期刊文献+
共找到2篇文章
< 1 >
每页显示 20 50 100
中国年轻肺腺癌患者基因特点研究 被引量:27
1
作者 梁宇 侯和磊 +3 位作者 姜曼 张传涛 刘栋 张晓春 《中国肺癌杂志》 CAS CSCD 北大核心 2020年第4期239-246,共8页
背景与目的全球肺癌的发病率正呈逐年上升趋势,其中腺癌所占的百分比日益升高。据统计,全球的肺癌平均初诊年龄在70岁左右,虽然肺癌仍以老年患者居多,但发病年龄的年轻化趋势愈加明显。结合现有研究数据,我们已知在非小细胞肺癌中,年轻... 背景与目的全球肺癌的发病率正呈逐年上升趋势,其中腺癌所占的百分比日益升高。据统计,全球的肺癌平均初诊年龄在70岁左右,虽然肺癌仍以老年患者居多,但发病年龄的年轻化趋势愈加明显。结合现有研究数据,我们已知在非小细胞肺癌中,年轻患者疾病的发生有其独特的生物学特点。但年轻肺腺癌患者的基因组学特性和临床特征仍有待确定。本研究采用高通量测序(next-generation sequencing technology,NGS)技术对中国年轻肺腺癌患者的基因突变状态进行了研究。方法共收集了89例年龄≤45岁的肺腺癌患者组织标本,所有患者均知情同意。使用NGS检测用于确定癌组织中驱动基因突变。此外,对同期行NGS检测的95例>45岁肺腺癌患者的基因组和临床病理特征进行回顾性分析。结果根据年龄分类对184例肺腺癌患者的驱动基因突变频率进行了分析,揭示了年龄≤45岁的年轻组患者的独特基因特征。其中间变淋巴瘤激酶(anaplastic lymphoma kinase,ALK)融合基因和人表皮生长因子受体-2(human epidermal growth factor receptor 2,HER2)基因的突变频率较高。而鼠类肉瘤病毒癌基因(kirsten rat sarcoma viral oncogene,KRAS)、丝氨酸/苏氨酸蛋白激酶11(serine/threonine kinase 11,STK11)和表皮生长因子受体(epidermal growth factor receptor,EGFR)20外显子突变的趋势则相反,这些突变在年龄>45岁的老年组中更为常见。此外,年轻组EGFR基因突变同时伴有肿瘤蛋白p53(tumor protein p53,TP53)基因突变较老年组更为普遍(81.6%vs 44.9%),这可能使其应用EGFR酪氨酸激酶抑制剂(EGFR-tyrosine kinase inhibitor,EGFR-TKI)后疗效较差。结论NGS分析显示年轻腺癌患者具有独特的基因突变特点。在年轻患者中发现EGFR/TP53共突变的频率较高,这些独特的基因组学特征对临床治疗有重要的指导意义。 展开更多
关键词 肺腺癌 年轻 高通量测序 基因图谱
下载PDF
Transcriptome analysis and candidate gene identification reveals insights into the molecular mechanisms of hypermelanosis in Chinese tongue sole(Cynoglossus semilaevis)
2
作者 Yangzhen Li Peng Cheng +4 位作者 Ming Li Yuanri Hu Zhongkai Cui chuantao zhang Songlin Chen 《Aquaculture and Fisheries》 2022年第6期601-609,共9页
Blind-side hypermelanosis has emerged as a major concern in flatfish aquaculture worldwide,including tongue sole(Cynoglossus semilaevis)in China.The causative gene and the molecular basis are still unclear.In this stu... Blind-side hypermelanosis has emerged as a major concern in flatfish aquaculture worldwide,including tongue sole(Cynoglossus semilaevis)in China.The causative gene and the molecular basis are still unclear.In this study,comparative transcriptome analyses were performed using different skin tissues of tongue sole:ocular-side normal(pigmented)skin,blind-side normal(non-pigmented)skin and blind-side hypermelanotic(pigmented)skin.Finally,60 key hypermelanosis-related genes were mined,providing potential candidate gene resources involved in blind-side hypermelanosis.These genes were selected based on the log2(FoldChange)and false discovery rate(FDR)values(with corresponding P-Values<0.05),and they were verified in other species to assess if they were directly or indirectly related to melanogenesis.The protein-protein interaction network of these 60 genes and the relationship between tyr and other key hypermelanosis-related genes were illustrated.The qRT-PCR validation of 16 differentially expressed genes(DEGs)showed that the data of qRT-PCR were consistent with those of RNA-seq.Further analyses revealed that the selected DEGs were significantly overrepresented in several pigment metabolic processes and in the melanogenesis pathway.Our results may imply that blind-side hypermelanosis is a pattern of environmental regulation of gene expression and adaptation in flatfish.Membrane transport proteins(such as OCA2 and SLC45A2)may serve as a“switch”for melanogenesis in tongue sole.Overall,this study provided novel insights into the molecular mechanism of hypermelanosis in flatfish species and will facilitate future selective breeding of tongue sole for this market-favoured trait in aquaculture. 展开更多
关键词 Cynoglossus semilaevis Hypermelanosis TRANSCRIPTOME FLATFISH
原文传递
上一页 1 下一页 到第
使用帮助 返回顶部