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Genetic Polymorphism of Nine Non-CODIS STR Loci in Hu- nan Province-based Chinese Han Population 被引量:1
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作者 GUO Juan-juan LIU Ying +5 位作者 GUO Ya-dong YAN Jie CHANG Yun-feng CAI Ji-feng LUTing ZHA Lagabaiyila 《法医学杂志》 CAS CSCD 2014年第6期441-445,共5页
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Genetic Polymorphism of 38 Y-chromosome Short Tandem Repeats in Beijing Han Population from China
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作者 Yan Liu Chengtao Jiang +4 位作者 Dong Zhao Jinpei Zhang Libin Wu Di Lu Li Yuan 《Journal of Forensic Science and Medicine》 2023年第4期340-346,共7页
Objective:To investigate 38 Y-chromosome short tandem repeat(Y-STR)genetic polymorphisms in Beijing Han and analyze the genetic distance with neighboring or linguistically similar populations.Materials and Methods:In ... Objective:To investigate 38 Y-chromosome short tandem repeat(Y-STR)genetic polymorphisms in Beijing Han and analyze the genetic distance with neighboring or linguistically similar populations.Materials and Methods:In the study,we selected 531 unrelated male individuals of Beijing Han,and the results were statistically analyzed by testing with GSTAR™41Y reagents.Results:The allele peak heights were balanced among the Y loci,the amplified fragment ranged from 100 to 500 bps.A total of 531 haplotypes were detected in 531 samples.Eight null genotypes were observed on locus DYS448.One and three double alleles were observed on single-copy locus DYS576 and DYS19,respectively.DYS385 a/b,DYF387S1 a/b,and DYS527 a/b were more common in double copies,but 3,13,and 11 triple alleles were detected,respectively.The gene diversity values of Y-STRs except DYS391,DYS438,and DYS645 were>0.5.Twenty-seven Y-STRs of Beijing Han population were selected for genetic distance comparison with 17 populations including Changchun Han,with Rst values ranging from 0.0002 to 0.1703.Conclusion:The 38 Y-STRs in this study have strong male lineage identification ability and have great potential for individual identification,kinship identification,Y-STR database construction,and genetic relationship research. 展开更多
关键词 genetic distance genetic polymorphism Han nationality in Beijing short tandem repeats Y-CHROMOSOME
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Genetic Polymorphisms of 15 STR Loci in Gansu Hui Population 被引量:3
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作者 SUN Hong-bing YANG Xin +2 位作者 HA Fei LUO Ji-huai ZHANG Zi-long 《法医学杂志》 CAS CSCD 2013年第6期464-465,471,共3页
The short tandem repeat (STR) markers are widely used in human identification and paternity testing in the field of forensic genetics[1].Recent researches on polymorphic STRs have led to their applications to populati... The short tandem repeat (STR) markers are widely used in human identification and paternity testing in the field of forensic genetics[1].Recent researches on polymorphic STRs have led to their applications to population genetics,forensic DNA database,human individual identification,paternity testing,genetic mapping,disease linkage analysis,archaeology and potential inference of the ethnic origin of an individual[2]. 展开更多
关键词 亲权鉴定 法医 身份识别 群体遗传学
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ANALYSIS ON GENETIC POLYMORPHISM OF 6 STR LOCI ON CHROMOSOME 12 IN CHINESE HAN POPULATION
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作者 左弘 郭雄 +5 位作者 康龙丽 平智广 王世捷 张宝弟 赖江华 耿冬 《Journal of Pharmaceutical Analysis》 SCIE CAS 2005年第2期66-69,73,共5页
Objective To analyze the genetic polymorphism of 6 STR loci (D12S358, D12S1675, D12S1663, D12S1697, D12S1725 and D12S1613) on chromosome 12 in Chinese Han population. Methods EDTA-blood specimens were collected from 1... Objective To analyze the genetic polymorphism of 6 STR loci (D12S358, D12S1675, D12S1663, D12S1697, D12S1725 and D12S1613) on chromosome 12 in Chinese Han population. Methods EDTA-blood specimens were collected from 153 unrelated individuals of Chinese Han population in Shaanxi province. Allele and genotype frequencies for the 6 STR loci were estimated and statistical parameters of polymorphism were calculated. Results 8 alleles and 18 genotypes, 10 alleles and 17 genotypes, 9 alleles and 15 genotypes, 12alleles and 29 genotypes, 12 alleles and 31 genotypes, 8 alleles and 11 genotypes were observed at D12S358, D12S1675, D12S1663, D12S1697, D12S1725 and D12S1613, respectively. No deviations of the observed allele frequency from Hardy-weinberg equilibrium expectations were found for any of these loci. The Heterozygotes of these 6 loci were 78.89%, 66.10%, 54.95%, 79.10%, 71.98% and 59.48%, respectively. It indicated the high genetic polymorphism of the loci in Chinese Han population. Conclusion The 6 STR loci belonged to the genetic marker system of high discriminutesation and high information in Chinese Han population and can be used in the study of gene-related diseases. 展开更多
关键词 short tandem repeat genetic polymorphism Hardy-Weinberg equilibrium chromosome 12
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Genetic Polymorphism and Relationship Analyses of Standard Poodle and Bichon Frise Groups Based on 19 Short Tandem Repeat Loci
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作者 Shuyan Mei Jinlong Yang +5 位作者 Jianping Li Xin Xiong Menglei Wang Zhichao Zhao Yuxin Guo Yajun Deng 《Journal of Forensic Science and Medicine》 2023年第4期331-339,I0013-I0015,共12页
Context:As the increasing number of pet canines,the identification of canine has attracted much attentions in the forensic field,however,the genetic diversities of pet canines still remained unknown.Aims:To explore ge... Context:As the increasing number of pet canines,the identification of canine has attracted much attentions in the forensic field,however,the genetic diversities of pet canines still remained unknown.Aims:To explore genetic polymorphisms of 19 short tandem repeat(STR)loci and genetic relationships between the two studied canine groups and reference group.Subjects and Methods:In the present study,genetic polymorphisms of 19 STR loci and a sex-linked zinc finger locus were analyzed in a total of 594 canines in Standard Poodle and Bichon Frise groups from China.Results:A total of 166,159 alleles were observed in the Standard Poodle,Bichon Frise groups with the corresponding allelic frequencies ranging from 0.0030-0.6108 to 0.0012-0.6148,respectively.The combined discrimination power and probability of exclusion of 19 STR loci in Standard Poodle and Bichon Frise groups were 0.9999999999999497,0.999962884;and 0.99999999999999995,0.999965955,respectively.Furthermore,the genetic distances between the two canine groups and Labrador retriever group were calculated,and the results indicated that Standard Poodle and Bichon Frise groups showed a closer genetic relationship,while the two canine groups had distant genetic relationships with Labrador retriever group.The result of population genetic structure revealed that genetic component distributions in the three canine groups were different.The predicted accuracies of the constructed random forest prediction model for three validation sets(25%individuals randomly selected from three populations with 808 individuals)were higher than 0.9,especially for the individuals in validation set from the Bichon Frise group is 1.Conclusions:The 19 STR loci could be used for individual identification,canine breed identification and paternity testing in the two canine groups. 展开更多
关键词 short tandem repeat Standard Poodle Bichon Frise forensic parameter canine genetic polymorphism
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Mutation Studies of 31 Highly Mutated Y-chromosomal Short Tandem Repeat Systems in the Han Population of Northern China
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作者 Shicheng Hao Jinghan Chen +1 位作者 Hang He Li Yuan 《Journal of Forensic Science and Medicine》 2024年第2期155-162,共8页
A six-color fluorescent multiplex amplification system for 31 Y-chromosomal short tandem repeats(Y-STRs)(DYS19,DYS390,DYS391,DYF399S1,DYF404S1,DYS439,DYS444,DYS449,DYS452,DYS456,DYS458,DYS460,DYS481,DYS508,DYS513,DYS5... A six-color fluorescent multiplex amplification system for 31 Y-chromosomal short tandem repeats(Y-STRs)(DYS19,DYS390,DYS391,DYF399S1,DYF404S1,DYS439,DYS444,DYS449,DYS452,DYS456,DYS458,DYS460,DYS481,DYS508,DYS513,DYS516,DYS518,DYS543,DYS547,DYS549,DYS552,DYS557,DYS570,DYS576,DYS612,DYS622,DYS626,DYS627,DYS630,DYS635,and Y-GATA-A10)was developed for investigating the mutation rates of 31 highly mutated Y-STR genes in the Han population of northern China.The mutation rates of the 31 highly mutated Y-STRs were calculated using the father-son pair study method after typing 526 Northern Han father-son pairs with this system.Statistically,148 Y-STR mutations were found,with mutation rates ranging from 0(95%confidence interval[CI]0 to 9.0×10^(−3),DYS622)to 7.0×10^(−2)(95%CI 5.1×10^(−2)to 9.7×10^(−2),DYF399S1).Out of these,126 father-son pairs were successfully identified,with a distinction rate of 24.0%(95%CI 20.4%-27.9%).The ability of the 31 highly mutated Y-STRs to distinguish closely related males from the same paternal lineage in the Northern Han population is extremely valuable for criminal investigations and other purposes. 展开更多
关键词 forensic genetics mutation rate rapidly mutating Y-chromosomal short tandem repeat
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Genetic and structural characterization of 20 autosomal short tandem repeats in the Chinese Qinghai Han population and its genetic relationships and interpopulation differentiations with other reference populations
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作者 Zhanhai Wang Bin Lu +3 位作者 Xiaoye Jin Jiangwei Yan Haotian Meng Bofeng Zhu 《Forensic Sciences Research》 2018年第2期145-152,共8页
China is a multinational country composed of 56 ethnic groups of which the Han Chinese accounts for 91.60%.Qinghai Province is located in the northeastern part of the Qinghai-Tibet Plateau,has an area of 72.12 km2,and... China is a multinational country composed of 56 ethnic groups of which the Han Chinese accounts for 91.60%.Qinghai Province is located in the northeastern part of the Qinghai-Tibet Plateau,has an area of 72.12 km2,and is the fourth largest province in China.In the present study,we investigated the genetic polymorphisms of 20 short tandem repeat (STR) loci in a Qinghai Han population,as well as its genetic relationships with other populations.A total of 273 alleles were identified in 2 000 individuals at 20 loci,and the allelic frequency ranged from 0.0002 to 0.5327.The 20 STR loci showed a relatively high polymorphic rate in the studied group.Observed and expected heterozygosities ranged 0.613 0-0.907 5 and 0.614 8-0.920 0,respectively.The combined power of discrimination,and the probability of exclusion in duo and trio cases were 0.999 999 999 999 999 999 999 999 34,0.9999960 and 0.9999999965,respectively.Analyses of interpopulation differentiation revealed that the most significant differences were found between the Qinghai Han and Malaysian,while no significant differences were found between the Qinghai Han and Han people from Shaanxi and Jiangsu.The results of principal component analysis,multidimensional scaling analysis and phylogenetic reconstructions also suggested the close relationships between the Qinghai Han and other two Han populations.The present results,therefore,indicated that these 20 STR loci could be used for paternity testing and individual identification in forensic applications,and may also provide information for the studies of genetic relationships between Qinghai Han and other groups. 展开更多
关键词 genetic polymorphisms forensic genetics phylogenetic reconstruction short tandem repeat
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The Validation of Goldeneye^(™)DNA ID 22NC kit and the Genetic Polymorphism of 21 Short Tandem Reeat Loci in the Chinese Hunan Han Population
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作者 Xiaoliang Fu Shule Sun +3 位作者 Yanfang Liu Jing He Jifeng Cai Zha 《Journal of Forensic Science and Medicine》 2018年第3期122-128,I0004-I0015,共19页
Goldeneye™DNA ID 22NC Kit is a novel short tandem repeat(STR)genotyping system that investigate 20 non-CODIS loci(D4S2366,D6S477,D22GATA198B05,D15S659,D8S1132,D3S3045,D14S608,D17S1290,D3S1744,D2S441,D18S535,D13S325,D7... Goldeneye™DNA ID 22NC Kit is a novel short tandem repeat(STR)genotyping system that investigate 20 non-CODIS loci(D4S2366,D6S477,D22GATA198B05,D15S659,D8S1132,D3S3045,D14S608,D17S1290,D3S1744,D2S441,D18S535,D13S325,D7S1517,D1OS1435,D11S236&D19S253,D1S1656,D7S3O4&D10S14&and D5S2500),a CODIS locus(D3S1358),and a sex-determining locus amelogenin in one assay.In the present study,this STR genotyping system was validated according to the guidelines of"Wlidation Guidelines for DNA Analysis Methods(2016)"updated by the Scientific Working Group on DNA Analysis Methods.A series of tests,such as polymerase chain reaction-based studies,sensitivity,inhibitors,DNA mixture,species specificity,precision and accuracy evaluation,stutter percentage,and peak height ratio,was conducted.The genetic polymorphism of 21 STR loci that included in the 22NC system was also investigated in the Chinese Hunan Han population.The validation results demonstrated that Goldeneye™DNA ID 22NC Kit is a robust and reliable identification assay as required for genotyping in kinship analysis and forensic investigation.The 21 STR loci in this kit also showed a high level of genetic polymorphism for the Hunan Han population.Therefore,it can be used for forensic applications and population studies. 展开更多
关键词 22NC genetic polymorphism Hunan Han short tandem repeat
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深圳汉族人群42个常染色体短串联重复序列基因座的遗传多态性
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作者 钟艳平 伍立桃 +5 位作者 李桢 周丹 全湛柔 梁爽 邓志辉 张胤鸣 《中山大学学报(医学科学版)》 CAS CSCD 北大核心 2024年第5期739-744,共6页
【目的】调查深圳汉族人群42个常染色体短串联重复序列(STR)基因座(含41个非CODIS系统STR基因座)等位基因的遗传多态性,研究其在法医鉴定中的应用价值。【方法】采用AGCU21+1和阅微MR23荧光扩增试剂盒对深圳汉族人群435个无关个体STR基... 【目的】调查深圳汉族人群42个常染色体短串联重复序列(STR)基因座(含41个非CODIS系统STR基因座)等位基因的遗传多态性,研究其在法医鉴定中的应用价值。【方法】采用AGCU21+1和阅微MR23荧光扩增试剂盒对深圳汉族人群435个无关个体STR基因座进行序列多态性分析。通过Modified-Powerstates和arlequin v3.5软件统计等位基因频率、法医遗传学参数并进行Hardy-Weinberg平衡检验。【结果】深圳汉族人群435个无关个体共检出418个等位基因,均符合Hardy-Weinberg平衡定律(P>0.05/42),频率分布在0.0011~0.5529之间。D1S1656和D21S1270基因座多态性最高,均检出16个等位基因;D4S2408基因座检出的等位基因最少;个体识别能力(DP)为0.7988(D1S1627)~0.9686(D7S3048),多态性信息含量(PIC)为0.5680(D1S1627)~0.8598(D7S3048),杂合度(H)为0.6276(D1S1627)~0.8782(D20S470)。【结论】42个常染色体STR基因座的等位基因在深圳地区汉族群体遗传多态性较好,具有较高的个体识别能力,在个体识别和亲权鉴定尤其是单亲或出现基因突变的情况下具有较高的应用价值;所得的数据亦为STR群体遗传学提供基础数据。 展开更多
关键词 法医遗传学 遗传多态性 常染色体 短串联重复序列 深圳 汉族
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Genetic Distributions of 22 Short Tandem Repeat Loci in 760 Unrelated Tibet,Uygur,and Mongolia Individuals from China
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作者 Ya‑Ran Yang Jian Yang +4 位作者 Feng Li Yong‑Zai Wang Zai‑Liang Yu Jiang‑Wei Yan Di Lu 《Journal of Forensic Science and Medicine》 2019年第2期65-79,共15页
In recent years,paternity testing in ethnic minority areas in China increases rapidly.However,the number of existing genetic markers does not meet the needs.The objective is to study the information of 22 genetic mark... In recent years,paternity testing in ethnic minority areas in China increases rapidly.However,the number of existing genetic markers does not meet the needs.The objective is to study the information of 22 genetic markers in Mongolian,Tibetan,and Uygur Nationality.The genetic polymorphism of 22 short tandem repeat(STR)loci(D10S1435,D11S2368,D12S391,D13S325,D14S608,D15S659,D16S539,D17S1290,D18S535,D19S253,D1S1656,D20S470,D21S1270,D22GATA198B05,D2S1338,D3S3045,D4S2366,D5S2500,D6S477,D7S3048,D8S1132,and D9S925)was estimated in 259 Uyghur,251 Tibetan,and 250 Inner Mongolian individuals from China who were all unrelated.Allele frequencies and forensic parameters were evaluated.The Hardy-Weinberg equilibrium(HWE)of each locus and the linkage disequilibrium(LD)for all pairwise STR loci were tested.Additionally,the Nei's genetic distance was used to estimate the genetic heterogeneity between Tibetan,Uyghur,Mongolian,Chinese Northern Han and Chinese Li population.The 22 loci showed high genetic polymorphism in the three ethnic groups.An exact test for the genotype distribution of the markers showed no significant deviation from HWE.These 22 STR loci could be treated as independent loci at the population level in these three ethnic groups.Relatively short genetic distances were found between the Mongolian and Han and Uygur populations.The 22 loci had no LD in the three ethnic groups and showed high heterozygosity,providing genetic information and forensic statistics for the Uyghur,Tibetan,and Inner Mongolian groups.These 22 STR loci will be useful for identification and kinship analysis in these three populations in China. 展开更多
关键词 forensic genetics genetic polymorphism inner Mongolian short tandem repeat TIBETAN UYGHUR
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Genetic Diversities of 23 Y‑Chromosome Short Tandem Repeat Loci in a Han Population in the Beijing Region
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作者 Shicheng Hao Xuan Zhang +1 位作者 Yan Liu Di Lu 《Journal of Forensic Science and Medicine》 2018年第2期111-114,共4页
We investigated the polymorphisms of 23 Y‑short tandem repeat(STR)loci in a Han population in the Beijing region.Blood samples were collected from 255 unrelated Han males.DNA templates were amplified using the PowerPl... We investigated the polymorphisms of 23 Y‑short tandem repeat(STR)loci in a Han population in the Beijing region.Blood samples were collected from 255 unrelated Han males.DNA templates were amplified using the PowerPlex®Y23 system,and the amplification products were detected with a 3130 genetic analyzer.A total of 254 haplotypes were detected from the 255 unrelated Han males in the Beijing region.The gene diversity of these 23 Y‑STR loci was 0.3952–0.9721.The haplotype diversity was 0.99996 and discrimination capacity(DC)was more than 99.6%.The 23 Y‑STR loci used in this study are highly polymorphic in Han individuals in the Beijing region and are therefore suitable for paternal kinship identification.Studying allelic deletions such as DYS448 and DYS549 are important for examining Y‑STR polymorphisms and forensic testing. 展开更多
关键词 forensic biology genetic polymorphism Y‑short tandem repeat
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浅析三带型基因座同一认定似然比的计算策略
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作者 海璇隽 黄建春 《中国司法鉴定》 2024年第5期68-71,共4页
目的探讨短串联重复序列(short tandem repeat,STR)三带型基因座同一认定似然比(likelihood ratio,LR)的不同计算策略。方法通过忽略三带型基因座、基于人群中不同类型的观测值、基于三带型基因座形成机制推导公式三个模型,对三带型基... 目的探讨短串联重复序列(short tandem repeat,STR)三带型基因座同一认定似然比(likelihood ratio,LR)的不同计算策略。方法通过忽略三带型基因座、基于人群中不同类型的观测值、基于三带型基因座形成机制推导公式三个模型,对三带型基因座似然比进行计算。结果得到三个模型六种策略的LR计算方法,并分析其保守性与局限性。结论根据三体综合征发生机制推导的三带型基因座LR计算公式,可得到较为准确且可用于司法鉴定的LR值。 展开更多
关键词 法医遗传学 短串联重复序列 三带型 似然比
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Genetic Polymorphisms of 22 Novel Autosomal Short Tandem Repeat Loci in Sierra Leone Population
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作者 Yi Liu Chudong Wang +10 位作者 Dan Wen Weifeng Qu Hao Xing Hongtao Jia Ruyi Xu Xuan Tang Siqi Chen Jienan Li Guanlin Li Lagabaiyila Zha Yong Wang 《Journal of Forensic Science and Medicine》 2024年第3期209-213,I0001-I0008,共13页
Background:Exploring and identifying novel alleles of noncombined DNAIndex System(CODIS)short tandem repeat(STR)loci in different ethnic groups is important for the establishment of forensic reference databases and st... Background:Exploring and identifying novel alleles of noncombined DNAIndex System(CODIS)short tandem repeat(STR)loci in different ethnic groups is important for the establishment of forensic reference databases and study of population genetics.Aim:This study is aimed to explore the genetic polymorphism of 22 non-CODIS autosomal STR loci(D6S477,D18S535,D19S253,D15S659,D11S2368,D20S470,D1S1656,D22-GATA198B05,D8S1132,D4S2366,D21S1270,D13S325,D9S925,D3S3045,D14S608,D10S1435,D12S391,D7S3048,D17S1290,D5S2500,D2S1338,and D16S539)in Sierra Leone population and analyze the population genetic relationships in comparison with otherpopulations.Materialsand ethods:The amples of a total of 495 unrelated individuals(274 females and 221 males)from Sierra Leonewere examined by the Microreader^(TM)23SPID System,and their genetic polymorphisms and associated forensic parameters were calculated.The genetic relationships between Sierra Leonepopulation and other populations were evaluated as well.Results:Atotal of 287 alleles were observed with allelic frequencies ranging from 0.001 to 0.399.The cumulative power of discrimination(CPD)of the 22 autosomal STR loci was 0.99999999999999999999999999999538.The cumulative probability of exclusion(CPE)of the 22 autosomal STR loci was 0.9999998514(CPEdous)and 0.9999999999826(CPEtrios).All of the STR loci reached the Hardy–Weinberg equilibrium after Bonferroni correction.The population genetics analysis results demonstrated that Sierra Leone population exhibited distinctive genetic characteristics compared to those of East Asian populations and it had relatively close genetic distances to the Uygur population.Conclusion:The results of this study could enrich the forensic databases with Sierra Leone population.The 22 STR loci are highly polymorphic and could be used for forensic practice and population genetics studies. 展开更多
关键词 genetic polymorphisms Microreader™23SP ID System short tandem repeat Sierra Leone
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基于不同STR分型试剂盒的肿瘤组织身源鉴定方法
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作者 吴黎明 陈安琪 +1 位作者 张素华 李成涛 《法医学杂志》 CAS CSCD 北大核心 2024年第4期330-339,共10页
目的 建立基于常用STR分型试剂盒的肿瘤组织身源鉴定方法。方法 采用ForenSeq^(TM) DNA Signature Prep试剂盒检测55例配对肿瘤组织样本(肿瘤组织和同一个体正常组织成对)以及75例无关个体全血样本27个常染色体STR基因座的分型情况,并模... 目的 建立基于常用STR分型试剂盒的肿瘤组织身源鉴定方法。方法 采用ForenSeq^(TM) DNA Signature Prep试剂盒检测55例配对肿瘤组织样本(肿瘤组织和同一个体正常组织成对)以及75例无关个体全血样本27个常染色体STR基因座的分型情况,并模拟55例肿瘤组织的全同胞、亲子对分型数据,统计成对肿瘤(paired carcinoma,PC)、肿瘤-无关个体(tumor-unrelated individual,UI)、肿瘤-全同胞(tumor-simulated full sibling,FS)与肿瘤-亲子(tumor-simulated parent-offspring,PO)的共有等位基因个数(number of total identical alleles,A_n)及状态一致性(identity by state,IBS)评分。以上述统计结果作为参照,建立8个常用STR分型试剂盒的肿瘤组织身源鉴定预测模型,并尝试构建一个专用于肿瘤组织身源鉴定的模型。使用另外23例配对肿瘤组织样本的检测结果对鉴定模型的准确性、灵敏度及特异度进行验证与评估。结果 (1)在任一试剂盒中,全不同基因座数量(A_0)在PC组与PO组之间差异无统计学意义。1个相同基因座数量(A_(1))、2个相同基因座数量(A_(2))和IBS评分在PC组与UI、FS、PO组之间差异均有统计学意义。(2)不同STR基因座的A_n与IBS评分在不同组别存在差异,其中,13个STR基因座(CSF1PO、D12S391、D19S433、D20S482、D2S1338、D3S1358、D4S2408、D7S820、D8S1179、FGA、TH01、TPOX、vWA)的A_(2)在PC组均高于其他STR基因座;2个STR基因座(D6S1043、PentaE)的A_(2)在UI组低于其他STR基因座。(3)成功构建了8个常用STR分型试剂盒的肿瘤组织身源鉴定预测模型以及15个STR基因座的肿瘤组织身源鉴定模型(15-STRs),灵敏度均达100%,特异度为97.56%~99.88%,准确度为97.59%~99.89%。其中,15-STRs模型的灵敏度为100%,特异度为99.88%,准确率为99.89%,高于常用商业化试剂盒。结论 本研究成功建立了8个常用STR分型试剂盒的肿瘤组织身源鉴定方法,拓展了肿瘤组织身源鉴定的应用范围。通过比较不同基因座在肿瘤组织身源鉴定中的差异,筛选出了15个特别适用于肿瘤组织身源鉴定的STR基因座,为未来肿瘤组织溯源的试剂盒构建提供了数据基础。 展开更多
关键词 法医遗传学 二代测序 短串联重复序列 预测模型 状态一致性 肿瘤组织 个体识别 共有等位基因个数
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DNATyper mtDNA-SNP60^(TM)试剂盒在案件中的应用研究
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作者 杨乐 陈滢 +4 位作者 吴俞衡 石妍 齐朝阳 孔祥仕 马温华 《刑事技术》 2024年第3期255-261,共7页
本文探讨DNATyper mtDNA-SNP60^(TM)试剂盒在案件中应用的可行性。应用DNATyper mtDNASNP60^(TM)试剂盒对100个汉族无关个体和20组全同胞进行mtDNA SNP检验;取25 pg/μL马、牛、羊、猪、鸡、鸭、猫、狗、兔、鼠和大肠杆菌的DNA样品进行... 本文探讨DNATyper mtDNA-SNP60^(TM)试剂盒在案件中应用的可行性。应用DNATyper mtDNASNP60^(TM)试剂盒对100个汉族无关个体和20组全同胞进行mtDNA SNP检验;取25 pg/μL马、牛、羊、猪、鸡、鸭、猫、狗、兔、鼠和大肠杆菌的DNA样品进行种属特异性测试;取5、10、20、40μmol/L血红素进行抗抑制性测试;取两个批次的DNATyper mtDNA-SNP60^(TM)试剂盒经反复冻融10次后进行稳定性测试;分别应用VeriFiler^(TM)Plus PCR扩增试剂盒和DNATyper mtDNA-SNP60^(TM)试剂盒对100份陈旧、腐败、降解检材进行检验。结果表明,100个汉族无关个体均获得清晰的mtDNA SNP分型结果,其检验结果与通过mtDNA测序获得的结果完全一致;100个汉族无关个体含有100种不同的单倍型;20组全同胞中每组个体之间mtDNA SNP分型结果相同;DNATyper mtDNA-SNP60^(TM)试剂盒对马、牛、羊、猪、鸡、鸭、猫、狗、兔、鼠和大肠杆菌的DNA样品进行检测,均未出现特异性分型;当血红素浓度≤40μmol/L时,所有mtDNA SNP位点均获得正确分型;两个批次的DNATyper mtDNA-SNP60^(TM)试剂盒经反复冻融10次后,所有mtDNA SNP位点均可正确分型;对于100份陈旧、腐败、降解检材,STR检出率为55%,mtDNA SNP的检出率为86%,mtDNA SNP的检出率显著高于STR。当模板DNA浓度大于5 pg/μL时,DNATyper mtDNA-SNP60^(TM)试剂盒能得到完整的分型谱图。综上,DNATyper mtDNA-SNP60^(TM)试剂盒可应用于陈旧、腐败、降解检材的检验,具有很好的实战应用价值。 展开更多
关键词 法医遗传学 DNATyper mtDNA-SNP60^(TM)试剂盒 线粒体DNA 单核苷酸多态性 VeriFiler^(TM)Plus PCR扩增试剂盒 短串联重复序列
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Sequencing of 231 forensic genetic markers using the MiSeq FGxTM forensic genomics system-an evaluation of the assay and software 被引量:2
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作者 Christian Hussing Christina Huber +3 位作者 Rajmonda Bytyci Helle S.Mogensen Niels Morling Claus Bφrsting 《Forensic Sciences Research》 2018年第2期111-123,共13页
The MiSeq FGx^(TM) Forensic Genomics System types 231 genetic markers in one multiplex polymerase chain reaction (PCR) assay.The markers include core forensic short tandem repeats (STRs) as well as identity,ancestry a... The MiSeq FGx^(TM) Forensic Genomics System types 231 genetic markers in one multiplex polymerase chain reaction (PCR) assay.The markers include core forensic short tandem repeats (STRs) as well as identity,ancestry and phenotype informative short nucleotide polymorphisms (SNPs).In this work,the MiSeq FGx^(TM) Forensic Genomics System was evaluated by analysing reproducibility,sensitivity,mixture identification and forensic phenotyping capabilities of the assay.Furthermore,the genotype calling of the ForenSeq^(TM) Universal Analysis Software was verified by analysing fastq.gz files from the MiSeq FGx^(TM) platform using the softwares STRinNGS and GATK.Overall,the performance of the MiSeq FGx^(TM) Forensic Genomics System was high.However,locus and allele drop-outs were relatively frequent at six loci (two STRs and four human identification SNPs) due to low read depth or skewed heterozygote balances,and the stutter ratios were larger than those observed with conventional STR genotyping methods.The risk of locus and allele drop-outs increased dramatically when the amount of DNA in the first PCR was lower than 250 pg.Two-person 50∶1 mixtures were identified as mixtures,whereas 100∶1 and 1000∶1 mixtures were not.Y-chromosomal short tandem repeats (Y-STRs) alleles were detected in the 100∶1 and 1000∶1 female/male mixtures.The ForenSeq^(TM) Universal Analysis Software provided the data analyst with useful alerts that simplified the analysis of the large number of markers.Many of the alerts were due to user-defined,locus-specific criteria.The results shown here indicated that the default settings should be altered for some loci.Also,recommended changes to the assay and software are discussed. 展开更多
关键词 forensic science forensic genetics next generation sequencing short tandem repeats single nucleotide polymorphisms forenseq^(TM)DNA Signature Prep Kit MiSeq FGx^(TM)forensic Genomics System
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ForenSeq^(TM) DNA Signature Prep试剂盒在浙江畲族人群中的法医学应用 被引量:1
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作者 屈轶龄 林源 +10 位作者 杨子豪 陶瑞旸 夏若成 曹正军 高瑞祥 于欢 王紫薇 杨琪 张晓春 张素华 李成涛 《法医学杂志》 CAS CSCD 2021年第6期817-824,共8页
目的评估ForenSeq^(TM) DNA Signature Prep试剂盒(以下简称ForenSeq试剂盒)对浙江畲族人群STR序列的解读能力及法医学应用效能。方法应用MiSeq FGx法医基因组学系统和ForenSeq试剂盒对50例浙江畲族人群样本进行大规模平行测序(massivel... 目的评估ForenSeq^(TM) DNA Signature Prep试剂盒(以下简称ForenSeq试剂盒)对浙江畲族人群STR序列的解读能力及法医学应用效能。方法应用MiSeq FGx法医基因组学系统和ForenSeq试剂盒对50例浙江畲族人群样本进行大规模平行测序(massively parallel sequencing,MPS)检测,采用ForenSeq^(TM)通用分析软件分析测序数据,获取58个STR基因座的分型结果及序列结构信息。将MPS与PCR-CE技术的分型结果进行一致性比对,并计算等位基因频率和群体遗传学参数。结果在50例浙江畲族人群样本中,共观察到448种序列多态性等位基因,与PCR-CE技术检测的片段长度多态性结果相比,基于ForenSeq试剂盒的MPS检测增加了82个等位基因,在6个基因座的侧翼区共发现7个SNP变异。22例男性的24个Y染色体STR基因座中共检测到19种单倍型。27个常染色体STR基因座的累积个体识别率为1-8.87×10^(-30),累积二联体非父排除率为0.999999962640657,累积三联体非父排除率为0.999999999999633。结论基于MiSeq FGx法医基因组学系统使用ForenSeq试剂盒进行MPS检测,极大提高了检测效能。58个STR基因座在所调查的浙江畲族人群中具有良好的遗传多态性,可应用于法医学个体识别和亲权鉴定。 展开更多
关键词 法医遗传学 大规模平行测序 短串联重复 多态现象 遗传 forenseq^(TM)DNA Signature Prep试剂盒 畲族 浙江
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常染色体STR三等位基因型在法医DNA分析中的研究进展 被引量:3
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作者 马晓燕 孙宏钰 黎青 《法医学杂志》 CAS CSCD 2023年第3期240-246,共7页
常染色体STR三等位基因型是法医DNA分析中常见的异常分型现象,给实际检案中证据权重的评估带来困难和不确定性。本文对法医DNA分析中常染色体STR三等位基因型的分类、形成机制、发生率、遗传模式、证据量化评估方法等进行综述,着重基于... 常染色体STR三等位基因型是法医DNA分析中常见的异常分型现象,给实际检案中证据权重的评估带来困难和不确定性。本文对法医DNA分析中常染色体STR三等位基因型的分类、形成机制、发生率、遗传模式、证据量化评估方法等进行综述,着重基于三等位基因型的不同类型阐述其形成机制及相应的遗传模式,并对三等位基因型的判定及其在亲子鉴定和个体识别中的证据量化评估策略进行讨论,为法医DNA分析中科学化、规范化地解析此类异常分型现象提供参考。 展开更多
关键词 法医遗传学 脱氧核糖核酸 常染色体 短串联重复序列 三等位基因型 综述
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Genetic polymorphism analyses of a novel panel of 19 X-STR loci in the Chinese Uygur ethnic minority
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作者 Yu-xin GUO Jian-gang CHEN +11 位作者 Yan WANG Jiang-wei YAN Jing CHEN Tian-hua YAO Li-ping ZHANG Guang YANG Hao-tian MENG Yu-dang ZHANG Ting MEI Yao-shun LIU Qian DONG Bo-feng ZHU 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE CAS CSCD 2016年第5期367-374,共8页
The population genetic data and forensic parameters of 19 X-chromosome short tandem repeat (X-STR) loci in Chinese Uygur ethnic minority are presented. These loci were detected in a sample of 233 (94 males and 139 ... The population genetic data and forensic parameters of 19 X-chromosome short tandem repeat (X-STR) loci in Chinese Uygur ethnic minority are presented. These loci were detected in a sample of 233 (94 males and 139 females) unrelated healthy individuals. We observed 238 alleles at the 19 X-STR loci, with the corresponding gene frequencies spanning the range from 0.0021 to 0.5644. After Bonferroni correction (P〉0.0026), there were no signif- icant deviations from Hardy-Weinberg equilibrium. The cumulative power of discrimination in females and males, and the probability of exclusion of the 19 X-STR loci were 0.999 999 999 999 999 999 998 091,0.999 999 999 999 966, and 0.999 999 986 35, respectively. The cumulative mean exclusion chance was 0.999 999 992 849 in deficiency cases, 0.999 999 999 999 628 in normal trios, and 0.999 999 998 722 in duo cases. The high value of the forensic parameters mentioned above revealed that the novel panel of 19 loci had important values for forensic applications in the LJygur group. 展开更多
关键词 X-CHROMOSOME short tandem repeat (STR) UYGUR genetic polymorphism forensic
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IDentifier DNA分型盒(炎黄34)的法医学验证及应用评估
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作者 高林林 谢炜 +4 位作者 朱素娟 李达 王琴 洪亮 李佑英 《法医学杂志》 CAS CSCD 2023年第6期579-585,共7页
目的 测试IDentifier DNA分型盒(炎黄34)的技术性能指标,评估其法医学应用价值。方法 根据《法庭科学人类荧光标记STR复合扩增检测试剂质量基本要求》(GB/T 37226—2018),从种属特异性、分型准确性、灵敏度、适应性、耐受性、一致性、... 目的 测试IDentifier DNA分型盒(炎黄34)的技术性能指标,评估其法医学应用价值。方法 根据《法庭科学人类荧光标记STR复合扩增检测试剂质量基本要求》(GB/T 37226—2018),从种属特异性、分型准确性、灵敏度、适应性、耐受性、一致性、均衡性、反应条件验证、混合样本、稳定性、批间差11个方面对IDentifier DNA分型盒(炎黄34)进行测试。比较IDentifier DNA分型盒(炎黄34)与Power Plex~?Fusion 6C系统、Versa Plex~?27PY系统、Veri Filer~(TM) Plus PCR扩增试剂盒的系统效能。使用IDentifier DNA分型盒(炎黄34)检测日常案件中的拭子类生物检材,观察其STR检验结果 。结果 IDentifier DNA分型盒(炎黄34)具有良好的种属特异性、分型准确性、适应性、耐受性和均衡性,灵敏度可达0.062 5 ng,能检测案件中不同类型的检材、降解检材及混有抑制剂的检材,对混合比例为4∶1以内的样本均能获得完整分型。该试剂盒的系统效能非常高,TDP可达1-1.08×10~(-37),CPE_(trio)和CPE_(duo)分别可达1-5.47×10~(-14)和1-6.43×10~(-9)。针对案件中的接触类生物检材,其有效检出率可达21.05%。针对亲缘关系鉴定,单亲鉴定和全同胞鉴定的系统效能均得到了有效提高。结论 IDentifier DNA分型盒(炎黄34)的上述性能指标符合要求,可用于个体识别及亲权鉴定,适合在法庭科学领域应用。 展开更多
关键词 法医遗传学 短串联重复序列 IDentifier DNA分型盒(炎黄34) 性能验证 亲缘关系 个体识别
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