首页 | 本学科首页   官方微博 | 高级检索  
相似文献
 共查询到20条相似文献,搜索用时 109 毫秒
1.
目的基于38-plex InDels族群推断体系对中国西北地区新疆汉族、兰州汉族、兰州东乡族、兰州撒拉族、兰州裕固族5个族群的群体遗传结构和族群成分进行研究,评估该体系的推断效能。方法使用38-plex InDels体系检验西北地区5个族群共165份样本并获取InDel位点分型,使用Structure聚类分析、主成分分析及系统发育树综合分析族群间遗传关系,使用族群推断软件(DNA Ancestry Analyzer, DAA)对样本的族群来源进行推断,通过与已知样本信息以及27-plex SNPs族群推断体系检测结果的对比,分析38-plex InDels体系的推断效能。结果 Structure聚类分析和主成分分析显示5个族群的主要祖先成分均为东亚(占88%以上);系统发育树显示新疆汉族、兰州汉族、东乡族、撒拉族、裕固族均聚集到东亚一支,且兰州东乡族、撒拉族、裕固族遗传关系较近;两种族群推断体系检测结果一致性为95.15%(157/165)。结论新疆汉族、兰州汉族、东乡族、撒拉族、裕固族均为东亚族群,兰州东乡族、撒拉族、裕固族遗传关系更近。使用38-plex InDels族群推断体系研究西北地区5个族群的群体遗传结构和遗传关系,结果可供实践应用。  相似文献   

2.
《中国法医学杂志》2019,(2):120-124
目的基于27-plex SNPs族群推断体系对四川地区汉族、藏族、羌族及彝族四个族群遗传结构及成分进行研究。方法使用27-plex SNPs试剂检验四个族群1054份样本并获取SNPs位点分型,利用主成分分析、聚类分析及系统发育树综合分析族群间遗传关系,使用族群推断软件(DNA Ancestry Analyzer,DAA)推断样本的族群来源并统计推断结果的准确性。结果系统发育树显示四川汉族、藏族、羌族、彝族和其他东亚族群共同聚为一支;主成分分析和聚类分析结果显示四川汉族、藏族、羌族及彝族主要祖先成分均为东亚。除1例样本祖先来源不排除东亚或混合族群外,其余1053份样本均来源于东亚。结论四川地区汉族、藏族、羌族和彝族均为典型的东亚族群,藏族、彝族和羌族的遗传关系较近。使用27-plex SNPs族群推断系统对四川汉族、藏族、羌族和彝族进行遗传推断,结果可靠。  相似文献   

3.
目的使用课题组构建的27-plex SNPs和38-plex InDels两套族群推断体系,检测一组维族与回族通婚家系样本,通过两种体系间的相互印证,以获得更可靠的种族分析结果。方法分别利用两套检测体系,对来自一维族—回族通婚家系的三代成员共16份样本进行检测,推断其族源信息。结果 16份样本在两种体系下的推断结果与样本的实际来源信息基本一致,该家族成员的遗传成分呈现出欧亚混合特征。结论本实验室构建的两种不同遗传标记的族群推断体系可以有效区分洲际人群的祖先来源,通过两种体系的相互印证,可为案件的侦查提供更为准确的科学线索和依据,同时38-plex InDels体系具有操作步骤简单,检测时间短,可以直接扩增等优势。  相似文献   

4.
目的基于27-plex SNPs族群推断体系对内蒙古地区汉族、蒙古族、鄂温克族及达翰尔族的遗传结构及族群成分进行研究。方法使用27-plex SNPs试剂盒检验四个人群的989份样本并获取SNPs位点分型,利用STRUCTURE聚类分析、主成分分析及系统发育树综合分析人群之间的遗传关系,使用族群推断软件DAA v1.0(DNA Ancestry Analyzer,DAA)对族群来源进行推断,通过与已知样本信息对比,推断结果的准确性。结果 STRUCTURE聚类分析和主成分分析结果显示调查的四个民族主要族群成分均为东亚(占92%以上);系统发育树显示四个民族与其他东亚族群的亲缘关系较近,聚为一支;除27份样本祖先来源被归为混合族群或不排除混合族群外,其余样本祖先来源均为东亚,推断准确率达97.27%。结论内蒙古地区汉族、蒙古族、达翰尔族及温克族均为东亚族群,蒙古族、达翰尔族及鄂温克族3个少数民族的遗传关系更近。使用27-plex SNPs族群推断系统对内蒙古地区汉族、蒙古族、达翰尔族及鄂温克族进行遗传推断,结果可靠。  相似文献   

5.
27-plex SNPs复合扩增检测体系构建与应用评价   总被引:1,自引:1,他引:0  
目的建立27个常染色体SNPs复合检测体系,用于未知个体种族来源推断。方法通过对Hap Map数据库中描述祖先(非洲、欧洲、东亚)的遗传标记信息分析,选出27个SNPs位点,构建27个SNPs复合扩增体系;采用该体系对17个不同祖先人群的1 164份样本进行测试,得到的分型数据和在Hap Map数据库查询到的11个相关人群的数据;采用据聚类分析方法(K=3)进行祖先成分和匹配率计算,分析推算样品9947A的祖先来源,并进行体系性能验证。结果该体系可以进行单一和混合人群的种族来源和种族成分推断,来自新疆的人群遗传成分呈现在欧洲与东亚祖先之间连续分布,样品9947A祖先成分和匹配率与相关文献分析结果一致。浓度最低为0.1ng/μL时27个等位基因均可正确判型。结论本文构建的27-plex SNPs复合体系可以精确推断非洲、欧洲、东亚血统的个体祖先起源,且对欧亚混合人群(欧洲/东亚)有较好的推断能力,可在相关研究和实践中选择使用。  相似文献   

6.
目的根据已知的HIrisPlex-S色素推断SNP复合检测体系,在中国人群中进行色素表型推断及体系的适用性研究。方法基于SNaPshot平台,构建包含2个复合扩增检测体系的41重SNP色素特征推断体系41-Plex。使用来自中国7个不同地域人群的200个无关个体DNA样本进行体系的准确性测试。通过人工表型分类读取眼睛及头发颜色;通过色素测量仪检测皮肤颜色,并计算个体类型角(individual typology angle,ITA)的数值对肤色进行分类。随后,使用在线推断模型(https://HIrisPlex.erasmusmc.nl/)进行每个样本的色素表型推断并计算准确率和受试者工作特征曲线下面积(the area under the receiver characteristic operating curve,AUC),根据对实验室参与者实际肤色表型的视觉认知,对手臂和脸颊ITA肤色分类标准进行了不同的调整并分别计算AUC值。结果该体系对棕色眼睛颜色推断准确率为97%,对黑色头发颜色推断准确率为100%。在尝试多种肤色分类方法后,得到相对较高的AUC值为:白肤色0.831、中间肤色0.661、深肤色0.641和较黑-黑肤色0.768。结论41-Plex色素推断体系可初步应用于中国人群色素表型推断及疑难案件样本检验中,为案件提供侦查线索。  相似文献   

7.
伴随全基因组测序、生物信息等技术的发展,单核苷酸多态性(single nucleotide polymorphism,SNP)、插入/缺失(insertion/deletion,InDel)等遗传标记被发现并大量应用,从遗传学角度逐步研究获知了现代人群的起源和遗传结构。法医遗传学领域族群地域来源推断研究也应运而生并快速发展,为案件侦办过程中确定侦查方向、缩小排查范围提供了线索和科学依据。本文对目前族群推断技术的研究进展、推断方法、发展趋势等情况进行综述。  相似文献   

8.
目的 使用基于标志点的三维几何形态法对下颌骨进行分析,评估下颌骨形状和大小的性别差异,为进一步了解下颌骨的形态特征及性别推断提供新思路和理论依据。方法 纳入164名北方汉族成年人(男性80名,女性84名)的颅面部薄层CT图像进行三维重建,获取了18个地标,采用普鲁克氏叠加、主成分分析和回归分析等评估了下颌骨大小和形状的性别差异。结果 异速生长分析显示下颌骨大小对形状的影响具有统计学意义(P <0.001),下颌骨大小和形状均具有性别差异,男性下颌骨大于女性,PCA图显示男性和女性下颌骨的重叠较多,逻辑回归表明总体性别推断准确率为67.1%~89.6%。结论 下颌骨大小比形状提供了更多的性别推断信息,当形状和大小信息结合分析时,性别分类精度会较大程度提高。  相似文献   

9.
通过38例锄头致颅脑损伤的法医学尸体检验,分析和研究了锄头的致伤规律、损伤特征,提出了锄创的概念,并对致伤物的推断认定进行探讨.  相似文献   

10.
目的利用牙齿磨耗不同的分类方法分别推断上、下颌的牙齿年龄,分析各种方法推断上、下颌牙齿年龄的误差,评价上、下颌牙齿用于年龄推断的准确性。方法采用分级法与数量化法分别对164名18~46岁之间的成年人进行牙龄推断,计算出推断牙龄与实际年龄的误差,输入SPSS软件对误差的数据进行统计学分析。结果分别使用不同方法对上、下颌牙齿磨耗程度进行年龄推断的结果差别不大。结论上、下颌牙齿用于牙齿磨耗推断年龄的准确性无明显差异。  相似文献   

11.
Tests that infer the ancestral origin of a DNA sample have considerable potential in the development of forensic tools that can help to guide crime investigation. We have developed a single-tube 34-plex SNP assay for the assignment of ancestral origin by choosing ancestry-informative markers (AIMs) exhibiting highly contrasting allele frequency distributions between the three major population-groups. To predict ancestral origin from the profiles obtained, a classification algorithm was developed based on maximum likelihood. Sampling of two populations each from African, European and East Asian groups provided training sets for the algorithm and this was tested using the CEPH Human Genome Diversity Panel. We detected negligible theoretical and practical error for assignments to one of the three groups analyzed with consistently high classification probabilities, even when using reduced subsets of SNPs. This study shows that by choosing SNPs exhibiting marked allele frequency differences between population-groups a practical forensic test for assigning the most likely ancestry can be achieved from a single multiplexed assay.  相似文献   

12.
目的构建27个常染色体AIM-SNP组合用于未知个体种族来源推断。方法通过对Hap Map数据库中描述祖先遗传信息标记的908个AIMs位点(非洲、欧洲、东亚人群)筛选,选出27个AIMs位点组合,利用相关软件同时与数据库908个AIMs不同子集合的分析进行对比,验证其推断祖先来源的可行性。结果应用本研究27个AIMs的SNP多态性分析方法可以正确推断未知样品祖先起源,估算祖先成分比例。结论本研究建立的常染色体27个AIMs的SNP多态性分析方法可准确推断来自于欧洲、非洲、东亚3大祖先血统个体的祖先来源,是SNP多态性分析用于个体种族来源推断的一种有效方法,在法医实践中可以用于DNA检验中未知DNA供者洲际人群祖先来源推断。  相似文献   

13.
目的研究中国青海藏族、汉族mtDNA控制区遗传多态性。方法收集69份青海藏族和青海汉族无关人群外周血样本,对其mtDNA控制区进行序列分析,计算多个多态性指标。结合其他民族mtDNA遗传资料,根据Nei法计算包括青海藏族和汉族群体在内的11个群体之间的Fst和Rst遗传距离.进行聚类分析,绘制系统发生树。结果在青海藏族和汉族群体mtDNA控制区中分别发现56和59个多态性位点。Rst遗传距离显示青海藏族人群与各人群之间遗传距离均较远(P〈0.05);青海汉族人群与西安汉族、蒙古族、长沙汉族等人群之间距离较近(P〉0.05)。结论我国青海藏族和汉族人群mtDNA具有相对独特的遗传特征,其遗传多态性和个体识别力较高,可用于民族起源、迁徙、法医学个体识别等领域研究。  相似文献   

14.
STR loci are characterized by extremely high mutation rates and thus, high levels of length polymorphism both within and among populations. In addition, much of the observed variation is believed to be nearly selectively neutral. Because of these features, STRs are ideal markers for genetic mapping, intra-species phylogenetic reconstructions and forensic analysis. In the present study, we investigate the application of five STR loci (CS1PO, TH01, TPOX, FGA and vWA) routinely used in forensic analysis for delineating the phylogenetic relationships of 10 human populations representing the three major racial groups (African-Caribbean, Croatian from the island of Hvar, East Asian, Han Chinese, Italian, Japanese, Portuguese, UK Caucasian, US Caucasian and Zimbabwe). The resulting tree topology exhibited strong geographic and racial partitioning consistent with that obtained with mtDNA haplotypes, Y-chromosome markers, SNPs, PAIs (polymorphic Alu insertions) as well as classic genetic polymorphisms. These findings suggest that forensic STR loci may be particularly powerful tools and provide the necessary fine resolution for the reconstruction of recent human evolutionary history.  相似文献   

15.
Forensic scientists use genetic individualization markers to include or exclude persons of interest in investigations. However, when there are no suspects due to absence of database matches or eye-witness information, prediction of biogeographical ancestry can be a valuable investigative tool. The SNPforID 34-plex uses 34 autosomal markers to predict ancestry from three geographic regions, Africa, Europe and East Asia. However, its ability to identify levels of admixture within individuals is unclear. We tested the 34-plex assay in 56 individuals from 15 families with varying levels of self-declared Asian/European admixed ancestry. STRUCTURE 2.3.4 was used for population structure analysis and cluster information provided inferences on levels of admixture. Chi-square tests were performed to evaluate the ability of the SNPforID 34-plex to predict level of admixture. The average/SD Asian and European contribution for individuals self-declared as first generation since admixture was 0.46/0.13 and 0.54/0.13, respectively. As expected, the average European contribution increased for individuals of 1/4, 1/8 and 1/16 Asian/European ancestries – 0.78/0.13, 0.89/0.05 and 0.91/0.03, respectively. There were no significant differences between observed and expected average contribution from each ancestry. However, individual outliers were observed, which could have been misclassified if analyzed separately. These results suggest the 34-plex can be a reliable tool to predict levels of admixture; however caution is required when an individual sample is investigated. A larger number of markers, combined with increased sample sizes comprising varying levels of admixture of different biogeographical ancestries, are required to enhance the ability to predict an individual's level of biogeographical ancestry.  相似文献   

16.
To explore the genetic polymorphisms of 12 X-STR loci for Guangdong Han population and other five minor ethnic populations (Tibetan, Mongolian, Korean, Uighur and Hui) in China, 1298 samples from unrelated individuals of these 6 ethnic populations were amplified with Investigator™ Argus X-12 multiplex PCR system. 238 alleles were observed totally, which included 66 off-ladder alleles. All the loci showed no difference in sex-related allele frequency. The combined discrimination power (CDP) was ranged from 0.999999996 to 0.999999999 in males for these 6 populations and the CDP value in females was all reached 0.999999999. The combined mean exclusion chance (CMEC) was ranged from 0.999998336 to 0.999999926 in duo paternity cases and 0.999999987 to 0.999999999 in trio paternity cases in 6 populations. All of the 12 loci were in accordance with Hardy–Weinberg equilibrium after Bonferroni's correction. Linkage disequilibrium was observed for DXS10103–DXS10101 pair in 6 populations. Significant differences between all pairs of populations were observed at 2–11 loci respectively. The phylogenetic tree consisted of two main branches for these 6 populations, which was consistent with the geographic and historic distributions.  相似文献   

17.
目的获得南方汉族群体的基因多态性信息,分析16个东亚各人群的族源关系。方法 2018年3~7月收集贵州省和江西省汉族群体中健康且无亲缘关系的720份个体血液样本,其中贵州省407份,江西省313份。使用短串联重复序列(STR)试剂盒扩增检测样本,获得法医学参数;通过文献获取湖北汉族,湖南汉族,四川汉族,重庆汉族,贵州布依族、侗族和苗族,云南白族、彝族、哈尼族和纳西族,广西壮族以及日本和韩国共14个人群的法医学参数,采用Arlequin v3.5遗传软件计算16个东亚人群(本研究的贵州汉族、江西汉族以及文献获得的14个人群)之间的相对遗传距离(Fst),采用SPSS 21.0统计学软件进行多维尺度分析(MDS)和主成分分析(PCA),MEGA6软件绘制系统进化树。结果在贵州汉族人群中,累积个人识别率为1-3.3080×10-23,累积非父排除率为1-3.1792×10-8。在江西汉族人群中,累积个人识别率为1-5.4721×10-23,累积非父排除率为1-1.6544×10-8。少数民族(贵州布依族、贵州侗族、贵州苗族、广西壮族、云南哈尼族和云南纳西族)与汉族群体间存在明显的遗传距离。日本人群与汉族群体的遗传距离最大,韩国人群与汉族群体具有较近的遗传距离。进化树结果表明贵州汉族、江西汉族群体与其他汉族群体聚集在一起,未见明显区别。结论 14个基因座在贵州、广西人群中遗传多态性较好,少数民族与汉族之间、日本与汉族之间的遗传差异明显,而汉族人群内部遗传差异不明显。  相似文献   

18.
Abstract:  The cytochrome b gene (MTCYB) has been widely used in taxonomic research. In this study, the sequence polymorphism of the MTCYB gene was determined in 417 subjects of eight populations living in Taiwan (Taiwanese Han, indigenous Taiwanese, Tao, mainland Chinese, Filipino, Thai, Vietnamese, and Caucasian). Sequence variation from the revised Cambridge Reference Sequence and genetic distance between these populations were analyzed. There were 108 variable positions with a total of 99 haplotypes. Population-specific positions of MTCYB gene were noted in Tao and Caucasian populations. There were statistically significant differences of genetic distance between Taiwanese Han and Caucasian, between Taiwanese Han and Tao, and between Taiwanese Han and Filipino. A phylogenetic tree presents the genetic distances between these populations. In conclusion, there are sufficient sequence polymorphisms of the MTCYB gene in individuals of different populations, which may be used in the analyses of human ethnic groups in forensic casework.  相似文献   

19.
Allele frequencies of 30 InDel markers previously selected and validated for forensic purpose were assessed in 419 unrelated individuals originating from five different populations of Chinese Han, Chinese Hui, Uighur, Mongolian and Tibetan in P.R. China. Hardy–Weinberg equilibrium tests and linkage disequilibrium analysis were performed and the results showed that allele frequency distributions of the 30 InDel markers had meet the genetic equilibrium in all of the five populations and the InDel markers on same chromosome did not generate any linkage block. Analysis of molecular variance (AMOVA) indicated that genetic variation among the 5 studied populations represent only 4.00% of the total genetic diversity. We observed the cumulative power of discrimination (CPD) for each studied population was 0.99999999999841 in Chinese Han population, 0.99999999999690 in Chinese Hui population, 0.99999999999709 in Uighur population, 0.99999999999772 in Mongolian population and 0.99999999999854 in Tibetan population.  相似文献   

20.
The scientific working group on DNA analysis Methods (SWGDAM) mitochondrial DNA (mtDNA) population data set is used to infer the relative rarity of control region mtDNA profiles obtained from evidence samples and of profiles used for identification of missing persons. In this study, the African American haplogroup patterns in the SWGDAM data were analyzed in a phylogenetic context to determine relevant single nucleotide polymorphisms (SNPs) and to describe haplogroup distributions for Africans observed in these data sets. Over 200 SNPs (n=217) were observed in the African American data set (n=1148). These SNPs ranged from having 1-39 changes in the phylogenetic tree, with sites 152 and 16519 being the most variable. On average there were 5.8 changes for a character on the tree. The most variable sites (with 19 or more changes each) observed included 16093, 16129, 16189, 16311, 16362, 16519, 146, 150, 152, 189, and 195. These rapidly changing sites are consistent with other published analyses. Only 34 SNPs are needed to identify all clusters containing 10 or more individuals in the African American data set. The results show that the African American SWGDAM mtDNA data set contains variation consistent with that described in continental African populations. Thirteen of the 18 haplogroups previously observed in African populations were observed and include: L1a, L1b, L1c, L2a, L2b, L2c, L3b, L3d, L3e1, L3e2, L3e3, L3e4 and L3f. Haplogroup L2a is the most commonly observed cluster (18.8%) in the African American data set. The next most common haplogroups in the African American data set include the clusters L1c (11.0%), L1b (9.1%), L3e2 (9.0%) and L3b (8.1%). Approximately 8% of the haplogroups observed within African Americans were common in European Caucasians or East Asians; these were H (n=32), J (n=4), K (n=5), T (n=2), U5 (n=6), U6 (n=9 also known from North Africa), A (n=12), B (n=7), C (n=4), and M (n=16), respectively. The European Caucasian and East Asian haplogroups are expected due to admixture between individuals with recent ancestry in Western Eurasia and sub-Saharan Africa. The genetic characterization of these relevant data sets is fully consistent with other published mtDNA genetic variation. The sequence diversity observed in this data set makes it a valuable tool for forensic applications.  相似文献   

设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号