45,X/46,XY染色体嵌合是临床上比较少见的疾病,具有这种嵌合核型的患者可表现为男性或者女性外观,临床特征相似于特纳综合征(Turner syndrome,Turner综合征),但症状轻于Turner综合征。报告1例因不育就诊的男性表型患者,经G显带染色体核...45,X/46,XY染色体嵌合是临床上比较少见的疾病,具有这种嵌合核型的患者可表现为男性或者女性外观,临床特征相似于特纳综合征(Turner syndrome,Turner综合征),但症状轻于Turner综合征。报告1例因不育就诊的男性表型患者,经G显带染色体核型分析和全基因组拷贝数变异(copy number variation,CNV)技术分析患者外周血提取的DNA,染色体核型诊断为45,X/46,XY嵌合型,外周血淋巴细胞染色体核型共分析50个染色体核型,核型诊断结果为45,X[27]/46,XY[23],全基因组CNV检测结果为-(mosaic)(Y)(64%),Y染色体微缺失检测结果为未见明显异常。45,X/46,XY染色体嵌合型男性表型案例较少,本例患者身材矮小,生殖器畸形,是临床表型较轻的男性表型患者。展开更多
The mechanism of vegetation restoration on degraded karst regions has been a research focus of soil science and ecology for the last decade.In an attempt to preferably interpret the soil microbiological characteristic...The mechanism of vegetation restoration on degraded karst regions has been a research focus of soil science and ecology for the last decade.In an attempt to preferably interpret the soil microbiological characteristic variation associated with vegetation restoration and further to explore the role of soil microbiology in vegetation restoration mechanism of degraded karst regions,we measured microbial biomass C and basal respiration in soils during vegetation restoration in Zhenfeng County of southwestern Guizhou Province,China.The community level physiological profiles(CLPP) of the soil microbial community to were estimated determine if vegetation changes were accompanied by changes in functioning of soil microbial communities.The results showed that soil microbial biomass C and microbial quotient(microbial biomass C/organic C) tended to increase with vegetation restoration,being in the order arboreal community stage > shrubby community stage > herbaceous community stage > bare land stage.Similar trend was found in the change of basal respiration(BR).The metabolic quotient(the ratio of basal respiration to microbial biomass,qCO 2) decreased with vegetation restoration,and remained at a constantly low level in the arboreal community stage.Analyses of the CLPP data indicated that vegetation restoration tended to result in higher average well color development,substrate richness,and functional diversity.Average utilization of specific substrate guilds was highest in the arboreal community stage.Principle component analysis of the CLPP data further indicated that the arboreal community stage was distinctly different from the other three stages.In conclusion,vegetation restoration improved soil microbial biomass C,respiration,and utilization of carbon sources,and decreased qCO 2,thus creating better soil conditions,which in turn could promote the restoration of vegetation on degraded karst regions.展开更多
文摘45,X/46,XY染色体嵌合是临床上比较少见的疾病,具有这种嵌合核型的患者可表现为男性或者女性外观,临床特征相似于特纳综合征(Turner syndrome,Turner综合征),但症状轻于Turner综合征。报告1例因不育就诊的男性表型患者,经G显带染色体核型分析和全基因组拷贝数变异(copy number variation,CNV)技术分析患者外周血提取的DNA,染色体核型诊断为45,X/46,XY嵌合型,外周血淋巴细胞染色体核型共分析50个染色体核型,核型诊断结果为45,X[27]/46,XY[23],全基因组CNV检测结果为-(mosaic)(Y)(64%),Y染色体微缺失检测结果为未见明显异常。45,X/46,XY染色体嵌合型男性表型案例较少,本例患者身材矮小,生殖器畸形,是临床表型较轻的男性表型患者。
基金Supported by the National Basic Research Program (973 Program) of China (No. 2006CB403206)the Key Project in the NationalScience & Technology Pillar Program in the Eleventh Five-year Plan Period of China (Nos. 2006BAC01A09 and 2006BAD03A1006)National Natural Science Foundation of China (No. 30872076)
文摘The mechanism of vegetation restoration on degraded karst regions has been a research focus of soil science and ecology for the last decade.In an attempt to preferably interpret the soil microbiological characteristic variation associated with vegetation restoration and further to explore the role of soil microbiology in vegetation restoration mechanism of degraded karst regions,we measured microbial biomass C and basal respiration in soils during vegetation restoration in Zhenfeng County of southwestern Guizhou Province,China.The community level physiological profiles(CLPP) of the soil microbial community to were estimated determine if vegetation changes were accompanied by changes in functioning of soil microbial communities.The results showed that soil microbial biomass C and microbial quotient(microbial biomass C/organic C) tended to increase with vegetation restoration,being in the order arboreal community stage > shrubby community stage > herbaceous community stage > bare land stage.Similar trend was found in the change of basal respiration(BR).The metabolic quotient(the ratio of basal respiration to microbial biomass,qCO 2) decreased with vegetation restoration,and remained at a constantly low level in the arboreal community stage.Analyses of the CLPP data indicated that vegetation restoration tended to result in higher average well color development,substrate richness,and functional diversity.Average utilization of specific substrate guilds was highest in the arboreal community stage.Principle component analysis of the CLPP data further indicated that the arboreal community stage was distinctly different from the other three stages.In conclusion,vegetation restoration improved soil microbial biomass C,respiration,and utilization of carbon sources,and decreased qCO 2,thus creating better soil conditions,which in turn could promote the restoration of vegetation on degraded karst regions.
