目的:探讨低深度全基因组测序技术(copy number variation sequencing,CNV-seq)对于检测自然流产物中的染色体异常和拷贝数变异(copy number variations,CNVs)的应用价值。方法:对67例流产物进行CNV-seq检测,分析流产的遗传学因素。结果...目的:探讨低深度全基因组测序技术(copy number variation sequencing,CNV-seq)对于检测自然流产物中的染色体异常和拷贝数变异(copy number variations,CNVs)的应用价值。方法:对67例流产物进行CNV-seq检测,分析流产的遗传学因素。结果:本研究共检测67例流产组织,成功检测67例,成功率为100.00%,染色体结果异常共49例,异常检出率为73.13%,其中染色体数目异常28例、嵌合体8例、CNVs 13例,其中发生频率最高的四种异常依次是:45,X综合征、16-三体、21-三体和22-三体。结论:染色体异常是胚胎停育的最重要原因,CNV-seq可以检测出常规染色体异常和染色体核型分析无法发现的CNVs,推荐临床上使用对流产物进行CNV-seq检测,可以为患者提供更全面的遗传咨询。展开更多
The accumulation of organic matter in substratum pores is regarded as an important factor causing clogging separately in the subsurface flow constructed wetlands.In this study,the developing process of clogging caused...The accumulation of organic matter in substratum pores is regarded as an important factor causing clogging separately in the subsurface flow constructed wetlands.In this study,the developing process of clogging caused by biofilm growth or organic particle accumulation instead of total organic matter accumulation was investigated in two groups of lab-scale vertical flow constructed wetlands（VFCWs）,which were fed with glucose（dissolved organic matter） and starch（particulate organic matter） influent.Results showed that the growth of biofilms within the substratum pores certainly caused remarkable reduction of effective porosity,especially for the strong organic wastewater,whereas its influence on infiltration rate was negligible.It was implied that the most important contribution of biofilm growth to clogging was accelerating the occurrence of clogging.In comparison with biofilm growth,particles accumulation within pores could rapidly reduce infiltration rate besides effective porosity and the clogging occurred in the upper 0-15 cm layer.With approximately equal amount of accumulated organic matter,the effective porosity of the clogged layer in starch-fed systems was far less than that of glucose-fed systems,which indicated that composition and accumulation mode in addition to the amount of the accumulated organic matter played an important role in causing clogging.展开更多
文摘目的:探讨低深度全基因组测序技术(copy number variation sequencing,CNV-seq)对于检测自然流产物中的染色体异常和拷贝数变异(copy number variations,CNVs)的应用价值。方法:对67例流产物进行CNV-seq检测,分析流产的遗传学因素。结果:本研究共检测67例流产组织,成功检测67例,成功率为100.00%,染色体结果异常共49例,异常检出率为73.13%,其中染色体数目异常28例、嵌合体8例、CNVs 13例,其中发生频率最高的四种异常依次是:45,X综合征、16-三体、21-三体和22-三体。结论:染色体异常是胚胎停育的最重要原因,CNV-seq可以检测出常规染色体异常和染色体核型分析无法发现的CNVs,推荐临床上使用对流产物进行CNV-seq检测,可以为患者提供更全面的遗传咨询。
基金supported by the Natural Science Foundation of Jiangsu Province (No.BK2006710)
文摘The accumulation of organic matter in substratum pores is regarded as an important factor causing clogging separately in the subsurface flow constructed wetlands.In this study,the developing process of clogging caused by biofilm growth or organic particle accumulation instead of total organic matter accumulation was investigated in two groups of lab-scale vertical flow constructed wetlands（VFCWs）,which were fed with glucose（dissolved organic matter） and starch（particulate organic matter） influent.Results showed that the growth of biofilms within the substratum pores certainly caused remarkable reduction of effective porosity,especially for the strong organic wastewater,whereas its influence on infiltration rate was negligible.It was implied that the most important contribution of biofilm growth to clogging was accelerating the occurrence of clogging.In comparison with biofilm growth,particles accumulation within pores could rapidly reduce infiltration rate besides effective porosity and the clogging occurred in the upper 0-15 cm layer.With approximately equal amount of accumulated organic matter,the effective porosity of the clogged layer in starch-fed systems was far less than that of glucose-fed systems,which indicated that composition and accumulation mode in addition to the amount of the accumulated organic matter played an important role in causing clogging.
