目的用SNP芯片技术对1例产前发现的疑难额外小标记染色体（ small supernumerary marker chromosome, sSMC）进行鉴定，明确其遗传物质的来源并推测其发生机制。方法对1例染色体核型分析提示携带来源不明sSMC的胎儿进行SNP芯片全基因组...目的用SNP芯片技术对1例产前发现的疑难额外小标记染色体（ small supernumerary marker chromosome, sSMC）进行鉴定，明确其遗传物质的来源并推测其发生机制。方法对1例染色体核型分析提示携带来源不明sSMC的胎儿进行SNP芯片全基因组扫描检测，结果用荧光原位杂交技术（fluorescence in situ hybridization, FISH）验证。结果胎儿染色体核型示46，X，＋mar，芯片结果确定sSMC为Yp11．2-11．3重复、Yq11．2区域缺失，FISH结果证明sSMC来源于Y染色体。结论明确胎儿核型为46，X，idic（Y）（pter→p11．2：：11．2→pter）。Yq11．2区的缺失与男性无精症相关。芯片技术可一次性排除23对染色体大于1Mb的微缺失和重复，明确遗传学机制，适用于疑难病例的鉴别和微缺失重复综合征的产前诊断。展开更多
Metal halide perovskite(MHP)has become one of the most promising materials for photocatalytic CO_(2)reduction owing to the wide light absorption range,negative conduction band position and high reduction ability.Howev...Metal halide perovskite(MHP)has become one of the most promising materials for photocatalytic CO_(2)reduction owing to the wide light absorption range,negative conduction band position and high reduction ability.However,photoreduction of CO_(2)by MHP remains a challenge because of the slow charge separation and transfer.Herein,a cobalt single-atom modified nitrogen-doped graphene(Co-NG)cocatalyst is prepared for enhanced photocatalytic CO_(2)reduction of bismuth-based MHP Cs_(3)Bi_(2)Br_(9).The optimal Cs_(3)Bi_(2)Br_(9)/Co-NG composite exhibits the CO production rate of 123.16μmol g-1 h-1,which is 17.3 times higher than that of Cs_(3)Bi_(2)Br_(9).Moreover,the Cs_(3)Bi_(2)Br_(9)/Co-NG composite photocatalyst exhibits nearly 100%CO selectivity as well as impressive long-term stability.Charge carrier dynamic characterizations such as Kelvin probe force microscopy(KPFM),single-particle PL microscope and transient absorption(TA)spectroscopy demonstrate the vital role of Co-NG cocatalyst in accelerating the transfer and separation of photogenerated charges and improving photocatalytic performance.The reaction mechanism has been demonstrated by in situ diffuse reflectance infrared Fourier-transform spectroscopy measurement.In addition,in situ X-ray photoelectron spectroscopy test and theoretical calculation reveal the reaction reactive sites and reaction energy barriers,demonstrating that the introduction of Co-NG promotes the formation of~(*)COOH intermediate,providing sufficient evidence for the highly selective generation of CO.This work provides an effective single-atom-based cocatalyst modification strategy for photocatalytic CO_(2)reduction and is expected to shed light on other photocatalytic applications.展开更多
文摘目的用SNP芯片技术对1例产前发现的疑难额外小标记染色体（ small supernumerary marker chromosome, sSMC）进行鉴定，明确其遗传物质的来源并推测其发生机制。方法对1例染色体核型分析提示携带来源不明sSMC的胎儿进行SNP芯片全基因组扫描检测，结果用荧光原位杂交技术（fluorescence in situ hybridization, FISH）验证。结果胎儿染色体核型示46，X，＋mar，芯片结果确定sSMC为Yp11．2-11．3重复、Yq11．2区域缺失，FISH结果证明sSMC来源于Y染色体。结论明确胎儿核型为46，X，idic（Y）（pter→p11．2：：11．2→pter）。Yq11．2区的缺失与男性无精症相关。芯片技术可一次性排除23对染色体大于1Mb的微缺失和重复，明确遗传学机制，适用于疑难病例的鉴别和微缺失重复综合征的产前诊断。
文摘Metal halide perovskite(MHP)has become one of the most promising materials for photocatalytic CO_(2)reduction owing to the wide light absorption range,negative conduction band position and high reduction ability.However,photoreduction of CO_(2)by MHP remains a challenge because of the slow charge separation and transfer.Herein,a cobalt single-atom modified nitrogen-doped graphene(Co-NG)cocatalyst is prepared for enhanced photocatalytic CO_(2)reduction of bismuth-based MHP Cs_(3)Bi_(2)Br_(9).The optimal Cs_(3)Bi_(2)Br_(9)/Co-NG composite exhibits the CO production rate of 123.16μmol g-1 h-1,which is 17.3 times higher than that of Cs_(3)Bi_(2)Br_(9).Moreover,the Cs_(3)Bi_(2)Br_(9)/Co-NG composite photocatalyst exhibits nearly 100%CO selectivity as well as impressive long-term stability.Charge carrier dynamic characterizations such as Kelvin probe force microscopy(KPFM),single-particle PL microscope and transient absorption(TA)spectroscopy demonstrate the vital role of Co-NG cocatalyst in accelerating the transfer and separation of photogenerated charges and improving photocatalytic performance.The reaction mechanism has been demonstrated by in situ diffuse reflectance infrared Fourier-transform spectroscopy measurement.In addition,in situ X-ray photoelectron spectroscopy test and theoretical calculation reveal the reaction reactive sites and reaction energy barriers,demonstrating that the introduction of Co-NG promotes the formation of~(*)COOH intermediate,providing sufficient evidence for the highly selective generation of CO.This work provides an effective single-atom-based cocatalyst modification strategy for photocatalytic CO_(2)reduction and is expected to shed light on other photocatalytic applications.
