Fragile X tremor/ataxia syndrome (FXTAS) is a recently described condition co nsisting of tremor, ataxia, parkinsonism, and executive dysfunction, presenting predominantly in male carriers of a fragile X mental retard...Fragile X tremor/ataxia syndrome (FXTAS) is a recently described condition co nsisting of tremor, ataxia, parkinsonism, and executive dysfunction, presenting predominantly in male carriers of a fragile X mental retardation 1 premutation. In this report, we present premutation carrier sisters in whom severity of clini cal signs correlated with a molecular pattern of X-inactivation favoring highe r expression of the premutation allele. In these women with a common genetic bac kground, we suggest that symptom severity may be dictated by X-inactivation, a nd thus a higher percentage of cells producing the premutation-containing mRNA result in increased toxicity and disease.展开更多
生物碱与一些特殊的试剂作用生成沉淀。这些反应可用于生物碱的检测和精制。本文分别在同步辐射装置和微聚焦 X 射线成像系统上用 X 射线相衬成像(XPCI)方法研究了三种不同类型的生物碱沉淀的结构。研究结果显示:在 Hager 试剂作用下,...生物碱与一些特殊的试剂作用生成沉淀。这些反应可用于生物碱的检测和精制。本文分别在同步辐射装置和微聚焦 X 射线成像系统上用 X 射线相衬成像(XPCI)方法研究了三种不同类型的生物碱沉淀的结构。研究结果显示:在 Hager 试剂作用下,有机胺类的秋水仙碱沉淀呈针状,吡啶类的槟榔碱沉淀呈胶团状,异喹啉类的小檗碱沉淀呈花瓣状。与目测或在光学显微镜下观察到的形态有很大差别。为今后用 XPCI 方法研究更复杂的化学反应体系提供参考和依据。展开更多
文摘Fragile X tremor/ataxia syndrome (FXTAS) is a recently described condition co nsisting of tremor, ataxia, parkinsonism, and executive dysfunction, presenting predominantly in male carriers of a fragile X mental retardation 1 premutation. In this report, we present premutation carrier sisters in whom severity of clini cal signs correlated with a molecular pattern of X-inactivation favoring highe r expression of the premutation allele. In these women with a common genetic bac kground, we suggest that symptom severity may be dictated by X-inactivation, a nd thus a higher percentage of cells producing the premutation-containing mRNA result in increased toxicity and disease.
文摘生物碱与一些特殊的试剂作用生成沉淀。这些反应可用于生物碱的检测和精制。本文分别在同步辐射装置和微聚焦 X 射线成像系统上用 X 射线相衬成像(XPCI)方法研究了三种不同类型的生物碱沉淀的结构。研究结果显示:在 Hager 试剂作用下,有机胺类的秋水仙碱沉淀呈针状,吡啶类的槟榔碱沉淀呈胶团状,异喹啉类的小檗碱沉淀呈花瓣状。与目测或在光学显微镜下观察到的形态有很大差别。为今后用 XPCI 方法研究更复杂的化学反应体系提供参考和依据。
