短串联重复序列(short tandem repeat,STR)已广泛用于法医学亲子鉴定和个体识别中,但STR的突变可能会影响其结果的解释。在大多数类似研究中,由于忽略“隐性”突变现象,STR的突变率被低估。鉴于此,为获得更加准确的STR实际突变率,本研...短串联重复序列(short tandem repeat,STR)已广泛用于法医学亲子鉴定和个体识别中,但STR的突变可能会影响其结果的解释。在大多数类似研究中,由于忽略“隐性”突变现象,STR的突变率被低估。鉴于此,为获得更加准确的STR实际突变率,本研究使用Slooten与Ricciardi提出的有限突变模型和大规模数据,对28,313例(78,739个体)中国北京汉族已确认亲生关系的亲子鉴定案的20个常染色体STR基因座(D3S1358、D1S1656、D13S317、Penta E、D16S539、D18S51、D2S1338、CSF1PO、Penta D、TH01、vWA、D21S11、D6S1043、D7S820、D5S818、TPOX、D8S1179、D12S391、D19S433和FGA;由于有限突变模型中未包含D6S1043的矫正参数,因此本文实际计算其余19个STR基因座的突变率)进行了调查。结果发现,所有基因座均存在突变现象,总计发生1665个突变事件,包括1614个一步突变,34个两步突变,8个三步突变和9个非整步突变。基因座特异性的平均实际突变率在三联体中为0.00007700(TPOX)~0.00459050(FGA),在二联体中为0.00000000(TPOX)~0.00344850(FGA)。此外,本研究还分析了表面和实际突变率、三联体和二联体突变率、父源和母源的突变率之间的关系。研究表明,实际突变率多大于表面突变率,而且μ1^(*)/μ2^(*)(表面突变率)的比值通常也大于μ1/μ2(实际突变率)(μ1^(*),μ1;μ2^(*),μ2分别是一步和两步的突变率),即更多的“隐性”突变被释放出来。而且父源和母源的三联体和二联体的突变率也有存在差异。随后,将这些突变率数据与已发表的中国其他汉族人口的相关研究进行比较,展现出了STR突变率的时间与区域差异。由于样本量大,本研究中还报告了一些少见的突变事件,例如同卵双胞胎突变和“假四步突变”等。综上所述,本研究通过大量数据获得了接近真实的STR突变率的估计值,不仅可为中国法医DNA数据库和群体遗传学数据库提供重要的基础数据,也对开展法医学个体识别、亲权鉴定和遗传学研究具有重要的意义。展开更多
Herein,a new mechanism involving Lewis acid-oxygen vacancy interfacial synergistic catalysis fo r aniline N,N-diethylation with ethanol was proposed,and the SO4^2-/Ce0.84Zr0.16O2-WO3-ZrO2 catalyst(SCWZ)with both Lewis...Herein,a new mechanism involving Lewis acid-oxygen vacancy interfacial synergistic catalysis fo r aniline N,N-diethylation with ethanol was proposed,and the SO4^2-/Ce0.84Zr0.16O2-WO3-ZrO2 catalyst(SCWZ)with both Lewis acid sites and oxygen vacancies was synthesized by the hydrothermal method,which shows better catalytic activity than the reported solid acidic catalysts.Besides,the SO4^2-/ZrO2(SZ)and SO4^2-/WO3-ZrO2(SWZ)catalysts were also prepared and compared with SCWZ to investigate the synergistic effect of each component.The SO4^2-and WO3 mainly generate Lewis acid by bonding with ZrO2,which is beneficial for the fracture of the N-H bond in aniline.The Ce0.84Zr0.16O2 solid solution mainly plays a vital role in generating the oxygen vacancies as the interface active species,which can participate in stripping-OH from ethanol,then the carbocation will also be released,which only needs1.3805 kcal/mol energy,calculated by density functional theory(DFT),to be input.In comparison,the traditional reaction mechanism needs the Br■nsted acidic sites to promote the protonation of ethanol,then dehydration and subsequent formation of carbocation followed,and 108.6846 kcal/mol energy needs to be input,which is far higher than that of the new mechanism.The apparent activation energy(Ea)over SCWZ was measured by experiment to be 34.09 kJ/mol,which is much lower than that of SWZ(47.10 kJ/mol)and SZ(54.37 kJ/mol),illustrating comparatively preferable kinetics for SCWZ than that of SWZ and SZ.Besides,the conversion of aniline and selectivity to N,N-diethylaniline over SCWZ reach almost 100%and 73%,respectively,The SCWZ can be renewed for 4 times without rapid deactivation,and the longevity of SCWZ is longer than that of SWZ and SZ,as the loaded SO4^2-and tetragonal ZrO2 are stabilized by Ce0.84Zr0.16O2 and WO3,respectively.展开更多
Objective:In a paternity case,the D12S391 locus was reported as a mismatch.To confirm the existence of mutations and mutations come from father or mother.Methods:STR and next-generation sequencing technology were used...Objective:In a paternity case,the D12S391 locus was reported as a mismatch.To confirm the existence of mutations and mutations come from father or mother.Methods:STR and next-generation sequencing technology were used to validate the sequence.Results:NGS showed the loss of one adenine between the 19.3 allele of the child and allele 20 of the mother.Conclusion:The NGS can be applied in the paternity to validate the mutation.展开更多
文摘短串联重复序列(short tandem repeat,STR)已广泛用于法医学亲子鉴定和个体识别中,但STR的突变可能会影响其结果的解释。在大多数类似研究中,由于忽略“隐性”突变现象,STR的突变率被低估。鉴于此,为获得更加准确的STR实际突变率,本研究使用Slooten与Ricciardi提出的有限突变模型和大规模数据,对28,313例(78,739个体)中国北京汉族已确认亲生关系的亲子鉴定案的20个常染色体STR基因座(D3S1358、D1S1656、D13S317、Penta E、D16S539、D18S51、D2S1338、CSF1PO、Penta D、TH01、vWA、D21S11、D6S1043、D7S820、D5S818、TPOX、D8S1179、D12S391、D19S433和FGA;由于有限突变模型中未包含D6S1043的矫正参数,因此本文实际计算其余19个STR基因座的突变率)进行了调查。结果发现,所有基因座均存在突变现象,总计发生1665个突变事件,包括1614个一步突变,34个两步突变,8个三步突变和9个非整步突变。基因座特异性的平均实际突变率在三联体中为0.00007700(TPOX)~0.00459050(FGA),在二联体中为0.00000000(TPOX)~0.00344850(FGA)。此外,本研究还分析了表面和实际突变率、三联体和二联体突变率、父源和母源的突变率之间的关系。研究表明,实际突变率多大于表面突变率,而且μ1^(*)/μ2^(*)(表面突变率)的比值通常也大于μ1/μ2(实际突变率)(μ1^(*),μ1;μ2^(*),μ2分别是一步和两步的突变率),即更多的“隐性”突变被释放出来。而且父源和母源的三联体和二联体的突变率也有存在差异。随后,将这些突变率数据与已发表的中国其他汉族人口的相关研究进行比较,展现出了STR突变率的时间与区域差异。由于样本量大,本研究中还报告了一些少见的突变事件,例如同卵双胞胎突变和“假四步突变”等。综上所述,本研究通过大量数据获得了接近真实的STR突变率的估计值,不仅可为中国法医DNA数据库和群体遗传学数据库提供重要的基础数据,也对开展法医学个体识别、亲权鉴定和遗传学研究具有重要的意义。
基金Project supported by China Petroleum&Chemical Corporation (J418013-3)。
文摘Herein,a new mechanism involving Lewis acid-oxygen vacancy interfacial synergistic catalysis fo r aniline N,N-diethylation with ethanol was proposed,and the SO4^2-/Ce0.84Zr0.16O2-WO3-ZrO2 catalyst(SCWZ)with both Lewis acid sites and oxygen vacancies was synthesized by the hydrothermal method,which shows better catalytic activity than the reported solid acidic catalysts.Besides,the SO4^2-/ZrO2(SZ)and SO4^2-/WO3-ZrO2(SWZ)catalysts were also prepared and compared with SCWZ to investigate the synergistic effect of each component.The SO4^2-and WO3 mainly generate Lewis acid by bonding with ZrO2,which is beneficial for the fracture of the N-H bond in aniline.The Ce0.84Zr0.16O2 solid solution mainly plays a vital role in generating the oxygen vacancies as the interface active species,which can participate in stripping-OH from ethanol,then the carbocation will also be released,which only needs1.3805 kcal/mol energy,calculated by density functional theory(DFT),to be input.In comparison,the traditional reaction mechanism needs the Br■nsted acidic sites to promote the protonation of ethanol,then dehydration and subsequent formation of carbocation followed,and 108.6846 kcal/mol energy needs to be input,which is far higher than that of the new mechanism.The apparent activation energy(Ea)over SCWZ was measured by experiment to be 34.09 kJ/mol,which is much lower than that of SWZ(47.10 kJ/mol)and SZ(54.37 kJ/mol),illustrating comparatively preferable kinetics for SCWZ than that of SWZ and SZ.Besides,the conversion of aniline and selectivity to N,N-diethylaniline over SCWZ reach almost 100%and 73%,respectively,The SCWZ can be renewed for 4 times without rapid deactivation,and the longevity of SCWZ is longer than that of SWZ and SZ,as the loaded SO4^2-and tetragonal ZrO2 are stabilized by Ce0.84Zr0.16O2 and WO3,respectively.
文摘Objective:In a paternity case,the D12S391 locus was reported as a mismatch.To confirm the existence of mutations and mutations come from father or mother.Methods:STR and next-generation sequencing technology were used to validate the sequence.Results:NGS showed the loss of one adenine between the 19.3 allele of the child and allele 20 of the mother.Conclusion:The NGS can be applied in the paternity to validate the mutation.
