贵州汉族19个STR基因座多态性及法医学应用

目的调查19个常染色体STR基因座在贵州汉族人群中的等位基因分布,评估其在法医学中的应用价值。方法应用Goldeneye~(TM) DNA身份鉴定系统20A试剂盒,研究贵州520名汉族无关健康个体19个常染色体STR基因座多态性。用310型遗传分析仪进行毛细管电泳,Gene Mapper~ID v3.1进行基因分型。结果 19个常染色体STR基因座的杂合度为0.603 8~0.916 4,个体识别率为0.790 0~0.985 6,非父排除率为0.295 5~0.826 9,多态信息含量为0.553 5~0.908 9,累积个体识别率为1-1.230 0×10~(-22),累积非父排除率为0.999 999 99。贵州汉族和其他五个地域的汉族两两之间等位基因频率比较,仅贵州汉族与山东汉族、辽宁汉族、山西汉族之间存在基因频率差异具有统计学意义。结论 D19S433等19个常染色体STR基因座在贵州汉族人群中具有良好的遗传多态性,对群体遗传学和法医物证学研究有应用价值。     

Genetic diversity and phylogenetic analysis of Chinese Han and Li ethnic populations from Hainan Island by 30 autosomal insertion/deletion polymorphisms

With the characteristics of low mutation rate, length variation and short amplicon size, insertion/deletion polymorphisms (InDels) have the advantages of both short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs). Herein, people of two ethnicities from Hainan Island were genotyped for the first time using the Investigator DIPplex kit. We investigated the forensic parameters of the 30 InDels and the phylogenetic relationships among different populations. The accumulated powers of discrimination and powers of exclusion were 0.999 999 999 9646 and 0.9897 in the Hainan Han population and 0.999 999 999 9292 and 0.9861 in the Hainan Li population, respectively. Additionally, population comparisons among geographically, ethnically and linguistically diverse populations via cluster heatmap, multidimensional scaling, principal component analysis, phylogenetic tree and STRUCTURE analyses demonstrated that the Hainan Han population had genetic similarities to the other Han, She and Tujia populations, while the Hainan Li population had close genetic relationships to the Zhuang and Miao groups; both populations had a high degree of genetic differentiation from most Turkic-speaking populations. Aforementioned results suggested that the 30 autosomal InDels are highly polymorphic and informative, which are suitable for human identification and population genetics.     

云南玉溪汉族15个STR基因座多态性及遗传关系分析

目的调查玉溪汉族人群15个STR基因座的遗传多态性,并分析与国内部分地区汉族群体的遗传关系。方法采用AmpFLSTR Identifiler试剂盒,复合扩增15个STR基因座,计算基因频率及法医学参数;收集国内其他10个群体的遗传学资料进行遗传距离和聚类分析。结果玉溪汉族群体15个STR基因座等位基因及基因型分布符合Hardy-Weinberg平衡定律,PD值在0.790 6～0.968 1之间,PE值在0.315 9～0.733 5之间,PIC值在0.554 6～0.856 4之间,15个基因座累积个体识别力为0.999 999 999 999 999 99,累积非父排除率为0.999 998。不同地区汉族群体间遗传距离分析提示,玉溪汉族与成都汉族遗传距离最近(0.004 0),其次是河南(0.004 5)和潮汕(0.004 7);内蒙古最远(0.036 1)。结论云南玉溪汉族15个STR基因座具有较高的遗传多态性,适于该群体的法医学应用,遗传关系分析结果可为该群体的起源、迁徙及与其他群体的遗传关系分析提供参考。     

Comparisons between Japanese and Han Chinese populations for 261 autosomal STR loci

In this study, Japanese and Han Chinese individuals (n = 32, each) were genotyped for 261 autosomal STRs, and allele frequencies were calculated for each locus in each population. The average number of alleles for all loci in Japanese and Han Chinese populations was 6.65 and 6.56, respectively. The tests for deviations from HWE performed using an exact test showed that the number of STRs (P > 0.05) in Japanese and Han Chinese populations was 236 and 241, respectively. Calculation of forensic parameters showed heterozygosity, and the exclusion means in the Japanese population were 0.7185 and 4813 and those in the Han Chinese population were 0.7308 and 0.5008. In addition, population genetic analyses, such as principal component analysis and factorial correspondence analysis, were performed and a differential formula with likelihood ratios was applied for various number of STR loci based on the effectiveness of differentiation between the two populations. Accordingly, this study suggests that statistical differentiation between genetically close populations, such as the Japanese and Han Chinese populations, is possible if approximately 40–50 effective STR loci are analyzed.     

1066例新疆汉族人群21个常染色体STR基因座遗传多态性分析

目的研究21个常染色体STR基因座(CSF1PO,D3S1358,D5S818,D7S820,D8S1179,D13S317,D16S539,D18S51,D21S11,FGA,TH01,VWA,D2S1338,D19S433,D1S1656,D12S391,D2S441,D10S1248,TPOX,D22S1045,SE33)在新疆汉族人群中的遗传多态性。方法用GlobalFiler^TM R PCR Amplification荧光标记试剂盒对1066例新疆汉族无关个体的DNA进行PCR扩增,3500遗传分析仪电泳分析,用GeneMapper■ID-X v1.4软件分析等位基因片段大小,用Modified-Powerstates和Arlequin v3.5分析软件进行等位基因频率和法医学常用参数统计分析。结果在新疆汉族人群中,21个常染色体STR基因座不存在连锁不平衡现象,基因型分布符合Hardy–Weinberg平衡,共检出282个等位基因和1147种基因型,杂合度期望值(He)范围从0.6291(TPOX)到0.9428(SE33),多态信息含量(PIC)范围从0.5648(TPOX)到0.9393(SE33),累计个体识别率(CDP)>0.99999999999999999999。结论新疆汉族人群21个常染色体STR基因座具有较高多态性,可以用于法医学亲权鉴定和个体识别,也可以用于人类学和遗传学研究。     

Genetic polymorphisms of 16 X-STR loci in the Hani population from Southwest China

X chromosomal short tandem repeats (X-STRs) have the characteristics of both autosomal and uniparental genetic markers and have been shown to be particularly useful in forensic casework. However, relevant research or reports have not focused on X-STRs in the Hani population. To investigate the genetic variation and forensic efficiency of 16 X-STR loci in the Hani ethnic minority, we calculated the allele frequencies and forensic parameters of 451 (116 males and 335 females) unrelated healthy Hani individuals from Yunnan Province, Southwest China. All these loci are highly polymorphic in Hani individuals in Yunnan Province except DXS6800. The combined power of discrimination in males (PD_M) and power of discrimination in females (PD_F) were found to be 0.999 999 998 433 993 and 0.999 999 999 999 998, respectively. Furthermore, a population genetic structure investigation between the Yunnan Hani population and another 18 populations was performed using a principal component analysis, multidimensional scaling plot and neighbouring-joining phylogenetic tree and the findings illustrated that neighbouring populations and different nationalities in the same area appeared to have a closer evolutionary relationship. This study provides the first batch of X chromosome genetic polymorphism data of the Hani population in Yunnan Province, Southwest China and enriches the reference database of the Chinese minority population.

Key points

• This is the first study of X-STR in the Hani population.
• We calculated the allele frequencies and forensic parameters of 451 unrelated healthy Hani individuals from Yunnan Province, Southwest China.
• All these loci are highly polymorphic in Hani individuals in Yunnan Province except DXS6800.
• The genetic relationship between the Hani and other 18 nationalities was analyzed.
• This study provides the first batch of X chromosome genetic polymorphism data of the Hani population in Yunnan Province, Southwest China and enriches the reference database of the Chinese minority population.

     

湖南汉族人群21个STR基因座的遗传多态性(英文)

目的调查湖南地区汉族人群21个STR基因座(D3S1358、D13S317、D7S820、D16S539、Penta E、D2S441、TPOX、TH01、D2S1338、CSF1PO、Penta D、D10S1248、D19S433、v WA、D21S11、D18S51、D6S1043、D8S1179、D5S818、D12S391和FGA)的遗传多态性。方法共采集560例湖南汉族健康无关个体血液样本,使用Chelex-100法提取DNA,应用AGCU EX22试剂盒及9700 PCR扩增仪进行复合扩增,扩增产物使用310遗传分析仪进行分离分析。结果共发现248个等位基因,等位基因频率分布在0.001~0.518。除Penta E(P=0.023)外,其余基因座的基因型分布均符合Hardy-Weinberg平衡。21个基因座的累积个人识别率、累积非父排除率、累积匹配率分别为0.999 999 999 999 999 999 999 999 8、0.999 999 998和1.36×10-25。结论 21个STR基因座在湖南汉族人群中呈高度多态性。本研究可为法医学个人识别及亲子鉴定提供有价值的数据及理论基础。     

10个STR基因座荧光复合扩增体系的研制

目的建立10个STR基因座荧光标记复合扩增体系,并评价其法医学应用价值。方法在北京、山西、广东汉族,辽宁满族、西藏藏族群体中调查STR基因座遗传多态性,筛选出9个具有高度多态性和法医应用价值的STR基因座及性别基因座。构建四色荧光素标记复合扩增体系,制备等位基因分型标准物,编制分析软件,并对体系的种属特异性、灵敏度、稳定性、混合样本等检测能力进行考察。结果建立的复合扩增体系遗传稳定好,累积非父排除率可达0.999 96,累积个体识别率可达0.999 999 999 999 3;与CODIS系统均不存在连锁遗传;各基因座间布局合理、无杂峰、扩增结果清晰易辨,并可实现检测分析自动化。体系种属特异性较好,灵敏度为0.1ng,稳定性好,混合样本检出范围在2∶8～8∶2之间。实际案例检材检测结果好。结论本文建立的复合扩增体系在法医学实践中有较好的应用价值。     

Population genetics data of 23 autosomal STR loci for three Populations in United Arab Emirates

In the present study, forensic parameters were estimated for three populations residing in the United Arab Emirates (UAE) including UAE Arabs, Pakistanis and Indians based on the population data of 23 autosomal short tandem repeats (STRs). The UAE Arabs is a vital population to study due to high rates of consanguineous marriages. Therefore, it is essential to estimate the allele distribution and frequencies within this population. In addition, it is crucial to study the largest communities living in the UAE such as Indians and Pakistanis. A total of 1272 blood samples were collected on FTA® cards, comprising of 571 UAE Arabs, 352 Indians and 349 Pakistanis. All of these samples were amplified directly using Verifiler® Express PCR Amplification Kit that focuses on 23 autosomal STR loci, namely D3S1358, vWA, D16S539, CSF1PO, TPOX, D8S1179, D21S11, D18S51, D2S441, D19S433, TH01, FGA, D22S1045, D5S818, D13S317, D7S820, D10S1248, D1S1656, D12S391, D2S1338, D6S1043, Penta D and Penta E loci. The PCR products were electrophoresed on ABI 3500 Genetic Analyzer and analyzed using GeneMapper ID-X v1.4 software. Arlequin v3.5 and PowerStats software were utilized to determine the forensic parameters and population structure using AMOVA. Gene diversity, ranged from 0.67406 (TPOX) to 0.9226 (Penta E) in the UAE Arabs, 0.69955 (TPOX) to 0.9214 (Penta E) in Indian and 0.69853 (TPOX) to 0.921 (Penta E) in Pakistani population. The most discriminating autosomal STR loci observed was Penta E (PD = 0.985), (PD = 0.986), (PD = 0.986) in the UAE Arabs, Indian and Pakistani population, respectively. The obtained results showed the 23 STR loci had a relatively high genetic variation, confirming the suitability for forensic identification and kinship analysis, in the relevant populations. The significance of this study is to build an allelic frequency database for one of the most powerful commercially available STR amplification kits by using the current forensic workflow.     

Genetic variation at 15 autosomal microsatellite loci in the three highly endogamous tribal populations of Orissa, India

Although microsatellite diversity in autosomal chromosomes has been extensively described for many of the Indian populations, there is still a lacuna left on information about the genetic diversity of tribal populations. This paper reports the genetic data on the three tribal populations belonging to the Austroloid ethnic group from Orissa (Juang, Paroja and Saora). The 15 STR (D3S1358, THO1, D21S11, D18S51, PentaE, D5S818, D13S317, D7S820, D16S539, CSF1PO, PentaD, vWA, D8S1179, TPOX, FGA) polymorphism would help to accentuate the STR database for better understanding of population genetics and forensic applications. The microsatellites included in the system are found to be highly polymorphic, with the combined power of exclusion being greater than 0.999, in all the three investigated populations.     

云南苗族常染色体STR遗传多态性及其遗传结构分析

目的研究云南苗族常染色体9个STR基因座遗传多态性并分析其遗传结构。方法采用荧光标记PCR复合扩增、基因扫描自动分型技术调查了87名云南苗族无关健康个体9个STR基因座等位基因分布情况。结果9个基因座共检出52种等位基因和109种基因型,等位基因频率分布在O．0057～0．7184。经计算杂合度（H）为0．4023-0．8161、多态信息量（PIC）为0．4090～0．8057、个体识别力（DP）为0．6429。0．9436、非父排除率（PE）为0．1153～0．5654。X^2检验显示所有基因座均符合Hardy—Weinberg平衡。聚类分析结果显示．苗族、僳僳族、傣族、德昂族、普米族及景颇族遗传关系较近。结论为进一步研究STR遗传结构奠定了基础．在人类学、法医学等领域也有重要的应用价值。     

岫岩满族9个STR基因座遗传多态性

目的用复合荧光扩增体系调查辽宁鞍山岫岩满族无关个体D6S1043、D7S3048、D9S925、D11S2368、D14S608、D15S659、D17S1290、D20S470和GATA198805等9个STR基因座的遗传多态性。方法用本实验室构建的9个常染色体STR基因座荧光复合扩增体系．对辽宁鞍山岫岩满族252个...     

19个常染色体与4个Y染色体STR复合扩增体系的建立

目的建立19个常染色体STR及Amelogenin和4个Y染色体STR基因座复合扩增体系,并对其效能进行评估。方法用五色荧光标记20＋4Y—STR基因座,建立同步扩增检测体系,用ABI3130XL遗传分析仪对扩增产物进行电泳,GeneMapperID3．2软件进行基因分型;检测体系的灵敏度、均衡性、稳定性、特异性、同一性和稳定性,并观察混合、降解及微量检材的分型情况。结果采用本文体系,DNA模板量在0．05～1．00ng时,分型准确,均衡性、特异性好;混合、降解及微量检材分型正确。该19个常染色体STR基因座的累计个人识别率大于0．999999999,三联体累计非父排除率达0．999999985,Y—STR单倍型多态性为0．592。结论本文建立的复合扩增体系分型准确,稳定,在法医学案件检验及数据库建设等方面有良好的应用前景。     

中国鄂温克族DXS7423，DXS7424，DXS7132，DXS7133，DXS6804位点多态性的研究

目的以无关个体为研究对象,研究鄂温克族人群X染色体5个STR位点的遗传多态性,建立群体遗传数据库。方法用聚合酶链反应(PCR)、变性聚丙烯凝胶电泳和银染的方法,检测98名中国鄂温克族DXS7423,DXS7424,DXS7132,DXS7133,DXS6804位点的重复序列长度的变化。结果5个STR位点在鄂温克族群体均具有遗传多态性,χ2检验表明多态性分布符合Hardy-Weinberg平衡定律。结论中国鄂温克族X染色体5个STR基因座群体遗传数据资料,可用于法庭科学个体识别、亲子鉴定及其他人类学研究。     

67个X-SNP位点的分型检测和连锁不平衡检验

目的 筛选一组在中国汉族人群中具有法医学应用前景的X-SNP位点.方法 根据dbSNP和HapMap两个数据库提供的位点信息和频率数据从X染色体上筛选出67个候选X-SNP位点,采用多重PCR联合基质辅助激光解析电离飞行时间质谱技术检测中国汉族人群428名无关个体,获得67个候选X-SNP位点在中国汉族人群中的频率数据...     

南通汉族人群17个Y-STR基因座的遗传多态性

目的分析南通汉族人群的基因表型,评测17个Y-STR基因座在南通人群中的应用价值。方法采集343名南通汉族男性无关个体的外周血样本,通过Chelex-100法提取基因组DNA,用Amp FlSTR Yfiler~(TM)试剂盒进行基因分型,并与12个汉族人群[安徽、江苏、江西、山东、上海、浙江(1)、兰州、南阳、泸州、牡丹江、山西和浙江(2)]以及9个少数民族人群(蒙古族、锡伯族、拉萨藏族、青海藏族、哈萨克族、维吾尔族、满族、台湾排湾族和土家族)进行比较。结果南通汉族群体在17个Y-STR基因座共检出327种单倍型,单倍型多样性(haplotype diversity,HD)值为0.999 7,与其他人群间的R_(st)值范围为-0.000 6~0.263 5。多维尺度图结果显示南通汉族人群与大多数汉族人群之间差异无统计学意义,但明显有别于其他少数民族人群。结论 17个Y-STR基因座在南通汉族人群中的群体多态性高,具有法医学应用价值。     

Efficiency Analysis of EX16 +10Y Kit on Detection of the Uygur Population in Xinjiang ProvinceCSCD

Objective: To analyse the efficiency of EX16+10Y kit on the forensic detection of the Uygur in Xinjiang province. Methods: The blood samples were extracted from 4 620 male individuals of Uygur in Xinjiang province, and amplified by EX16+10Y kit. The typing of amplification products was performed by 3130xl genetic analyzer. Results: The genotyping graphs of 15 autosomal STR loci and 10 Y -chromosomal STR loci from 4 620 male individuals of Uygur in Xinjiang province were acquired completely. The genotype distribution of 15 autosomal STR loci was consistent with Hardy-Weinberg equilibrium. The heterozygosity, polymorphism information content and discrimination power of STR loci were 0.637-0.838, 0.580-0.860 and 0.811-0.978, respectively. There were 766 haplotypes in 10 Y -chromosomal STR loci. Conclusion: The test results of EX16+10Y kit is accurate and trustworthy, which can simultaneously be used for the individual identification and the screening of paternal pedigree in practical work. © 2018 by the Editorial Department of Journal of Forensic Medicine.     

五色荧光标记20个基因座复合扩增体系及法医学应用

目的建立20个基因座五色荧光标记复合扩增检测体系,并评价其法医学应用价值。方法收集368份无关人血样及55份实际案例样本(包括血斑、体液斑、组织及毛发),采用五色荧光素标记技术,对Amelogenin和19个STR基因座(D19S433、D5S818、D21S11、D18S51、D6S1043、D3S1358、D13S317、D7S820、D16S539、CSF1PO、Penta D、vWA、D8S1179、TPOX、Penta E、TH01、D12S391、D2S1338和FGA)进行基因型检测,并考察方法的一致性、灵敏度、种属特异性及检材适用性。结果本文五色荧光标记复合扩增检测体系可对所选20个基因座分型,结果稳定准确,且均衡性良好、无杂峰;群体调查显示累积个人识别率和累积非父排除率分别是0.999 999 999 999 999 999 999和0.999 999 99;灵敏度达125pg,种属特异性高,实际案例检材分型成功率高。结论本文五色荧光标记复合扩增检测体系各项指标可达到当前商品化试剂盒的检测水平,具有重要的法医学应用价值。     

云南苗族常染色体STR遗传多态性及其遗传结构分析

目的研究云南苗族常染色体9个STR基因座遗传多态性并分析其遗传结构。方法采用荧光标记PCR复合扩增、基因扫描自动分型技术调查了87名云南苗族无关健康个体9个STR基因座等位基因分布情况。结果9个基因座共检出52种等位基因和109种基因型,等位基因频率分布在0.005 7～0.718 4。经计算杂合度(H)为0.402 3～0.8161、多态信息量(PIC)为0.4090～0.8057、个体识别力(DP)为0.6429～0.943 6、非父排除率(PE)为0.115 3～0.565 4。x~2检验显示所有基因座均符合Hardy-Weinberg平衡。聚类分析结果显示,苗族、僳僳族、傣族、德昂族、普米族及景颇族遗传关系较近。结论为进一步研究STR遗传结构奠定了基础,在人类学、法医学等领域也有重要的应用价值。     

Genetic investigation of Chinese she ethnic based on autosomal STRs and X-STRs

The She ethnic is a large minority in China with approximately 700,000 individuals. For more than one thousand years, they mainly resided in Zhejiang and Fujian provinces. To obtain a better understanding of the genetic background of She, we investigate 21 autosomal STRs (A-STRs) and 16 X-STRs in 296 unrelated healthy individuals from Zhejiang She population. Allele frequencies and forensic parameters prove these markers are useful for forensic application. We also investigate the genetic background with the two types of markers. Nei genetic distances between She and Eastern Han population are always the lowest, regardless of the markers used for analysis. Although the tested STRs are located on different chromosomes with different inheritance laws, A-STRs and X-STRs provided in general congruent phylogenetic signal and similar cluster among compared groups. These results demonstrated that geographic isolation and interactions play significant roles in differentiation of genetic constitution of ethnic groups.