Wen-Juan Liu

Genetic data provided by 21 autosomal STR loci from Chinese Tujia ethnic group

The aim of this study was to investigate allelic frequency distribution and forensic genetic parameters of autosomal short tandem repeats (STR) loci of the population samples from 107 Tujia individuals from Chinese Hubei Province. Twenty-one autosomal STR genetic markers (D9S1122, D6S474, D6S1017, D5S2500, D4S2408, D3S4529, D2S441, D2S1776, D22S1045, D20S482, D1S1677, D1S1627, D1GATA113, D19S433, D18S853, D17S1301, D11S4463, D12ATA63, D10S1248, D10S1435 and D14S1434) were simultaneously amplified in a new multiplex polymerase chain reaction system. 155 alleles for all the STR loci from the Tujia population were observed and the corresponding allelic frequencies ranged from 0.005 to 0.589. Expected heterozygosity, polymorphic information content, power of discrimination and power of exclusion of the 21 STR loci in the Tujia population were from 0.579 to 0.824, from 0.525 to 0.802, from 0.773 to 0.945 and from 0.257 to 0.641, respectively. Our results indicate that the autosomal STRs multiplex system provides highly informative STR data and could be useful in forensic individual identification and parentage testing in this region.

Allelic polymorphic investigation of 21 autosomal short tandem repeat loci in a Chinese Bai ethnic group

Population genetic data of 21 autosomal short tandem repeats (STRs) were obtained in a sample of 106 unrelated healthy individuals of Bai ethnic minority born in the Dali Bai Autonomous Prefecture in Yunnan Province. We observed 138 alleles with corresponding allelic frequencies ranging from 0.005 to 0.575. The genotypic frequency distributions at those STR loci were consistent with Hardy-Weinberg equilibrium (Bonferronis correction was used for Hardy-Weinberg equilibrium tests). The combined probability of exclusion, power of discrimination, probability of matching value for all 21 STR loci were 0.9999975729, 0.999999999999999999872 and 1.28×10(-19), respectively. The population data in this study showed significant differences from the previously published population data of Tibetan and Salar groups in some loci.

Allelic frequency distributions of 21 non-combined DNA index system STR loci in a Russian ethnic minority group from Inner Mongolia, China.

We studied the allelic frequency distributions and statistical forensic parameters of 21 new short tandem repeat (STR) loci and the amelogenin locus, which are not included in the combined DNA index system (CODIS), in a Russian ethnic minority group from the Inner Mongolia Autonomous Region, China. A total of 114 bloodstain samples from unrelated individuals were extracted and co-amplified with four fluorescence-labeled primers in a multiplex polymerase chain reaction (PCR) system. Using capillary electrophoresis, the PCR products of the 21 STR loci were separated and genotyped. A total of 161 alleles were observed in the Russian ethnic minority group, and corresponding allelic frequencies ranged from 0.0044 to 0.5965. The 21 non-CODIS STR loci of the Russian ethnic minority group were characterized by high genetic diversity and therefore may be useful for elucidating the population’s genetic background, for individual identification, and for paternity testing in forensic practice.

Developmental validation of the AGCU 21+1 STR kit: A novel multiplex assay for forensic application

In this study, we describe the developmental validation assay performed on a novel designed STR multiplex system, AGCU 21+1 STR kit. This kit contains a sex‐determining locus amelogenin and 21 noncombined DNA index system STR loci, that are, D6S474, D12ATA63, D22S1045, D10S1248, D1S1677, D11S4463, D1S1627, D3S4529, D2S441, D6S1017, D4S2408, D19S433, D17S1301, D1GATA113, D18S853, D20S482, D14S1434, D9S1122, D2S1776, D10S1435, and D5S2500. The 21+1 kit was validated by a series of tests including optimized PCR conditions, sensitivity, precision and accuracy, stutter ratio, DNA mixture, inhibitors, and species specificity according to the revised validation guidelines issued by the Scientific Working Group on DNA Analysis Methods (SWGDAM). Our results in this study show that the kit is a useful tool for forensic application.

Genetic profile characterization and population study of 21 autosomal STR in Chinese Kazak ethnic minority group

Short tandem repeat loci have been recognized as useful tools in the routine forensic application and in recent decades, more and more new short tandem repeat (STR) loci have been constantly discovered, studied, and applied in forensic caseworks. In this study, we investigated the genetic polymorphisms of 21 STR loci in the Kazak ethnic minority as well as the genetic relationships between the Kazak ethnic minority and other populations. Allelic frequencies of 21 STR loci were obtained from 114 unrelated healthy Kazak individuals in the Ili Kazak Autonomous Prefecture, Xinjiang Uigur Autonomous Region of China. We observed a total of 159 alleles in the group with the allelic diversity values ranging from 0.0044 to 0.5088. The highest polymorphism was found at D19S433 locus and the lowest was found at D1S1627. Statistical analysis of the generated data indicated no deviation from Hardy–Weinberg equilibriums at all 21 STR loci. In order to estimate the population differentiation, allelic frequencies of all STR loci of the Kazak were compared with those of other neighboring populations using analysis of molecular variance method. Statistically significant differences were found between the studied population and other populations at 2–7 STR loci. A neighbor‐joining tree was constructed based on allelic frequencies of the 21 STR loci and phylogenetic analysis indicates that the Kazak has a close genetic relationship with the Uigur ethnic group. The present results may provide useful information for forensic sciences and population genetics studies, and can also increase our understanding of the genetic background of this group. The present findings showed that all the 21 STR loci are highly genetically polymorphic in the Kazak group, which provided valuable population genetic data for the genetic information study, forensic human individual identification, and paternity tests.

Genetic polymorphism analyses of 30 InDels in Chinese Xibe ethnic group and its population genetic differentiations with other groups

In the present study, we obtained population genetic data and forensic parameters of 30 InDel loci in Chinese Xibe ethnic group from northwestern China and studied the genetic relationships between the studied Xibe group and other reference groups. The observed heterozygosities ranged from 0.1704 at HLD118 locus to 0.5247 at HLD92 locus while the expected heterozygosities ranged from 0.1559 at HLD118 locus to 0.4997 at HLD101 locus. The cumulative power of exclusion and total probability of discrimination power in the studied group were 0.9867 and 0.9999999999902 for the 30 loci, respectively. Analyses of structure, PCA, interpopulation differentiations and phylogenetic tree revealed that the Xibe group had close genetic relationships with South Korean, Beijing Han and Guangdong Han groups. The results indicated that these 30 loci should only be used as a complement for autosomal STRs in paternity cases but could provide an acceptable level of discrimination in forensic identification cases in the studied Xibe group. Further studies should be conducted for better understanding of the Xibe genetic background.

Genetic Variability and Phylogenetic Analysis of Han Population from Guanzhong Region of China based on 21 non-CODIS STR Loci

In the present study, we presented the population genetic data and their forensic parameters of 21 non-CODIS autosomal STR loci in Chinese Guanzhong Han population. A total of 166 alleles were observed with corresponding allelic frequencies ranging from 0.0018 to 0.5564. No STR locus was observed to deviate from the Hardy-Weinberg equilibrium and linkage disequilibriums after applying Bonferroni correction. The cumulative power of discrimination and probability of exclusion of all the 21 STR loci were 0.99999999999999999993814 and 0.999998184, respectively. The results of genetic distances, phylogenetic trees and principal component analysis revealed that the Guanzhong Han population had a closer relationship with Ningxia Han, Tujia and Bai groups than other populations tested. In summary, these 21 STR loci showed a high level of genetic polymorphisms for the Guanzhong Han population and could be used for forensic applications and the studies of population genetics.

Population genetics and forensic efficiency of twenty-one novel microsatellite loci of Chinese Yi ethnic group

In this study, we investigated polymorphic distributions of allelic frequencies and forensic genetic parameters of 21 novel autosomal microsatellite loci from 110 unrelated healthy individuals of Chinese Yi ethnic group. Expected heterozygosity, power of discrimination, and polymorphic information content ranged from 0.617 to 0.812, 0.777 to 0.936 and 0.560 to 0.790. The microsatellite loci showed high forensic efficiency. The total discrimination power and cumulate probability of exclusion were 0.99999999999999999986902 and 0.999998818, respectively. Locus‐by‐locus allelic frequencies were compared using analysis of molecular variance (AMOVA) method, and the statistically significant differences were observed between Yi group and Russian, Tujia, Kazak, Bai, Ningxia Han, Salar, Tibetan, and Uigur groups at 5, 6, 7, 7, 7, 8, 12, and 13 loci, respectively. The results of genetic distance comparisons, genetic structure analyses, and principal component analysis all indicated that the Yi group showed relatively short genetic relationships with Russian, Salar, and Bai group. The experimental results showed that the 21 loci in the multiplex system provided highly polymorphic information and forensic efficiency for forensic individual identification and paternity testing, also basic population data for population genetics and anthropological research.

Genetic diversities of 20 novel autosomal STRs in Chinese Xibe ethnic group and its genetic relationships with neighboring populations.

In the present study, we investigated the genetic polymorphisms of 20 novel STR loci and one previously studied locus in the Xibe ethnic group from China, as well as its genetic relationships with neighboring populations. Totally 226 unrelated healthy Xibe individuals were involved in the study. At least 5 alleles were observed for each locus, with the minimum and maximum allelic frequencies of 0.0022 and 0.5221, respectively. We obtained the lowest and highest observed heterozygosity and expected heterozygosity at locus D1S1627 and D19S433, respectively. The values of combined power of discrimination and probability of exclusion of all the 21 STR loci were 0.99999999999999999997310 and 0.999998650, respectively. Analyses of interpopulation differentiation, principal component analysis, genetic distance and phylogenetic tree revealed the relationships between Xibe group and its neighboring groups, showing that the studied Xibe group had a close genetic relationship with the Mongolian group. The present results indicated that these 21 STR loci had high genetic polymorphisms in the studied Xibe group, and were capable for the paternity testing and individual identification in forensic application.

Polymorphic analysis of 21 new STR loci in Chinese Uigur group

There are STR database of Chinese Uigur ethnic minority in the different regions which have been set up for the extension of the loci covered in AmpFLSTR Identifiler and PowerPlex 16 kits. At present, there is no previous publication available on the genetic polymorphisms of this 21 new non-CODIS STR loci. Here, we present the allele frequencies and forensic efficiency data for D6S474, D12ATA63, D22S1045, D10S1248, D1S1677, D11S4463, D1S1627, D3S4529, D2S441, D6S1017, D4S2408, D19S433, D17S1301, D1GATA113, D18S853, D20S482, D14S1434, D9S1122, D2S1776, D10S1435 and D5S2500 loci. The STR data in this Uigur group were compared with the previously published population STR data from other ethnics or areas. The Uigur ethnic minority believes in Islam and has its own language which belongs to the Uigur Turkic branch of the Turkic language family and has two written languages based on Arabian letters or on Latin letters. Informed consents were received from all participants in Yining city, Xinjiang Uigur Autonomous Region and the study was approved by the Human Research Ethics Committee at the School of Medicine, Xi’an Jiaotong University. Genomic DNA was extracted from blood samples obtained from 218 unrelated Chinese Uigur individuals using the Chelex-100 protocol [1]. Multiplex PCR of the AGCU 21+1 amplification reagent was achieved in 25 ml reaction mixture containing 0.5–2 ng of template DNA, 0.5 ml of HS-Taq DNA polymerase, fluorescent labeled specific primers and buffers using the AGCU 21+1 fluorescence amplification reagents (AGCU ScienTech Incorporation, Wuxi, Jiangsu, China). Thermal cycling was performed in accordance with the manufacturer’s instructions for 28 cycles in the GeneAmp 9700 PCR system (Applied Biosystems, Foster City, CA, USA). The analysis of the amplified PCR product was performed on the ABI 3130 Genetic Analyzer (Applied Biosystems, Foster City, USA). The raw STR data and allele identification were analyzed with GenemapperID version 3.2 (Applied Biosystems, Foster City, USA). According to the number of repeat units present as recommended by the DNA Commission of the Society for Forensic Genetics [2]. DNA extraction, PCR amplification, GeneScan, and Genotyping were carried out according to the Laboratory internal control standards, recommendation published by the Paternity Testing Commission of the International Society for Forensic Genetics [3] and kit controls. Calculations of allele frequencies, polymorphic information content (PIC), matching probability (MP), power of discrimination (PD), power of exclusion (PE), typical paternity index (PI), homozygotes (HO) and Hardy–Weinberg equilibrium (HWE) were calculated using the modified PowerStat ver 1.2 spreadsheet