张玲玲,朱坤兵,崔文.甲状腺乳头状癌相关基因单核苷酸多态性研究进展[J].济宁医学院学报,2017,40(1):63-67 |
甲状腺乳头状癌相关基因单核苷酸多态性研究进展 |
The research progress of the related gene single nucleotide polymorphisms in thyroid papillary carcinoma |
投稿时间:2016-11-28 |
DOI:10.3969/j.issn.1000-9760.2017.01.016 |
中文关键词: 单核苷酸多态性;甲状腺乳头状癌;遗传易感性;突变点 |
英文关键词: Single nucleotide polymorphisms;Thyroid papillary carcinoma;Genetic susceptibility;Change point |
基金项目:山东省教育厅山东省高等学校科技计划(J13LK14) |
作者 | 单位 | E-mail | 张玲玲 | 济南大学山东省医学科学院医学与生命科学学院, 济南 250022 | | 朱坤兵 | 济宁医学院附属医院, 济宁 272067 | | 崔文 | 济宁医学院法医学与医学检验学院, 济宁 272067 | cuiwenmd@163.com |
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中文摘要: |
目的 甲状腺癌是内分泌系统最常见的恶性肿瘤,其中发病率最高的病理类型是甲状腺乳头状癌(thyroid papillary carcinoma,PTC)。PTC的发生是由多基因相互作用、多种环境因素协同作用的结果,与PTC发生发展相关的基因有BRAF、BCL-2、ATM等基因。由于个体间肿瘤遗传易感性存在差异因而导致每个人对恶性肿瘤的反应也不一样。随着基因组检测技术的发展,全基因组关联研究(genome-wide association studies,GWAS)成为了肿瘤遗传易感性的重要研究手段。近年来,国内外研究工作人员开展了对PTC的GWAS并取得一些成果。本文从遗传学角度对PTC各个单核苷酸多态性(single nucleotide polymorphisms,SNP)位点在不同人群里的验证实验以及相关基因SNP的研究进展作一综述。 |
英文摘要: |
Thyroid cancer is the most common endocrine system malignant tumor,and the frequency of the highest pathological types is thyroid papillary carcinoma.The occurrence of thyroid papillary carcinoma is attributed to the interaction of multiple genes and many environmental factors.The identified genes associated with thyroid papillary carcinoma have a mutated BRAF gene,BCL-2 gene,ATM gene,etc.The different individuals in a similar environment of their reactivity is different,which is due to the tumor genetic susceptibility.With the development of genetic testing technology,genome-wide association studies have become an important research means of tumor genetic susceptibility.In recent years,researchers at home and abroad have carried out the genome-wide association study of thyroid papillary carcinoma and achieved some results.The review describes from the perspective of genetics two sides:the confirmation experiment in each SNP loci in different populations and the research progress of thyroid papillary carcinoma of the related gene single nucleotide polymorphisms. |
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