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1.
Int J Mol Sci ; 25(10)2024 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-38791155

RESUMO

DNA analysis plays a crucial role in forensic investigations, helping in criminal cases, missing persons inquiries, and archaeological research. This study focuses on the DNA concentration in different skeletal elements to improve human identification efforts. Ten cases of unidentified skeletal remains brought to the Institute of Forensic Medicine in Timisoara, Romania, underwent DNA analysis between 2019 and 2023. The results showed that teeth are the best source for DNA extraction as they contain the highest concentration of genetic material, at 3.68 ng/µL, compared to the petrous temporal bone (0.936 ng/µL) and femur bone (0.633 ng/µL). These findings highlight the significance of teeth in forensic contexts due to their abundant genetic material. Combining anthropological examination with DNA analysis enhances the understanding and precision of identifying human skeletal remains, thus advancing forensic science. Selecting specific skeletal elements, such as the cochlea or teeth, emerges as crucial for reliable genetic analyses, emphasizing the importance of careful consideration in forensic identification procedures. Our study concludes that automated DNA extraction protocols without liquid nitrogen represent a significant advancement in DNA extraction technology, providing a faster, more efficient, and less labor-intensive method for extracting high-quality DNA from damaged bone and tooth samples.


Assuntos
DNA , Dente , Humanos , Dente/química , DNA/isolamento & purificação , DNA/genética , Osso e Ossos/química , Restos Mortais/química , Genética Forense/métodos , Masculino , Romênia , Feminino
2.
Ann Hum Biol ; 51(1): 1-6, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38251837

RESUMO

BACKGROUND: At present, there are no available genetic data on the AGCU EX22 Kit from the Wuhu Han population. AIM: This study investigates the applicability of the AGCU EX22 kit, designed for the Chinese population for forensic analysis and population genetics of the Wuhu Han population. SUBJECTS AND METHODS: Bloodstains from 1565 unrelated healthy individuals in Wuhu city, Anhui Province, were collected for analysis. The AGCU EX22 kit was used for amplification, and capillary electrophoresis was used to separate the amplification products. Allele frequencies and forensic parameters were determined. The Wuhu Han population was compared to 10 reference populations through genetic distance, a phylogenetic neighbor-joining tree and principal component analysis. RESULTS: In total, 281 alleles and 1187 genotypes were observed. No significant deviations from Hardy-Weinberg equilibrium at any locus were found after Bonferroni's correction. The 21 autosomal short tandem repeat (STR) genetic markers exhibited high informativeness and polymorphism. The cumulative power of discrimination and power of exclusion were 0.999999999999999999999999913380 and 0.999999996752339, respectively. Population comparisons revealed a genetic affinity between Wuhu Han and southern Han populations, except for the Guangdong Han population, which aligned with the traditional geographical division in China. CONCLUSION: The AGCU EX22 Kit, containing 21 STR loci, is suitable for forensic application and population genetics studies in the Wuhu Han population.


Assuntos
População do Leste Asiático , Repetições de Microssatélites , Humanos , Alelos , China , População do Leste Asiático/genética , Genética Forense , Frequência do Gene , Genética Populacional , Voluntários Saudáveis , Filogenia , Sangue
3.
Mol Biol Rep ; 50(7): 6287-6291, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37219673

RESUMO

BACKGROUND: Argentinean population is the result of admixture between South Amerindians, Europeans and to a lesser degree, Africans. Since the advent of forensic molecular genetics, the construction of local reference databases became mandatory. Aiming to further extend the technical quality reference database of Argentina, we present herein the allele frequencies for 24 autosomal STRs, including D22S1045, and SE33 (not previously reported for Argentina in STRidER). CONCLUSIONS: Genotypes of 6454 unrelated individuals (3761 males and 2694 females) from 13 out of 23 provinces were analysed. Forensic parameters were calculated for each marker. The observed heterozygosity ranged from 0.661 (TPOX) to 0.941 (SE33). The locus SE33 was revealed to be the most informative marker showing the highest values for PIC (0.955), GD (0.952), TPI (8.455) and PE (0.879). On the other hand, TPOX turned out to be the least informative marker: PIC (0.618), GD (0.669), and PE (0.371). The high number of analyzed individuals allowed detecting low frequency alleles and microvariants in CSF1PO; D16S539 and D21S11 D18S51; PENTA D; PENTA E and at locus D6S1043. METHODS AND RESULTS: This study is the most extensive for Argentina and complements the already reported information concerning the autosomal STRs commonly used in forensic identification. The results were submitted passing STRidER quality control standards (QC), receiving the reference number STR000327 v.2.


Assuntos
Genética Populacional , Repetições de Microssatélites , Masculino , Humanos , Argentina , Repetições de Microssatélites/genética , Frequência do Gene/genética , Impressões Digitais de DNA/métodos
4.
Forensic Sci Int Genet ; 65: 102872, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-37068444

RESUMO

This is the first study that characterizes the sequence-based allelic variations of 22 autosomal Short Tandem Repeat (aSTR) loci in a population dataset collected from Lebanon. Genomic DNA extracts from 195 unrelated Lebanese individuals were amplified with PowerSeq 46GY System Prototype. Targeted amplicons were subjected to DNA library preparation and sequenced on the Verogen MiSeq FGx Sequencing System. Raw FASTQ data files were processed by STRait Razor v3. Sequence strings were annotated according to the considerations of the DNA Commission of the International Society for Forensic Genetics (ISFG) and tabulated herein with their respective allelic frequencies and GeneBank accession and version numbers. The sequenced Lebanese dataset resulted in 429 distinct allelic sequences as compared to the 236 alleles identified by length only. The increase in the number of alleles was observed at 18 out of 22 aSTR loci and was attributed to the sequence variations residing in both the STR repeat motifs and flanking regions. The study uncovered 25 novel aSTR allelic sequences across 12 loci for which GenBank records did not previously exist in the STRSeq BioProject, PRJNA380127. For a concordance check, the length-based allelic calls derived from the full sequences were compared to those genotyped using capillary electrophoresis (CE) methods. Population genetic parameters relevant to the evaluation of forensic DNA evidence were assessed for the sequence-based data and compared to the parameters generated from the length-based information. Using the sequence-based data, Analysis of MOlecular VAriance (AMOVA), genetic distances, and population genetic structure were evaluated for 1231 individuals sampled from the Lebanese and four U.S. populations (African American, Asian, Caucasian, and Hispanic). The results were tabulated and visualized in a population tree, multidimensional scaling scatter plots, and bar plots. This newly established sequence-based database for the Lebanese population can be beneficial for extending NGS applicability to casework or paternity testing and assessing the strength of evidence for NGS-STR profiles. The described novel sequence variants at certain loci can further help in the effort to characterize the sequence diversity of STR markers from different populations around the world.


Assuntos
Impressões Digitais de DNA , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Análise de Sequência de DNA/métodos , DNA/genética , Repetições de Microssatélites
5.
Biochem Genet ; 61(5): 1850-1866, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36869999

RESUMO

Autosomal short tandem repeat (STR) population data collected from a well characterized population are needed to correctly assigning the weight of DNA profiles in the courtroom and widely used for ancestral analyses. In this study, allele frequencies for the 15 autosomal short tandem repeat (STR) loci included in the AmpFlSTR® Identifiler® plus kit (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818, FGA) were obtained by genotyping 332 unrelated individuals of Ghanaian origin. Statistical tests on STR genotype data showed no significant departure from Hardy-Weinberg equilibrium (HWE). The overall match probability, combined power of exclusion and combined power of discrimination for these loci were 1 in 3.85 × 1017, 0.99999893 and 0.99999998, respectively. Polymorphic information content (PIC) greater than 0.70 was observed for all loci except TH01 and D13S317. These statistical parameters confirm that this combination of loci is valuable for forensic identification and parentage analysis. Our results were also compared with those for 20 other human populations analyzed for the same set of markers. We observed that the Ghanaian population grouped with other African populations in two-dimensional principal coordinate (PCO) and a neighbor-joining (N-J) data mapping and placed closest to Nigerians. This observation reflects cultural similarities and geographical factors, coupled with the long history of migration and trading activities between Ghana and Nigeria. Our report provides what we believe to be the first published autosomal STR data for the general Ghanaian population using 15 loci genotyped using the AmpFlSTR® Identifiler® plus kit methodology. Our data show that the loci tested have sufficient power to be used reliably for DNA profiling in forensic casework and help to elucidate the genetic history of people living in the country.


Assuntos
Genética Populacional , Repetições de Microssatélites , Humanos , Gana , Reação em Cadeia da Polimerase , Frequência do Gene , Impressões Digitais de DNA
6.
Mol Genet Genomic Med ; 11(6): e2156, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36852474

RESUMO

BACKGROUND: The Souss, located in southern Morocco, is one of the oldest areas of human settlement in North Africa. Despite this historical relevance, the Souss has not received sufficient attention in terms of population genetic studies. METHODS: In this study, we utilized the AmpFlSTR Identifiler PCR amplification system to establish the allelic frequencies and statistical parameters of 15 autosomal STRs (Short Tandem Repeats) in 150 healthy unrelated Berber-speaking individuals from the Souss. We explored the genetic relationships between Souss and other reference populations based on our dataset as well as previously published population data. RESULTS: A total of 210 alleles were detected with corresponding allele frequencies ranging from 0.003 to 0.367. The most polymorphic locus was D18S51 with 23 alleles which was also the most discriminating locus as expected. The phylogenetic analysis clustered the Souss closer to the Azrou and southern Moroccan populations. The population comparison showed affinity between the Souss and most North African populations, as well as with Middle Easterners and Europeans. CONCLUSION: Historical events and geographical proximity have contributed to the affinity between the Souss and surrounding North African, Southern European, and Middle Eastern populations. Overall, this study highlights the reliability of the 15 STRs for identifying individuals and assessing paternity in the Souss population.


Assuntos
Genética Populacional , Humanos , Marrocos , Filogenia , Reprodutibilidade dos Testes , Frequência do Gene
7.
Ann Hum Biol ; 49(5-6): 254-259, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35815629

RESUMO

BACKGROUND: Short tandem repeats (STRs) are consecutive repetition of a repeat motif and widely used in forensic medicine and human genetics because of their high polymorphism. SUBJECTS AND METHODS: In the current study, 23 autosomal STR loci were genotyped from 1263 unrelated healthy individuals living in Panjin City, Liaoning Province, Northeastern China using the VeriFilerTM Express PCR Amplification Kit. The population comparison was performed between the Panjin Han population and the other relevant groups to further explore the structure of Panjin Han and its relationship with the other groups. RESULTS: The results found 316 alleles across the 23 STRs and the corresponding allelic frequencies ranged from 0.5198 to 0.0004. Except for D3S1358, TPOX, TH01, and D3S1358, all STR loci were highly polymorphic (PIC > 0.7), with the Penta E locus having the highest degree of polymorphism (0.9147). For population comparison, the exact test of population differentiation found that no significant difference was observed between the Panjin Han and the other Han populations, except for Guangdong Han and Jiangxi Han. CONCLUSION: The Panjin Han population showed significant differences with the other ethnic groups in China (Bouyei, Dong, Hui, Miao, Tibetan, and Uygur) and the foreign ethnic groups.


Assuntos
Genética Populacional , Polimorfismo Genético , Humanos , Frequência do Gene , Medicina Legal , China , Repetições de Microssatélites/genética
8.
Leg Med (Tokyo) ; 57: 102072, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35461037

RESUMO

Settled in Vietnam, the Ede ethnic group exhibits unique heritages that belong to the Austronesian-speaking groups. In this study, we genotyped 23 autosomal short tandem repeat (STR) markers in 397 unrelated samples from the Ede population and recorded the first data of allele frequencies and forensic parameters for the Ede. Data analysis revealed high values of the combined discrimination power (0.999 999 999 999 999 999 999 999 950) and the exclusion power (0.999 999 999 999 998). Within the Ede population, D12S391 was indicated to be an informative autosomal STR marker for individual identification and paternity testing. A phylogenetic tree of the Ede and nine other Austronesian groups, spanning from Africa to Asia and Oceania, asserted a close relationship among these groups, especially among the Ede, Malaysian Malay, and Indonesian populations.


Assuntos
Etnicidade , Frequência do Gene , Genética Populacional , Etnicidade/genética , Humanos , Repetições de Microssatélites/genética , Filogenia , Vietnã
9.
Gene ; 823: 146357, 2022 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-35189246

RESUMO

This study examines Y-chromosome and mtDNA markers in the population of the island of Kiritimati in the context of geographically targeted reference populations from the Pacific. Kiritimati derives its population from the atoll islands of the Gilbert Archipelago and representsa geographicaltransitional region between Micronesia, Polynesia and Melanesia that likely played a critical role during theAustronesian expansion. The large presence(84.1%)of individuals withO-M175, O2a-M324 and O2a2b-P164 sub-haplogroups, 69.9% being O2a2b-P164, the Y-STR homogeneity within O2a2b-P164 and the very recent age of the sub-haplogroup(363-548 years ago)inKiritimati suggestthe arrival ofa genetically homogenous population to the Gilberteses followed by a population expassion.The close Y-STR haplotype affinities with profiles from the Samoa and Tonga Archipelagos point to an unprecedented massive post-Austronesian expansionexodus from West Polynesia.Contrasting the abundance of AustronesianO2a2b-P164 sub-haplogroup, the most abundantMelanesian/Papuansub-haplogroup,C-M130is present at a frequency of 13.5%. Thenetwork topology suggests that C-M130 arrived to theKiribati Archipelago from West Polynesia, specifically from West Samoa, Tonga and/or Tutuila subsequent to the Austronesian expansion about 832-1408 years ago. The haplotype affinities withinO2a2b-P164 argue for anoriginal source in Taiwan and its dispersal to West Polynesia and then to Southeast Micronesia. The present investigation provides an understanding of the genetic composition and complex migration history of an understudied region of the Pacific and provides evidence for recent dispersals towards Micronesia from West Polynesia subsequent to the initial Austronesian expansion.


Assuntos
Cromossomos Humanos Y/genética , DNA Mitocondrial/genética , Genética Populacional/métodos , Haplótipos , Migração Humana , Humanos , Micronésia/etnologia , Filogenia , Polinésia/etnologia , Análise de Sequência de DNA
10.
Ann Hum Biol ; 49(1): 80-86, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35038931

RESUMO

Aim: This study was designed to investigate the genetic polymorphisms and forensic parameters of the 20 autosomal short tandem repeat (STR) loci included in the PowerPlex® 21 System (Promega, USA) in the Henan Han population with a view to expand the genetic information available for this population in human genome databases.Subjects and methods: We evaluated the genetic polymorphisms from 20 autosomal STR loci using DNA typing based on 2995 individuals from the Henan Han population in Central China and then used this information to investigate the genetic relationships between this population and 10 other Han populations across China. These comparisons included genetic distance, phylogenetic trees, and principal component analysis (PCA).Results: We identified a total of 290 alleles and 1343 genotypes within the Henan Han population, with none of these loci deviating from their Hardy-Weinberg equilibrium (HWE). The population comparisons revealed that geographically close populations demonstrated closer genetic relationships. Thus, the Henan Han population was shown to be close to both the Beijing Han and Tianjin Han populations, creating a single cluster. In addition, these 20 STR loci exhibited a high degree of genetic polymorphisms, making them suitable for individual identification and parentage testing.Conclusions: The results of this study will enrich the forensic databases of Chinese Han populations and serve as a resource for further studies in these populations.


Assuntos
Etnicidade , Genética Populacional , China , Etnicidade/genética , Frequência do Gene , Loci Gênicos , Humanos , Repetições de Microssatélites/genética , Filogenia
11.
Yi Chuan ; 43(10): 949-961, 2021 Oct 20.
Artigo em Inglês | MEDLINE | ID: mdl-34702707

RESUMO

Short tandem repeat (STR) markers have been widely used in forensic paternity testing and individual identification, but the STR mutation might impact on the forensic result interpretation. Importantly, the STR mutation rate was underestimated due to ignoring the "hidden" mutation phenomenon in most similar studies. Considering this, we use Slooten and Ricciardi's restricted mutation model based on big data to obtain more accurate mutation rates for each marker. In this paper, the mutations of 20 autosomal STRs loci (D3S1358, D1S1656, D13S317, Penta E, D16S539, D18S51, D2S1338, CSF1PO, Penta D, TH01, vWA, D21S11, D6S1043, D7S820, D5S818, TPOX, D8S1179, D12S391, D19S433, and FGA; The restricted model does not include the correction factor of D6S1043, this paper calculates remaining 19 STR loci mutation rates) were investigated in 28,313 (Total: 78,739 individuals) confirmed parentage-testing cases in Chinese Han population. As a result, total 1665 mutations were found in all loci, including 1614 one-steps, 34 two-steps, 8 three-steps, and 9 nonintegral mutations. The loci-specific average mutation rates ranged from 0.00007700 (TPOX) to 0.00459050 (FGA) in trio's and 0.00000000 (TPOX) to 0.00344850 (FGA) in duo's. We analyzed the relationship between mutation rates of the apparent and actual, the trio's and duo's, the paternal and maternal, respectively. The results demonstrated that the actual mutation rates are more than the apparent mostly, and the values of µ1"/µ2"(apparent) are also greater than µ1/µ2 (actual) commonly (µ1", µ1; µ2", µ2 are the mutation rates of one-step and two-step). Therefore, the "hidden" mutations are identified. In addition, the mutations rates of trio's and duo's, the paternal and maternal, exhibit significant difference. Next, those mutation data are used to do a comparison with the studies of other Han populations in China, which present the temporal and regional disparities. Due to the large sample size, some rare mutation events, such as monozygotic (MZ) mutation and "fake four-step mutation", are also reported in this study. In conclusion, the estimation values of actual mutations are obtained based on big data, they can not only provide basic data for the Chinese forensic DNA and population genetics databases, but also have important significance for the development of forensic individual identification, paternity testing and genetics research.


Assuntos
Big Data , Repetições de Microssatélites , Frequência do Gene , Genética Populacional , Humanos , Repetições de Microssatélites/genética , Mutação , Taxa de Mutação
12.
Forensic Sci Int Synerg ; 3: 100131, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33532721

RESUMO

Bone samples are utilized as a source of DNA in disaster victim identification and human remains investigations. However, DNA recovery from bones is time consuming and prone to contamination. A logical approach for postmortem identification is to validate efficient DNA extraction methods requiring less bone material using improved molecular kits with less hands-on time and workflows that facilitate faster turn-around time for processing. In this study, we evaluated DNA yield and amplification efficiency of DNA extracts using a new custom bone demineralization buffer (DMB; Promega) and extracted via manual and automated DNA IQ™ workflows. Including the demineralization step, the bone protocol can be completed in ∼4 h and even less with minimal sample handling when automated. Overall, a rapid and simple DNA extraction with improved allele recovery was validated using degraded bone samples exposed to tropical environments and post-disaster recovery as well as adverse conditions of embalming prior to internment.

13.
Int J Legal Med ; 135(5): 1753-1765, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33559001

RESUMO

In order to determine the population allele frequencies of autosomal STR markers of forensic interest in the Zimbabwean population, we analyzed a sample of 478 individuals from 19 different ethnic groups using the PowerPlex® Fusion 6C Kit (Promega Corp, Madison, Wisconsin). The data obtained were compared among the different Zimbabwean ethnic groups as well as with several African populations to establish whether significant differences exist among them. No significant differences were found among the ethnic groups in Zimbabwe. Statistically significant differences were observed between allele frequencies in Zimbabwe and some other African populations, although FST with neighboring Bantu populations from South and Southeast regions were low (below 0.005 in most single locus comparisons).


Assuntos
População Negra/genética , Etnicidade/genética , Frequência do Gene , Repetições de Microssatélites , Análise de Sequência de DNA , Feminino , Genética Populacional , Humanos , Masculino , Zimbábue/etnologia
14.
Int J Legal Med ; 135(2): 455-456, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33409559

RESUMO

Population genetic analysis is of vital importance for personal identification and paternity testing in forensic science. However, the forensic characteristics of autosomal short tandem repeat (STR) loci in the Sierra Leone population have not been reported yet to the best of our knowledge. In this study, 528 unrelated individuals (256 males and 272 females) in Sierra Leone, West Africa, were genotyped using the DNA Typer19™ kit; forensic parameters and genetic relationships with 32 populations around the world were analyzed. A total of 239 alleles were detected, with corresponding allele frequencies ranged from 0.0009 to 0.4545. The cumulative power of discrimination (CPD) value of the 18 STR loci was 0.9999999999999999999999697; the cumulative probability of exclusion for duos (CPE duos) and exclusion for trios (CPE trios) were 0.99999343 and 0.9999999895, respectively. Genetic comparisons showed that the Sierra Leone population has a closer genetic relationship with the Bantu-speaking populations in Sub-Saharan Africa.


Assuntos
População Negra/genética , Loci Gênicos , Genética Populacional , Genótipo , Repetições de Microssatélites , Alelos , Feminino , Frequência do Gene , Humanos , Masculino , Serra Leoa
15.
Ann Hum Biol ; 48(1): 66-69, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33256486

RESUMO

Nowadays, kinship testing is very common in forensic caseworks, but the power of autosomal short tandem repeats (A-STRs) may be limited in complex cases. X-Chromosome short tandem repeats (X-STRs), having a unique heritage mode, should be of special use in some deficient cases. To evaluate and compare the potential of A-STR and X-STR as supplement genetic markers in deficient kinship testing, we simulated 10,000 duos for each of 18 kinds of relationships involving full sibling, half-sibling, grandparent-grandchild, and uncle/aunt-nephew/niece. Loci from STRTyper10, PowerPlex 16, and Investigator Argus X-12 were studied in Southern Han Chinese and the distribution of likelihood ratio (LR) values was analysed. With the addition of the X-12 system, the distribution of LR values for the full sisters, paternal half-sisters, paternal grandmother-granddaughters, maternal aunt-nieces, and maternal aunt-nephews separated much more obviously from those of unrelated duos, and the effectiveness was 1.0000, 0.99865, 0.9991, 0.8996 and 0.9634, respectively, which was more efficient than A-STRs. For the individual duos with other relationships, the effects of adding X-STRs and A-STRs were similar. Therefore, for the Southern Han Chinese, X-STRs can be very useful in kinship testing involving full sisters, paternal half-sisters, paternal grandmother-granddaughters, and maternal aunt-nieces/nephews.


Assuntos
Cromossomos/genética , Testes Genéticos/instrumentação , Repetições de Microssatélites/genética , Cromossomos Humanos X/genética , Humanos
16.
Mol Genet Genomic Med ; 8(10): e1462, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32862500

RESUMO

BACKGROUND: Hainan Island, located in the South China Sea and separated from the Leizhou Peninsula by Qiongzhou Strait, is the second largest island after Taiwan in China. With the expansion of Han Chinese and the gradual formation of "South Hlai and North Han", nowadays, Hainan Hlai is the second largest population after Han Chinese in Hainan Island. Ha Hlai, distributed in southwest and southern Hainan Island, is the dominant branch of Hlai and speaks Ha localism. METHODS: We utilized the Huaxia™ Platinum PCR Amplification System (including 23 autosomal STRs and 2 sex-linked markers) to obtain the first STR profiling batch of 657 Ha Hlai individuals (497 males and 160 females). In order to explore the genetic relationships between the studied Ha Hlai and other reference populations with different language families, population genetic analyses, including PCA, MDS, STRUCTURE, and phylogenetic analysis, were conducted based upon the raw data and allelic frequencies of the polymorphic autosomal STR markers. RESULTS: In total, 271 distinct alleles were observed at the 23 STR loci. The number of diverse alleles ranged from 7 at TPOX locus to 23 at FGA locus, and the allelic frequencies varied from 0.0008 to 0.5533. In addition, the CPE and CPD were 1-7.39 × 10-10 and 1-3.13 × 10-28 , respectively. The phylogenetic analyses indicated that Ha Hlai is a Tai-Kadai language-speaking and relatively isolated population which has a close genetic and geographical relationship with Hainan Hlai, and M95 is the dominant haplogroup in Ha Hlai (56.18%). CONCLUSION: The 23 autosomal STR genetic markers were highly polymorphic as well as potentially useful for forensic applications in Hainan Ha Hlai population. The phylogenetic analyses demonstrated that small geographic scale gene flows could not be ignored and the shaping of the unique gene pool for each population was the combination effects of geographic, language, and cultural isolations.


Assuntos
Povo Asiático/genética , Repetições de Microssatélites , Filogenia , Polimorfismo Genético , Cromossomos/genética , Genética Forense/métodos , Frequência do Gene , Haplótipos , Humanos , Isolamento Reprodutivo
17.
Data Brief ; 31: 105909, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32642519

RESUMO

This data article provides population frequencies for 21 autosomal and two sex determining short tandem repeat (STR) loci in unrelated Kedayan individuals. This article is related to the research paper entitled "Forensic parameters and ancestral fraction in the Kedayan population inferred using 21 autosomal STR loci" [1] where these same data were subjected to ancestry and forensic analyses. We have collected 200 blood samples consisting of 128 male and 72 female volunteer representatives from Kedayan people residing in various parts of Borneo. All 23 STR loci were simultaneously amplified using Globalfiler™ Express PCR and amplicons were separated using an ABI 3500xl Genetic Analyzer. The STR allele calls at each locus were called using GeneMapperⓇ ID-X Software v1.4, while several algorithms in Arlequin software version 3.5 were used to estimate Hardy-Weinberg equilibrium (HWE) and linkage disequilibrium (LD) between pairs of STR loci.

18.
Electrophoresis ; 41(18-19): 1600-1605, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32725901

RESUMO

DNA analysis of degraded samples and low-copy number DNA derived from skeletal remains, one of the most challenging forensic tasks, is common in disaster victim identification and genetic analysis of historical materials. Massively parallel sequencing (MPS) is a useful technique for STR analysis that enables the sequencing of smaller amplicons compared with conventional capillary electrophoresis (CE), which is valuable for the analysis of degraded DNA. In this study, 92 samples of human skeletal remains (70+ years postmortem) were tested using an in-house MPS-STR system designed for the analysis of degraded DNA. Multiple intrinsic factors of DNA from skeletal remains that affect STR typing were assessed. The recovery of STR alleles was influenced more by DNA input amount for amplification rather than DNA degradation, which may be attributed from the high quantity and quality of libraries prepared for MPS run. In addition, the higher success rate of STR typing was achieved using the MPS-STR system compared with a commercial CE-STR system by providing smaller sized fragments for amplification. The results can provide constructive information for the analysis of degraded sample, and this MPS-STR system will contribute in forensic application with regard to skeletal remain sample investigation.


Assuntos
DNA/genética , Genética Forense/métodos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Repetições de Microssatélites/genética , Restos Mortais/química , DNA/análise , DNA/isolamento & purificação , Humanos , Reação em Cadeia da Polimerase Multiplex , Análise de Sequência de DNA
19.
Leg Med (Tokyo) ; 46: 101726, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32526672

RESUMO

China harbors 56 ethnic groups and Han is the largest population. It is informative and useful to explore the available population genetic characteristics of Chinese Han population from Fujian Province, Southeast China. In our study, we explored the genetic characteristics of 20 autosomal Short tandem repeat (STR) loci in 1555 unrelated Chinese Han individuals from Zhangzhou City, Southeastern China using the SureID® 21G Human STR Identification Kit. Moreover, phylogenetic analysis was performed between the Zhangzhou Han population and other relevant populations based on the shared autosomal STR genotyping. The neighbor-joining tree and multidimensional scaling analysis were analyzed based on the Nei's standard genetic distance. We found 262 alleles among 1555 unrelated individuals and the corresponding allele frequencies ranged from 0.5521 to 0.0003. The combined power of discrimination and exclusion of the 20 autosomal STR loci were 0.99999999999999999999999943 and 0.999999996166537, respectively. Population comparison revealed that the Zhangzhou Han population were lining up together with the southern Han populations in China while showed significant differences from other China populations. Our results found that the 20 autosomal STR loci in Zhangzhou Han population are meaningful for forensic medicine and human genetic. The genetics characteristic of Zhangzhou Han population is similar with the southern Han population in China.


Assuntos
Povo Asiático/genética , Medicina Legal , Loci Gênicos/genética , Genética Populacional/métodos , Repetições de Microssatélites/genética , China , Humanos , Polimorfismo Genético
20.
Ann Hum Biol ; 47(1): 70-75, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31984802

RESUMO

Aim: Genetic diversity and forensic efficacy of 20 autosomal STR genetic markers were investigated in a highly diverse population of Rajasthan, a state in north-western India.Subjects and methods: In this study, 317 blood samples from unrelated healthy individuals were directly amplified using the PowerPlex® 21 multiplex system (Promega). Amplified products were separated by capillary electrophoresis using a Genetic Analyser -3500 XL (Thermo Fisher Scientific). The data thus obtained was statistically analysed using population genetic software.Results: The studied population showed genetic affinity with the geographically close populations. The locus Penta-E was found to be the most polymorphic with a value of 0.90 in the studied population. The combined discrimination power (CPD) and combined power of exclusion (CPE) were observed as >0.999999999 and 0.999999997, respectively, for all the studied 20 autosomal STR loci. The combined probability of match (CPm) was 1.39 × 10-25 and combined paternity index (CPI) was 3.66 × 108 for all the studied loci.Conclusion: The results conclusively support the hypothesis that the studied autosomal STR loci are polymorphic in nature and, besides being useful in forensic applications they can also be applied in anthropological and other population genetic studies. This study supports the 'isolation-by-distance' model. Genetic data obtained from this study will enrich the population data bank.


Assuntos
Cromossomos Humanos/genética , Repetições de Microssatélites/genética , Polimorfismo Genético , Marcadores Genéticos , Genética Populacional , Genômica , Humanos , Índia
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