Genetic polymorphisms of 21 autosomal STR loci in Chinese Uygur ethnic population

Genetic polymorphisms of 21 short tandem repeat (STR) loci were studied in 576 unrelated Uygur individuals living in Urumqi using Goldeneye™ DNA ID 22NC system. Population data of all loci, except one locus (D1S1656), had no significant deviation from Hardy-Weinberg equilibrium. A high degree of genetic polymorphisms was showed by all STR loci in Urumchi Uygur population. The combined power of discrimination (CPD) was 0.999999999999999999999999985256 and the combined power of exclusion (CPE) was 0.999999997207836. In addition, we performed comparisons between the data from Uygur population with previously published data obtained from other populations.

     

Population data of 15 STR loci of Chinese Yi ethnic minority group

Allele frequency data and statistical parameters for D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA loci were determined in a sample of 120 healthy unrelated individuals of Chinese Yi ethnic minority group living in Yunnan province, China. We observed 132 alleles with allelic frequencies ranging from 0.0042 to 0.5333. The forensic statistical parameters from the data of all the loci showed high values. All loci were in accordance with Hardy-Weinberg equilibrium (p>0.05). The obtained frequency distributions were compared with previously published other population data, and significant differences were found between Yi population and Korean, Chinese Tibetan, Uigur, Ewenki, Han, Hui population at some STR loci. Our results of present study were valuable for forensic application and Chinese population genetic studies. These population data enriched Chinese genetic informational resources.     

Genetic analysis of 15 STR loci in the population of Zhejiang Province (Southeast China)

Fifteen autosomal STR loci were analyzed from a population sample of 598 unrelated individuals residing in Zhejiang Province. We report allele frequencies distribution and statistical parameters for all 15 STR loci, D8S1179, D21S11, D7S820, CSF1PO, D3S1358, THO1, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818 and FGA. Allele frequencies, the observed heterozygosity (Ho), the polymorphic information content (PIC), and the probability of paternity exclusion (PE) were calculated. All loci were in accordance with Hardy–Weinberg equilibrium (P > 0.05). Our studied population data were compared with the previously published population data of other ethnic groups or areas in China. Our results of present study were valuable for human identification and paternity tests in Zhejiang Province.     

Characterization of GlobalFiler loci in Angolan and Guinean populations inhabiting Southern Portugal

We analyzed the GlobalFiler short tandem repeat (STR) loci for 152 and 70 unrelated individuals from Angolan and Guinean immigrant populations inhabiting Southern Portugal, respectively. After Bonferroni correction, no significant deviations from the Hardy–Weinberg equilibrium and linkage disequilibrium were detected for either population. For the Angolan population, SE33 was the most informative marker. In contrast, D5S818 and D13S317 were the least informative loci. The combined power of discrimination was 99.9999999999999999999999961907%. For the Guinean population, SE33 and D21S1 were the most informative loci, while D13S317 was the least. The combined power of discrimination was 99.99999999999999999999997915%. No significant differences were observed between Angolan, Guinean, and Afro-American populations for any of the analyzed STRs. The South African population presented significant differences at D22S1045 and D10S1248 when compared to Angola, and at D22S1045 when compared to Guinea-Bissau. The MDS plot and neighbor-joining tree analysis revealed that Angolan and Guinean populations are genetically close to African-American and South African populations, and genetically different from Korean, Mexican, European (including American-Caucasian), and Middle Eastern populations.

     

Catalonian population study of the tetranucleotide repeat loci D3S1358, D8S1179, D18S51 and D19S253

Allele frequencies for four short tandem repeat loci were determined in a population sample from Catalonia (NE Spain). After denaturing PAGE electrophoresis, 8 alleles were identified for D3S1358 (n = 201), 10 alleles for D8S1179 (n = 198), 13 alleles for D18S51 (n = 197) and 11 alleles for D19S253 (n = 201). No deviation from Hardy-Weinberg equilibrium was found. Complete and relative uniformity in Caucasoid populations has been observed for D18S51 and D8S1179 respectively. Pronounced differences were found between different ethnic groups for both systems. Catalonia and Portugal do not differ for D3S1358 locus. Multiplex PCR amplifications of three loci (D3S1358, D18S51 and D19S253) without overlapping fragment size ranges could be interesting for monochrome automated laser fluorescence devices. Received: 15 January 1998 / Received in revised form: 20 April 1998     

DNA database of populations from different parts in the Kingdom of Thailand

The polymorphism of 15 short tandem repeat (STR) loci—D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA from AmpFlSTR^® Identifiler^® PCR amplification kit were analysed in 929 unrelated individuals living in the north, northeast, central and south of Thailand. The comparison between these four subpopulations demonstrated that subpopulations in the north and northeast were different in two loci from all paired groups while those in the north, central and south were closely related. The inter-population comparisons between combined Thai population and other ethnic groups including Eastern Chinese, Japanese, Iraq and Egyptian revealed that Eastern Chinese and Thai were closely related.     

Forensic parameters of 19 X-STR polymorphisms in two Chinese populations

Application of X-STRs as complements of autosomal STR application in the forensic genetics has become a tendency for kinship testing, especially in deficiency paternity cases. Recently, a novel kit of 19 X-STR loci was developed, which permitted the analysis of 19 STR in the same PCR reaction, and these markers can be clustered into seven groups for the physical linkage. The objective of this study was to evaluate the allele and haplotype diversity of 19 X-STR loci in the Uygur (n = 220) and Tibetan nationality (n = 270) and to estimate the usefulness for complex kinship analysis. In the Tibetan and Uygur populations, a total of alleles of all loci were 188 and 212, with the allele frequencies ranged from 0.0037 to 0.5593 and from 0.0045 to 0.5409, respectively. Compared with previous studies, DXS10135 was the most polymorphic locus in the two population groups, whereas the least variant locus was DXS10164 in the Uygur population and DXS7423 in the Tibetan nationality. Haplotype diversity obtained in this investigation was greater than 0.9 across all LGs. This study indicated the new kit could be used as a supplementary tool in kinship testing in China. In addition, the data sets can be used as supplementary national X-STR references to enlarge the database.

     

Population genetic data for ten miniSTR loci in the Sri Lankan population

Allele frequencies and forensically important parameters of ten autosomal miniSTR loci, D1S1677, D2S1776, D10S1248, D11S4463, D12SATA, D14S1434, D17S974, D18S853, D20S482, and D22S1045, were obtained for 278 unrelated adults from the Sri Lankan population. The combined power of discrimination and probability of exclusion was found to be 0.999999999621539 and 0.9979620, respectively. No significant deviations from Hardy–Weinberg equilibrium were observed except for D20S482 which conformed to HW expectations only after the application of a Bonferroni correction. The study suggests the potential use of these miniSTRs as a supplement or as a stand-alone STR marker system for the analysis of highly degraded evidence in Sri Lanka.

     

Genetic polymorphisms of 15 STR loci of Chinese Dongxiang and Salar ethnic minority living in Qinghai Province of China

Fifteen autosomal STRs loci were analyzed from two samples of 178 healthy unrelated autochthonous individuals of Chinese Dongxiang and Salar ethnic minority groups using a multiplex PCR system. Allele frequencies distribution and statistical parameters for all STR loci, D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA, were determined by the AmpFISTR Identifiler Kit. The observed genotype frequencies and expected of genotype frequencies were evaluated by chi(2)-test and the Fisher exact tests. chi(2)-test showed that the agreement with Hardy-Weinberg equilibrium (p>0.05) was for all studied STR loci of two populations. The data in the present study can be used greatly for routine forensic application in the region, and enrich Chinese ethnical genetic informational resources.     

Population data and mutation rates of 19 STR loci in seven provinces from China based on Goldeneye™ DNA ID System 20A

Short tandem repeat (STR) analysis is a primary tool in forensic casework. Population data and mutation rates of STRs are very important for paternity testing and forensic genetics. However, the population data and mutation rates of STRs in Han nationality based on large samples have still not been fully described in China. In this study, the allelic frequencies, forensic parameters, and mutation rate of 19 STR loci (D19S433, D5S818, D21S11, D18S51, D6S1043, D3S1358, D13S317, D7S820, D16S539, CSFIPO, PentaD, vWA, D8S1179, TPOX, Penta E, TH01, D12S391, D2S1338, and FGA) based on the Goldeneye™ DNA ID System 20A in Southern China Han nationality among seven provinces were investigated. Furthermore, population stratification of Southern China Han nationality among seven provinces was established. The multidimensional scaling (MDS) plot based on genetic distances (Fst) showed that the studied populations can be clustered into two major groups. However, relationships among populations were weak (Fst < 0.0043). A total of 376 cases of mutation were detected from the 19 selected loci in 15,396 meioses. The average mutation rate for the 19 loci was estimated to be 1.3 × 10⁻³ per meiosis. The mutation was mainly single step; the paternal mutation rate was higher than the maternal; and paternal mutation rate increases with paternal age.

     

Allele frequency data for 17 short tandem repeats in a Czech population sample

Allele frequencies for 17 short tandem repeats (STRs) autosomal loci (D2S1338, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11, CSF1PO, FGA, PentaD, PentaE, TH01, TPOX, vWA) were studied in an extensive sample (max. N = 1411) of unrelated individuals originating from the Czech Republic. Population and forensic parameters were estimated. Except for FGA and Penta E loci, no deviations from the Hardy–Weinberg equilibrium were detected. A comparative analysis with published data revealed significant differences in allele frequencies for some loci from the Polish population and three Hungarian populations (Ashkenazim population and Romany populations from Debrecen and Baranya County, respectively). A combination of these 17 STR loci provides a powerful tool for forensic identification in the native Czech population.     

Significant differences between Yemenite and Egyptian STR profiles and the influence on frequency estimations in Arabs

A population genetic study was performed on Yemenites using the set of nine short tandem repeat loci (STRs) D3S1358, VWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820. Analysis of the data revealed that all loci were in Hardy-Weinberg equilibrium and evidence of linkage equilibrium was found for only 1 out of 36 locus pairs. At seven loci the allelic distributions found in the Yemenite sample were significantly different from those found for an Arab population sample from Egypt. Nevertheless, we assume that the Yemenite database can be used for Arabs of unknown or foreign (non-Yemenite) origin in the absence of population-specific databases without exerting a significant bias on the biostatistical interpretation. In an experimental set-up (ethnic profile frequency ratio test), the impact of calculating multi-locus profile frequencies for foreign Arab individuals (Egyptians) using the Yemenite database instead of a region-specific one was negligible. Received: 14 November 1999 / Accepted: 5 April 2000     

Genetic analyzing of 15 STR loci in a Han population of Jinan (northern China)

This study reports the genetic polymorphic data of 15 autosomal STRs D3S1358, TH01, D21S11, D18S51, D5S818, D13S317, D7S820, D16S539, CSF1PO, vWA, D8S1179, TPOX, D2S1338, D19S433, and FGA observed in Han ethnic group living in Jinan, Shandong, China. The combined match probability and exclusion probability for 15 loci was 3.89 × 10⁻¹⁷ and 0.99997, respectively. No mutations at these loci were found in 78 pedigrees, and Chi-test of allelic frequencies in 420 unrelated samples showed no departure from Hardy-Weinberg equilibrium at these loci. The pairwise comparisons between Jinan and 41 reference populations were performed.     

Analysis of eight STR loci in two Hungarian populations

A multiplex reaction for the eight STR loci D3S1358, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820 was used to generate allele frequency databases for two Hungarian population samples, Caucasians from the Budapest area and Romanies from Baranya county. During the analysis two intermediate-sized alleles and a sequence variant allele were observed at the D7S820 locus. All three types of allelic variants were found to have modifications in the same block of a (T)₉ stretch located within the 3′ flanking region of each allele, which may indicate a possible higher mutation rate of this (T)₉ block. For the loci D3S1358 and D7S820 the Romany population database showed departures from Hardy-Weinberg equilibrium. The forensic efficiency values for the Romany population were slightly different from those found in the Hungarian Caucasian population. Comparing the allele frequency values by G-statistic, calculating the F_ST indices and with the pair-wise comparisons of inter-population variance, the two Hungarian populations could be distinguished using data from the eight STR loci. Received: 18 May 1999 / Received in revised form: 26 August 1999     

Allele frequencies of 17 autosomal STR loci in the Va ethnic minority from Yunnan Province,Southwest China

Allele frequencies and forensic parameters for 17 autosomal short tandem repeat (STR) loci were investigated from 1542 individuals of Va ethnic minority in Yunnan Province in the southwest of China. Also, genetic distances between Va and 13 published populations were compared, and a neighbor-joining (NJ) phylogenetic tree was developed and visualized using averaged F _ST matrix. Results demonstrate that these loci are highly polymorphic in the Va population and can be applied in forensic, population genetic, and linguistic fields.

     

Phylogenetic analysis among 27 Chinese populations and genetic polymorphisms of 20 autosomal STR loci in a Chinese Uyghur ethnic minority group

Allele frequency data and forensic statistical parameters were determined for 20 autosomal short tandem repeat (STR) loci of the PowerPlex 21 System in 214 unrelated healthy individuals of a Uyghur ethnic minority group living in Xinjiang province, northwest China. A total of 232 alleles were observed with the corresponding allele frequencies ranging from 0.0023 to 0.5304. All loci were consistent with Hardy–Weinberg equilibrium (HWE) after the Bonferroni correction (p > 0.0025). The combined probability of exclusion, power of discrimination, probability of matching value were 0.999999999, 0.9999999999999999999999995, and 4.78246 × 10^?25, respectively. Our results revealed that the 20 STRs were highly polymorphic and informative, and could be suitable for forensic application, especially parentage test and personal identification. The further population comparison between the Uyghur and other 26 reference populations revealed that the loci of D13S317, TH01 and D6S1043 showed high ethnical specificity. Phylogenetic analysis based on 19 shared loci demonstrated that the Uyghur had a close genetic relationship with the Kazakh, but a distinct genetic distance with other Chinese populations from different ethnicity and regions.     

Genetic variation of 15 autosomal short tandem repeat (STR) loci in the Palestinian population of Gaza Strip

Fifteen autosomal STR loci included in the PowerPlex^®16 System were typed in a population sample of 125 unrelated individuals from Palestinian population of Gaza Strip. Allele frequencies, Hardy–Weinberg equilibrium and forensic parameters were determined for the following loci: Penta E, D18S51, D21S11, TH01, D3S1358, FGA, TPOX, D8S1179, vWA, Penta D, CSF1PO, D16S539, D7S820, D13S317 and D5S818.     

15 STR loci frequencies in the population from Paraná, Southern Brazil

Allele frequencies for 15 short tandem repeats (STR) loci were obtained from a sample of 4076 unrelated individuals undergoing paternity testing. The population is from Paraná, Southern Brazil. The loci are the most commonly used in forensic and paternity testing, being analyzed by the AmpFlSTR^® Identifiler™ (Applied Biosystems) commercial kit. The most polymorphic loci were D2S1338 and D18S51. Excepting the D13S317, all loci were in Hardy–Weinberg equilibrium. Comparative analyses between our population data and other populations are presented.     

Genetic diversities of 21 non-CODIS autosomal STRs of a Chinese Tibetan ethnic minority group in Lhasa

In the present study, we investigated 21 short tandem repeat (STR) loci (D6S474, D12ATA63, D22S1045, D10S1248, D1S1677, D11S4463, D1S1627, D3S4529, D2S441, D6S1017, D4S2408, D19S433, D17S1301, D1GATA113, D18S853, D20S482, D14S1434, D9S1122, D2S1776, D10S1435, D5S2500), which are not included in the Combined DNA Index System and Amelogenin locus in 104 randomly selected healthy autochthonous individuals from the Tibetan ethnic minority group residing in the Lhasa region, Tibet Autonomous Region of China. Allelic frequencies, common forensic statistical parameters, and the Hardy–Weinberg equilibrium in this population were calculated with a modified PowerState V12.xls. A total of 143 alleles were found in the Tibetan group with corresponding allelic frequencies ranging from 0.005 to 0.582. The observed heterozygosity, the expected heterozygosity, the power of discrimination, the power of exclusion, and the polymorphic information content ranged from 0.615 to 0.817, 0.559 to 0.787, 0.727 to 0.926, 0.310 to 0.632, and 0.488 to 0.760, respectively. Chi-square tests of the observed genotype frequencies and expected genotype frequencies in the samples showed no departure from the Hardy–Weinberg equilibrium at all loci except for D5S2500. Our results demonstrate that these 21 STRs are highly polymorphic and suitable for anthropological research, population genetics, and forensic paternity testing and human individual identification in this region, and can enrich Chinese ethnical genetic informational resources.     

Population genetic data for 17 STR markers from Lebanon

Seventeen autosomal STRs were analyzed (D2S1338, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11, CSF1PO, FGA, TH01, TPOX, vWA, Penta D, and Penta E) in the Lebanese population. A total of 192 unrelated individuals were genotyped for the 15 autosomal STRs in the Promega PowerPlex 16 STR kit. An additional 275 unrelated individuals were genotyped for the Applied Biosystems AmpFlSTR Identifiler and SGM + STR kits. Allele frequencies for the shared CODIS 13 loci among the three STR kits tested were not significantly different among individuals within the Lebanese population. Forensic and population genetic parameters for the 17 loci were calculated. We also compared the allele frequencies from this population with other populations in the same geographic vicinity.