目的:对1例产前B超提示骨骼系统发育异常,疑似宫内生长受限的胎儿进行基因检测及生物信息学分析以明确其致病原因。方法:采集胎儿羊水及父母外周血,提取基因组DNA,利用高通量测序平台进行家系全外显子组测序(whole exome sequencing,WES...目的:对1例产前B超提示骨骼系统发育异常,疑似宫内生长受限的胎儿进行基因检测及生物信息学分析以明确其致病原因。方法:采集胎儿羊水及父母外周血,提取基因组DNA,利用高通量测序平台进行家系全外显子组测序(whole exome sequencing,WES)及拷贝数变异测序(copy number variation sequencing,CNV-seq)技术检测,可疑结果经Sanger测序进行验证。结果:胎儿高迁移率族蛋白A2(high mobility group protein AT-Hook-2,HMGA2)基因存在c.223C>T(p.R75W)新发变异,导致氨基酸改变为p.R75W(p.Arg75Trp),为错义突变。根据美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMG)指南评级,该变异判定为可能致病性(likely pathogenic):PS2+PM2_Supporting+PP3+PS4_Supporting。根据其临床表型,该胎儿被确诊为常染色体显性遗传的Silver-Russell综合征5型(Silver-Russell syndrome 5,SRS5)。Sanger测序确证了其变异的真实性。结论:HMGA2基因的c.223C>T(p.R75W)杂合致病性变异可能是SRS5的遗传学致病原因,扩充了该基因的变异谱,同时为该胎儿的产前遗传咨询和后续的干预措施提供了理论依据。展开更多
Spatial-genetic relation of a polycomponent ore mineralization (Au, Ag, PGE, Cu, Pb, Zn, Ni) with dynamometamorphic complex, formed by the picrite-komatiite-tholeiite series rocks of Kelyana-Irokinda greenstone belt, ...Spatial-genetic relation of a polycomponent ore mineralization (Au, Ag, PGE, Cu, Pb, Zn, Ni) with dynamometamorphic complex, formed by the picrite-komatiite-tholeiite series rocks of Kelyana-Irokinda greenstone belt, is identified. Productivity of various ore mineralization morphostructural types (quartz-vein, zones of veining and sulfide dissemination) differing in mineral composition and content of useful components is considered. It is shown that the main industrial value is represented by veined and disseminated ores with relatively poor useful components content, but at the same time forming large-capacity ore zones. The occurrence extent, localization conditions and ore zones hyperthetical resources are favorable for the production of economically cost-effective open pit (quarry) mining operations. An effective sampling method is recommended to carry out the prospect and exploration of large-capacity deposits on the Yubileyny field and other similar to its Transbaikalia ore objects.展开更多
The gilt silver ewer with decorative patterns unearthed from a Han-and-Jin period tomb at Shangsunjiazhai in Datong,Qinghai Province is a valuable object to researching into early Sino-foreign cultural exchange. Throu...The gilt silver ewer with decorative patterns unearthed from a Han-and-Jin period tomb at Shangsunjiazhai in Datong,Qinghai Province is a valuable object to researching into early Sino-foreign cultural exchange. Through a comparative study of this article and the West Asian,South Russian and Mongolian finds identical with it in decorative pattern and similar in making technology it can be concluded that this ewer must be a product in the Hellenistic Parthian style made no later than the AD 1st century. In the eastward diffusion of this decorative style and making technology,the Eurasian steppe road controlled by the Sarmatians and Xiongnu played the key role. The ewer under discussion may have been made in some place of Central Asia,and its last user must have belonged to the Lushui-Hu differentiated from Xiongnu.展开更多
文摘目的:对1例产前B超提示骨骼系统发育异常,疑似宫内生长受限的胎儿进行基因检测及生物信息学分析以明确其致病原因。方法:采集胎儿羊水及父母外周血,提取基因组DNA,利用高通量测序平台进行家系全外显子组测序(whole exome sequencing,WES)及拷贝数变异测序(copy number variation sequencing,CNV-seq)技术检测,可疑结果经Sanger测序进行验证。结果:胎儿高迁移率族蛋白A2(high mobility group protein AT-Hook-2,HMGA2)基因存在c.223C>T(p.R75W)新发变异,导致氨基酸改变为p.R75W(p.Arg75Trp),为错义突变。根据美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMG)指南评级,该变异判定为可能致病性(likely pathogenic):PS2+PM2_Supporting+PP3+PS4_Supporting。根据其临床表型,该胎儿被确诊为常染色体显性遗传的Silver-Russell综合征5型(Silver-Russell syndrome 5,SRS5)。Sanger测序确证了其变异的真实性。结论:HMGA2基因的c.223C>T(p.R75W)杂合致病性变异可能是SRS5的遗传学致病原因,扩充了该基因的变异谱,同时为该胎儿的产前遗传咨询和后续的干预措施提供了理论依据。
文摘Spatial-genetic relation of a polycomponent ore mineralization (Au, Ag, PGE, Cu, Pb, Zn, Ni) with dynamometamorphic complex, formed by the picrite-komatiite-tholeiite series rocks of Kelyana-Irokinda greenstone belt, is identified. Productivity of various ore mineralization morphostructural types (quartz-vein, zones of veining and sulfide dissemination) differing in mineral composition and content of useful components is considered. It is shown that the main industrial value is represented by veined and disseminated ores with relatively poor useful components content, but at the same time forming large-capacity ore zones. The occurrence extent, localization conditions and ore zones hyperthetical resources are favorable for the production of economically cost-effective open pit (quarry) mining operations. An effective sampling method is recommended to carry out the prospect and exploration of large-capacity deposits on the Yubileyny field and other similar to its Transbaikalia ore objects.
文摘The gilt silver ewer with decorative patterns unearthed from a Han-and-Jin period tomb at Shangsunjiazhai in Datong,Qinghai Province is a valuable object to researching into early Sino-foreign cultural exchange. Through a comparative study of this article and the West Asian,South Russian and Mongolian finds identical with it in decorative pattern and similar in making technology it can be concluded that this ewer must be a product in the Hellenistic Parthian style made no later than the AD 1st century. In the eastward diffusion of this decorative style and making technology,the Eurasian steppe road controlled by the Sarmatians and Xiongnu played the key role. The ewer under discussion may have been made in some place of Central Asia,and its last user must have belonged to the Lushui-Hu differentiated from Xiongnu.
