本文選題：體細(xì)胞變異 + 神經(jīng)系統(tǒng)腫瘤�。� 參考：《遺傳》2016年03期

【摘要】：在生物體發(fā)育過程中各種內(nèi)源性及外源性因素均可造成DNA損傷,引起體細(xì)胞變異。研究表明體細(xì)胞變異對腫瘤具有致病性作用,而體細(xì)胞變異對神經(jīng)系統(tǒng)發(fā)育異常類疾病的致病性鮮有報道。新一代測序技術(shù)的發(fā)展,尤其是全外顯子測序、靶向深度測序的應(yīng)用大大提高了低頻體細(xì)胞變異檢出的敏感性,使科研人員重新認(rèn)識了體細(xì)胞變異在神經(jīng)系統(tǒng)腫瘤和發(fā)育異常類疾病發(fā)生中的致病性。本文綜述了體細(xì)胞變異在神經(jīng)系統(tǒng)腫瘤和發(fā)育異常類疾病致病性方面的研究進(jìn)展,旨在為今后研究該類疾病的遺傳病因提供新的思路,同時也為新藥開發(fā)提供理論依據(jù)。
[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.
【作者單位】： 首都兒科研究所兒童發(fā)育營養(yǎng)組學(xué)北京市重點實驗室;
【基金】：國家自然科學(xué)基金項目(編號:81370708,81401207) 北京市衛(wèi)生系統(tǒng)215高層次人才項目 北京市百千萬人才工程創(chuàng)新研發(fā)類項目 2014年首都衛(wèi)生發(fā)展科研專項項目(編號:2014-2-1131)資助~~
【分類號】：R739.4

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1 郭英華;生姜原生質(zhì)體培養(yǎng)與體細(xì)胞變異[D];中國農(nóng)業(yè)大學(xué);2005年

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