本文選題：修飾基因 + 突變發(fā)生　； 參考：《中國全科醫(yī)學(xué)》2013年29期

【摘要】：背景導(dǎo)致急性髓細(xì)胞樣白血病(AML)的諸多基因突變尚未明確。突變模式與表觀遺傳學(xué)表型的關(guān)系尚不清楚。方法研究者對200例臨床解釋為新型AML的成人患者的基因組進(jìn)行了分析,采用全基因組測序(50例)或全外顯子測序(150例),并且采用RNA、小分子RNA測序和DNA甲基化分析。結(jié)果 AML基因組突變數(shù)量較其他成人癌癥突變數(shù)量少,平均僅13個(gè)基因發(fā)生突變。在這些基因中平均有5個(gè)基因發(fā)生多次突變,有23個(gè)基因發(fā)生顯著突變,另有237個(gè)基因在≥2個(gè)標(biāo)本中發(fā)生突變。幾乎所有標(biāo)本至少有一處非同義突變發(fā)生在幾乎確認(rèn)和癌癥發(fā)生相關(guān)的九大類基因中的一類,包括轉(zhuǎn)錄因子融合(18%)、基因編碼核磷蛋白(NPM1)(27%)、腫瘤抑制基因(16%)、DNA甲基化相關(guān)基因(44%)、信號通路基因(59%)、染色體-修飾基因(30%)、髓細(xì)胞轉(zhuǎn)錄因子基因(22%)、粘連蛋白復(fù)合物基因(13%)及剪接體復(fù)合物基因(14%)。相互協(xié)同及排斥模式表明幾種基因和類別間有較強(qiáng)的生物學(xué)聯(lián)系。結(jié)論研究者在幾乎所有AML樣本中識別出至少1個(gè)具有潛在驅(qū)動(dòng)作用的突變,并且發(fā)現(xiàn)復(fù)雜的遺傳事件相互作用與個(gè)別AML患者發(fā)病有關(guān)。本研究數(shù)據(jù)可廣泛用于今后對AML發(fā)病機(jī)制、分級和危險(xiǎn)分層的進(jìn)一步調(diào)查中。
[Abstract]:Background A number of gene mutations leading to acute myeloid leukemia (AML) have not been identified. The relationship between mutation patterns and epigenetic phenotypes is unclear. Methods the genomes of 200 adult patients who were clinically interpreted as new AML were analyzed by whole genome sequencing (50 cases) or total exon sequencing (150 cases). RNAs, small molecule RNA sequencing and DNA methylation analysis were used. Results the number of mutations in AML genome was less than that in other adult cancers, with an average of only 13 genes mutated. On average, 5 of these genes had multiple mutations, 23 had significant mutations, and another 237 had mutations in 鈮，

本文編號：2092690