46,XY性发育异常(disorders/differences of sex development,DSD)是一组核型为46,XY,染色体、性腺和表型不匹配的先天性疾病,约占所有DSD患者的50%[1-3]。该类疾病表型谱复杂,可从轻度男性化不全到完全女性表型,如尿道下裂、小阴茎、...46,XY性发育异常(disorders/differences of sex development,DSD)是一组核型为46,XY,染色体、性腺和表型不匹配的先天性疾病,约占所有DSD患者的50%[1-3]。该类疾病表型谱复杂,可从轻度男性化不全到完全女性表型,如尿道下裂、小阴茎、隐睾、女性化外生殖器、第二性征不发育等。DSD病因复杂,既包括外源性因素,如母体因素、化学制剂及环境干扰物等;又有内源性因素.展开更多
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
Total RNA in tulips was extracted by Trizol method.Primers were designed according to the sequences of Tobacco rattle virus and 18S rRNA gene of plant.The corresponding sections were amplified by RT-PCR and the PCR pr...Total RNA in tulips was extracted by Trizol method.Primers were designed according to the sequences of Tobacco rattle virus and 18S rRNA gene of plant.The corresponding sections were amplified by RT-PCR and the PCR products were labeled by Cy3-dCTP.The probes of plant virus,18S rRNA gene and comparisons were designed and immobilized on chips.Labeled PCR products were hybridized with the probes and the signals were scanned by scanner and analyzed by GenePix Pro 4.0 software.Tobacco rattle virus was detected from tulips which were imported from Holand.The accuracy and sensitivity of the plant virus gene chip were proved.展开更多
本研究设计了10种植物病毒和各种对照的探针，将探针固定在醛基化玻璃片基上制备基因芯片。用常规的Trizol法提取植物总RNA，根据病毒的外壳蛋白基因或复制酶基因设计特异性引物，经RT—PCR扩增相应区段并用Cy3-dCTP进行标记。将标记的...本研究设计了10种植物病毒和各种对照的探针，将探针固定在醛基化玻璃片基上制备基因芯片。用常规的Trizol法提取植物总RNA，根据病毒的外壳蛋白基因或复制酶基因设计特异性引物，经RT—PCR扩增相应区段并用Cy3-dCTP进行标记。将标记的PCR产物与芯片杂交，扫描仪对杂交结果扫描，GenePix Pro 4．0软件对杂交图像进行分析。结果表明，该芯片可以从病毒感染样本中检测到特异性识别信号，检测灵敏度比RT—PCR高10-100倍，所以，基因芯片能对植物病毒作出快速、准确的检测。展开更多
文摘46,XY性发育异常(disorders/differences of sex development,DSD)是一组核型为46,XY,染色体、性腺和表型不匹配的先天性疾病,约占所有DSD患者的50%[1-3]。该类疾病表型谱复杂,可从轻度男性化不全到完全女性表型,如尿道下裂、小阴茎、隐睾、女性化外生殖器、第二性征不发育等。DSD病因复杂,既包括外源性因素,如母体因素、化学制剂及环境干扰物等;又有内源性因素.
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Total RNA in tulips was extracted by Trizol method.Primers were designed according to the sequences of Tobacco rattle virus and 18S rRNA gene of plant.The corresponding sections were amplified by RT-PCR and the PCR products were labeled by Cy3-dCTP.The probes of plant virus,18S rRNA gene and comparisons were designed and immobilized on chips.Labeled PCR products were hybridized with the probes and the signals were scanned by scanner and analyzed by GenePix Pro 4.0 software.Tobacco rattle virus was detected from tulips which were imported from Holand.The accuracy and sensitivity of the plant virus gene chip were proved.
文摘本研究设计了10种植物病毒和各种对照的探针，将探针固定在醛基化玻璃片基上制备基因芯片。用常规的Trizol法提取植物总RNA，根据病毒的外壳蛋白基因或复制酶基因设计特异性引物，经RT—PCR扩增相应区段并用Cy3-dCTP进行标记。将标记的PCR产物与芯片杂交，扫描仪对杂交结果扫描，GenePix Pro 4．0软件对杂交图像进行分析。结果表明，该芯片可以从病毒感染样本中检测到特异性识别信号，检测灵敏度比RT—PCR高10-100倍，所以，基因芯片能对植物病毒作出快速、准确的检测。
