目的评价Microreader^(TM)23HS Plex ID System试剂盒中包含的23个常染色体STR基因座在中国北方汉族人群中等位基因频率分布,获得群体遗传数据,探究其在法医学中的应用价值。方法使用Microreader^(TM)23HS Plex ID System试剂盒对中国...目的评价Microreader^(TM)23HS Plex ID System试剂盒中包含的23个常染色体STR基因座在中国北方汉族人群中等位基因频率分布,获得群体遗传数据,探究其在法医学中的应用价值。方法使用Microreader^(TM)23HS Plex ID System试剂盒对中国北方汉族人群548例无关样本DNA进行检测,收集分型数据,计算各基因座的等位基因频率、样本的杂合度(heterozygosity,H)、这些常染色体STR基因座的多态信息含量(polymorphism information content,PIC)、个体识别力(power of discrimination,DP)和非父排除率(probability of paternity exclusion,PE)并使用统计软件对各基因座是否符合Hardy-Weinberg平衡进行检验;同时对Microreader^(TM)23HS Plex ID System的累积个体识别能力(CDP)和累积非父排除率(CPE)进行计算。结果在548例无关样本中23个STR基因座共计检出260个等位基因,等位基因频率为0.0009~0.5902,H为0.611~0.885,PIC为0.577~0.864,DP为0.815~0.973(平均DP为0.922),PE为0.089~0.406,CDP=1-3.663×10^(-27),CPE=1-2.668×10^(-16),所有基因座等位基因的分布符合Hardy-Weinberg平衡。结论Microreader^(TM)23HS Plex ID System的23个基因座在中国北方汉族人群中具有良好的多态性,在法医学个人识别、群体遗传学研究、亲子鉴定,特别是复杂亲缘关系鉴定中应用价值较高。展开更多
在法庭科学领域推进相关有证标准物质的研制和应用,对建设DNA分析的标准化体系具有重要意义。当前不断涌现新的DNA检验方法,并迅速应用于刑事案件调查,现行方法的有效性和准确性需要标准物质开展认证与验证。DNA STR(short tandem repe...在法庭科学领域推进相关有证标准物质的研制和应用,对建设DNA分析的标准化体系具有重要意义。当前不断涌现新的DNA检验方法,并迅速应用于刑事案件调查,现行方法的有效性和准确性需要标准物质开展认证与验证。DNA STR(short tandem repeat)分型检验是当前法庭科学进行个体身份识别和亲缘关系判断的主要依据,有证DNA标准物质是实现不同实验室间信息资源共享,保障STR分型结果准确可比的标尺。概述了STR检验技术及其过程中使用的国内外标准品和标准物质,并对我国构建STR检验的标准物质体系提出了建议和展望。展开更多
目的:调查19个STR基因座在贵州[亻革]家人人群中的遗传多态性分布,为其民族识别提供生物学依据。方法:应用ABI9700型扩增仪和基点认知公司Goldeneye 20A荧光复合扩增系统对106个[亻革]家人无关个体19个STR基因座进行复合扩增,ABI3100型...目的:调查19个STR基因座在贵州[亻革]家人人群中的遗传多态性分布,为其民族识别提供生物学依据。方法:应用ABI9700型扩增仪和基点认知公司Goldeneye 20A荧光复合扩增系统对106个[亻革]家人无关个体19个STR基因座进行复合扩增,ABI3100型遗传分析仪进行毛细管电泳,GeneMapper ID3.2软件进行基因分型,Modified-Powerstates软件对有关群体遗传学数据进行统计分析。结果:19个STR基因座共检出173个等位基因和497种基因型,其分布符合Hardy-Weinberg平衡定律(P>0.05);杂合度(Heterozygotes,H)为0.585~0.906,亲权指数(typical paternity index,PI)为1.20~5.30,个体识别率(Power of Discrimination,DP)为0.747~0.964,非父排除率(power of exclusion,PE)为0.273~0.769,多态信息含量(polymorphism information content,PIC)为0.50~0.90。结论:19个STR基因座除CSF1PO、TPOX、TH01、D13S317、D7S820、D16S539外,其余具有高度多态性,并在法医学个体识别和亲权鉴定中具有较高的应用价值。展开更多
Cancer testis antigens（CTAs） are attractive targets for tumor immunotherapy because of their tumor-specific expression.Since more than half of confirmed CTAs are located on the X-chromosome,we asked whether there is...Cancer testis antigens（CTAs） are attractive targets for tumor immunotherapy because of their tumor-specific expression.Since more than half of confirmed CTAs are located on the X-chromosome,we asked whether there is a link between CTA expression and X-chromosomes.Recent reports have shown that reactivation of the inactive X-chromosome,known as X-chromosome reactivation（XCR）,a unique phenomenon that exists in many high-risk tumors in women,can transform the expression of many X-linked genes from monoallelic to biallelic.In this review,we discuss the link between CTA and XCR with the hopes of providing some novel insights into tumor biology.展开更多
在法医DNA分析领域,混合短串联重复序列(short tandem repeats,STR)图谱的分析一直是研究难点。当前,国内主要依靠法医进行人工分析,不仅效率低下,分析结果还存在着主观性偏好,难以满足日益增长的STR图谱分析的需求。本文提出一种新的混...在法医DNA分析领域,混合短串联重复序列(short tandem repeats,STR)图谱的分析一直是研究难点。当前,国内主要依靠法医进行人工分析,不仅效率低下,分析结果还存在着主观性偏好,难以满足日益增长的STR图谱分析的需求。本文提出一种新的混合STR图谱分析方法——全局最小残差法,不仅可以计算出分析结果,还可以预测出每个组分的混合比例。该方法首先给混合比例赋予了新的定义,然后对等位基因模型进行优化,进而综合考虑STR图谱中的所有基因座,将每个基因座的残差值进行累加求和,选择累加和最小的混合比例作为推断结果,并使用灰狼优化算法快速寻找混合比例的最优值。对于二组分STR图谱,全局最小残差法能够兼顾分析的准确性和分析速度,有利于实现大量的图谱分析。本文提出的算法在实际应用中取得了不错的效果,具有较高的应用价值,可为混合STR图谱分析领域的研究提供新的解决方案。展开更多
Stroke is the second leading cause of death and a major cause of disability worldwide,and biological sex is an important determining factor in stroke incidence and pathology.From childhood through adulthood,men have a...Stroke is the second leading cause of death and a major cause of disability worldwide,and biological sex is an important determining factor in stroke incidence and pathology.From childhood through adulthood,men have a higher incidence of stroke compared with women.Abundant research has confirmed the beneficial effects of estrogen in experimental ischemic stroke but genetic factors such as the X-chromosome complement can also play an important role in determining sex differences in stroke.Autophagy is a self-degrading cellular process orchestrated by multiple core proteins,which leads to the engulfment of cytoplasmic material and degradation of cargo after autophagy vesicles fuse with lysosomes or endosomes.The levels and the activity of components of these signaling pathways and of autophagy-related proteins can be altered during ischemic insults.Ischemic stroke activates autophagy,however,whether inhibiting autophagy after stroke is beneficial in the brain is still under a debate.Autophagy is a potential mechanism that may contribute to differences in stroke progression between the sexes.Furthermore,the effects of manipulating autophagy may also differ between the sexes.Mechanisms that regulate autophagy in a sex-dependent manner in ischemic stroke remain unexplored.In this review,we summarize clinical and pre-clinical evidence for sex differences in stroke.We briefly introduce the autophagy process and summarize the effects of gonadal hormones in autophagy in the brain and discuss X-linked genes that could potentially regulate brain autophagy.Finally,we review pre-clinical studies that address the mechanisms that could mediate sex differences in brain autophagy after stroke.展开更多
为了评估法医学DNA数据库建设中涉及的59个Y-STR基因座的遗传多态性和法医学应用效能,通过AGCU Y SUPP PLUS试剂盒和AGCU Y37试剂盒检测374个广东汉族无关男性个体,将检测出的59个Y-STR基因座按照突变率的高低进行分类组合和统计分析。...为了评估法医学DNA数据库建设中涉及的59个Y-STR基因座的遗传多态性和法医学应用效能,通过AGCU Y SUPP PLUS试剂盒和AGCU Y37试剂盒检测374个广东汉族无关男性个体,将检测出的59个Y-STR基因座按照突变率的高低进行分类组合和统计分析。结果显示,59个Y-STR基因座联合运用在374个无关男性个体中检出了374个单倍型,其中44个中低突变Y-STR组合、15个高快突变Y-STR组合分别检出373和372个单倍型。59个Y-STR的基因多态性数值分布在0.0551(DYS645)~0.9580(DYF387S1 a/b)之间。结果表明,这59个Y-STR在广东汉族群体中均具有良好的多态性,按中低突变Y-STR组合和高快突变Y-STR组合研发新的检测体系可更好地满足法医实践的不同需求。展开更多
Understanding the genetic architecture of indi-vidual taxa of medical importance is the first step for designing disease preventive strategies. To understand the genetic details and evolu-tionary perspective of the mo...Understanding the genetic architecture of indi-vidual taxa of medical importance is the first step for designing disease preventive strategies. To understand the genetic details and evolu-tionary perspective of the model malaria vector, Anopheles gambiae and to use the information in other species of local importance, we scanned the published X-chromosome se-quence for detail characterization and obtain evolutionary status of different genes. The te-locentric X-chromosome contains 106 genes of known functions and 982 novel genes. Majori-ties of both the known and novel genes are with introns. The known genes are strictly biased towards less number of introns;about half of the total known genes have only one or two in-trons. The extreme sized (either long or short) genes were found to be most prevalent (58% short and 23% large). Statistically significant positive correlations between gene length and intron length as well as with intron number and intron length were obtained signifying the role of introns in contributing to the overall size of the known genes of X-chromosome in An. gam-biae. We compared each individual gene of An. gambiae with 33 other taxa having whole ge-nome sequence information. In general, the mosquito Aedes aegypti was found to be ge-netically closest and the yeast Saccharomyces cerevisiae as most distant taxa to An. gambiae. Further, only about a quarter of the known genes of X-chromosome were unique to An. gambiae and majorities have orthologs in dif-ferent taxa. A phylogenetic tree was constructed based on a single gene found to be highly orthologous across all the 34 taxa. Evolutionary relationships among 13 different taxa were in-ferred which corroborate the previous and pre-sent findings on genetic relationships across various taxa.展开更多
文摘目的评价Microreader^(TM)23HS Plex ID System试剂盒中包含的23个常染色体STR基因座在中国北方汉族人群中等位基因频率分布,获得群体遗传数据,探究其在法医学中的应用价值。方法使用Microreader^(TM)23HS Plex ID System试剂盒对中国北方汉族人群548例无关样本DNA进行检测,收集分型数据,计算各基因座的等位基因频率、样本的杂合度(heterozygosity,H)、这些常染色体STR基因座的多态信息含量(polymorphism information content,PIC)、个体识别力(power of discrimination,DP)和非父排除率(probability of paternity exclusion,PE)并使用统计软件对各基因座是否符合Hardy-Weinberg平衡进行检验;同时对Microreader^(TM)23HS Plex ID System的累积个体识别能力(CDP)和累积非父排除率(CPE)进行计算。结果在548例无关样本中23个STR基因座共计检出260个等位基因,等位基因频率为0.0009~0.5902,H为0.611~0.885,PIC为0.577~0.864,DP为0.815~0.973(平均DP为0.922),PE为0.089~0.406,CDP=1-3.663×10^(-27),CPE=1-2.668×10^(-16),所有基因座等位基因的分布符合Hardy-Weinberg平衡。结论Microreader^(TM)23HS Plex ID System的23个基因座在中国北方汉族人群中具有良好的多态性,在法医学个人识别、群体遗传学研究、亲子鉴定,特别是复杂亲缘关系鉴定中应用价值较高。
文摘在法庭科学领域推进相关有证标准物质的研制和应用,对建设DNA分析的标准化体系具有重要意义。当前不断涌现新的DNA检验方法,并迅速应用于刑事案件调查,现行方法的有效性和准确性需要标准物质开展认证与验证。DNA STR(short tandem repeat)分型检验是当前法庭科学进行个体身份识别和亲缘关系判断的主要依据,有证DNA标准物质是实现不同实验室间信息资源共享,保障STR分型结果准确可比的标尺。概述了STR检验技术及其过程中使用的国内外标准品和标准物质,并对我国构建STR检验的标准物质体系提出了建议和展望。
文摘目的:调查19个STR基因座在贵州[亻革]家人人群中的遗传多态性分布,为其民族识别提供生物学依据。方法:应用ABI9700型扩增仪和基点认知公司Goldeneye 20A荧光复合扩增系统对106个[亻革]家人无关个体19个STR基因座进行复合扩增,ABI3100型遗传分析仪进行毛细管电泳,GeneMapper ID3.2软件进行基因分型,Modified-Powerstates软件对有关群体遗传学数据进行统计分析。结果:19个STR基因座共检出173个等位基因和497种基因型,其分布符合Hardy-Weinberg平衡定律(P>0.05);杂合度(Heterozygotes,H)为0.585~0.906,亲权指数(typical paternity index,PI)为1.20~5.30,个体识别率(Power of Discrimination,DP)为0.747~0.964,非父排除率(power of exclusion,PE)为0.273~0.769,多态信息含量(polymorphism information content,PIC)为0.50~0.90。结论:19个STR基因座除CSF1PO、TPOX、TH01、D13S317、D7S820、D16S539外,其余具有高度多态性,并在法医学个体识别和亲权鉴定中具有较高的应用价值。
基金supported by grants from National Natural Science Foundation of China(No.81460382,No.81560408,No.81360371,and No.81360374)Natural Science Foundation of Guangxi(No.2016GXNSFAA380257,No.2016GXNSFBA380159,and No.2017GXNSFAA198001)+1 种基金Guangxi Key Laboratory of Biological Targeting Diagnosis and Treatment(No.GXSWBX201505)Key Laboratory of Early Prevention and Treatment for Regional High Frequency Tumor(Guangxi Medical University)and Ministry of Education(No.GJZ201603 and No.K2015-TKF03)
文摘Cancer testis antigens（CTAs） are attractive targets for tumor immunotherapy because of their tumor-specific expression.Since more than half of confirmed CTAs are located on the X-chromosome,we asked whether there is a link between CTA expression and X-chromosomes.Recent reports have shown that reactivation of the inactive X-chromosome,known as X-chromosome reactivation（XCR）,a unique phenomenon that exists in many high-risk tumors in women,can transform the expression of many X-linked genes from monoallelic to biallelic.In this review,we discuss the link between CTA and XCR with the hopes of providing some novel insights into tumor biology.
文摘在法医DNA分析领域,混合短串联重复序列(short tandem repeats,STR)图谱的分析一直是研究难点。当前,国内主要依靠法医进行人工分析,不仅效率低下,分析结果还存在着主观性偏好,难以满足日益增长的STR图谱分析的需求。本文提出一种新的混合STR图谱分析方法——全局最小残差法,不仅可以计算出分析结果,还可以预测出每个组分的混合比例。该方法首先给混合比例赋予了新的定义,然后对等位基因模型进行优化,进而综合考虑STR图谱中的所有基因座,将每个基因座的残差值进行累加求和,选择累加和最小的混合比例作为推断结果,并使用灰狼优化算法快速寻找混合比例的最优值。对于二组分STR图谱,全局最小残差法能够兼顾分析的准确性和分析速度,有利于实现大量的图谱分析。本文提出的算法在实际应用中取得了不错的效果,具有较高的应用价值,可为混合STR图谱分析领域的研究提供新的解决方案。
基金supported by the American Heart Association (856061) to JFMMby the NINDS (R01 5R01NS108779 and 5R01NS094543) to LDM
文摘Stroke is the second leading cause of death and a major cause of disability worldwide,and biological sex is an important determining factor in stroke incidence and pathology.From childhood through adulthood,men have a higher incidence of stroke compared with women.Abundant research has confirmed the beneficial effects of estrogen in experimental ischemic stroke but genetic factors such as the X-chromosome complement can also play an important role in determining sex differences in stroke.Autophagy is a self-degrading cellular process orchestrated by multiple core proteins,which leads to the engulfment of cytoplasmic material and degradation of cargo after autophagy vesicles fuse with lysosomes or endosomes.The levels and the activity of components of these signaling pathways and of autophagy-related proteins can be altered during ischemic insults.Ischemic stroke activates autophagy,however,whether inhibiting autophagy after stroke is beneficial in the brain is still under a debate.Autophagy is a potential mechanism that may contribute to differences in stroke progression between the sexes.Furthermore,the effects of manipulating autophagy may also differ between the sexes.Mechanisms that regulate autophagy in a sex-dependent manner in ischemic stroke remain unexplored.In this review,we summarize clinical and pre-clinical evidence for sex differences in stroke.We briefly introduce the autophagy process and summarize the effects of gonadal hormones in autophagy in the brain and discuss X-linked genes that could potentially regulate brain autophagy.Finally,we review pre-clinical studies that address the mechanisms that could mediate sex differences in brain autophagy after stroke.
文摘Understanding the genetic architecture of indi-vidual taxa of medical importance is the first step for designing disease preventive strategies. To understand the genetic details and evolu-tionary perspective of the model malaria vector, Anopheles gambiae and to use the information in other species of local importance, we scanned the published X-chromosome se-quence for detail characterization and obtain evolutionary status of different genes. The te-locentric X-chromosome contains 106 genes of known functions and 982 novel genes. Majori-ties of both the known and novel genes are with introns. The known genes are strictly biased towards less number of introns;about half of the total known genes have only one or two in-trons. The extreme sized (either long or short) genes were found to be most prevalent (58% short and 23% large). Statistically significant positive correlations between gene length and intron length as well as with intron number and intron length were obtained signifying the role of introns in contributing to the overall size of the known genes of X-chromosome in An. gam-biae. We compared each individual gene of An. gambiae with 33 other taxa having whole ge-nome sequence information. In general, the mosquito Aedes aegypti was found to be ge-netically closest and the yeast Saccharomyces cerevisiae as most distant taxa to An. gambiae. Further, only about a quarter of the known genes of X-chromosome were unique to An. gambiae and majorities have orthologs in dif-ferent taxa. A phylogenetic tree was constructed based on a single gene found to be highly orthologous across all the 34 taxa. Evolutionary relationships among 13 different taxa were in-ferred which corroborate the previous and pre-sent findings on genetic relationships across various taxa.
