Power Of Discrimination Values Research Articles

Molecular characterization of Turkish hazelnut cultivars and genotypes using SSR markers

This study defines the genetic characterization of 16 hazelnut varieties and 64 genotypes. SSR method was used in molecular characterization studies. 18 SSR primers were used. In the SSR method, 118 bands were obtained, and 115 were polymorphic. The similarity coefficient in overall genotypes were between 0.12 and 0.98 in SSR andthe polymorphism rate of the primer pairs used was calculated as 98.0%. The lowest polymorphism information content value (0.542) was obtained from the CAC- C 028 locus, and the highest polymorphism information content value (0.987) was obtained from the CAC- B 113 locus. The average polymorphism information content value was 0.786. The total discrimination power values of SSR loci were determined as 17.98; the lowest (0.748) discrimination power value was obtained from the CAC- B 020 locus, while the highest (1.404) discrimination power value was obtained from the CAC- A 024 b locus. The genotypes’clustering positions across the dendograms were essentially correlated with their geographic origins. This result shows that genetic origin plays an important role in terms of classification of genotypes in hazelnut.

A proof-of-principle study: The potential application of MiniHap biomarkers in ancestry inference based on the QNome nanopore sequencing

Haplotyped SNPs convey forensic-related information, and microhaplotypes (MHs), as the most representative of this kind of marker, have proved the potential value for human forensics. In recent years, nanopore sequencing technology has developed rapidly, with its outstanding ability to sequence long continuous DNA fragments and obtain phase information, making the detection of longer haplotype marker possible. In this proof-of-principle study, we proposed a new type of forensic marker, MiniHap, based on five or more SNPs within a molecular distance less than 800 bp, and investigated the haplotype data of 56 selected MiniHaps in five Chinese populations using the QNome nanopore sequencing. The sequencing performance, allele (haplotype) frequencies, forensic parameters, effective number of alleles (Ae), and informativeness (In) were subsequently calculated. In addition, we performed principal component analysis (PCA), phylogenetic tree, and structure analysis to investigate the population genetic relationships and ancestry components among the five investigated populations and 26 worldwide populations. MiniHap-04 exhibited remarkable forensic efficacy, with 148 haplotypes reported and the Ae was 66.9268. In addition, the power of discrimination (PD) was 0.9934, the probability of exclusion (PE) was 0.9898, and the In value was 0.7893. Of the 56 loci, 85.71% had PD values above 0.85, 66.07% had PE values above 0.54, 67.86% had Ae values over 7.0%, and 55.36% were with In values above 0.2 across all samples, indicating that most of the MiniHaps are suitable for individual identification, paternity testing, mixture deconvolution, and ancestry inference. Moreover, the results of PCA, phylogenetic tree and structure analysis demonstrated that this MiniHap panel had the competency in continental population ancestry inference, but the differentiation within intracontinental/linguistically restricted subpopulations was not ideal. Such findings suggested that the QNome device for MiniHap detection was feasible and this novel marker has the potential in ancestry inference. Yet, the establishment of a more comprehensive database with sufficient reference population data remains necessary to screen more suitable MiniHaps.

Systematic selections and forensic application evaluations of 111 individual identification SNPs in the Chinese Inner Mongolia Manchu group.

Single nucleotide polymorphism (SNP) possesses a promising application in forensic individual identification due to its wide distribution in the human genome and the ability to carry out the genotyping of degraded biological samples by designing short amplicons. Some commonly used individual identification SNPs are less polymorphic in East Asian populations. In order to improve the individual identification efficiencies in East Asian populations, SNP genetic markers with relatively higher polymorphisms were selected from the 1,000 Genome Project phase III database in East Asian populations. A total of 111 individual identification SNPs (II-SNPs) with the observed heterozygosity values greater than 0.4 were screened in East Asian populations, and then, the forensic efficiencies of these selected SNPs were also evaluated in Chinese Inner Mongolia Manchu group. The observed heterozygosity and power of discrimination values at 111 II-SNPs in the Inner Mongolia Manchu group ranged from 0.4011 to 0.7005, and 0.5620 to 0.8025, respectively, and the average value of polymorphism information content was greater than 0.3978. The cumulative match probability and combined probability of exclusion values at II-SNPs were 7.447E-51 and 1-4.17E-12 in the Inner Mongolia Manchu group, respectively. The accumulative efficiency results indicated that the set of II-SNPs could be used as a potential tool for forensic individual identification and parentage testing in the Manchu group. The sequencing depths ranged from 781× to 12374×. And the mean allele count ratio and noise level were 0.8672 and 0.0041, respectively. The sequencing results indicated that the SNP genetic marker detection based on the massively parallel sequencing technology for SNP genetic markers had high sequencing performance and could meet the sequencing requirements of II-SNPs in the studied group.

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.

Screening of highly discriminative microhaplotype markers for individual identification and mixture deconvolution in East Asian populations

Microhaplotypes are forensic genetic markers that combine single nucleotide polymorphisms in close proximity to one another. Highly discriminative microhaplotype markers could be superior to short tandem repeats (STRs) in DNA mixture deconvolution investigations because they are not interfered by stutters. In this study, the effective number of alleles (Ae) and discrimination power values of microhaplotypes and STRs were compared. It was found that current microhaplotypes are not as discriminative as commonly used forensic STRs. Effective screening of highly discriminative microhaplotype markers were consequently conducted for East Asian populations. To satisfy different forensic application needs, four sets of microhaplotypes with Ae values ≥ 4 were screened for under different conditions that included marker length and physical distances between markers. While the four sets contained 703, 301, 337, and 190 microhaplotypes, their average Ae values reached 5.38, 6.30, 7.39, and 5.61, respectively. The microhaplotype group containing 301 markers (maximum length of 200 bp and separated by ≥ 5 million bases) was further investigated. The results showed that none of the 301 loci were exactly the same as those previously reported, while seven loci partially overlapped with known markers. While Ae values of 45 loci were ≥ 8, the Ae value of the mh17WL-008 locus reached a maximum of 93.57. Further analysis showed that the newly identified microhaplotype markers were also highly polymorphic in African, American, European, and South Asian populations.

Genetic polymorphism of 19 autosomal STR loci in the Yi ethnic minority of Liangshan Yi autonomous prefecture from Sichuan province in China

The Yi is one of fifty-six ethnic populations and one of the most ancient ethnic groups in China. The Liangshan Yi Autonomous Prefecture (LYAP) in Sichuan Province has the single largest Yi community in China. To establish a Yi population database in the LYAP of Sichuan in China, a Goldeneye™ DNA Identification System 20A Kit with 19 autosomal STRs (short tandem repeats) was used. As a result, the total discrimination power (TDP) and the cumulative probability of exclusion (CPE) for these STRs in 1016 unrelated individuals were 0.999999999999999999999897 and 0.9999999597, respectively. Totals of 273 alleles for 19 STRs and 8–22 alleles for each locus were found. The allelic frequencies ranged from 0.0005 to 0.5084. The forensic parameter averages of these STRs were as follows: observed heterozygosity (Hobs) of 78.44%, expected heterozygosity (Hexp) of 79.89%, discrimination power (DP) of 92.66%, and probability of exclusion (PE) of 57.68%. Penta E presented the highest levels of Hobs and DP, whereas TPOX showed the lowest Hobs and DP values. Nei’s standard genetic distance matrix among 31 populations found that the nearest genetic distance to the Yi population was the Sichuan Han (0.0056). Altogether, we first reported the forensic parameters and allele frequencies of 19 autosomal STRs of the Yi group in Liangshan. These 19 STR makers could provide highly informative polymorphisms for individual identification, paternity testing and genetic population analyses.

Mitochondrial DNA Polymorphism in Zhejiang She Population Based on Next Generation Sequencing.

Objective To study the genetic polymorphism of whole mitochondrial DNA （mtDNA） genomes in She population in Zhejiang and to explore the maternal genetic structure of the She population. Methods Whole mtDNA genomes of 231 unrelated individuals from She population in Zhejiang Province were sequenced. The number of mutations and population genetics parameters such as, the haplotype diversity （HD）, discrimination power （DP）, and random match probabilities （RMP） were analyzed. The mtDNA haplogroups of Zhejiang She population were classified, and the maternal genetic relationships between She and nine other Chinese populations were estimated. Results In 231 Zhejiang She samples, 8 507 mutations （702 types） were observed and the samples were classified into 94 haplogroups. The HD, DP and RMP values were 0.998 6, 0.994 2 and 0.005 8, respectively. The lowest genetic differentiation degree （Fst=0.006 89） was detected between Zhejiang She population and southern Han population. Principal component analysis （PCA） and median-joining network analysis showed that the genetic distance of Zhejiang She population with Guangxi Yao, Yunnan Dai and Southern Han populations was relatively close, but the population still had some unique genetic characteristics. Conclusion The whole mtDNA genomes are highly polymorphic in Zhejiang She population. The Zhejiang She population contains complex and diverse genetic components and has a relatively close maternal genetic relationship with Guangxi Yao, Yunnan Dai and Southern Han populations. Meanwhile, Zhejiang She population has kept its unique maternal genetic components.

Use of Microsatellites in Genetic Diversity Assessment, Parentage Testing and Individual Identification of the Kangal Shepherd Dog

Abstract The Kangal Shepherd Dog is considered the most common dog breed of Turkish origin. This study investigated variations in ten autosomal microsatellite markers (PEZ01, PEZ03, PEZ05, PEZ06, PEZ08, PEZ12, PEZ20, FHC2010, FHC2054 and FHC2079) for the purposes of genetic diversity assessment of the Kangal breed. In addition, the use of markers was assessed in parentage testing and individual identification within the Kangal breed. The microsatellite markers were typed in 51 Kangal dogs. The total number of alleles in the study population was 69. The mean number of alleles per locus was 6.9, and varied from four (FHC2079) to 12 (PEZ12). The polymorphic information content (PIC) ranged from 0.52 (FHC2079) to 0.87 (PEZ12), with the mean value for all loci of 0.717. Power of exclusion (PE) in 10 microsatellites investigated varied between 0.143 (FHC2054) and 0.472 (PEZ08) per locus. In order to determine the efficiency of using microsatellites for individual identification in the Kangal breed, power of discrimination (PD) and matching probability (MP) were calculated for each microsatellite marker. The panel achieved high combined MP (6.77 × 10-10) and high combined PD value of 99.99999%. The obtained results may contribute to further recognition of the Kangal breed, and confirm that the investigated microsatellites enable a reliable parentage testing and individual identification of the breed.

X-STR decaplex study in the population of Imbabura-Ecuador

X chromosome STR markers are a useful tool in population genetics, they provide supplementary information for forensic and kinship analysis where autosomal and Y chromosome information is not enough. A total of 100 unrelated individuals from Imbabura-Ecuador were genotyped using the X-STR Decaplex system (DXS8378, DXS9902, DXS7132, DXS9898, DXS6809, DXS6789, DXS7133, GATA172D05, GATA31E08, and DXS7423). Allele frequencies and population parameters were calculated for each STR. The most informative marker was DXS6809 and the least informative was DXS7133. High discrimination power values were obtained (greater than 99.99%), as well as high mean exclusion chance in trios (mother / daughter / father) 0.9999948011 and duos (father/daughter) 0.9992880836. The genetic distance (FST) obtained comparing the Ecuadorian population and the Pichincha province population show low genetic distances. The data analyzed confirmed the potential of these 10 X-STRs.

Population genetic data of the 21 autosomal STRs included in GlobalFiler kit of a population sample from the Kingdom of Bahrain.

Bahrain’s population consists mainly of Arabs, Baharna and Persians leading Bahrain to become ethnically diverse. The exploration of the ethnic origin and genetic structure within the Bahraini population is fundamental mainly in the field of population genetics and forensic science. The purpose of the study was to investigate and conduct genetic studies in the population of Bahrain to assist in the interpretation of DNA-based forensic evidence and in the construction of appropriate databases. 24 short-tandem repeats in the GlobalFiler PCR Amplification kit including 21 autosomal STR loci and three gender determination loci were amplified to characterize different genetic and forensic population parameters in a cohort of 543 Bahraini unrelated healthy men. Samples were collected during the year 2017. The genotyping of the 21 autosomal STRs showed all of the loci were in Hardy-Weinberg Equilibrium (HWE) after applying Bonferroni’s correction. We also found out no significant deviations from LD between pairwise STR loci in Bahraini population except when plotting for D3S1358-CSF1PO, CSF1PO-SE33, D19S433-D12S391, FGA-D2S1338, FGA-SE33, FGA-D7S820 and D7S820-SE33. The SE33 locus was the most polymorphic for the studied population and THO1 locus was the less polymorphic. The Allele 8 in TPOX scored the highest allele frequency of 0.496. The SE33 locus showed the highest power of discrimination (PD) in Bahraini population, whereas TPOX showed the lowest PD value. The 21 autosomal STRs showed a value of combined match probability (CMP) equal to 4.5633E-27, and a combined power of discrimination (CPD) of 99.99999999%. Off-ladders and tri-allelic variants were observed in various samples at D12S391, SE33 and D22S1045 loci. Additionally, pairwise genetic distances based on FST were calculated between Bahraini population and other populations extracted from the literature. Genetic distances were represented in a non-metric MDS plot and clustering of populations according to their geographic locations was detected. Phylogenetic tree was constructed to investigate the genetic relatedness between Bahraini population and the neighboring populations. Our study indicated that the twenty-one autosomal STRs are highly polymorphic in the Bahraini population and can be used as a powerful tool in forensics and population genetic analyses including paternity testing and familial DNA searching.

Genetic distribution and forensic evaluation of multiplex autosomal short tandem repeats in the Chinese Xinjiang Mongolian group.

To further enrich the genetic data of the Chinese Xinjiang Mongolian group, the genetic distribution and forensic parameters of 19 autosomal short tandem repeats (STRs) were investigated. Altogether, 249 alleles were observed in these 19 STRs. The mean values of the polymorphism information content (PIC), match probability (MP), discrimination power (DP), and probability of exclusion (PE) for these 19 STRs were 0.7775, 0.0699, 0.9301, and 0.6085, respectively. Additionally, the cumulative DP and PE values obtained in the Mongolian group were 0.999 999 999 999 999 999 999 995 67 and 0.999 999 992 163, respectively. Furthermore, population genetic analysis of the Mongolian group and 20 published populations was conducted based on the population data of 15 overlapping STRs. Genetic distances indicated that the Mongolian group had closer genetic similarities with the Uyghur, Xibe, and other Chinese populations rather than the other continental populations. Multidimensional scaling analysis further revealed that the Mongolian group possessed similar genetic distributions as most Chinese populations. To sum it all up, these STRs could be used as an extremely efficient tool for forensic applications in the Xinjiang Mongolian group.

Forensic parameters and admixture in seven geographical regions of the Guerrero state (South, Mexico) based on STRs of the Globalfiler® kit

Background: New commercial STR kits have emerged with greater numbers of markers, which allows for obtaining stronger conclusions in forensic casework, which has been poorly studied in Mexico.Aim: To obtain forensic parameters and to analyse the genetic relationships, structure and admixture in seven geographic regions of Guerrero state (South, Mexico) based on the Globalfiler® kit.Subjects and methods: A total of 245 unrelated Mexican individuals from seven regions of the state of Guerrero were analysed with the Globalfiler® kit. Forensic parameters, pairwise comparisons, genetic distances, structure analysis and admixture levels were estimated.Results: Allele frequencies and forensic parameters of 22 STRs were estimated in this Mexican population sample. The combined power of exclusion and power of discrimination values were > 99.9999% and >99.99999999%, respectively. The Native American, European and African ancestries estimated in the Guerrero state population were 70.9%, 25.9% and 3.2%, respectively.Conclusion: Forensic validation of the Globalfiler® kit was performed in the Guerrero state population. The geographic isolation level seems to be the principal factor in defining genetic relationships and admixture among the Guerrero sub-populations. Despite the intrinsic limitations of STRs for admixture analysis, these results are very close to previous values based on AIMs and genome-wide SNPs.

Evaluation of the Microhaplotypes panel for DNA mixture analyses

The identification of a suspect in a DNA mixture typed with the standard short tandem repeat polymorphism (STR) kits has faced challenges. Several improved methods or technologies have been introduced to address this issue. However, some complex situations in the process remain elusive. In the present study, we presented a panel of 26 tiny microhaplotypes, each generating a relatively high (>3.0) effective number of alleles (Ae) and possessing low (<50 bp) sequence lengths. The average Ae and heterozygosity values among the 9 populations of 26 microhaps were in ranges from 2.60 to 4.54 and 0.59 to 0.96, respectively. Power of discrimination and power of exclusion values were ranged from 0.49 to 0.87 and 0.29 to 0.94, respectively. Significant positive correlations have been found between Ae values and heterozygosity (r = 0.43, p = 0.02) or power of discrimination values (r = 0.55, p = 0.003), respectively. The cumulative probability of detecting a mixture of two unrelated individuals could reach 0.9999998 when using a panel of 26 microhaps with Ae = 3. We further tested the panel by using massively parallel sequencing, and 14 out of 26 microhaps were successfully genotyped in a single multiplex system. 60 unrelated Chinese Han individuals and 2 artificially prepared samples mixed by two unrelated contributors (in duplicate, ie. 4 mixtures) were sequenced. Approximately 32.14% of the 14 loci presented three or four alleles in the two mixtures. The likelihood ratio values to cognizance the mixtures’ contributor were in a range from 1.95 × 106 to 1.10 × 107. The results demonstrated that the present panel could offer a valuable complementary tool in forensic applications.

Forensic parameters for 15 autosomal STRs in Mestizo population from the state of Guerrero (South, Mexico).

Allele distribution and forensic parameters were estimated for 15 STR loci (AmpFlSTR Identifiler kit) in 251 Mexican-Mestizos from the state of Guerrero (South, Mexico). Genotype distribution was in agreement with Hardy-Weinberg expectations for all 15 STRs. Similarly, linkage disequilibrium test demonstrated no association between pair of loci. The power of exclusion and power of discrimination values were 99.999634444% and >99.99999999%, respectively. Genetic relationship analysis regarding Mestizo populations from the main geographic regions of Mexico suggests that the Center and the present South regions conform one population cluster, separated from the Southeast and Northwest regions.

Genetic characterization of an X-STR decaplex system in the State of Mato Grosso, Brazil: distribution, forensic efficiency and population structure

Studies with X-STR loci show population genetic substructure, which makes necessary the characterization of such markers in the different geographical and/or ethnic populations. Therefore, this study assessed the distribution and forensic efficiency of an X-STR decaplex system in the population of the State of Mato Grosso, as well as analysed the population structure of this State based on the aforementioned system. All X-STR markers were in Hardy-Weinberg equilibrium and linkage equilibrium, and the DXS6809 was the most informative marker. The power of discrimination value in females and males was 0.99999999995 and 0.9999994, respectively. Analysis of molecular variance indicated 1.10% (p<0.00001) of heterogeneity among Europeans, Africans, Brazilians and other Latin Americans, and in relation to such groups, the population of the State of Mato Grosso showed lower genetic variation when compared with the Brazilian group (-0.10%, p=0.67327). The genetic distance analysis showed lower values of F ST (0.0004≤F ST≤0.00331), with non-significant p value (p>0.00024), between the populations of Mato Grosso and Mato Grosso do Sul, Paraná and the Southeast region of Brazil (except for one sample of Rio de Janeiro). F ST values with significant p values (p≤0.00024) were obtained between the population of Mato Grosso and Iberian, African and some Latin American populations. The X-STR decaplex system proved to be extremely useful in the population of the State of Mato Grosso, and the data obtained does not show the need for a specific forensic database for this State in relation to the Brazilian populations compared in this study, except for population of Rio de Janeiro.

Study of autosomal STR loci with IBS method in full sibling identification.

We investigated the application of 51 autosomal short tandem repeat (STR) loci with the identity by state (IBS) method and a discriminant function algorithm in full-sib identification. A total of 342 pairs of full sibs (FSs) and 3900 pairs of unrelated individuals (UIs) were genotyped for 51 STR loci. Groups were formed in accordance with discrimination power (DP) values and the number of loci, and IBS scores of FSs and UIs were analyzed and compared. The discriminant functions of FS-UI were determined by using the Fisher discriminant with SPSS software. All IBS in FSs and UIs groups showed normal distributions and there were significant differences between FS-UI. Receiver operating characteristic curves revealed that the detection efficiency of full-sib identification was affected by both the locus polymorphism and the number of loci detected. Comparing the rate of false positive and false negative of discriminant function between groups, a higher average DP value and larger number of loci detected were associated with a lower rate of miscarriage of justice and were more helpful for full-sib identification. STRs with higher DP values should be selected when additional autosomal markers are required for FS identification. Discriminant analysis with the IBS method is highly applicable for the FS-UI test.

Genetic identification of 43 elite clonal accessions ofPopulus deltoidesby SSR fingerprinting

In this study, 43 elite clones of Populus deltoides were fingerprinted with ABI 3730 capillary electrophoresis by using six SSR primer pairs. Based on the fingerprinting profiles, 62 polymorphic bands were generated with a mean number of 10 alleles per locus, and allele numbers amplified by each primer in these clones ranged from 5 (NJFUP-poly10) to 16 (NJFUP-poly07). The power of discrimination values for these primer pairs ranged from 0.80 to 0.94, with an average value of 0.89. Among the six primer pairs, the most efficient primer pair for genetic discrimination of these elite clones was NJFUP-poly02, which could identify 22 of the 43 elite clones directly. In conclusion, all the 43 elite clones of P. deltoides could be discriminated unambiguously based on their genotypes at the six SSR loci. The combination of all six loci gave considerable reliability and accuracy for genetic identification of these clonal accessions. Subsequently, genetic relationship of these clones was plotted by the UPGMA clustering and principle component analysis. Results of both analyses indicated that clone “C7-1” had the largest genetic distance from the other clones, followed by clone “C51-1” and a subgroup comprising clone “C100-3” and “C62-3”. These clones are proposed to be possibly more affected by the inter-specific gene introgression.

Development, characterization and use of genomic SSR markers for assessment of genetic diversity in some Saudi date palm (Phoenix dactylifera L.) cultivars

Background : The present study was undertaken towards the development of SSR markers and assessing genetic relationships among 32 date palm ( Phoenix dactylifera L.) representing common cultivars grown in different geographical regions in Saudi Arabia. Results : Nintythree novel simple sequence repeat markers were developed and screened for their ability to detect polymorphism in date palm. Around 71% of genomic SSRs were dinucleotide, 25% tri, 3% tetra and 1% penta nucleotide motives. Twenty-two primers generated a total of 91 alleles with a mean of 4.14 alleles per locus and 100% polymorphism percentage. A 0.595 average polymorphic information content and 0.662 primer discrimination power values were recorded. The expected and observed heterozygosities were 0.676 and 0.763 respectively. Pair-wise similarity values ranged from 0.06 to 0.89 and the overall cultivars averaged of 0.41. The UPGMA cluster analysis recovered by principal coordinate analysis illustrated that cultivars trend to group according to their class of maturity, region of cultivation, and fruit color. Analysis of molecular variations (AMOVA) revealed that genetic variation among and within cultivars were 27% and 73%, respectively according to geographical distribution of cultivars. Conclusions : The developed microsatellite markers are additional values to date palm characterization tools can be used by researchers in population genetics, cultivars identification as well as genetic resources exploration and management. The tested cultivars exhibited a significant amount of genetic diversity and could be suitable for successful breeding program. Genomic sequences generated from this study are available at National Center for Biotechnology Information (NCBI), Sequence Read Archive (Accession numbers. LIBGSS_039019 ). /* Style Definitions */ table.MsoNormalTable {mso-style-name:Tabla normal; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-parent:; mso-padding-alt:0cm 5.4pt 0cm 5.4pt; mso-para-margin:0cm; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:10.0pt; font-family:Calibri,sans-serif;}

Forensic evaluation and population genetic study of 30 insertion/deletion polymorphisms in a Chinese Yi group.

Insertion/deletion polymorphisms have become a research hot spot in forensic science due to their tremendous potential in recent years. In the present study, we investigated 30 indel loci in a Chinese Yi ethnic group. The allele frequencies of the short allele of the 30 indel loci were in the range of 0.1025-0.9221. The power of discrimination values were observed ranging from to 0.2630 (HLD111 locus) to 0.6607 (HLD70 locus) and probability of exclusion values ranged from 0.0189 (HLD111 locus) to 0.2343 (HLD56 locus). The combined power of discrimination and power of exclusion for 30 loci in the studied Yi group were 0.99999999995713 and 0.97746, respectively, which showed tremendous potential for forensic personal identification in the Yi group. Moreover, the DA distances, phylogenetic tree, principal component analysis, and cluster analysis showed the Yi group had close genetic relationships with the Tibetan, South Korean, Chinese Han, and She groups.

English

The objectives of the study included the detection of genetic variation of 21 autosomal short tandem repeats (STRs) loci from random unrelated individuals in the middle and South Arab people of Iraq, the Forensic efficiency parameters of the autosomal 21 genetic loci using power plex21® kit and to evaluate the importance of these loci for forensic genetic purposes and the possibility to use the new kit in routine practical work. FTA® Technology was utilized to extract DNA from blood collected on FTA™ paper. Twenty one (21) STR loci including D3S1358, D13S317, PentaE, D16S539, D18S51, D2S1338, CSF1PO, Penta D, THO1, vWA, D21S11, D7S820, TPOX, D8S1179, FGA, D1S1656, D5S818, D6S1043, D12S391, D19S433 and Amelogenin were amplified by using power plex21® kit. PCR products were detected by genetic analyzer 3130xL then, the data processed and analyzed by PowerStatsV1.2 software. Several statistical parameters of genetic and forensic efficiencies based on allelic frequencies have been estimated. This includes the observed heterozygosity (Ho), expected heterozygosity (He), paternity index (PI), random match probability (RMP), power of discrimination (PD), chance of exclusion (CE), polymorphic information content (PIC) and P-value. The power of discrimination values for autosomal tested loci was from 75 to 96% therefore those loci can be safely used to establish a DNA-based database for Iraq population for identifical purpose. The high PIC values of the selected markers confirm their usefulness for genetic polymorphism studies and linkage mapping programs in human as well. The mean heterozygosity observed, expected and mean PIC values across the 20 loci were 0.79, 0.83 and 0.81, respectively indicating high gene diversity. A total of nine off-ladder alleles and one tri-allelic pattern were detected in this study. Key words: Autosomal STR, Iraq, off ladder, statistical parameters, tri-allelic pattern.