D1S80 Locus Research Articles

DNA quality and quantity in adipose tissue: a comparison of the effects of bomb explosion

BACKGROUND Adipose tissue is often overlooked in DNA testing due to misconceptions about its DNA content. However, its shock-absorbing qualities may be useful for high-pressure scenarios like bomb blasts. This study aimed to evaluate DNA quality and quantity in adipose tissue affected by blasts compared to that in unaffected tissue.
 METHODS 10 adipose tissue samples were taken from regions near and far from the blast, representing the blast-exposed and non-blast-exposed groups. The adipose tissue was stored at a low temperature for 5 days, after which an organic extraction method was applied. The purity of the DNA extract was assessed using a NanoDrop spectrophotometer, and its integrity was evaluated using 0.8% concentration gel electrophoresis at 60 V for 90 min. DNA typing was conducted using the GlobalFiler™ kit, and DNA quantity was determined with the Quantifiler™ Trio DNA Quantification kit.
 RESULTS Of 20 DNA extracts from adipose tissue, all samples demonstrated purity, integrity, and complete typing results. Adequate integrity was found in 90% of samples in both groups. A 50% incidence of allele shifting was observed at the D7S820 locus within the blast-exposed group.
 CONCLUSIONS DNA from blast-exposed adipose tissue exhibited no significant quality or quantity differences from non-blast-exposed tissue. This suggested adipose tissue’s potential as an alternative DNA source in a bomb explosion.

A rare case of type II tri-allelic inheritance at vWA, SE33, D8S1179, and D13S317 loci demonstrated by STR analysis in paternity testing.

Short tandem repeat (STR) typing has been regularly used in paternity disputes and forensic human identification linked caseworks. Occasionally, forensic scientists come across aberrant allele patterns during STR typing because of mutations, genetic variations, and other abnormalities. The tri-allelic pattern of STR is rare, particularly, the case where this pattern exists at 4 loci. Here, we report the type II tri-allelic patterns observed at vWA, SE33, D8S1179, and D13S317 loci in the product of conception (POC) sample during the course of our regular paternity case investigation. The DNA extracted from the blood samples and tissue of POC were subjected to STR typing for autosomal and sex STR loci using the commercial QIAGEN's Investigator® IDplex Plus Kit and QIAGEN's Investigator® 24plex QS Kit. Capillary electrophoresis was carried out in 3500 and 3500xL Genetic Analyzer Applied Biosystems and genotyped using GeneMapper ID-X Software v1.5 and v1.6. In this case of paternity inclusion, the POC sample displayed type II tri-allelic patterns at vWA (16, 19, 20), SE33 (19, 28.2, 29.2), D13S317 (16, 19, 20), and D8S1179 (10, 13, 17) loci. In addition, the POC displayed an abnormal genotype with a heterozygous peak imbalance (type II-B) of (1:2) pattern at D3S1358, D21S11, and D16S539 loci, of (2:1) pattern at D1S1656, D12S391, D10S1248, D2S1338, D2S441, D18S317, FGA, CSF1PO, and D5S818 loci, and type II-C allelic pattern (one single peak with triplicate height) at D19S433 and DS7820 loci. Understanding of such anomalous genotypes improves the knowledge about tri-allelic pattern of CODIS loci and helps in the appropriate interpretation of the results in STR typing.

RNA-based short tandem repeat analysis on the D18S51 locus.

DNA typing based on short tandem repeat (STR) analysis is an effective forensic method for human identification. Some STRs are contained within the introns of protein-coding genes and are transcribed as pre-mRNAs. However, the possibility of using RNA for STR analysis is yet to be fully explored. Considering that RNA in forensic samples is relatively stable, especially under dry- and low-temperature conditions, we hypothesized that STR information could be obtained from RNA. Here, we investigated the possibility of conducting RNA-based STR analysis using the D18S51 locus as a model.

The distribution of allele frequencies of the 15 Short Tandem Repeats loci in Elaziğ population, Türkiye

The DNA within the Human Genome involves loci with high polymorphism such as short tandem repeats (STR). The STR polymorphism analysis is extensively used for numerous purposes such as identification studies in forensic sciences, paternity tests, genome mapping, and population studies. In this study, blood and swab samples were obtained from 200 unrelated healthy individuals living in Elazig province. DNA was amplified via the AmpFlSTR Identifiler PCR Amplification Kit (Applied Biosystems, USA) to analyze the 15 STR loci. Using the ABI PRISM310 Genetic Analyzer capillary electrophoresis, the samples were analyzed and the allelic ladder was used to compare and identify the alleles of the samples, the distribution of the allele frequencies and peak values were examined. For statistical analysis Arlequin v.3.11 and PowerStats v.1.2 were used to assess the data. To determine if the allele frequencies were compatible with the Hardy-Weinberg (HW) equilibrium, the Markov chain and the Fisher's exact test p-value (p<0.05) were examined. It was determined that the D8S1179 (0.00002), D21S11 (0.00593) and vWA (0.04939) loci were not compatible with the HW equilibrium, but the rest of the loci were compatible. For the loci, the combined power of exclusion is 0.9999995, the combined power of discrimination is 0.9999999999998. The probability of matching for the 15 STR loci was calculated to be 1 in 1.364x10ˉ17. The power of discrimination was quite high when all the loci were considered. The results of this study indicate that the populations residing in the Elaziğ province may benefit from paternity testing, forensic identification, and genomic mapping using the data as an appropriate marker.

Desain Mini Primer STR Lokus TH01 dan D21S11 untuk Amplifikasi DNA Darah Terpapar Suhu Tinggi

DNA identification has an important role in forensics to investigate a case. However, the problem that is often encountered is that the DNA found is difficult to analyze because the amount is relatively small and degraded. An alternative used in DNA examination is to design mini primers for amplification. Mini primers can produce DNA profiles even in samples that have very low quantity and quality. Therefore, this study aims to determine the effectiveness of mini primers for amplification of TH01 and D21S11 loci in DNA exposed to high temperatures. In addition, to determine the effect of high temperature exposure on DNA quality and quantity. The samples used were 3 ml of human blood treated with 100, 150, and 200ºC for 10, 20, and 30 minutes. The method used was PCR amplification using mini primers TH01 and D21S11 loci. Quantity data were analyzed by a parametric test using the Two Way Anova method. Meanwhile, DNA quality was tested by agarose gel electrophoresis. The results showed that temperature treatment affected the quantity and quality of DNA. The TH01 locus in DNA samples treated with high temperature can be amplified using primer pairs MP1FTH01 and MP1RTH01. At the D21S11 locus, the use of primers 1 and 2 can be combined to identify DNA samples with high temperature treatment

Allelic frequencies of 22 short tandem repeats loci and tri-allelic patterns of Penta D and TPOX identified in Gabonese population

Short tandem repeats (STRs) are repeating DNA sequences used in forensic human identity testing and the diagnosis of aneuploidies. Many STRs like Penta D and TPOX are used routinely for paternity tests, but these tests are not widely used in sub-Saharan Africa. In this study we recruited individuals from Gabonese families seeking a paternity test. After DNA extraction from buccal swabs, we genotyped samples using a panel of 22 STRs. A total of 115 unrelated subjects from 39 families were included. Allele frequencies of the 22 STR loci were determined in unrelated Gabonese subjects. The most polymorphic loci were D21S11 (16 alleles) and FGA (17 alleles), while D3S1358 and TH01 loci were less polymorphic, with five alleles each. Deviation from Hardy–Weinberg equilibrium was observed for TPOX, D3S1358, CSFPO and D7S820 loci. We reported tri-allelic patterns that indicate aneuploidies at a combined frequency of 4% (4/115) with 3% for Penta D (1/35) and 3% for TPOX (3/102). Furthermore, we identified a new tri-allelic genotype 5-8-16 for the Penta D locus located on chromosome 21 in a healthy subject. In addition, we observed three tri-allelic variants of TPOX, located on chromosome 2, in healthy subjects, namely 8-10-11, 8-9-10, and 8-8-10. Our study revealed unsuspected polymorphic variations in Penta D and TPOX for the first time in Gabon, raising several questions about chromosomal disorders. Further population genetics studies are needed in Gabon to better characterize these variations, both qualitatively and quantitative.

Pinpointing the Short-tandem Repeats Alleles for Ethnic Inferencing in Forensic Identification by K-medoids Approach

Abstract Background: The role of DNA analysis for ethnicity inferencing is a topic that attracts much interest from researchers in forensic identification, especially for identifying unknown bodies and trace evidence. So far, the approaches considered effective for ethnic inferencing are autosomal single-nucleotide polymorphisms, Y-chromosome short-tandem repeats (STRs), and mitochondrial DNA haplotyping, which successfully demonstrates the association of specific nucleotides or patterns with population groups. Ethnic inferencing based on autosomal STRs is complex due to the nature of recombination in gamete formation. Aim: This study attempts to use clustering analysis to associate alleles and loci of autosomal STRs with population groups. Materials and Methods: We examined the allele frequency data from 19 STRs loci from the Malay Indonesian population (n = 470) to compare with other populations, namely, Chinese Indonesian (n = 133) and four reference populations (Malay Malaysian, Filipino, Chinese, and Caucasian). K-Medoids clustering analysis was carried out to pinpoint alleles and loci affecting the population clustering process. Results: The first stage of clustering results placed Malay Indonesians and four other Asian populations, namely, Chinese Indonesian, Malay Malaysian, Filipino, and Chinese, in Cluster 1, whereas the Caucasian group was in Cluster 2. It indicates that the CSF1PO, D5S818, and D8S1179 loci significantly distinguished the five Asian population groups from the Caucasian group, whereas D2S441, D8S1179, and D22S1045 were the three loci that significantly influenced the separation between Malay Indonesians and other groups. Conclusions: We conclude that K-medoids clustering analysis has the potential to play a role in ethnicity estimation by pinpointing specific STRs alleles.

Paternity testing using 21 STR Loci in a biotechnology approach: case of Rwandan Population

INTRODUCTION: We focused on a sample size of 141 unrelated Rwandan persons to genotype21 STR loci that were relied up in establishing allele frequencies, heterozygosity and power ofexclusion. This study aims at exploring allele frequencies on a representative sample from Rwandanpopulation to determine probability of paternity for sampled families basing on polymorphic STRsloci, using 21 autosomal-STR loci by Genetic Analyzer 3500X.METHODS: This was an experimental study and global filer TM Express PCR Amplification kit wasused to amplify 21 autosomal STR loci.RESULTS: The total number of observed alleles was 270; the largest number of different alleleswas seen in SE33 and D18S51 loci. The locus with the highest heterozygosity was SE33, while locusTH01 had the lowest heterozygosity. The heterozygosity of the 21 STR loci ranged from 71.3%(TH01) to 91.6% (SE33) with an average of 81.1% a good indicator of high genetic variability. Forall microsatellites analyzed the power of exclusion ranged from 43.4% (TH01) to 78.1% (SE33)with an average of 58.2%. For seven of eight cases examined in paternity test alleged father wasnot excluded as biological father of child. The results found in examination of case 8 indicated thatthe alleged father was not the biological father of the child.CONCLUSION: Based on calculated statistical parameters, the population of Rwanda may usethese 21 STR loci as a vital tool for forensic identification and paternity testing.

Verification of a loss of heterozygosity at the D8S1179 locus in a paternity case by the MiSeq FGx system.

Capillary electrophoresis is widely used to study short tandem repeats (STRs) in forensic genetics. However, next-generation sequencing platforms have become a new strategy for forensic DNA typing. In this study, we report a false four-step STR mutation between an alleged father (AF) and child in a paternity case. A total of 23 autosomal STR loci were evaluated using the Huaxia™ Platinum and Goldeneye™ 20A kits, revealing a single mismatch in D8S1179 between the AF (10/10) and the male child (14/14). Additional Y-STR typing of the AF and child was performed, and the results were consistent with those based on 27 Y-STR loci. To further confirm the experimental results, we sequenced the individuals using the MiSeq FGx system and detected 10/15 unbalanced alleles in the D8S1179 locus of the AF and 14/15 unbalanced alleles in the D8S1179 locus of the child. Sanger sequencing revealed that both the AF and child had the C→G point mutation in the primer binding region of D8S1179 resulting in allelic dropout. Therefore, the verification of STR typing by different sequencing systems is helpful for the interpretation of results in cases of multistep STR mutations.

Analysis of VNTRs (variable number tandem repeat) D1S80 in Biology students class

DNA can be obtained from all parts of the body with the same profile in each person. The oral mucosal epithelium is one of the DNA sources that is often used for individual identification because of taking it using a swab method that does not hurt the volunteers. The purpose of this study was to determine DNA polymorphism in Biology students of Class of 2022. The sample used in this study were 49 people with details, 34 female and 15 male students. After cheek mucosa was sampling, the PCR and electrophoresis was performed to see the DNA bands formed. The visible band was measured in length and calculated using a formula to see the repeatability of the D1S80 locus on the DNA band. From the 49 samples which were collected, the DNA bands were seen in 27 samples with DNA band lengths ranging from 400-600 bp. The number of bands in each sample were also different. The highest frequency of locus repetitions was 26 repetitions and the lowest was 14 repetitions.

Analysis of five rare alleles at the STR loci D1S1656, D12S391, D13S317, Penta D, and D2S441.

Short tandem repeat (STR) automatic typing technology is extensively used in forensic laboratories with commercial kits, in rare cases genotyping misinterpretations or mislabeling may occur due to unexpected rare alleles. This study refers to the investigation of several rare alleles observed from routine cases. Besides cross-kit verification with Goldeneye 25A (Beijing PeopleSpot Inc, China) and Huaxia platinum (Thermo Fisher Scientific, USA) kits, the next-generation sequencing technology by MiSeq FGx System (Illumina, USA) was applied to further validation. To solve the inconsistent outcomes reached by the above mentioned approaches at D2S441 locus, single gene amplification, gene cloning, and genetic sequencing was also performed. As a result, five rare alleles were detected. Two novel alleles of allele 3 at the D13S317 locus and allele 5 at the D2S441 locus were found; three previously reported alleles of allele 9 at D1S1656 locus, allele 19 at Penta D locus, and allele 28 at D12S391 locus in STRBase were initially supplemented with sequence information. We, therefore, propose that such uncommon observations with rare events should be carefully investigated and interpreted.

DNA Polymorphism of 13 Autosomal Short Tandem Repeats (STR) Loci in Mentawai Populations.

<b>Background and Objective:</b> Indonesia consists of various ethnic groups with diverse cultures. However, research on allele frequencies and genetic variations of each ethnic group in Indonesia has not been well established. Therefore, a study was conducted on 13 STR loci panels to analyze the mentawai population as an enhancement of the Indonesian population's genetic data library and genetic variation. Mentawai is one of the Indonesian tribes who live on Mentawai Island, West Sumatera. <b>Materials and Methods:</b> The PrepFiler kit to extract DNA from blood and the GlobalFiler kit for amplifying the 13 loci were used. The genetic analyzer ABI PRISM 3500 was used to detect PCR products. Data were processed and analyzed by EasyDNA and FORSTAT software. <b>Results:</b> The allele frequency data for 13 autosomal loci in Mentawai populations were obtained. Expected heterozygosity was found with a minimum of 0.607 for TPOX and a maximum of 0.866 for FGA. Power of discrimination (PD) values ranges from TPOX (0.792) to FGA (0.968). Polymorphic information content (PIC) values for all loci were high, ranging from 0.642 for TPOX to 0.921 for vWA. Three off-ladder alleles in these findings were detected. Allele 6.3 at the TH01 loci and allele 14.2 at the D18S51 loci are exquisite. The mean expected heterozygosity and mean power of discrimination value across the 13 loci were 75.9 and 90.1%, indicating striking gene diversity. <b>Conclusion:</b> These 13 STR loci can be used for population genetic studies and forensic identification.

Genetic research to evaluate plus stutter on D18S51 locus

The PCR amplification of STR loci typically produces a minor byproduct called minus stutter (or plus stutter) that is one repeat unit shorter (or one repeat unit longer) than the original product. These stutters cause some problems that affect the result of STR typing and complicate when comparing results of STR typing. It is necessary to remove the stutter in the forensic STR typing. Minus stutter is filtered out automatically by setting of the analysis software. On the other hand, plus stutter at most loci in STR Kits does not have such setting and it is in particular difficult to distinguish between the original peak and stutter peak.

Large fragment Sanger sequencing identifies the newly encountered variant that caused null alleles in parentage testing.

Short tandem repeat (STR) is regarded as a crucial tool for personal identification as well as parentage testing. Thus, genotyping errors of STRs could have negative effects on the reliability of forensic identification. A null allele at the combined DNA index system (CODIS) core loci D2S1338 was found in a father-daughter pair with the AGCU Expressmarker 22 kit which was a commonly used commercial kit during our daily laboratory work. This null allele caused the father and daughter to not conform to the laws of inheritance, thus potentially generating erroneous conclusions that excluded parentage. To figure out the reason for this phenomenon, re-amplification with new primers and then large fragment Sanger sequencing was conducted. We found a G to G/T variation at the position which is fifty-nine bases away from the 3' end of the core repeat in both samples. This probably could be considered a novel variant at the primer binding region which had not been reported that resulted in the emergence of the null allele. We also found that there was more than one single-nucleotide polymorphism (SNP) with minor allele frequency (MAF) greater than 0.1 in the upstream and downstream sequences of D2S1338. When designing primers for amplification of D2S1338, the possible adverse results of these SNPs should be taken into account and avoided.

Null allele can bring to interpretative problems in a deficitary paternity case

An STR null allele is an allele at a microsatellite locus that fails to amplify. A possible cause is poor primer annealing due to nucleotide sequence divergence in the flanking primers. In this study, a woman (ZAM) wanted to know whether a man (PGAF) was the father of her child (ZGC). During the court settlement, PGAF died. PGAF’s parents refused to undergo DNA investigation and denied the access to biological fragments from their dead son. Although, DNA specimens were obtained from buccal swabs of ZAM, ZGC and PGAF’s paternal sister (PTFS). Initially, only autosomal profiles were studied, and kinship assignment was inconclusive. Following our requests, PGAF’s parents (PRGF and LLGM) led us to obtain their DNA specimens. Only with the PTFS genetic profile, we were not able to demonstrate a kinship assignment. PTFS showed a homozygosis at D8S1179 locus. Then, merely comparing PTFS, LLGM and ZGC autosomal genetic profiles it was possible to underline that they were three different homozygous at D8S1179 locus. Hence, comparing the peak heights in different loci and according to literature, they had to carry a null allele at this locus. Parental studies were completed by Y haplotype analysis.

Cell-free fetal DNA as a non-invasive method using pyrosequencing in detecting beta-globin gene mutation: A pilot study from area with limited facilities in Indonesia.

BackgroundThalassemia is a monogenic, autosomal recessive, inherited disorder of the red blood cells caused by mutations or deletions in the globin gene. Approximately 6–10% of the Indonesian population carries the β-globin gene mutation; however, premarital screening is rarely conducted, and antenatal screening is optional. We explored the use of cell-free fetal DNA (cffDNA) as a potential non-invasive method of detecting the fetal β-globin gene mutation prenatally in pregnant women.Materials and methodsPregnant mothers (n = 10), who were known carriers of thalassemia and who had a history of having borne a baby with thalassemia major, and their carrier husbands (n = 4) were recruited after providing consent. EDTA blood was drawn, and maternal DNA, including cffDNA, and paternal DNA were isolated. Maternal contamination tests were conducted using the variable number tandem repeat test for ApoB and D1S80 loci. Allele quantification was performed by pyrosequencing. Known mutations from the bio-archived DNA of patients with thalassemia major (n = 16) were run alongside as a control.ResultsIn total, 7 out of 10 cffDNA successfully passed the maternal contamination test. The results of the allele quantification showed that six fetuses were predictive carriers of IVS1nt5 and one was predictive normal, in line with the allele quantification for the bio-archived DNA from patients with thalassemia major. The minimum threshold percentage for mutant A allele at cd26 was 32%, mutant T allele at IVS1nt1 was 23%, and mutant C allele at IVS1nt5 was 39%.ConclusionTaking cffDNA from the mother’s blood proved useful as a non-invasive means of detecting the β-globin gene mutation using pyrosequencing allele quantification. This non-invasive method is of great interest for prenatal diagnosis in settings with limited facilities, as it minimizes the risk of abortion. Further study of other mutations of the β-globin gene is needed.

The association of 20 short tandem repeat loci of autosomal chromosome with male schizophrenia.

IntroductionSchizophrenia's heritability and familial transmission have been known for several decades. The male‐specific Y chromosome plays an important role in schizophrenia. Short tandem repeats (STRs)have been recognized as risk genes in the development of schizophrenia. Here, we investigated the association between male schizophrenia and Y‐chromosomal STRs loci.MethodsWe recruited 355 patients with schizophrenia and 473 healthy males for physical examination and amplified them with a PowerPlex 21 System fluorescence‐labeled composite amplification System. Then, the resultant products were separated by electrophoresis and further detected. Finally, differences in allele and genotype frequency distributions of STR loci were observed.ResultsOur results showed that all 20 STR loci were in accordance with Hardy–Weinberg's law (p > .05). There were statistically significant differences in alleles of D13S317 and D5S818 loci and genotype frequency distribution between the two groups (alleles: p = .039, p = .022, respectively; genotype: p = .0004, p = .011, respectively). However, there was no difference in the other autosomal 18 STR loci between the two groups (p > .05). Univariate analysis showed that the frequency distribution differences of allele 11 and genotype 10‐11 at the D13S317 locus between the two groups were significant (compared to the controls, p = 0.005, odds ratio (OR) = 1.37, 95%b confidence interval (CI) = 1.10–1.71, compared to the controls, p = .0000002, OR = 3.92, 95% CI = 2.27–6.77, respectively). The frequency distribution differences of allele 7 and genotype 7‐10 at D5S818 between the two groups were significant (compared to the controls, p = .0006, OR = 3.42, 95% CI = 1.63–7.16, compared to the controls, p = .0011, OR = 8.24, 95% CI = 1.83–37.05, respectively).ConclusionPolymorphisms of the D13S317 and D5S818 loci may be predisposing factors for schizophrenia.

Genetic Analysis of TPOX, CSF1PO, D3S1358, D8S1179, vWA, D5S818, and TH01 Short Tandem Repeats Loci in Nias Population, Indonesia

BACKGROUND: Nias is an island located off the western coast of Sumatra, Indonesia. Nias is situated above the Eurasian and Indo-Australian subduction zone plates. This makes it prone to earthquakes and tsunamis. Genetic analysis and genetic variation of short tandem repeats (STR) locus are not widely known. These data are valuable for individual identification and paternity testing. METHODS: Seven STR loci (TPOX, CSF1PO, D3S1358, D8S1179, vWA, D5S818, and TH01) were analyzed using 25 healthy and unrelated persons Nias population. Allele frequency, power of discrimination (PD), expected heterozygosity, and probability of exclusion (PE) were calculated. RESULTS: We found 40 alleles. The allele with highest frequency was alleles 9 at the TH01 loci. While the lowest frequency were allele 9 at the CSF1PO loci, allele 12 at the TPOX loci, alleles 17 and 18 at the D8S1179 loci, and alleles 16 and 20 at the vWA loci. The highest Expected Heterozygosity, PD, and PE at the D8S1179 loci. The highest number of alleles is also at D8S1179 loci. All loci followed the Hardy–Weinberg equilibrium (p > 0.05). The PD values for all tested loci ranged from 80.6 to 94.5%. CONCLUSION: We report the allele frequencies and forensic statistical parameters of seven STR loci (TPOX, CSF1PO, D3S1358, D8S1179, vWA, D5S818, and TH01) in the Nias population, which can be used as a forensic database reference for Nias populations.

Utility of Circulating Cell-Free DNA in Assessing Microsatellite Instability and Loss of Heterozygosity in Breast Cancer Using Human Identification Approach.

The diagnostic and prognostic utility of circulating cell-free DNA (cfDNA) in breast cancer (BC) patients was recently reported. Here, we investigated the use of cfDNA to examine microsatellite instability (MSI) and loss of heterozygosity (LOH) for early BC diagnosis. cfDNA and genomic DNA from 41 female BC patients and 40 healthy controls were quantified using NanoDrop spectrophotometry and real-time PCR. The stability of genomic and cfDNA was assessed using a high-resolution AmpFlSTR MiniFiler human identification kit. Significant increases in cfDNA plasma concentrations were observed in BC patients compared to controls. The genotype distribution of the eight autosomal short tandem repeat (STR) loci D7S820, D13S317, D21S11, D2S1338, D18S51, D16S539, FGA, and CSF1PO were in Hardy–Weinberg equilibrium. Significant differences in the allele frequencies of D7S820 allele-8, D21S11 allele-29, allele-30.2, allele-32.2, and CSF1PO allele-11 were seen between BC patients and controls. LOH and MSI were detected in 36.6% of the cfDNA of patients compared to genomic DNA. This study highlights the utility of plasma-derived cfDNA for earlier, less invasive, and cost-effective cancer diagnosis and molecular stratification. It also highlights the potential value of cfDNA in molecular profiling and biomarkers discovery in precision and forensic medicine.

Use of Investigator 24plex GO! To analyse allele frequencies of 21 autosomal STRs in the population of Veracruz state, Mexico

Background Mexican population databases for autosomal STRs are scarce, and no previous studies have been performed with the Qiagen Investigator 24plex GO! Aim To analyse the frequency of 21 autosomal short tandem repeat (STR) loci and forensic parameters in individuals from Veracruz state, Mexico. Subjects and methods A total of 234 unrelated individuals were analysed with the Investigator 24plex GO! Kit, which includes the following autosomal STRs: TH01, D3S1358, vWA, D21S11, TPOX, D1S1656, D12S391, SE33, D10S1248, D22S1045, D19S433, D8S133879, D2S1338, D2S441, D18S51, FGA, D16S539, CSF1PO, D13S317, D5S818, and D7S820. Allele frequencies, forensic parameters, and relationships with neighbouring Mexican populations were estimated. Results The STRs analysed were in Hardy-Weinberg Equilibrium (HWE). The combined matching probability and combined PE were 1.5266 E-24 and 0.999999988711, respectively. The D18S51 and SE33 loci presented the highest Ho (0.8974 and 0.8932) and PE (0.7902 and 0.7815), respectively. The highest PIC (0.9337) and PD (0.9894) values corresponded to SE33. Conversely, D22S1045 had the lowest PIC and PE (0.5533 and 0.3546, respectively). A population cluster among southern Mexican populations, which included non-differentiation between Guerrero and Veracruz states was detected. Conclusion The forensic efficacy of the 21 STRs analysed by the Investigator 24plex GO! Kit was evaluated in the Veracruz state. Moreover, new population clusters that have not yet been described and are related to geographic regions were identified, and these are in agreement with previously reported ancestral differences.