体细胞变异对神经系统常见肿瘤和发育异常类疾病的致病性

发布时间：2018-04-15 08:28

本文选题：体细胞变异 + 神经系统肿瘤　；参考：《遗传》2016年03期

【摘要】：在生物体发育过程中各种内源性及外源性因素均可造成DNA损伤,引起体细胞变异。研究表明体细胞变异对肿瘤具有致病性作用,而体细胞变异对神经系统发育异常类疾病的致病性鲜有报道。新一代测序技术的发展,尤其是全外显子测序、靶向深度测序的应用大大提高了低频体细胞变异检出的敏感性,使科研人员重新认识了体细胞变异在神经系统肿瘤和发育异常类疾病发生中的致病性。本文综述了体细胞变异在神经系统肿瘤和发育异常类疾病致病性方面的研究进展,旨在为今后研究该类疾病的遗传病因提供新的思路,同时也为新药开发提供理论依据。
[Abstract]:All kinds of endogenous and exogenous factors can cause DNA damage and cause somatic cell variation.Studies have shown that somatic variation has pathogenicity to tumor, while somatic cell variation has rarely been reported on pathogenicity of dysplasia of nervous system.The development of new generation sequencing technology, especially the application of total exon sequencing and targeted deep sequencing, has greatly improved the sensitivity of low-frequency somatic mutation detection.The researchers have rediscovered the pathogenicity of somatic cell variation in neurologic neoplasms and dysplasia.This article reviews the progress of somatic cell variation in the pathogenicity of nervous system neoplasms and dysplasia in order to provide a new idea for the future study of the genetic etiology of these diseases as well as a theoretical basis for the development of new drugs.
【作者单位】：首都儿科研究所儿童发育营养组学北京市重点实验室;
【基金】：国家自然科学基金项目(编号:81370708,81401207) 北京市卫生系统215高层次人才项目北京市百千万人才工程创新研发类项目 2014年首都卫生发展科研专项项目(编号:2014-2-1131)资助~~
【分类号】：R739.4

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