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首页> 外文期刊>Balkan journal of medical genetics: BJMG >DETECTION OF ALLELIC VARIANTS OF THE POLE AND POLD1 GENES IN COLORECTAL CANCER PATIENTS
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DETECTION OF ALLELIC VARIANTS OF THE POLE AND POLD1 GENES IN COLORECTAL CANCER PATIENTS

机译：在结肠直肠癌患者中检测杆和Pold1基因的等位基因变体

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摘要

Incidence of colorectal cancer is high worldwide and it mostly occurs as an accumulation of environmental factors and genetic alterations. Hereditary colorectal cancer can develop as a part of a hereditary syndrome. There is a suspected correlation between colorectal cancer and allelic variants of the POLE and POLD1 genes. The aim of the present study was to look for associations between the allelic variants in the POLE and POLD1 genes and colorectal cancer. One thousand, seven hundred and forty-nine DNA samples from colorectal cancer patients were collected from 2002 to 2013. Samples were divided in three groups: hereditary colorectal cancer patients, patients with different hereditary cancer syndromes in their families and patients with no cancer history in their families. The DNA samples were screened for allelic variants of POLE rs483352909 and POLD1 rs39751463 using denaturing high performance liquid chromatography (DHPLC). All patients were negative for allelic variants rs483352909 of the POLE gene and rs397514632 of the POLD1 gene. One allelic variant rs373243003 in the POLE gene and one novel duplication of four nucleotides at the excision site between intron and exon (c. 1384-5dupCCTA) in the POLD1 gene, was found. We could not detect or confirm the connection between the genetic variants in the POLD1 and POLE genes and colorectal cancer patients, but we detected a novel genetic variant with an unknown significance.
机译：全世界结肠直肠癌的发病率高，主要是作为环境因素的积累和遗传改变的积累。遗传结肠直肠癌可以发展为遗传综合征的一部分。结肠直肠癌和杆子和Pold1基因的等位基因变体之间存在疑似相关性。本研究的目的是寻找极点和Pold1基因和结肠直肠癌的等位基因变体之间的关联。从2002年至2013年收集了一千七百七十九次DNA样品，从2002年到2013年收集。样品分为三组：遗传性结肠直肠癌患者，其家庭和患者患者不同的遗传性癌症综合征患者他们的家人。使用变性高效液相色谱（DHPLC）筛选DNA样品的极杆RS48352909和POLD1 RS39751463的等位基因变体。所有患者对POL基因的极其基因和RS397514632的等位基因变体RS483352909也是阴性的。发现，在Pold1基因中，杆基因中的一个等位基因变异RS373243003在杆基因中的一个等级变异RS373243003和在内含子和外显子（C.1384-5dupccta）之间的切除部位的一种新核苷酸。我们无法检测到Pold1和杆基因和结肠直肠癌患者的遗传变异之间的联系，但我们检测到一种具有未知意义的新型遗传变异。

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