Autosomal Short Tandem Repeat Loci Research Articles

Genetic polymorphism of 20 autosomal short tandem repeats (STRs) in Himachal Pradesh population, India.

Genetic diversity indices and forensic parameters at 20 autosomal short tandem repeat (STR) loci were evaluated in 233 unrelated individuals of Himachal Pradesh, India. In total, 255 alleles were observed with an average of 11.25 ± 0.88 alleles per locus. None of the loci deviated from Hardy Weinberg Equilibrium. The most polymorphic and discriminative locus was Penta E. The combined power of exclusion and the combined power of discrimination were found to be 0.99 and 1. Additionally, the genetic relationship of the Himachal Pradesh population with the populations of the neighboring state was also investigated. All the STR loci were found polymorphic, and the select panel of STRs was found suitable for population genetic studies and forensic analysis.

Study of autosomal short tandem repeat loci using ITO method in full-sibling identification

Study of autosomal short tandem repeat loci using ITO method in full-sibling identification

Investigation of the forensic GlobalFiler loci in the genetically isolated Circassian subpopulation in Jordan

Circassians are a Caucasian ethnic group who make up a significant minority in Jordan. Although other ethnic groups have been the subject of forensic genetic analysis, no published study has investigated the forensic genetic efficiency of short tandem repeats (STRs) in Circassians, neither in Jordan nor in any other country. The main objective of the current study is to determine the allelic frequencies and evaluate the forensic efficiency parameters of 21 highly polymorphic autosomal STR loci among the Circassian subpopulation in Jordan. The GlobalFiler loci were amplified using DNA extracted from the whole blood samples of 150 Jordanian Circassians. The SE33 locus was found to be the most informative and polymorphic STR marker while TPOX was the least informative. However, allele 8 of TPOX was the most common across all of the investigated 21 loci in Jordanian Circassians. The combined matching probability (CMP) and combined power of discrimination (CPD) were 5.02E-24 and 0.9999999, respectively.

A study of skeletal remains using GlobalFiler™

DNA analysis from human remains is of immense relevance in missing persons identification and disaster victim identification (DVI). DNA degrades gradually in hard tissues, such as bones and teeth and remains somewhat safe from the effects of high temperature, humidity, pH, geochemical properties of the soil, and microorganisms. . The GlobalFiler™ kit simultaneously amplifies and detects 21 autosomal loci including CODIS extended set of STR loci. The kits was designed to combine all 21 autosomal STR loci along with a novel male specific Y insertion/deletion marker the sex-determining marker, amelogenin. Thus, GlobalFiler™ combines the CODIS extended set of loci and includes seven autosomal STR loci from the expanded European Standard Set of Loci (ESSL). The kit also includes the highly discriminating SE33 locus. The aim of this study was to profile the old skeletal remains using GlobalFiler™ for use in disaster victim identification that were previously profiled using Identifiler Plus kit using 3500 (CE). This study investigated the success rate of short tandem repeat (STR) typing from different types of bone samples and observed a higher STR success rate using GlobalFiler™ PCR kit, which contains more than 10 loci under 220 bp size. Thus, GlobalFiler™ could potentially be a good choice for the limited amounts of degraded DNA obtained from challenging skeletalsamples. The performance of the GlobalFiler™ kit and the profile quality was examined for the degraded bone samples to determine the robustness of genetic profiling.

Allele frequencies of 20 autosomal STR loci for 207 unrelated individuals of the Blang people in China.

The Blang is a minority living in the mountainous areas of Xishuangbanna Dai Autonomous Prefecture, and they also scatter in the neighboring cities of Lincang and Simao. This population is investigated in this study through PowerPlex® 21 System. The frequency distribution of allele, forensic, and population parameters of 20 autosomal short tandem repeat loci were evaluated based on 207 non-related individuals from Blang minority; meanwhile, the genetic relationships between Blang and 11 related populations were also assessed.

Application of CPI cutoff value based on parentage testing of duos and trios typed by four autosomal kits.

In this study, we analyzed the application of four autosomal kits and the sensitivity of the combined paternity index (CPI) cutoff value (CPI≥10000) in parentage testing. First, 1442 real trios and 803 real duos were tested using the Goldeneye 25A kit. The Goldeneye 25A kit covers the autosomal short tandem repeat (STR) loci of the other three kits, so we calculated the CPI value of every case for the four kits. Second, three complex close relative kinship cases were also analyzed to evaluate the application of the CPI cutoff value. The CPI values of all trio cases were higher than 10000 using the four kits; the CPI values of all duo cases were higher than 10000 using the Goldeneye 25A kit; and the CPI values of a portion of the duo cases were lower than 10000 using the other three kits. In the three complex close relative cases, the alleged father or mother was not excluded using 40 autosomal STRs. Adding X chromosome short tandem repeats (X-STR) and samples of biological fathers or mothers, the conclusions were confirmed. The four kits were adequate to draw conclusions in the trio cases; the Goldeneye 25A Kit was adequate to draw conclusions in the duo cases; and the other three kits were not sufficient for a portion of the duo cases. The CPI cutoff value was sensitive for real trio and duo cases. In complex close relative kinship cases, high CPI values may result in false conclusions.

Evaluation of genetic polymorphism at 20 autosomal STR loci in Rajput population of Himachal Pradesh, India.

In the present study, genetic diversity indices and forensic parameters of Rajput population of Himachal Pradesh, India, were obtained at 20 autosomal short tandem repeat (STR) loci included in the PowerPlex® 21 System (Promega, USA). With 227 alleles and 11.35 ± 0.89 alleles per locus, none of the locus deviated from the Hardy-Weinberg equilibrium (HWE). The most polymorphic and discriminative locus was Penta E. Phylogenetic tree showed high genetic affinity of Rajput population of Himachal Pradesh with Rajputs of Madhya Pradesh and Yadav of Bihar. Overall, the tested 20 autosomal STRs were polymorphic in Rajput population and found suitable in forensic casework and population genetic studies.

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.

Phylogenetic relationship and genetic history of Central Asian Kazakhs inferred from Y-chromosome and autosomal variations.

The Xinjiang Uyghur Autonomous Region of China (XUARC) with 47 ethnic groups is a very colorful ethnic region of China, harboring abundant genetic and cultural diversity. The Kazakhs are the third largest ethnic group (7.02%) after Uyghur (46.42%) and Han (38.99%) in Xinjiang, but their genetic diversity and forensic characterization are poorly understood. In the current study, we genotyped 15 autosomal short tandem repeat (STR) loci and ten Y-STRs in 889 individuals (659 male and 230 female) collected from Kazak population of the Ili Kazak Autonomous Prefecture using AGCU Expressmarker 16 and 10Y-STR Kit (EX16 + 10Y). For autosomal STRs, we observed a total of 174 different alleles ranging from 6 to 34.2 repeat units and FGA showed the greatest power of discrimination (20 alleles) in Ili Kazakh population. We have not observed departures from Hardy-Weinberg equilibrium (HWE) after sequential Bonferroni correction and only found a minimal departure from linkage equilibrium (LE) for a very small number of pairwise combinations of loci. The combined power of exclusion (CPE) was 0.99999998395 and combined power of discrimination (CPD) was 99.999999999999999798%. For Y-STRs, we observed a total of 496 different haplotypes in these ten Y-STR loci. The gene diversities ranged from 0.5023 (DYS391) to 0.8357 (DYS385a/b). The overall haplotype diversity (GD) was 0.9985 with random matching probability (RMP) of 0.0015. The results of population genetic analysis based on both autosomal and Y-chromosome STRs demonstrated that the genetic affinity among populations is generally consistent with ethnic, linguistic, and continental geographical classifications.

Genetic characterization of 12 STRs (Investigator® HDplex kit) in the Ecuadorian population

Allele frequencies, and genetic data for 12 autosomal Short Tandem Repeat (STRs) loci (D2S1360, D3S1744, D4S2366, D5S2500, D6S474, D7S1517, D8S1132, D10S2325, D12S391, D18S51, D21S2055, and SE33 [ACTBP2]) using the Investigator® HDplex kit (QIAGEN) were obtained from 200 non-related individuals from the Ecuadorian mestizo population. Subjects included 100 men and 100 women, from the 24 provinces of Ecuador. Heterozygosity (Ho), power of discrimination (PD), power of exclusion (PE) and polymorphism information content (PIC) were estimated for the population sample. Locus SE33 had the highest values for power of discrimination (0.9372), polymorphism information content (0.9338), and power of exclusion (0.7852). The most informative STRs for the Ecuadorian population were SE33, D7S1517, D10S2325 and the least informative were D2S1360, D3S1744 and D6S474. The Investigator® HDplex makers have shown to be highly informative in the Ecuadorian population and are suitable as a powerful complementary tool in forensic analysis and complex kinship cases.

Is it reliable to use paraffin embedded tumor tissues as biological evidence in parentage cases?

Short tandem repeats (STR) are reliable markers used for forensic identification and paternity testing. In some cases, histological paraffin blocks containing malignant cells can be used for STR typing in identification and paternity. DNA profiling and result interpretation with these samples often becomes a challenging job. The malignant tissues may show preferential amplification, loss of heterozygosity, and microsatellite instability.Due to the suspected paternity case, two paraffin blocks were sent for DNA analysis by Court of Justice. Pathology report of the paraffin blocks have shown that they contain lung cancer tissues taken with bronchoscopy. After extracting DNA with silica based method from the samples taken from different parts of these two blocks, 21 autosomal STR loci and 17 gonosomal STR loci were studied.When we have compared the STR profiles of son and his alleged father, Y-chromosomal STR loci matched fully. But for 2 of the 21 autosomal STR loci were found mismatches in father-son comparing. These two mismatched loci have been homozygous in alleged father. Moreover, 10 of 21 autosomal loci have shown homozygosity, and at one locus D16S539 has three alleles. While increased homozygosity in FFPE sample of alleged father has increased the paternity index, mismatched loci have lessened it in our model with mutations but without dropout.These results suggest that great care and proper statistical model should be taken in the evaluation of the DNA typing results obtained from clinical cancerous specimens, in particular when no other reference samples containing normal tissue are available.

GENETICS OF SEVERE MENTAL ILLNESS IN A COLOMBIAN POPULATION ISOLATE

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.

Slippage mutation rates in 15 autosomal short tandem repeat loci for forensic purposes in a Southeastern Brazilian population.

Well-defined estimates of mutation rates in highly polymorphic tetranucleotide STR loci are a prerequisite for human identification in genetics laboratory routines useful for civil and criminal investigations. Studying 15 autosomal STR loci of forensic interest (CSF1PO, D2S1338, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11, FGA, TH01, TPOX, and vWA), we detected 193 slippage mutations (189 one-step and four two-step mutations) in 148875 parent-child allelic transfers from 5171 paternity cases with true biological relationship (15096 individuals; 4754 trios and 417 duos; 9925 meiosis) from the state of São Paulo, a very representative population of Brazil. The overall mutation rate was 1.3×10-3 and the highest rates were observed at loci vWA (2.8×10-3 ), FGA and D18S51 (2.7×10-3 for both), while loci TH01 and TPOX did not present any mutations. The mean slippage mutation rate of paternal origin (1.8×10-3 ) was six times higher than that observed for maternal origin (0.3×10-3 ).

Assessing the forensic efficiency of the GlobalFiler STR loci among the genetically isolated Chechen subpopulation in Jordan

Short tandem repeats (STRs) are a widely utilized tool in forensic applications, the latter of which range from human identification and paternity testing to population analysis. The GlobalFiler STR loci, which includes 21 autosomal STRS, were analyzed in the Chechen subpopulation of Jordan. Whole blood samples were withdrawn from 159 Jordanian Chechen individuals, and genomic DNA was extracted from each sample. The GlobalFiler™ kit PCR Amplification Kit amplified and analyzed the STR loci on the 3130xl Genetic Analyzer using GeneMapper ID-X software. The combined match probability for the 21 autosomal STR loci was calculated to be 1.06 × 10−24, a number that is highly discriminatory and informative. The SE33 (0.983) and TPOX (0.806) loci exhibited the highest and lowest powers of discrimination, respectively. Conclusively, the current study indicates that the GlobalFiler loci have a high utility in the Jordanian Chechen population, possibly paving the way for the future establishment of a reference population database in Jordan.

Genetic polymorphisms of 20 autosomal STR loci in the Han population of Putian City, Southeastern China

Background: Short tandem repeats (STRs) are genetic markers that are more informative than single nucleotide polymorphisms and they are widely used in forensic DNA analysis.Aim: To carry out the genetic analysis of 20 autosomal STR loci in Han individuals of Putian City, Southeast China, to expand the available population information for human genetic databases and forensic analysis.Subjects and methods: Saliva swabs from 1417 unrelated Chinese Han individuals from Putian City of Southeast China were collected and then genotyped using the SureID® 21G Human STR Identification Kit. Moreover, phylogenetic analysis based on the Nei’s standard genetic distance was performed between the Han population and other relevant populations based on the shared autosomal STR genotyping.Results: We found 272 alleles among 1417 unrelated individuals and the corresponding allelic frequencies ranged from 0.5409 to 0.0004. The combined power of exclusion (CPE) was 0.999999995514, and the combined power of discrimination (CPD) was 0.9999999999999999999999994061. Population comparison revealed that the Putian Han population makes a cluster with other Han populations from China while showing significant differences when compared with other worldwide populations.Conclusions: Our results found that the SureID® 21G Human STR Identification Kit panel was appropriate for forensic identity testing and paternity testing. Putian Han population had a closer genetic relationship with Han populations from other regions in China, while other minorities like Uighurs and Kazakhs from China showed significant differences.

An assessment of preserved DNA in decomposed biological materials by using forensic DNA profiling

BackgroundDNA profiling for the victim identification in several forensic situations is mostly challenging due to a high degree of degradation or due to a high level of intermingling of remains. There are many intrinsic and extrinsic factors involved in the postmortem decay of tissues. Forensic DNA analysts come across a variety of samples ranging from stain samples to visceral material to bone or teeth. The amount and quality of DNA recovery are highly variable/challenging in dealing such forensic evidence.Material and methodsIn the present study, two different types of postmortem tissues (brain and prostate/uterus) along with teeth of 20 naturally decomposed human bodies were analysed. DNA extraction has been performed using the phenol-chloroform extraction method. Further, the extracted samples have been subjected for quantitative analysis using RT-PCR. Samples were amplified using the PowerPlex® 21(PP 21) multiplex system and were genotyped using capillary electrophoresis in 3500XL Genetic Analyzer.ResultsA perfect short tandem repeat (STR) profile has been generated from all the teeth samples. In most of the cases, brain tissue samples also provided an optimal profile. In contrast, prostate tissue samples gave partial amplification at almost all the samples. These findings were further evaluated by DNA profile quality measures for the studied samples.ConclusionThe present study may provide a platform to effectively evaluate forensic samples that contain small or degraded DNA template. The multiplex autosomal STR loci PP 21 system used in the study is efficient enough for typing such degraded samples with high sensitivity and discrimination power.

Massively parallel sequence data of 31 autosomal STR loci from 496 Spanish individuals revealed concordance with CE-STR technology and enhanced discrimination power

This study reports Short Tandem Repeat (STR) sequence-based allele data from 496 Spanish individuals across 31 autosomal STR (auSTR) loci included in the Precision ID GlobalFiler™ NGS STR Panel v2: D12S391, D13S317, D8S1179, D21S11, D3S1358, D5S818, D1S1656, D2S1338, vWA, D2S441, D5S2800, D7S820, D16S539, D6S474, D12ATA63, D4S2408, D6S1043, D19S433, D14S1434, CSF1PO, D10S1248, D18S51, D1S1677, D22S1045, D2S1776, D3S4529, FGA, Penta D, Penta E, TH01 and TPOX. The sequence of each allele was aligned to the reference sequence GRCh37 (hg19) and formatted according to the guidance of the International Society for Forensic Genetics. A subset of 221 samples was evaluated for testing concordance with allele calls derived from CE-based analysis using PowerPlex Fusion 6C, and there was 99.95% allele concordance. Twenty-five out of 31 auSTR loci showed an increased number of alleles due to repeat region sequence variation and/or single nucleotide polymorphisms (SNP) residing in the flanking regions. A total of 18 loci showed increased observed heterozygosity due to sequence variation; the loci exhibiting the greatest increase were: D13S317 (12% points), D5S818 (10% points), D8S1179 (7% points), D3S1358 (7% points), and D21S11 (6% points). The combined match probability decreased from 2.022E-24 (length-based data) to 1.042E-27 (sequence-based data) for the 20 CODIS core STR loci. The combined match probability (sequence-based data) for the 31 STR loci studied was 4.777E-40. The combined typical paternity index increased from 1.118E + 12 to 8.179E + 13 using length and sequence-based data, respectively. This Spanish population study performed in the framework of the EU-funded DNASEQEX project is expected to provide STR sequence-based allele frequencies for forensic casework and support implementation of massively parallel sequencing (MPS) technology in forensic laboratories.

Multiple genetic analyses to investigate the polymorphisms of Chinese Mongolian population with an efficient short tandem repeat panel

AimTo determine allele frequencies and forensic statistics of 22 autosomal short tandem repeat loci in Chinese Mongolian population.MethodsBlood specimens were collected from 134 unrelated healthy Mongolian individuals, and 22 short tandem repeat loci were co-amplified and genotyped. Allele frequencies and forensic parameters were calculated, and population genetic differences were analyzed among Mongolian population and other eight Chinese populations: Northern Han, Guangdong Han, Chengdu Han, Xinjiang Hui, Xinjiang Uygur, Hainan Li, Qinghai Tibetan, and Hainan Han.ResultsAll the loci were in the Hardy-Weinberg equilibrium, and after Bonferroni correction there was no linkage disequilibrium between them. The allele frequencies of these 22 loci were between 0.0037 and 0.3657. This panel had high discriminating power and genetic polymorphism in the Mongolian population, with combined power of discrimination of 0.999999999999999999999999998399 and combined probability of exclusion of 0.9999999999566925. Structure analysis showed no evidence that these nine Chinese populations had different component distribution. However, genetic distance analysis showed significant differences among them (P < 0.05).ConclusionThe combined application of these 22 loci could be useful for forensic purposes in the Mongolian population. Mongolian population had smaller genetic distances from the populations in northern China (Northern Han, Xinjiang Uygur, and Xinjiang Hui) than from the populations in Hainan province (Hainan Han and Hainan Li populations).

Analysis of genetic polymorphisms of 21 autosomal short tandem repeat loci among Han Chinese from Quanzhou

To analyze genetic polymorphisms of 21 autosomal short tandem repeat (STR) loci from Quanzhou Han Chinese groups using a GlobalFiler kit, and to assess its value for forensic practice. For 402 unrelated Han individuals, allelic frequencies of 21 autosomal STR loci were determined by using the GlobalFiler kit. Genetic parameters of the 21 STR loci were calculated. No deviation from Hardy-Weinberg equilibrium was observed for the 21 loci. Most of the loci were highly polymorphic. Observed heterozygosity has ranged from 0.637 to 0.945, power of discrimination has ranged from 0.801 to 0.991, polymorphism information content has ranged from 0.570 to 0.940, power of exclusion was between 0.337 to 0.888, and match probability was between 0.009 to 0.199. GlobalFiler kit has a high value for personal identification and paternity testing for Han Chinese from Quanzhou.

Population genetic polymorphism and mutation analysis of 19 autosomal STR loci in Jiangsu Han individuals in Eastern China

Aim: Genetic polymorphisms and the mutation ratio of 19 autosomal short tandem repeat (STR) loci were analysed in 10,000 individuals and 7755 families from Jiangsu Province in Eastern China.Subjects and methods: Nineteen STR loci were amplified by a multiplex amplification system and genotyped on the ABI 3130 Genetic Analyser. Allele frequencies, forensic parameters and mutations for the 19 autosomal STR loci were statistically analysed.Results: In total, 344 genotypes were discovered. No significant deviation from Hardy-Weinberg equilibrium was observed. The combined power of discrimination reached 0.9999999999999999984341, and the combined probability of paternity exclusion was 0.999999989. The pairwise genetic distance and p-values between the Jiangsu and 17 published populations depended on the FST value calculation and are shown by the neighbour-joining evolutionary tree. No statistically significant differences were found, except for the Xinjiang Altay Han (p = 0.01802) population. The average mutation rate of the Jiangsu population across all 19 loci was 1.4 × 10−3. The average mutation rate of the 13 core CODIS STR loci remained below 2 × 10−3 and there was no difference and relatively high consistency (p < 0.001) by correlation coefficient analysis among the six groups.Conclusions: Allelic genetic polymorphisms and mutation data were obtained from a large number of samples, which indicated that the amplification kit is suitable for forensic application and that the Jiangsu population has its own genetic characteristics that are different from those of other ethnic populations.