Abstract

OBJECTIVE

Perform genotyping of SNPs in the promoter region of the SMO gene in BCC samples from patients from northeastern Brazil, and to determine if there is an association of these SNPs of the gene in question with the susceptibility to the development of the BCC.

METHODS

100 samples of paraffined tissue from patients with histopathological diagnosis of BCC and 100 control samples were analyzed for each polymorphism by a newly developed genotyping method, the Dideoxy Single Allele Specific - PCR. The software Bioestat - version 5.3 and Haploview 4.2 were used for the statistical analysis. For all tests a P-value.

摘要

目的

对来自巴西东北部患者的基底细胞癌(BCC)样本中SMO基因启动子区域的单核苷酸多态性(SNP)进行基因分型,并确定该基因的这些SNP与BCC发生易感性之间是否存在关联。

方法

采用新开发的基因分型方法——双脱氧单等位基因特异性PCR,对100例经组织病理学诊断为BCC的患者石蜡组织样本和100例对照样本的每种多态性进行分析。使用Bioestat 5.3软件和Haploview 4.2进行统计分析。所有检验均采用P值。

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Gene. 2018 Apr 20;651:1-8. doi: 10.1016/j.gene.2018.01.070. Epub 2018 Jan 31.
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MLH1-93 G/a polymorphism is associated with MLH1 promoter methylation and protein loss in dysplastic sessile serrated adenomas with BRAF mutation.MLH1-93G/a 多态性与 BRAF 突变的发育不良无蒂锯齿状腺瘤中 MLH1 启动子甲基化和蛋白缺失相关。
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Pathol Oncol Res. 2018 Jul;24(3):489-496. doi: 10.1007/s12253-017-0265-8. Epub 2017 Jun 30.
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Epidemiology of basal cell carcinoma: scholarly review.基底细胞癌的流行病学:学术综述。
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Basal Cell Carcinoma of the Umbilicus: A Comprehensive Literature Review.脐部基底细胞癌:一项全面的文献综述
Cureus. 2016 Sep 7;8(9):e770. doi: 10.7759/cureus.770.
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Association of six CpG-SNPs in the inflammation-related genes with coronary heart disease.炎症相关基因中六个CpG单核苷酸多态性与冠心病的关联
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