肺癌是全球死亡第一位的恶性肿瘤，其发生是多步骤、多阶段的病理过程，与调控细胞生存、凋亡、细胞问通信、细胞微环境的改变等相关的基因和基因表型改变有关，细胞的凋亡在肿瘤的发生过程中起着重要的作用。PUMA（p53up-regulated mod...肺癌是全球死亡第一位的恶性肿瘤，其发生是多步骤、多阶段的病理过程，与调控细胞生存、凋亡、细胞问通信、细胞微环境的改变等相关的基因和基因表型改变有关，细胞的凋亡在肿瘤的发生过程中起着重要的作用。PUMA（p53up-regulated modulator of apoptosis）是bcl-2家族BH3only亚家族中的成员，是053介导的下游促凋亡基因，展开更多
目的比较一代表皮生长因子受体酪氨酸激酶抑制剂(EGFR-TKIs)联合化疗对两种表皮生长因子受体(EGFR)经典突变非小细胞肺癌(NSCLC)的疗效。方法选取2017年4月至2019年12月郑州大学第一附属医院肿瘤科收治的34例EGFR经典突变的晚期NSCLC患...目的比较一代表皮生长因子受体酪氨酸激酶抑制剂(EGFR-TKIs)联合化疗对两种表皮生长因子受体(EGFR)经典突变非小细胞肺癌(NSCLC)的疗效。方法选取2017年4月至2019年12月郑州大学第一附属医院肿瘤科收治的34例EGFR经典突变的晚期NSCLC患者。患者均接受一代EGFR-TKIs联合化疗治疗。按基因突变种类将患者分为两组,即EGFR基因19外显子缺失突变(19Del突变)为A组(18例),EGFR基因21外显子L858R点突变(21L858R突变)为B组(16例)。研究的主要终点为中位无进展生存时间(PFS)和1 a PFS率,次要终点为客观缓解率(ORR)。比较两组不良反应。结果治疗后,B组ORR[25.0%(4/16)]较A组[88.9%(16/18)]低(P<0.05)。B组1 a PFS率[25.0%(4/16)]与A组[44.4%(8/18)]比较,差异无统计学意义(P>0.05)。B组中位PFS短于A组(P<0.05)。两组不良反应发生率比较,差异无统计学意义(P>0.05)。结论接受一代EGFR-TKIs联合化疗治疗的EGFR基因19Del突变的NSCLC患者较EGFR基因21L858R突变患者的PFS更长。展开更多
As a specific gene of fish,cytochrome P450c17-Ⅱ(CYP17-Ⅱ) gene plays a key role in the growth,development and reproduction level of fish.In this study,the single-stranded conformational polymorphism(SSCP) technique w...As a specific gene of fish,cytochrome P450c17-Ⅱ(CYP17-Ⅱ) gene plays a key role in the growth,development and reproduction level of fish.In this study,the single-stranded conformational polymorphism(SSCP) technique was used to characterize polymorphisms within the coding region of CYP17-Ⅱ gene in a population of 75 male Japanese flounder(Paralichthys olivaceus).Three single nucleotide polymorphisms(SNPs) were identified in CYP17-Ⅱ gene of Japanese flounder.They were c.G594A(p.G188R),c.G939A and c.G1502A(p.G490D).SNP1(c.G594A),located in exon 4 of CYP17-Ⅱ gene,was significantly associated with gonadosomatic index(GSI).Individuals with genotype GG of SNP1 had significantly lower GSI(P < 0.05) than those with geno-type AA or AG.SNP2(c.G939A) located at the CpG island of CYP17-Ⅱ gene.The mutation changed the methylation of exon 6.Indi-viduals with genotype AA of SNP2 had significantly lower serum testosterone(T) level and hepatosomatic index(HSI) compared to those with genotype GG.The results suggested that SNP2 could influence the reproductive endocrine of male Japanese flounder.How-ever,the SNP3(c.G1502A) located in exon 9 did not affect the four measured reproductive traits.This study showed that CYP17-Ⅱ gene could be a potentially useful candidate gene for the research of genetic breeding and physiological aspects of Japanese flounder.展开更多
Exon 7 of the l’henylalan1ne hydroxylase (PAH) gene was analyzed in 15 chlldren affected wlth classicphenylketonL1rla (PKU) from northern Chlna by uslng PCRxsingle strand conformation polymorphism(PCR-SSCP) technique...Exon 7 of the l’henylalan1ne hydroxylase (PAH) gene was analyzed in 15 chlldren affected wlth classicphenylketonL1rla (PKU) from northern Chlna by uslng PCRxsingle strand conformation polymorphism(PCR-SSCP) technique and DNA direct sequencing. Six missense mutatlons (l. e. R2413Q. R 241H, G247V,1,2 19H, F2541;lnd G257V )and one silent rnutatlon (V245v ) were identified. The latter three missense mu-tations were demonstrated as novel mltations in comparison with the PAH mutation database. one missense mt1tation (R241 H) was flrst dowumeTlted in Chinese. our results showed populatlon ancl reglon tllffer-ences in the PAH mutation clistribution. and suggest that there is more thfln one founding population forPKU in China. The fincling of novel mutations will enhence the molecular diagnosis of PKU.展开更多
文摘肺癌是全球死亡第一位的恶性肿瘤，其发生是多步骤、多阶段的病理过程，与调控细胞生存、凋亡、细胞问通信、细胞微环境的改变等相关的基因和基因表型改变有关，细胞的凋亡在肿瘤的发生过程中起着重要的作用。PUMA（p53up-regulated modulator of apoptosis）是bcl-2家族BH3only亚家族中的成员，是053介导的下游促凋亡基因，
文摘目的比较一代表皮生长因子受体酪氨酸激酶抑制剂(EGFR-TKIs)联合化疗对两种表皮生长因子受体(EGFR)经典突变非小细胞肺癌(NSCLC)的疗效。方法选取2017年4月至2019年12月郑州大学第一附属医院肿瘤科收治的34例EGFR经典突变的晚期NSCLC患者。患者均接受一代EGFR-TKIs联合化疗治疗。按基因突变种类将患者分为两组,即EGFR基因19外显子缺失突变(19Del突变)为A组(18例),EGFR基因21外显子L858R点突变(21L858R突变)为B组(16例)。研究的主要终点为中位无进展生存时间(PFS)和1 a PFS率,次要终点为客观缓解率(ORR)。比较两组不良反应。结果治疗后,B组ORR[25.0%(4/16)]较A组[88.9%(16/18)]低(P<0.05)。B组1 a PFS率[25.0%(4/16)]与A组[44.4%(8/18)]比较,差异无统计学意义(P>0.05)。B组中位PFS短于A组(P<0.05)。两组不良反应发生率比较,差异无统计学意义(P>0.05)。结论接受一代EGFR-TKIs联合化疗治疗的EGFR基因19Del突变的NSCLC患者较EGFR基因21L858R突变患者的PFS更长。
基金supported by the Natural Science Foun-dation of Shandong Province,China(No.ZR2009DQ011)the New Teacher Special Fund of Doctor of the Ministry of Education of China(No.20090132120006)the Postdoctoral Innovative Projects of Shandong Province,China(No.200702039)
文摘As a specific gene of fish,cytochrome P450c17-Ⅱ(CYP17-Ⅱ) gene plays a key role in the growth,development and reproduction level of fish.In this study,the single-stranded conformational polymorphism(SSCP) technique was used to characterize polymorphisms within the coding region of CYP17-Ⅱ gene in a population of 75 male Japanese flounder(Paralichthys olivaceus).Three single nucleotide polymorphisms(SNPs) were identified in CYP17-Ⅱ gene of Japanese flounder.They were c.G594A(p.G188R),c.G939A and c.G1502A(p.G490D).SNP1(c.G594A),located in exon 4 of CYP17-Ⅱ gene,was significantly associated with gonadosomatic index(GSI).Individuals with genotype GG of SNP1 had significantly lower GSI(P < 0.05) than those with geno-type AA or AG.SNP2(c.G939A) located at the CpG island of CYP17-Ⅱ gene.The mutation changed the methylation of exon 6.Indi-viduals with genotype AA of SNP2 had significantly lower serum testosterone(T) level and hepatosomatic index(HSI) compared to those with genotype GG.The results suggested that SNP2 could influence the reproductive endocrine of male Japanese flounder.How-ever,the SNP3(c.G1502A) located in exon 9 did not affect the four measured reproductive traits.This study showed that CYP17-Ⅱ gene could be a potentially useful candidate gene for the research of genetic breeding and physiological aspects of Japanese flounder.
文摘Exon 7 of the l’henylalan1ne hydroxylase (PAH) gene was analyzed in 15 chlldren affected wlth classicphenylketonL1rla (PKU) from northern Chlna by uslng PCRxsingle strand conformation polymorphism(PCR-SSCP) technique and DNA direct sequencing. Six missense mutatlons (l. e. R2413Q. R 241H, G247V,1,2 19H, F2541;lnd G257V )and one silent rnutatlon (V245v ) were identified. The latter three missense mu-tations were demonstrated as novel mltations in comparison with the PAH mutation database. one missense mt1tation (R241 H) was flrst dowumeTlted in Chinese. our results showed populatlon ancl reglon tllffer-ences in the PAH mutation clistribution. and suggest that there is more thfln one founding population forPKU in China. The fincling of novel mutations will enhence the molecular diagnosis of PKU.
