AIM: To identify the mutations in RS1 gene associated with typical phenotype of X-linked juvenile retinoschisis(XLRS) and a rare condition of concomitant glaucoma. ·METHODS: Complete ophthalmic examinations were ...AIM: To identify the mutations in RS1 gene associated with typical phenotype of X-linked juvenile retinoschisis(XLRS) and a rare condition of concomitant glaucoma. ·METHODS: Complete ophthalmic examinations were performed in the proband. The coding regions of the RS1 gene that encode retinoschisin were amplified by polymerase chain reaction and directly sequenced. ·RESULTS: The proband showed a typical phenotype of XLRS with large peripheral retinal schisis in both eyes,involving the macula and combined with foveal cystic change,reducing visual acuity. A typical phenotype of recurrent glaucoma with high intraocular pressure(IOP) and reduced visual field was also demonstrated with the patient. Mutation analysis of RS1 gene revealed R102W(c.304C】T) mutations in the affected male,and his mother was proved to be a carrier with the causative mutation and another synonymous polymorphism(c.576C】CT). ·CONCLUSION: We identified the genetic variations of a Chinese family with typical phenotype of XLRS and glaucoma. The severe XLRS phenotypes associated with R102W mutations reveal that the mutation determines a notable alteration in the function of the retinoschisin protein. Identification of the disease-causing mutation is beneficial for future clinical references.展开更多
建立病变组织分类模型的关键在于找出一组能准确区分样本类别的特征基因。糙集理论中的属性依赖度分析方法能对目标数据进行有效分析。基于属性间的依赖关系和属性对决策的影响存在这样的关系,即属性依赖度越大,属性就越重要,对决策划...建立病变组织分类模型的关键在于找出一组能准确区分样本类别的特征基因。糙集理论中的属性依赖度分析方法能对目标数据进行有效分析。基于属性间的依赖关系和属性对决策的影响存在这样的关系,即属性依赖度越大,属性就越重要,对决策划分的影响就越大,提出了一种属性最大依赖度(maximum dependency ofattributes based on rough sets,MDA-RS)算法,并将其应用于特征基因选取。首先用启发式K-均值聚类算法对基因进行聚类分析得到类数为k的基因子集;然后用MDA-RS选出每类的主基因,汇合每类的主基因作为样本的分类特征基因组;最后以支持向量机为分类工具、结肠癌基因表达谱为实验数据进行实验分析可行性和算法性能。实验结果表明,该方法可行有效,在不降低分类能力的基础上提取的特征基因包含有与疾病分类相关的重要基因。展开更多
[Objective] This study aimed to construct RNAi expression vector against r/boflavin synthase （RS） gene. [Method] By using the primers designed based on RS gone coding sequence that was screened from Arabidopsis cDNA...[Objective] This study aimed to construct RNAi expression vector against r/boflavin synthase （RS） gene. [Method] By using the primers designed based on RS gone coding sequence that was screened from Arabidopsis cDNA library, the 476 bp cDNA fragment of RS was amplified from pGADTT-RS recombinant plasmid, and then cloned into pUCm-T vector to obtain pUCm-RS. Two RS fragments （476 bp） were obtained through digesting pUCm-RS with restriction enzymes PstI/BamHI and PstI / Xhol, and then respectively connected into vector pBSSK-in to form pBSSK-RS-in-RS, in which the two RS fragments were inverted re- peats. Finally, the transform unit RS-intron-RS, got by digesting vector pBSSK-RS-in-RS with Sac I and Kpn I, was ligated into expression vector pCAMBIA1301 to obtain the RS gene silencing vector. [ Result] The restriction enzyme digestion sequencing analysis proved that the RS gene silencing vector was successfully con- structed. [ Conclusion] This study may provide a basic material for further studies on the bio-function of RS gene and the mechanism of signal transduction induced by HpaGxoo in plant.展开更多
基金Supported by the National Key Basic Research Program(2013CB967502,2013CB967503)Most Major Projects(2012YQ12008004)+1 种基金Qianjiang Talents Project(2012R10072)Zhejiang Provincial Natural Science Foundation of China(No.LR13H120001)
文摘AIM: To identify the mutations in RS1 gene associated with typical phenotype of X-linked juvenile retinoschisis(XLRS) and a rare condition of concomitant glaucoma. ·METHODS: Complete ophthalmic examinations were performed in the proband. The coding regions of the RS1 gene that encode retinoschisin were amplified by polymerase chain reaction and directly sequenced. ·RESULTS: The proband showed a typical phenotype of XLRS with large peripheral retinal schisis in both eyes,involving the macula and combined with foveal cystic change,reducing visual acuity. A typical phenotype of recurrent glaucoma with high intraocular pressure(IOP) and reduced visual field was also demonstrated with the patient. Mutation analysis of RS1 gene revealed R102W(c.304C】T) mutations in the affected male,and his mother was proved to be a carrier with the causative mutation and another synonymous polymorphism(c.576C】CT). ·CONCLUSION: We identified the genetic variations of a Chinese family with typical phenotype of XLRS and glaucoma. The severe XLRS phenotypes associated with R102W mutations reveal that the mutation determines a notable alteration in the function of the retinoschisin protein. Identification of the disease-causing mutation is beneficial for future clinical references.
文摘建立病变组织分类模型的关键在于找出一组能准确区分样本类别的特征基因。糙集理论中的属性依赖度分析方法能对目标数据进行有效分析。基于属性间的依赖关系和属性对决策的影响存在这样的关系,即属性依赖度越大,属性就越重要,对决策划分的影响就越大,提出了一种属性最大依赖度(maximum dependency ofattributes based on rough sets,MDA-RS)算法,并将其应用于特征基因选取。首先用启发式K-均值聚类算法对基因进行聚类分析得到类数为k的基因子集;然后用MDA-RS选出每类的主基因,汇合每类的主基因作为样本的分类特征基因组;最后以支持向量机为分类工具、结肠癌基因表达谱为实验数据进行实验分析可行性和算法性能。实验结果表明,该方法可行有效,在不降低分类能力的基础上提取的特征基因包含有与疾病分类相关的重要基因。
基金Supported by the Doctor Fund of Langfang Teachers College ( LSZB201002)
文摘[Objective] This study aimed to construct RNAi expression vector against r/boflavin synthase （RS） gene. [Method] By using the primers designed based on RS gone coding sequence that was screened from Arabidopsis cDNA library, the 476 bp cDNA fragment of RS was amplified from pGADTT-RS recombinant plasmid, and then cloned into pUCm-T vector to obtain pUCm-RS. Two RS fragments （476 bp） were obtained through digesting pUCm-RS with restriction enzymes PstI/BamHI and PstI / Xhol, and then respectively connected into vector pBSSK-in to form pBSSK-RS-in-RS, in which the two RS fragments were inverted re- peats. Finally, the transform unit RS-intron-RS, got by digesting vector pBSSK-RS-in-RS with Sac I and Kpn I, was ligated into expression vector pCAMBIA1301 to obtain the RS gene silencing vector. [ Result] The restriction enzyme digestion sequencing analysis proved that the RS gene silencing vector was successfully con- structed. [ Conclusion] This study may provide a basic material for further studies on the bio-function of RS gene and the mechanism of signal transduction induced by HpaGxoo in plant.
