AIM:To screen mutations in the retinitis pigmentosa 1(RP1) gene and the rhodopsin(RHO) gene in Chinese patients with retinitis pigmentosa sine pigmento(RPSP)and describe the genotype-phenotype relationship of the muta...AIM:To screen mutations in the retinitis pigmentosa 1(RP1) gene and the rhodopsin(RHO) gene in Chinese patients with retinitis pigmentosa sine pigmento(RPSP)and describe the genotype-phenotype relationship of the mutations.·METHODS:Twenty affected,unrelated Chinese individuals with RPSP(4 autosomal dominant RPSP,12autosomal recessive RPSP and 4 unknown inheritance pattern) were recruited between 2009 and 2012.The clinical features were determined by complete ophthalmologic examinations.Polymerase chain reaction(PCR) and direct DNA sequencing were used to screen the entire coding region and splice junctions of the RP1gene and the RHO gene.The cosegregation analysis and population frequency studies were performed for patients with identified mutations.·RESULTS:Five variants in the RP1 gene and one in the RHO gene were detected in 20 probands.Four missense changes(rs444772,rs446227,rs414352,rs441800) and one non-coding variant(rs56340615) were common SNPs and none of them showed a significant relationship with RPSP.A missense mutation p.R1443W was identified in the RP1 gene in three affected individuals from a family with autosomal dominant RPSP and was found to cosegregate with the phenotype in this family,suggestive of pathogenic.In addition,population frequency analysis showed the p.R1443W mutation was absent in 300 healthy controls.·CONCLUSION:The identification of p.R1443W mutationcosegregating in a family with autosomal dominant RPSP highlights an atypical phenotype of the RP1 gene mutation,while RHO gene is not associated with the pathogenesis of RPSP in this study.To our knowledge,this is the fist mutation identified to associate with RPSP.展开更多
目的：研究核糖体蛋白S15a（ribosomal protein S15a RPS15a）基因在胃癌及癌旁组织中表达差异，为进一步了解胃癌发生、发展的分子机制提供帮助。方法应用荧光定量PCR等方法进一步验证该基因在胃癌及癌旁组织中的表达差异，并在多种肿...目的：研究核糖体蛋白S15a（ribosomal protein S15a RPS15a）基因在胃癌及癌旁组织中表达差异，为进一步了解胃癌发生、发展的分子机制提供帮助。方法应用荧光定量PCR等方法进一步验证该基因在胃癌及癌旁组织中的表达差异，并在多种肿瘤细胞中的表达量进行比较。结果该基因在胃癌组织中的表达量高于其对应的癌旁组织，但在多种肿瘤细胞中的表达量无显著差异。结论 RPS15a基因在胃癌中呈高表达，说明其可能与细胞恶性生物学行为相关。在多种肿瘤细胞中表达量无显著差异，推测其可能在恶性肿瘤中的高表达具有普遍性。展开更多
以吸水链霉菌17997为出发菌株,分别阻断格尔德霉素(geldanamycin,GA)生物合成酶基因簇中的I型聚酮合酶(type I polyketide synthase,pks)基因的第6模块,单加氧酶(monooxygenase,gdmM)基因和氨甲酰基转移酶(carbamoyltransferase,ct)基...以吸水链霉菌17997为出发菌株,分别阻断格尔德霉素(geldanamycin,GA)生物合成酶基因簇中的I型聚酮合酶(type I polyketide synthase,pks)基因的第6模块,单加氧酶(monooxygenase,gdmM)基因和氨甲酰基转移酶(carbamoyltransferase,ct)基因得到3种变株(pks-)、(gdmM-)和(ct-)。比较变株与原株发酵产物的H PLC谱型,结合紫外吸收图谱分析。检测结果表明各变株的GA生物合成均被阻断,并产生3个不同于原始菌株的新物质。这证明基因操作所涉及的pks,gdm M和ct基因是GA生物合成的必需基因;这些基因的阻断可产生不同于原株的新物质。HPLC谱型比较可以在多样化代谢产物的产生菌中快速、准确地发现基因工程变株发酵产物的变化,指导新化合物的分离鉴定,样品用量甚微,是化学早期鉴别的有力工具。展开更多
Retinitis pigmentosa (RP),a progressive degeneration of the retina characterized by function loss of photoreceptors and retinal pigment epithelia,is one of the most frequent hereditary causes of blindness.RP therapy i...Retinitis pigmentosa (RP),a progressive degeneration of the retina characterized by function loss of photoreceptors and retinal pigment epithelia,is one of the most frequent hereditary causes of blindness.RP therapy is always a difficult problem in the field of ophthalmology.By far there has been few successful report on RP clinical study.The undergoing pathways are mainly:(1)transplantation of retinal cells;(2) gene therapy;(3) application of cell growth factors.This review will emphasize on the development in pre\|clinical investigation of the three aspects mentioned above and in retinal drug delivery systems.\;展开更多
基金Ningxia Scientific and Technological Projects from Department of Science and Technology in Ningxia Hui Autonomous Region (No.2011ZYS175)
文摘AIM:To screen mutations in the retinitis pigmentosa 1(RP1) gene and the rhodopsin(RHO) gene in Chinese patients with retinitis pigmentosa sine pigmento(RPSP)and describe the genotype-phenotype relationship of the mutations.·METHODS:Twenty affected,unrelated Chinese individuals with RPSP(4 autosomal dominant RPSP,12autosomal recessive RPSP and 4 unknown inheritance pattern) were recruited between 2009 and 2012.The clinical features were determined by complete ophthalmologic examinations.Polymerase chain reaction(PCR) and direct DNA sequencing were used to screen the entire coding region and splice junctions of the RP1gene and the RHO gene.The cosegregation analysis and population frequency studies were performed for patients with identified mutations.·RESULTS:Five variants in the RP1 gene and one in the RHO gene were detected in 20 probands.Four missense changes(rs444772,rs446227,rs414352,rs441800) and one non-coding variant(rs56340615) were common SNPs and none of them showed a significant relationship with RPSP.A missense mutation p.R1443W was identified in the RP1 gene in three affected individuals from a family with autosomal dominant RPSP and was found to cosegregate with the phenotype in this family,suggestive of pathogenic.In addition,population frequency analysis showed the p.R1443W mutation was absent in 300 healthy controls.·CONCLUSION:The identification of p.R1443W mutationcosegregating in a family with autosomal dominant RPSP highlights an atypical phenotype of the RP1 gene mutation,while RHO gene is not associated with the pathogenesis of RPSP in this study.To our knowledge,this is the fist mutation identified to associate with RPSP.
文摘目的：研究核糖体蛋白S15a（ribosomal protein S15a RPS15a）基因在胃癌及癌旁组织中表达差异，为进一步了解胃癌发生、发展的分子机制提供帮助。方法应用荧光定量PCR等方法进一步验证该基因在胃癌及癌旁组织中的表达差异，并在多种肿瘤细胞中的表达量进行比较。结果该基因在胃癌组织中的表达量高于其对应的癌旁组织，但在多种肿瘤细胞中的表达量无显著差异。结论 RPS15a基因在胃癌中呈高表达，说明其可能与细胞恶性生物学行为相关。在多种肿瘤细胞中表达量无显著差异，推测其可能在恶性肿瘤中的高表达具有普遍性。
文摘Retinitis pigmentosa (RP),a progressive degeneration of the retina characterized by function loss of photoreceptors and retinal pigment epithelia,is one of the most frequent hereditary causes of blindness.RP therapy is always a difficult problem in the field of ophthalmology.By far there has been few successful report on RP clinical study.The undergoing pathways are mainly:(1)transplantation of retinal cells;(2) gene therapy;(3) application of cell growth factors.This review will emphasize on the development in pre\|clinical investigation of the three aspects mentioned above and in retinal drug delivery systems.\;
