目的:研究相关基因在肾透明细胞癌中的表达变化,评价相关基因与肾透明细胞癌的关系及其对预后的影响。方法:在TCGA(The Cancer Genome Atlas)数据库中配对肾透明细胞癌组织和正常肾细胞组织相关基因表达谱数据,通过数据挖掘技术挖掘相...目的:研究相关基因在肾透明细胞癌中的表达变化,评价相关基因与肾透明细胞癌的关系及其对预后的影响。方法:在TCGA(The Cancer Genome Atlas)数据库中配对肾透明细胞癌组织和正常肾细胞组织相关基因表达谱数据,通过数据挖掘技术挖掘相关基因(VHL,PBRM1,TTN,SETD2,BAP1)与肾透明细胞癌表达及预后的关系。结果:相对比正常肾透明细胞组织,VHL,PBRM1,SETD2,BAP1均呈低表达,TTN呈高表达,通过建立相关生存曲线,可知PBRM1低表达与TTN高表达能够减少肾透明细胞癌患者的生存时间,而VHL、SETD2、BAP1基因低表达与肾透明细胞癌患者的生存时间无统计学差异。结论:PBRM1的低表达与TTN高表达是影响肾透明细胞癌预后的不良因素,因此PRBM1、TTN基因的表达对判断肾透明细胞癌患者的生存预后具有参考价值。展开更多
Familial dilated cardiomyopathy(DCM)is associated with numerous genes,especially those of the sarcomere family.The titin gene(TTN)consists of 365 exons and encodes the largest sarcomere protein(titin)in our bodies.Tit...Familial dilated cardiomyopathy(DCM)is associated with numerous genes,especially those of the sarcomere family.The titin gene(TTN)consists of 365 exons and encodes the largest sarcomere protein(titin)in our bodies.Titin is associated with many diseases,such as hypertrophic cardiomyopathy and DCM.Here we screened three Chinese families affected by DCM,and found that each harbors a stop-gain or splice site mutation in TTN(c.G20137T,c.G52522T,c.44610-2A>C).Assessment of the probands by electrocardiogram,B-mode echocardiography,and cardiac magnetic resonance imaging revealed impaired cardiac function,arrhythmia,or abnormal cardiac structure.In conclusion,using whole exome sequencing,we found three unreported TTN mutations associated with DCM.This has expanded the TTN mutation spectrum of Chinese DCM patients,especially in Henan,the most populous province.These data provide new genetic targets for the diagnosis and treatment of DCM,and will increase our understanding of the relationship between TTN mutation and DCM clinical symptoms.展开更多
为了建立一种用于研究肌肉和心脏发育及其相关疾病的绿色荧光蛋白(enhanced green fluorescent protein,EGFP)转基因斑马鱼品系,本研究使用斑马鱼ttn.2基因编码区上游启动子序列和绿色荧光蛋白基因编码序列构建了重组表达载体,并将该载...为了建立一种用于研究肌肉和心脏发育及其相关疾病的绿色荧光蛋白(enhanced green fluorescent protein,EGFP)转基因斑马鱼品系,本研究使用斑马鱼ttn.2基因编码区上游启动子序列和绿色荧光蛋白基因编码序列构建了重组表达载体,并将该载体和Tol2转座酶的加帽mRNA显微共注射入斑马鱼1-细胞期胚胎,通过荧光检测、遗传杂交筛选和分子鉴定等方法,成功建立了能稳定遗传的Tg(ttn.2:EGFP)转基因斑马鱼品系。荧光表达分析及原位杂交分析结果表明,绿色荧光信号在斑马鱼肌肉和心脏组织中特异表达模式与ttn.2基因的mRNA表达一致。通过反向PCR鉴定转基因表达载体在F1代斑马鱼品系中的随机整合位点,结果表明:No.33转基因品系的EGFP基因整合在斑马鱼的4号和11号染色体上,No.34转基因品系则整合在1号染色体上。该荧光转基因斑马鱼品系Tg(ttn.2:EGFP)的成功构建为肌肉和心脏发育以及相关疾病研究提供了一个新的理想实验模型。此外,绿色荧光强烈表达的斑马鱼品系还可以作为一种新的观赏鱼。展开更多
文摘目的:研究相关基因在肾透明细胞癌中的表达变化,评价相关基因与肾透明细胞癌的关系及其对预后的影响。方法:在TCGA(The Cancer Genome Atlas)数据库中配对肾透明细胞癌组织和正常肾细胞组织相关基因表达谱数据,通过数据挖掘技术挖掘相关基因(VHL,PBRM1,TTN,SETD2,BAP1)与肾透明细胞癌表达及预后的关系。结果:相对比正常肾透明细胞组织,VHL,PBRM1,SETD2,BAP1均呈低表达,TTN呈高表达,通过建立相关生存曲线,可知PBRM1低表达与TTN高表达能够减少肾透明细胞癌患者的生存时间,而VHL、SETD2、BAP1基因低表达与肾透明细胞癌患者的生存时间无统计学差异。结论:PBRM1的低表达与TTN高表达是影响肾透明细胞癌预后的不良因素,因此PRBM1、TTN基因的表达对判断肾透明细胞癌患者的生存预后具有参考价值。
基金the National Key R&D Program of China(grant no.018YFC1312505 to X.Z.)the Henan University of Chinese Medicine(grant no.00104311-2019-55 to J.M.).
文摘Familial dilated cardiomyopathy(DCM)is associated with numerous genes,especially those of the sarcomere family.The titin gene(TTN)consists of 365 exons and encodes the largest sarcomere protein(titin)in our bodies.Titin is associated with many diseases,such as hypertrophic cardiomyopathy and DCM.Here we screened three Chinese families affected by DCM,and found that each harbors a stop-gain or splice site mutation in TTN(c.G20137T,c.G52522T,c.44610-2A>C).Assessment of the probands by electrocardiogram,B-mode echocardiography,and cardiac magnetic resonance imaging revealed impaired cardiac function,arrhythmia,or abnormal cardiac structure.In conclusion,using whole exome sequencing,we found three unreported TTN mutations associated with DCM.This has expanded the TTN mutation spectrum of Chinese DCM patients,especially in Henan,the most populous province.These data provide new genetic targets for the diagnosis and treatment of DCM,and will increase our understanding of the relationship between TTN mutation and DCM clinical symptoms.
文摘为了建立一种用于研究肌肉和心脏发育及其相关疾病的绿色荧光蛋白(enhanced green fluorescent protein,EGFP)转基因斑马鱼品系,本研究使用斑马鱼ttn.2基因编码区上游启动子序列和绿色荧光蛋白基因编码序列构建了重组表达载体,并将该载体和Tol2转座酶的加帽mRNA显微共注射入斑马鱼1-细胞期胚胎,通过荧光检测、遗传杂交筛选和分子鉴定等方法,成功建立了能稳定遗传的Tg(ttn.2:EGFP)转基因斑马鱼品系。荧光表达分析及原位杂交分析结果表明,绿色荧光信号在斑马鱼肌肉和心脏组织中特异表达模式与ttn.2基因的mRNA表达一致。通过反向PCR鉴定转基因表达载体在F1代斑马鱼品系中的随机整合位点,结果表明:No.33转基因品系的EGFP基因整合在斑马鱼的4号和11号染色体上,No.34转基因品系则整合在1号染色体上。该荧光转基因斑马鱼品系Tg(ttn.2:EGFP)的成功构建为肌肉和心脏发育以及相关疾病研究提供了一个新的理想实验模型。此外,绿色荧光强烈表达的斑马鱼品系还可以作为一种新的观赏鱼。
