Autosomal microsatellite allele frequencies for 15 regionally defined Aboriginal Australian population datasets

DNA profiling results presented in court must be accompanied by a statistical estimate of its evidential weight. In calculating such statistics, allele frequencies from the tested loci are required. These allele frequencies should be collected at a level that appropriately represents the genetic diversity that exists in the population. This paper reports allele frequencies and the results of population genetic testing of autosomal microsatellite profiles from indigenous Australian donors. In contrast to previous practice these data have been collated according to traditional regional boundaries rather than recently imposed State and Territory borders.     

Population data from the New South Wales Aboriginal Australian sub-population for the profiler plus autosomal short tandem repeat (STR) loci

It is a requirement that forensic DNA profiling evidence be accompanied by an estimation of its weight, in order that the court can assign an appropriate probative value to it during legal proceedings. There are various models by which this estimation can be made, but each relies on approximations of the allele frequencies in the relevant population. This report provides the results of population genetic analyses at nine autosomal short tandem repeat (STR) loci for the Aboriginal Australian sub-population of New South Wales, Australia.     

Implications for DNA identification arising from an analysis of Australian forensic databases

Previous analyses of Australian samples have suggested that populations of the same broad racial group (Caucasian, Asian, Aboriginal) tend to be genetically similar across states. This suggests that a single national Australian database for each such group may be feasible, which would greatly facilitate casework. We have investigated samples drawn from each of these groups in different Australian states, and have quantified the genetic homogeneity across states within each racial group in terms of the "coancestry coefficient" F(ST). In accord with earlier results, we find that F(ST) values, as estimated from these data, are very small for Caucasians and Asians, usually <0.5%. We find that "declared" Aborigines (which includes many with partly Aboriginal genetic heritage) are also genetically similar across states, although they display some differentiation from a "pure" Aboriginal population (almost entirely of Aboriginal genetic heritage).     

Autosomal microsatellite allele frequencies for a nationwide dataset from the Australian Caucasian sub-population

DNA profiling results presented in court must be accompanied by a statistical estimate of its evidential weight. In calculating such statistics, allele frequencies from the tested loci are required. This paper reports allele frequencies and the results of population genetic testing of datasets of autosomal microsatellite profiles from Australian Caucasian donors. In contrast to previous practice in Australia these data have been collated at the national level rather than at the State and Territory level. We consider that this national dataset could be used in forensic DNA casework throughout Australia as previously recommended by Ayres et al. [K.L. Ayres, J. Chaseling, D.J. Balding, Implications for DNA identification arising from an analysis of Australian forensic databases, Forensic Sci. Int. 129 (2002) 90-98].     

中国4个群体VDR基因2号外显子的SNP基因座遗传多态性

目的 调查中国北方汉族、维吾尔族、藏族和哈萨克族群体维生素D受体基因2号外显子SNP基因座的遗传多态性和群体差别。方法 应用PCR-RFLPs和DNA序列分析技术对271例个体的DNA样品进行分型。结果等位基因ACG的频率最高,分布在0.57～0.72之间。藏族与维吾尔族基因型ACG/ATG的频率超过0.5,汉族基因型ACG/ATG与ACG/ACG的频率均为0.3976;哈萨克族基因型ACG/ACG的频率达到0.5769。DP值与EPP值在4个群体中均超过0.56和0.16。基因型分布符合Hardy-Weinberg平衡,并在4个群体间有一定程度差异。结论 维生素D受体基因2号外显子SNP基因座具有较高的多态性,并具有一定的群体差别。     

Development of 30 InDel markers typing system and genetic analysis in five different Chinese populations

Allele frequencies of 30 InDel markers previously selected and validated for forensic purpose were assessed in 419 unrelated individuals originating from five different populations of Chinese Han, Chinese Hui, Uighur, Mongolian and Tibetan in P.R. China. Hardy–Weinberg equilibrium tests and linkage disequilibrium analysis were performed and the results showed that allele frequency distributions of the 30 InDel markers had meet the genetic equilibrium in all of the five populations and the InDel markers on same chromosome did not generate any linkage block. Analysis of molecular variance (AMOVA) indicated that genetic variation among the 5 studied populations represent only 4.00% of the total genetic diversity. We observed the cumulative power of discrimination (CPD) for each studied population was 0.99999999999841 in Chinese Han population, 0.99999999999690 in Chinese Hui population, 0.99999999999709 in Uighur population, 0.99999999999772 in Mongolian population and 0.99999999999854 in Tibetan population.     

Iranian STR variation at the fringes of biogeographical demarcation

The integrative relationship between population genetics and forensic biology allows for a thorough genetic characterization of extant human populations. This study aimed to genetically characterize 150 unrelated healthy donors from a general population in Iran both forensically and phylogenetically. The allelic frequencies of 15 STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA) were generated. This constitutes the core of polymerase chain reaction (PCR)-based DNA genetic markers in the US Combined DNA Index System (CODIS) plus two additional loci (D2S1338 and D19S433) that together are consistent with several other worldwide database requirements. There were no deviations from Hardy-Weinberg expectations. Based upon the allelic frequencies, several important forensic parameters were calculated including: gene diversity (GD) index, power of discrimination (PD), polymorphic information content (PIC) and power of exclusion (PE). G-tests indicate the allelic frequencies of the Iranians are statistically non-significant compared to two Turkish populations yet, statistically different from the remaining 18 groups obtained from the literature and examined in this study. This suggests that the Iranian dataset may be forensically equivalent to the dataset from the Turkish region of Eastern Anatolia and the general population from Turkey. Phylogenetic analysis of our population with the full set of 15 loci indicate the Iranians occupy an intermediate position relative to the major Caucasian and East Asian clades on a global level. A regional phylogenetic analysis using 13 of the 15 loci indicate the Iranians segregate in a more compact association with groups from southeastern Spain, Arabs from Morocco and Syria, and especially with the general population from Turkey and those from Eastern Anatolia. These groups are flanked by highly differentiated populations from northern India and a Berber group from Tunisia on opposing ends of the regional phylogram. This report also demonstrates the necessity to thoroughly characterize the genetic composition of populations located in geographic intersections in order to choose the appropriate dataset on which to base forensic calculations, not only at an intra-population level, but also at an inter-population level as well.     

Forensic genetic value of 27 Y-STR loci (Y-Filer® Plus) in the South African population

South Africa has one of the highest rape statistics in the world, with an average of 117 rapes reported daily. Y-STR genotyping is becoming a popular tool in the analysis of DNA evidence collected after a crime of a sexual nature has been committed, but has yet to be implemented in South Africa’s forensic laboratories. This study aimed to investigate the forensic value of the 27 Yfiler™ Plus loci in the South African population. A total of 271 samples from the African, Asian/Indian, Mixed Ancestry¹, and Caucasian populations at the University of the Free State in Bloemfontein, South Africa were amplified and analysed using ThermoFisher Scientific’s Yfiler™ Plus PCR Amplification kit. Of the 271 samples, 261 were identified to be unique, with an overall discrimination capacity of 98.15%. Discrimination capacities ranged from 91.67% for the Asian/Indian population to 100% for the Mixed Ancestry population. The haplotype diversity across the four populations is 0.9999, with an average gene diversity across all loci of 0.717. The forensic parameters estimated in this study provide evidence for the potential use of the commercial Yfiler™ Plus PCR amplification kit in a forensic application in South Africa.     

STR等位基因频率对父权指数的影响

目的观察中国汉族不同人群STR等位基因频率对联合父权指数(CPI)的影响。方法随机取108例13个CODIS基因座分型结果不排除父权关系的三联体案和二联体案,用5个不同地区人群的等位基因频率计算CPI值。结果三联体案的CPI值在2077.63～50897711626.46之间,同一案例的最大CPI与最小值CPI之比大于100者有20例(19.52%);二联体案的CPI值在25.12～2998685141之间,同一案例的最大CPI与最小值CPI之比大于100者有13例(12.04%)。结论不同人群等位基因频率计算CODIS基因座所得的CPI值在部分亲权鉴定案中有很大的差异。为了防止等位基因频率不确定性带来的误差,建议在亲权鉴定中用保守法计算CPI值。     

Developing STR databases on structured populations: The native South Siberian population versus the Russian population

Developing a forensic DNA database on a population that consists of local ethnic groups separated by physical and cultural barriers is questionable as it can be genetically subdivided. On the other side, small sizes of ethnic groups, especially in alpine regions where they are sub-structured further into small villages, prevent collecting a large sample from each ethnic group. For such situations, we suggest to obtain both a total population database on allele frequencies across ethnic groups and a list of θ-values between the groups and the total data. We have genotyped 558 individuals from the native population of South Siberia, consisting of nine ethnic groups, at 17 autosomal STR loci of the kit packages AmpFlSTR SGM Plus и AmpFlSTR Profiler Plus. The groups differentiate from each other with average θ-values of around 1.1%, and some reach up to three to four percent at certain loci. There exists between-village differentiation as well. Therefore, a database for the population of South Siberia is composed of data on allele frequencies in the pool of ethnic groups and data on θ-values that indicate variation in allele frequencies across the groups. Comparison to additional data on northeastern Asia (the Chukchi and Koryak) shows that differentiation in allele frequencies among small groups that are separated by large geographic distance can be even greater. In contrast, populations of Russians that live in large cities of the European part of Russia are homogeneous in allele frequencies, despite large geographic distance between them, and thus can be described by a database on allele frequencies alone, without any specific information on θ-values.     

Genetic differentiation within and between four UK ethnic groups

In previous papers [L.A. Foreman, J.A. Lambert, I.W. Evett, Regional genetic variation in Caucasians, Forensic Sci. Int. 95 (1998) 27-37; L.A. Foreman, Analyses to investigate appropriate measures of differentiation between European Caucasian populations using short tandem repeat (STR) data, FSS Research Report FSS-RR-804 (1999)], we have carried out detailed investigations of the level of regional and national variation in STR characteristics exhibited within white Caucasian populations. The studies described here extend our earlier work to the black African/Caribbean and Asian (Indo-Pakistani) populations of the UK, routinely considered in casework calculations at the Forensic Science Service (FSS). In addition, estimation of allele distributions and database comparisons are carried out for two further populations, i.e. those classified as containing individuals of Oriental and Arabic appearance.     

Mitochondrial DNA typing screens with control region and coding region SNPs

Mitochondrial DNA (mtDNA) analysis has found an important niche in forensic DNA typing. It is used with highly degraded samples or low-copy number materials such as might be found from shed hair or bones exposed to severe environmental conditions. The primary advantage of mtDNA is that it is present in high copy number within cells and therefore more likely to be recovered from highly degraded specimens. A major disadvantage to traditional forensic mtDNA analysis is that it is time-consuming and labor-intensive to generate and review the 610 nucleotides of sequence information commonly targeted in hypervariable regions I and II (HVI and HVII) of the control region. In addition, common haplotypes exist in HVI/HVII mtDNA sequences that can reduce the ability to differentiate two unrelated samples. In this report we describe the utility of two newly available screening assays for rapid exclusion of non-matching samples. The LINEAR ARRAY mtDNA HVI/HVII Region-Sequencing Typing Kit (Roche Applied Science, Indianapolis, IN) was used to type 666 individuals from U.S. Caucasian, African American, and Hispanic groups. Processing of the LINEAR ARRAY probe panels "mito strips" was automated on a ProfiBlot workstation. Observable variation in 666 individuals is reported and frequencies of the mitotypes within and between populations are presented. Samples exhibiting the most common Caucasian mitotype were subdivided with a multiplexed amplification and detection assay using eleven single nucleotide polymorphisms in the mitochondrial genome. These types of screening assays should enable more rapid evaluation of forensic casework samples such that only samples not excluded would be subjected to further characterization through full HVI/HVII mtDNA sequence analysis.     

Jordanian population data on the PCR-based loci: LDLR, GYPA, HBGG, D7S8 and GC.

Genotype and allele frequency distributions for PM polymerase chain reaction (PCR)-based genetic markers were determined in a Jordanian sample population. Results were obtained using the AmpliType PM PCR Amplification and typing kit. All loci were in agreement with the Hardy-Weinberg equilibrium expectations. The predominant alleles for LDLR, GYPA, HBGG, D7S8 and GC loci were B, A, B, A and C respectively. No statistically significant variation was detected in allele frequencies of these loci in Jordanians compared to that in Israeli Arab, U.S Caucasian and Japanese populations. Data presented here can be used to estimate the frequency of a specific DNA profile in the Jordanian population for forensic analyses and paternity testing.     

Thousands of years of Malay and Chinese population history in Indonesia and its implication on Paternity Index in DNA paternity testing

The existence of the Chinese population in the predominantly Malay population in Indonesia can be traced back thousands of years, and it has been suspected that it played an essential role in the history of the Malay population origin in Maritime South East Asia. With the fact that the Malay-Indonesian population is currently predominant compared to the Chinese population in Indonesia (Chinese-Indonesian), the selection of the origin of the STRs allele frequency panel population becomes an issue in DNA profiling, including in paternity testing. This study analyses the genetic relationship between the Chinese-Indonesian and Malay-Indonesian populations and how this affects the Paternity Index (PI) ??calculation in paternity test cases. The study of the relationship between populations was carried out using neighbour-joining (NJ) tree analysis and multidimensional scaling (MDS) on the allele frequency panel of 19 autosomal STRs loci of Malay-Indonesian (n = 210) and Chinese-Indonesian (n = 78) populations. Four population groups were used as references: Malay-Malaysian, Filipino, Chinese, and Caucasian. An MDS analysis was also performed based on the pairwise F_ST calculation. The combined Paternity Index (CPI) calculation was carried out on 132 paternity cases from the Malay-Indonesian population with inclusive results using a panel of allele frequencies from the six populations. The pairwise F_ST MDS indicates a closer relationship between the Chinese-Indonesian and Malay-Indonesian compared to the Chinese population, which is in line with the CPIs comparison test. The outcome suggests that the alternative use of allele frequency database between Malay-Indonesian and Chinese-Indonesian for CPI calculations is not very influential. These results can also be considered in studying the extent of genetic assimilation between the two populations. In addition, these results support the robustness claim of multivariate analysis to represent phenomena that phylogenetic analyses may not be able to demonstrate, especially for massive panel data.     

Data on the PCR Turkish population based loci: LDLR, GYPA, HBGG, D7S8, and Gc

Allele and genotype frequencies for the five PCR-based loci were analyzed in 157 unrelated Turkish individuals. The five PCR-based loci included LDLR, GYPA, HBGG, D7S8, and Gc. The results of the chi-square and exact tests showed that the genotype distribution at the LDLR, GYPA, D7S8, and Gc loci did not significantly differ from the Hardy-Weinberg Expectation (HWE). However, the genotype distribution at the HBGG locus did not conform to HWE. Moreover, the genotype frequencies calculated in this study were compared with the published genotype frequencies of US African American and US Caucasian populations. The Turkish population was significantly different at the HBGG locus from the US Caucasian population. However, there were highly significant differences at the LDLR, HBGG, and Gc loci between the Turkish and African American populations.     

PCR-based DNA analysis of vWA31A,TH01, F13A01, FESFPS,TPOX and CSF1PO

The allele and genotype frequencies of 6 tetranucleotide STR loci were investigated in a sample of 132 unrelated individuals from Chinese Han population. The PCR products were analyzed on 6% denaturing PAGE and detected using fluorescently labeled primers in an automated 377 sequencer(PE). All loci meet Hardy-Weinberg equilibrium. There was no random association of alleles among the 6 loci. The allele frequencies were compared with other population databases. Except locus vWA31A, the observed heterozygosity at other 5 loci was significantly lower than that reported in Caucasian and Black population studies. The calculated DP = 0.99999, PE = 0.9708, pM = 1.059 x 10(-5). The allelic frequency data can be used in forensic identification and paternity testing.     

Analysis of forensically used autosomal short tandem repeat markers in Polish and neighboring populations

The purpose of this study was to evaluate the homogeneity of Polish populations with respect to STRs chosen as core markers of the Polish Forensic National DNA Intelligence Database, and to provide reference allele frequencies and to explore the genetic interrelationship between Poland and neighboring countries. The allele frequency distribution of 10 STRs included in the SGMplus kit was analyzed among 2176 unrelated individuals from 6 regional Polish populations and among 4321 individuals from Germany (three samples), Austria, The Netherlands, Sweden, Czech Republic, Slovakia, Belarus, Ukraine and the Russian Federation (six samples). The statistical approach consisted of AMOVA, calculation of pairwise Rst values and analysis by multidimensional scaling. We found homogeneity of present day Poland and consistent differences between Polish and German populations which contrasted with relative similarities between Russian and German populations. These discrepancies between genetic and geographic distances were confirmed by analysis of an independent data set on Y chromosome STRs. Migrations of Goths, Viking influences, German settlements in the region of Volga river and/or forced population resettlements and other events related to World War II are the historic events which might have caused these finding.     

Inferring the population of origin of DNA evidence within the UK by allele-specific hybridization of Y-SNPs

Marked differences in Y-SNP allele frequencies between continental populations can be used to predict the biogeographic origin of a man's ancestral paternal lineage. Using 627 samples collected from individuals within the UK with pale-skinned Caucasian, dark-skinned Caucasian, African/Caribbean, South Asian, East Asian or Middle Eastern appearance we demonstrate that an individual's Y-SNP haplogroup is also strongly correlated with their physical appearance. Furthermore, experimental evaluation of the Marligen Signet Y-SNP kit in conjunction with the Luminex 100 detection instrument indicates that reliable and reproducible haplogrouping results can be obtained from 1 ng or more of target template derived from a variety of forensic evidence types including, blood, saliva and post-coital vaginal swabs. The test proved highly male-specific with reliable results being generated in the presence of a 1000-fold excess of female DNA, and no anomalous results were observed during degradation studies despite a gradual loss of typable loci. Hence, Y-SNP haplogrouping has considerable potential forensic utility in predicting likely ethnic appearance.     

Genetic variation at six STR loci (HUMTH01, HUMTPOX, HUMCSF1PO, HUMF13A01, HUMFES/FPS, HUMVWFA31) in Aragon (north Spain).

The STR loci HUMTH01, HUMPTPOX, HUMCSF1PO, HUMF13A01, HUMFES/FPS and HUMVWFA31 are widely used in forensic casework analyses and population data are necessary to estimate the frequency of a DNA profile. This paper presents the results of a survey aimed to investigate the allele frequency distribution of these loci in an important Spanish population (Aragon, North Spain). Statistical analysis to determine whether allele frequencies were in Hardy-Weinberg Equilibrium was carried out and also to obtain some parameters of medico-legal interest. There was no evidence of association between the alleles of the loci. The Aragonese sample does not differ substantially from other Caucasian populations.     

The analysis of three short tandem repeat (STR) loci in the Slovene population by multiplex PCR

Allele frequencies for three tetrameric short tandem repeat (STR) loci D3S1358, HUMVWA, and HUMFGA were determined in a Slovene Caucasian population sample. DNA samples from a total of 221 Slovenes were amplified by multiplex PCR using the commercial kit AmpFISTR Blue (Perkin-Elmer). Separation and detection of the amplified STR fragments were carried out using a 377 automated genetic analyzer (Applied Biosystem Division/Perkin Elmer). Seven alleles at the D3S1358 locus, 8 alleles at the HUMVWA31A locus, and 13 alleles at the HUMFGA locus were observed. A deviation from Hardy-Weinberg equilibrium was observed, only at the HUMVWA31A locus (p = 0.045, exact test). The departure at this locus was not significant after Bonferroni correction. There were no detectable departures between pairwise comparisons of the loci. The combined power of discrimination for all three loci is 0.9998, and the power of exclusion is 0.9526. The observed allele frequencies for the loci D3S1358, HUMVWA31A, and HUMFGA are similar to those in European and U.S. Caucasian populations.