Population genetics of 15 autosomal STR loci in the population of Pomorze Zachodnie (NW Poland)

Allele frequency data and forensic efficiency parameters for 15 STR loci: D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, FGA were estimated from a sample of 600 unrelated individuals from the Pomorze Zachodnie (NW Poland). The combined MP and PE for all 15 loci are 3.9 × 10⁻¹⁸ and 0.9999988, respectively. Pairwise comparisons between Northwestern Poland and other Polish populations were performed.     

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.     

Evaluation of population variation at 17 autosomal STR and 16 Y-STR haplotype loci in Croatians

Seventeen autosomal STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818, FGA, Penta E and Penta D) and 16 Y-STR haplotype loci (DYS19, DYS385, DYS389I, DYS398II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 and GATA H4.1) were analyzed in the sample of 200 unrelated Croatians. The agreement with HWE was confirmed for all autosomal STR loci. The combined power of discrimination (PD) and the combined power of exclusion (PE) for the 17 autosomal STR loci were 0.999999999999999999682299331476 and 0.99999995, respectively. Penta E proved to be the most informative autosomal STR locus. Among 200 Croatian males, 197 Y-STR haplotypes were identified and haplotype diversity was estimated at 0.9998 ± 0.0005.     

Population genetics of 17 Y-chromosomal STR loci in Japanese

Haplotypes and allele frequencies of 17 Y-chromosomal short tandem repeat (Y-STR) markers were examined using the AmpFlSTR Yfiler PCR Amplification Kit (Applied Biosystems) in a population sample of 1166 Japanese male volunteers in 6 prefectures: Miyagi, Yamagata, Osaka, Tottori, Fukuoka, and Okinawa. A total of 1058 haplotypes were observed from 1166 males, and the most common haplotype detected in 12 males had a frequency of 1.03% and the discrimination capacity was 0.907. The R_ST analysis showed statistically significant differences between Okinawa and the other subpopulations.     

Genetic variation of 23 STR loci in a Northeast Colombian population (department of Santander)

The most efficient markers to solve filiation cases are the STRs, including complex cases that require the analysis of a greater number of markers. In this study samples from 123 unrelated individuals from the department of Santander (northeast Colombia) were typed for 23 autosomal STRs included in VeriFiler express kit (Thermo Fisher Scientific),and their allele frequencies and parameters of forensic relevance were determined. Results demonstrate independence within and between the loci analyzed, and the accumulate power of exclusion for the full set of markers was high (99.9996%), as well as the match probability, which was 1 in 8.77E + 29. Therefore, this northeast Colombian population database can be used in forensic to estimate the frequency of the genetic profile using of a multiple locus including in this DNA kit.     

The Upper Silesia (Poland) population and forensic usefulness of 15 autosomal STR loci

Allele frequencies, forensic parameters for the 15 STR loci in the AmpFlSTR^® Identifiler Kit (Applied Biosystems), D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D19S433, VWA, TPOX, D18S51, D5S818 and FGA were determined in a sample of 150 unrelated dead and alive adults from the Upper Silesia region (Poland). The values of heterozygosity (Ht), polymorphic information content (PIC), power of discrimination (PD), matching probability (PM), mean exclusion chance (MEC) and mean exclusion probability (MEP) were calculated. Possible divergence from HWE was determined. Comparison of allele frequencies for examined STR loci between the Upper Silesia population and other Polish populations was carried out.     

成都汉族群体10个STR基因座的遗传多态性

目的获得成都汉族群体10个短串联重复序列（short tandem repeat,STR）基因座的群体遗传学数据,评估其法医学应用价值。并对其种属特异性进行研究。方法Chelex法提取100名无亲缘关系的成都汉族个体血液样本的DNA,PCR扩增,非变性聚丙烯酰胺凝胶电泳,硝酸银显色分型。选择10种常见的动物样本进行种属特异性研究,对上述10个基因座的种属特异性进行评价。结果D1S2145、D3S2433、D5S1507、D5S2502、D8S2319、D9S926、D16S767、D17S2181、GATA140E03和GATA196B10基因座在成都汉族群体中等位基因个数分别为6、5、8、5、6、7、7、5、7和7,基因型个数分别为17、14、28、15、16、18、15、14、19和21;等位基因和基因型频率分布均符合Hardy-Weinberg平衡定律。经与10种动物样本比较,D3S2433、D5S1507、D5S2502、D8S2319和CATA196B10有较好的种属特异性,其余基因座分型区内少部分动物有扩增产物。结论上述10个STR基因座在成都汉族群体中具有较好的遗传多态性,在个体识别和亲权鉴定中具有一定的应用价值。     

Population genetics of 25 Y-STR loci in Chinese Han population from Liaoning Province,Northeast China

In this study, we investigated the genetic characteristics of 25 Y-chromosomal short tandem repeat loci in 305 unrelated Chinese Han male individuals from Liaoning Province, using AmpFISTR® Yfiler® Plus amplification kit. A total of 293 different haplotypes were observed at the 25 Y-STR loci; among them, 281 were unique and 12 were occurred twice. The overall haplotype diversity was 0.9997 and the discrimination capacity was 0.9607. The gene diversity values ranged from 0.4525 (DYS391) to 0.9617 (DYS385). Population relationships between our data and other published populations were measured by Rst and visualized in two multi-dimensional scaling plots. The results showed that the 25 Y-STR loci in Liaoning Han population are valuable for forensic application and human genetics.     

Genetic analysis of 15 STR loci in the population of Zhejiang Province (Southeast China)

Fifteen autosomal STR loci were analyzed from a population sample of 598 unrelated individuals residing in Zhejiang Province. We report allele frequencies distribution and statistical parameters for all 15 STR loci, D8S1179, D21S11, D7S820, CSF1PO, D3S1358, THO1, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818 and FGA. Allele frequencies, the observed heterozygosity (Ho), the polymorphic information content (PIC), and the probability of paternity exclusion (PE) were calculated. All loci were in accordance with Hardy–Weinberg equilibrium (P > 0.05). Our studied population data were compared with the previously published population data of other ethnic groups or areas in China. Our results of present study were valuable for human identification and paternity tests in Zhejiang Province.     

Comprehensive analyses for genetic diversities of 19 autosomal STRs in Chinese Kazak group and its phylogenetic relationships with other continental populations

Short tandem repeats (STRs) play an essential role in forensic genetics due to their high degree of polymorphisms, wide distributions and easy detection method. In this study, allelic frequencies and forensic statistical parameters of the 19 autosomal STR loci in a Kazak ethnic group were calculated, and its genetic relationships with reference populations were assessed in order to understand population structure better and enrich population genetic data for forensic practice in Chinese Kazak ethnic group. There were 226 identified alleles with the corresponding allelic frequencies ranging from 0.0008 to 0.5295 in the 628 unrelated healthy Kazak individuals in Xinjiang Uygur Autonomous Region. All autosomal STRs were conformed to the Hardy-Weinberg equilibrium after Bonferroni’s correction. The cumulative power of discrimination and the combined probability of exclusion of all the 19 autosomal STRs were 0.999 999 999 999 999 999 999 997 162 and 0.999 999 994 484, respectively. Furthermore, the D_A distances and Fixation index values of pairwise populations, principal component analysis, multidimensional scaling analysis, phylogenetic tree analysis and structure analysis were conducted to probe the genetic relationships between the Kazak group and other reference populations. The population genetic results showed that these 19 autosomal STR loci were characterised by high genetic diversities in the Kazak group. Furthermore, the studied Kazak group had close genetic relationships with the Uyghur group and the Uzbek group. The present results may facilitate understanding the genetic background of the Chinese Xinjiang Kazak group.     

Genetic analysis of the populations from Northern and Mesopotamian provinces of Argentina by means of 15 autosomal STRs

The allele frequencies for the 15 short tandem repeats included in the Power Plex-16 kit (Promega Corp., Madison, WI, USA) were determined in a sample of 429 unrelated individuals from five provinces of the Northern and Northeastern regions of Argentina. Three Northern provinces including Salta, Formosa and Chaco and two within the region surrounded by the Paraná and Uruguay Rivers commonly known as the Argentine Mesopotamia, including Misiones and Corrientes. Since in this region Entre Ríos Province is also present, previously published results were used for comparison. The calculated parameters: polymorphism information content (PIC); discrimination power (DP); matching probability (MP); typical paternity index (TPI) and power of exclusion (PE) showed Penta E to be the most valuable marker from the studied sample set. All loci met Hardy–Weinberg expectations using the Bonferroni correction for the number of loci analyzed, except D3S1358 in Salta and THO1 in Formosa provinces. Population differentiation test revealed that the Salta population sample data denoted significant differences for various loci when compared with the other province information presented here in, as well as with other published data sets.     

Haplotype analysis of 17 Y-STR loci in a Japanese population

We analyzed 17 Y-STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385a/b, DYS438, DYS439, DYS456, DYS458 and DYS464a/b/c/d) in 252 Japanese males using three multiplex PCR typing systems. Two variants were found at DYS385a/b. A total of 244 different haplotypes were observed, of which 239 were found in single individuals. The haplotype diversity for the 17 loci was 0.996.     

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。     

Y chromosome STR haplotypes of Tibetan Living Tibet Lassa

Allele frequencies and haplotypes of the 17 Y-chromosome STRs loci, namely DYS19, DYS385a/b, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 (YGATA C4), and YGATA H4 were determined in a sample of 131 healthy unrelated males from the Lassa area of Tibet Autonomy Region of China (SW China). In 131 samples 106 different haplotypes were encountered, of which 105 were observed only once. The overall haplotype diversity was 0.9998. The results demonstrate that these loci will be very useful for human identification in forensic cases and paternity tests in the Lassa region.     

Analysis of 15 autosomal STR loci in the population of the State of Acre,Brazilian Amazonia

Acre was the last state of Brazil to be inhabited by non-indigenous individuals. The aim of this study was to calculate the allele frequencies of 15 STR loci in 503 unrelated individuals living in Acre, as well as to estimate statistical parameters of forensic interest. The Hardy–Weinberg equilibrium test performed in the overall sample, as well as population comparisons between sub-samples from the five regions in Acre did not reveal the presence of population substructure. This is the first report of STR data in this population and the results showed that a single database is suitable for all the regions analyzed.     

Genetic polymorphism of 30 autosomal InDel loci in Chinese Hainan Li population

A novel genetic marker, Insertion/Deletion polymorphism (InDel) shows remarkable potential for forensic DNA applications. Hainan Island is the southernmost and the second largest island in China, of which the Li ethnic group is regarded as the original inhabitants. In this study, 207 individual samples of Li ethnic group from Hainan were genotyped using Investigator DIPplex kit which contains 30 autosomal InDels and Amelogenin. Allele frequency and forensic parameters were calculated for these loci. Several deviations from Hardy-Weinberg equilibrium (HWE) and linkage disequilibrium (LD) may indicate founder effect in the Li ethnic group. The combined power of discrimination (CPD) and the cumulative probability of exclusion (CPE) reached 0.99999999992912 and 0.9861, respectively. These results suggested that the kit was effective for personal identification in Hainan Li population. The population comparisons through the Nei’s standard genetic distance (R_st), phylogenetic tree, multidimensional scaling analysis (MDS), principal component analysis (PCA), and STRUCTURE analyses along continental divisions manifested that the 30 InDels panel had a certain intercontinental differentiation ability.     

Genetic polymorphisms of 20 STR loci in Chinese Han population in Tianjin,North China

The PowerPlex^® 21 System PCR Amplification Kit was a new PCR Amplification Kit developed for forensic laboratories, but there was a lack of data about this kit in Chinese people in Tianjin, North China. This kit contained 20 STR loci, D3S1358, D1S1656, D6S1043, D13S317, Penta E, D16S539, D18S51, D2S1338, CSF1PO, Penta D, TH01, vWA, D21S11, D7S820, D5S818, TPOX, D8S1179, D12S391, D19S433 and FGA. In order to evaluate this kit and to get basic population data for its use in forensic practice in Chinese Han population, 360 unrelated Chinese Han individuals from Tianjin were typed using the Kit. Allele frequencies of the 20 STR loci and further population forensic genetic parameters were obtained. The observed genotype frequencies and expected genotype frequencies were evaluated by χ² test. No significant deviation from the Hardy–Weinberg equilibrium was observed in the population sample for the 20 STR loci. The population data in the present study can be used for routine forensic practice in Tianjin, North China.     

中国28个省/区汉族人群41个STR基因座多态性数据分析

目的调查分析中国28个省/区汉族人群41个STR基因座的遗传多态性,为相关研究和鉴定提供全面科学的基础数据。方法收集28个省/区汉族9 126名无关个体血样本,采用Global FilerTM、AGCU EX-22和AGCU 21+13种试剂盒,进行41个STR基因座分型,统计各基因座等位基因分布和遗传学参数,并对各数据之间进行差异性检验。结果中国28个省/区汉族人群41个基因座分别检出8~76个等位基因,各基因型分布经正和检验,除SE33等7个基因座外,均符合Hardy-Weinberg平衡定律。遗传学参数分析显示,41个基因座中SE33等21个属高鉴别力、高杂合度、高信息量,其余20个属中等高度多态性基因座。部分省份等位基因频率分布数据之间有显著性差异(P0.05),各省与全国综合数据之间则无差异(P0.05)。结论本文调查结果证实41个STR基因座均具有较强的个体识别能力,获得的数据可为法医学应用和筛选适合中国汉族人群基因座等研究和实践提供科学的基础数据。