Fully Automated Localization and Measurement of Levator Hiatus Dimensions Using 3-D Pelvic Floor Ultrasound.

OBJECTIVE: To develop an algorithm for the automated localization and measurement of levator hiatus (LH) dimensions (AI-LH) using 3-D pelvic floor ultrasound. METHODS: The AI-LH included a 3-D plane regression model and a 2-D segmentation model, which first achieved automated localization of the minimal LH dimension plane (C-plane) and measurement of the hiatal area (HA) on maximum Valsalva on the rendered LH images, but not on the C-plane. The dataset included 600 volumetric data. We compared AI-LH with sonographer difference (ASD) as well as the inter-sonographer differences (IESD) in the testing dataset (n = 240). The assessment encompassed the mean absolute error (MAE) for the angle and center point distance of the C-plane, along with the Dice coefficient, MAE, and intra-class correlation coefficient (ICC) for HA, and included the time consumption. RESULTS: The MAE of the C-plane of ASD was 4.81 ± 2.47° with 1.92 ± 1.54 mm. AI-LH achieved a mean Dice coefficient of 0.93 for LH segmentation. The MAE on HA of ASD (1.44 ± 1.12 mm²) was lower than that of IESD (1.63 ± 1.58 mm²). The ICC on HA of ASD (0.964) was higher than that of IESD (0.949). The average time costs of AI-LH and manual measurement were 2.00 ± 0.22 s and 59.60 ± 2.63 s (t = 18.87, p < 0.01), respectively. CONCLUSION: AI-LH is accurate, reliable, and robust in the localization and measurement of LH dimensions, which can shorten the time cost, simplify the operation process, and have good value in clinical applications.

Rapid determination of furazolidone residues in animal foods by time-resolved fluorescence immunochromatography.

Although furazolidone (FZD) was completely banned from livestock production in many countries many years ago due to its mutagenicity and carcinogenicity, the abuse of FZD is still common today. Accurate and rapid detection of FZD residues in animal-derived food products is highly important for human health. Here, a time-resolved fluorescence immunochromatography (TRFI) test strip for rapid and quantitative detection of 3-amino-2-oxazolidinone (AOZ) residues in animal foods was developed and validated. Its limit of detection and limit of quantification were 0.05 and 0.14 µg/kg, respectively. The typical recovery rates were 95-105 % in chicken breast samples spiked with the AOZ standard substance at concentrations of 0.05-2 µg/kg, with a coefficient of variation value ≤8.5 %. The cross-reaction rates of the TRFI-AOZ test strips with 3-amino-5-morpholinomethyl-2-oxazolidone, semicarbazide, and 1-amino-imidazolidin-2,4-dione were less than 1 %. The newly developed TRFI test strip has high sensitivity, high specificity, cost effectiveness and user-friendly control, and is suitable for the rapid and large-scale screening of AOZ residues in animal foods.

Excessive addition split peak formed by the non-templated nucleotide addition property of Taq DNA polymerase after PCR amplification.

Because of its non-template addition feature, Taq DNA polymerase can catalyze one or more extra nucleotides onto the 3' terminus of PCR products. An extra peak is observed at DYS391 locus after the PCR products stored for 4 days at 4°C. To explore the formation mechanism of this artifact, PCR primers and amplicon sequences of Y-STR loci are analyzed, furthermore, PCR products storage conditions and termination of PCR are discussed. The extra peak is a + 2 addition product, which we call excessive addition split peak (EASP). The most significant difference between EASP and the incomplete addition of adenine product is that the size of EASP is about one base larger than the true allele, and the EASP locates on the right side of the real allelic peak. The EASP cannot be eliminated by increasing loading mixture volume and conducting heat denaturation prior to electrophoresis injection. However, the EASP is not observed when the PCR is terminated with ethylenediaminetetraacetic acid or formamide. These findings suggest that formation of EASP is a result of 3' end non-template extension by Taq DNA polymerase, rather than being the result of DNA fragment secondary structure produced under a suboptimal electrophoresis condition. In addition, the EASP formation is affected by the primer sequences and the storage conditions of PCR products.

Development of a time-resolved immunochromatographic strip for rapid and quantitative determination of deoxynivalenol.

Deoxynivalenol (DON) contamination of food crops and feeds is almost impossible to avoid completely; however, through best management practices, this risk can be effectively managed and maximumly mitigated. Accurate and rapid detection of DON contamination as early in the entire value chain as possible is critical. To achieve this goal, we developed a DON test strip based on time-resolved fluorescence immunoassay (TRFIA) and a specific DON monoclonal antibody for the rapid quantification of DON in food crops and feeds. The strip displayed a good linearity (R 2 = 0.9926), with a limit of quantification of 28.16 µg/kg, a wide linear range of 50 ~ 10,000 µg/kg. The intra-batch coefficient of variation (CV) and the inter-batch CV was <5.00 and 6.60%, respectively. This TRFIA-DON test strip was applied to detect DON in real samples, and the accuracy and reliability were confirmed by liquid chromatography-mass spectrometry (LC-MS/MS). Results showed that the relative standard deviation between the DON strips and LC-MS/MS was <9%. The recovery rates in corn samples ranged from 92 to 104%. The established TRFIA-DON test strip had the characteristics of high sensitivity, high accuracy, and a wide linear range which was suitable for rapid and quantitative determination of DON in food crops and feeds at both on-site and laboratory.

Genetic polymorphisms and phylogenetic analyses of the Ü-Tsang Tibetan from Lhasa based on 30 slowly and moderately mutated Y-STR loci.

As a result of the expansion of old Tibet on the Qinghai-Tibet Plateau, Tibetans diverged into three main branches, Ü-Tsang, Amdo, and Kham Tibetan. Ü-Tsang Tibetans are geographically distributed across the wide central and western portions of the Qinghai-Tibet Plateau while Lhasa is the central gathering place for Tibetan culture. The AGCU Y30, a 6-dye fluorescence kit including 30 slowly and moderately mutated Y-STR loci, has been validated for its stability and sensitivity in different biomaterials and diverse Chinese populations (Han and other minorities), and widely used in the practical work of forensic science. However, the 30 Y-STR profiling of Tibetan, especially for Ü-Tsang Tibetan, were insufficient. We utilized the AGCU Y30 to genotype 577 Ü-Tsang Tibetan unrelated males from Lhasa in the Tibet Autonomous Region of China to fill up the full and accurate Y-STR profiles. A total of 552 haplotypes were observed, 536 (97.10%) of which were unique. One hundred and ninety-four alleles were observed at 26 single copy loci and the allelic frequencies ranged from 0.0017 to 0.8180. For the two multi-copy loci DYS385a/b and DYS527a/b, 64 and 36 allelic combinations were observed, respectively. The gene diversity (GD) values ranged from 0.3079 at DYS391 to 0.9142 at DYS385a/b and the overall haplotype diversity (HD) was 0.9998, and its discrimination capacity (DC) was 0.9567. The population genetic analyses demonstrated that Lhasa Ü-Tsang Tibetan had close relationships with other Tibetan populations from Tibet and Qinghai, especially with Ü-Tsang Tibetan. From the perspective of Y haplogroups, the admixture of the southward Qiang people with dominant haplogroup O-M122 and the northward migrations of the initial settlers of East Asia with haplogroup D-M175 hinted the Sino-Tibetan homologous, thus, we could not ignore the gene flows with other Sino-Tibetan populations, especially for Han Chinese, to characterize the forensic genetic landscape of Tibetan.

Development and validation of a new multiplex Y-STR panel designed to increase the power of discrimination.

In an attempt to increase the discrimination capacity (DC) and reduce the adventitious match probability, a 6-dye multiplex Y-chromosomal short tandem repeat (Y-STR) panel named Y34plex was constructed that combined 25 Y-chromosomal markers (DYS456, DYS627, DYS390, DYS570, DYS635, DYS385a/b, DYS448, DYS437, DYS533, DYS449, DYS481, DYS392, DYS391, DYS389I, DYS460, YGATAH4, DYS438, DYS389II, DYS19, DYS458, DYF387S1a/b, DYS439, DYS393, DYS576, and DYS518) in widely used commercial kits, with nine highly polymorphic Y-STR loci (DYS557, DYS527a/b, DYS593, DYS444, DYS596, DYS643, DYS447, DYS549, and DYS645). The Y34plex is a promising type system to distinguish both unrelated and related male individuals due to the incorporation of rapidly mutated Y-STR loci. A validation study of the Y34plex was performed and followed the guidelines of the Scientific Working Group on DNA analysis methods. Results show that full Y-STR profiles were obtained from male/female DNA mixtures with 125 pg of male DNA in the presence of 50 ng of female DNA. The ability to tolerate polymerase chain reaction inhibitors commonly contained in forensic casework samples demonstrated the applicability and robustness of the Y34plex. Compared with the Yfiler Plus kit, the novel panel showed an increased power of discrimination in Chinese Wuxi Han population (n = 434). The overall haplotype diversity of the Y34plex was 0.999606, whereas DC value was 0.956221, which is suitable for use on forensic paternal investigation.

Developmental Validation of a Rapidly Mutating Y-STR Panel Labeled by Six Fluoresceins for Forensic Research.

The male-specific region of the human Y chromosome is a useful genetic marker for genealogical searching, male inheritance testing, and male DNA mixture deconvolution in forensic studies. However, the Y chromosomal short tandem repeats (Y-STRs) are difficult to distinguish among related males due to their low/medium mutation rate. In contrast, rapidly mutating (RM) Y-STRs exhibit unusually high mutation rates and possess great potential for differentiating male lineages. In this study, we developed a novel Y-STRs multiplex amplification assay of 32 RM Y-STRs by fragment analysis using six dye-labeled technologies (FAM, HEX, TAMRA, ROX, VIG, and SIZ). The development and the validation of the kit were carried out in accordance with the Scientific Working Group guidelines on DNA Analysis Methods. Identical allelic profiles of the 32 RM Y-STRs using a DNA 9948 sample as the positive control could be observed at different concentrations of PCR reagents. Further, the RM Y-STRs did not show cross-reactions with other common animal species, and the developed assay could tolerate interferences from common PCR inhibitors and mixed DNA samples. More importantly, the kit showed relatively high sensitivity and could detect trace DNA samples. Genetic distributions of 32 RM Y-STRs in the Guizhou Han population revealed that these RM Y-STRs showed relatively high genetic diversities. In conclusion, the RM Y-STR assay developed here showed good species specificity, high sensitivity, tolerance to inhibitors, and sample compatibility, which can be viewed as a highly efficient tool with high discrimination capacity for forensic male differentiation.

Haplotype diversity and phylogenetic relationship analysis of Chinese Yulin Han population using 59 Y-STR loci of two novel Y-STR typing systems.

To investigate the genetic polymorphisms of 59 Y-chromosomal short tandem repeat (Y-STR) loci in the Yulin Han population, 229 unrelated healthy male individuals were analyzed using AGCU Y37 kit and AGCU Y-SUPP Plus kit. A total of 227 different haplotypes were obtained at the 59 Y-STR loci. Among them, 225 haplotypes were unique and 2 haplotypes occurred twice. The overall haplotypic diversity and discrimination capacity were 0.9999 and 0.9913, respectively. The phylogenetic relationships between the studied Yulin Han population and 17 previously reported reference populations were evaluated via multidimensional scaling and Neighbor-Joining analyses based on the haplotypic frequencies of 'YHRD Maximal Loci'. Phylogenetic analysis revealed that Yulin Han population was closely related to Chinese Han and Hunan Yao populations. These results demonstrated that the 59 Y-STR loci were useful for forensic applications and population genetic studies.

Development and Performance Evaluation of a Novel Ancestry Informative DIP Panel for Continental Origin Inference.

Ancestry informative markers (AIMs) are useful to infer individual biogeographical ancestry and to estimate admixture proportions of admixed populations or individuals. Although a growing number of AIM panels for forensic ancestry origin analyses were developed, they may not efficiently infer the ancestry origins of most populations in China. In this study, a set of 52 ancestry informative deletion/insertion polymorphisms (AIDIPs) were selected with the aim of effectively differentiate continental and partial Chinese populations. All of the selected markers were successfully incorporated into a single multiplex PCR panel, which could be conveniently and efficiently detected on capillary electrophoresis platforms. Genetic distributions of the same 50 AIDIPs in different continental populations revealed that most loci showed high genetic differentiations between East Asian populations and other continental populations. Population genetic analyses of different continental populations indicated that these 50 AIDIPs could clearly discriminate East Asian, European, and African populations. In addition, the 52 AIDIPs also exhibited relatively high cumulative discrimination power in the Eastern Han population, which could be used as a supplementary tool for forensic investigation. Furthermore, the Eastern Han population showed close genetic relationships with East Asian populations and high ancestral components from East Asian populations. In the future, we need to investigate genetic distributions of these 52 AIDIPs in Chinese Han populations in different regions and other ethnic groups, and further evaluate the power of these loci to differentiate different Chinese populations.

Ancestry inference and admixture component estimations of Chinese Kazak group based on 165 AIM-SNPs via NGS platform.

Predicting the biogeographical ancestries of populations and unknown individuals based on ancestry-informative markers (AIMs) has been widely applied in providing DNA clues to criminal investigations, correcting the factor of population stratification in genome-wide association studies (GWAS), and working as the basis of predicting the externally visible characteristics (EVCs) of individuals. The present study chose Chinese Xinjiang Kazak (XJK) group as research object using a 165 AIM-SNPs panel via next generation sequencing (NGS) technology to reveal its ancestral information and genetic background by referencing the populations' data from 1000 Genomes Phase 3. After the Bonferroni correction, there were no significant deviations at the 165 AIM-SNP loci except two loci with homozygote in the studied XJK group. Ancestry information inference and populations genetic analyses were conducted basing on multiplex statistical methods such as forensic statistical parameter analyses, estimation of the success ratios with cross-validation, population tree, principal component analysis (PCA), and genetic structure analysis. The present results revealed that XJK group had the admixed ancestral components of East Asian and European populations with the ratio of about 62:37.

Detection and analysis of the cause of false-tetra-allelic patterns of locus D10S1435 at the sequence level.

A number of artifacts produced in forensic DNA typing make the interpretation more complicated and even lead to typing errors. Here, we reported the cause of false-tetra-allelic patterns of STR locus D10S1435 at the sequence level. To confirm the true genotyping, the sample with four allelic peaks was re-amplified and sequenced. The amplicon sequences of D10S1435, D20S482, D6S1017, and D10S1248 loci were analyzed by software BioXM and RNAstructure. We successfully reproduced the four-peak phenomenon by adding various concentration of magnesium chloride into the loading mixtures to simulate the suboptimal electrophoresis conditions. The false four allelic peaks may be caused by the specific nucleotide sequence of locus D10S1435 which tends to form secondary structures under the suboptimal electrophoresis conditions. The relatively high GC content and extremely uneven distribution give the amplicon a potency to resist complete denaturation at the phase of sample preparation and a tendency to form intra- and intermolecular secondary structures during post-injection.

Genetic analysis of 50 Y-STR loci in Dong, Miao, Tujia, and Yao populations from Hunan.

To investigate the genetic polymorphism of Y chromosome short tandem repeat (Y-STR) loci in Dong, Miao, Tujia, and Yao minority populations from Hunan Province, China. Fifty Y-STRs (DYS392, DYS389I/II, DYS447, DYS438, DYS527, DYS645, DYS596, DYS391, DYS456, DYS19, DYS593, DYS448, DYS627, DYS557, DYS437, DYS481, DYS533, DYS390, DYS385, DYF387S1, DYS460, DYS393, Y_GATA_H4, DYS439, DYS635, DYS444, DYS643, DYS549, DYS576, DYS570, DYS458, DYS449, DYS518, DYS531, DYS630, DYS622, DYS552, DYS510, DYS459a/b, DYS446, DYS443, DYS587, Y_GATA_A10, DYS520, DYS522) were analyzed for 2553 unrelated healthy male individuals from Hunan (643 Dong males, 666 Miao males, 633 Tujia males, 611 Yao males) using AGCU Y37 and AGCU Y SUPP STR amplification system. There were 624 different haplotypes in 643 unrelated Dong males, 662 in 666 unrelated Miao males, 627 in 633 unrelated Tujia males, and 587 in 611 unrelated Yao males. The haplotype diversities of Dong, Miao, Tujia, and Yao were determined as 0.999879, 0.999982, 0.999970, and 0.999860, respectively. Analysis of molecular variance (AMOVA) tests demonstrated that genetic distance between Miao and Tujia was the smallest (0.0003), while the genetic distance between Dong and Yao was the largest (0.0252). The 50 Y-STR loci in the four minority populations from Hunan Province revealed a highly polymorphic genetic distribution, which showed a high potential for population genetics and forensic practice.

Forensic characteristics and genetic affinity analyses of Xinjiang Mongolian group using a novel six fluorescent dye-labeled typing system including 41 Y-STRs and 3 Y-InDels.

BACKGROUND: Y-chromosomal genetic marker haplotypes of individuals can define the paternal kinship or genealogies to which they belong and further provide clues for forensic individual identifications. Studying the genetic structure of the Mongolian group will help to bring to light the Mongolian ethnic origin, and explicate the genetic affinities among the studied and compared populations. Some forensic scientists have studied the genetic background of the Mongolian group based on different molecular genetic markers. These studies were of very great reference significance for the Mongolian group genetic research, whereas the investigation of Y-STR haplotype data in the Xinjiang Mongolian group is still insufficient. METHODS: Genetic characteristics of 182 unrelated healthy male Mongolian individuals were revealed by 41 Y-chromosomal short tandem repeat and 3 insertion/deletion molecular genetic markers. Furthermore, analyses of molecular variance programs, multi-dimensional scaling plots, and phylogenetic tree reconstructions were operated to explore the genetic relationships of the Xinjiang Mongolian group with comparative 23 populations from China and 33 populations from worldwide nations. RESULTS: The genetic diversity values ranged from 0.0641 (rs771783753) to 0.9502 (DYF387S1). A total of 165 distinct haplotypes were identified, of which 150 (90.91%) were unique. The discrimination capacity, match probability, and haplotype diversity of 44 loci were 0.9066, 0.0067, and 0.9988, respectively. Additionally, the Mongolian group had the most intimate relationship with Gansu Dongxiang (RST  = 0.0165), followed by HulunBuir Mongolian (RST  = 0.0187), Inner Mongolia Daur (RST  = 0.0202) as well as other three minority ethnic groups from the Xinjiang region (RST  < 0.05) in all compared Chinese populations, and clustered together with the majority of Asian populations in a worldwide scale. CONCLUSIONS: Consequently, the 44 loci could be well applied in forensic applications of the Mongolian group. The haplotypes available in here made new contributions to the existing population genetic information and would be of great value in population studies.

The validation study of a novel assay with 30 slow and moderate mutation Y-STR markers for criminal investigation and database applications.

The Y chromosome short tandem repeat (Y-STR) haplotyping method has been widely used in forensic applications. However, the existing Y-STR panels are not the ideal tools for criminal investigation and database applications because of their relatively low discriminatory capacity (DC) or high mutation rates. In the present study, the multiplex PCR assay (AGCU Y30) for simultaneous amplification of 30 slowly and moderately mutated Y-STR loci labeled by 6-dye fluorescence was developed and validated. The AGCU Y30 assay was capable of amplification purified DNA from casework and database samples on FTA™ cards in direct amplification module with a 10 µL reaction volume. Furthermore, the genetic diversities and forensic parameters of AGCU Y30 were performed using 719 unrelated male samples, demonstrating its high level of genetic polymorphisms and DC in Nantong Han population. This validation study demonstrated good sensitivity, mixture samples, inhibitor tolerance, precision, and concordance for the AGCU Y30, which is suitable for forensic investigation and database construction.

Multiple genetic analyses to investigate the polymorphisms of Chinese Mongolian population with an efficient short tandem repeat panel.

AIM: To determine allele frequencies and forensic statistics of 22 autosomal short tandem repeat loci in Chinese Mongolian population. METHODS: Blood specimens were collected from 134 unrelated healthy Mongolian individuals, and 22 short tandem repeat loci were co-amplified and genotyped. Allele frequencies and forensic parameters were calculated, and population genetic differences were analyzed among Mongolian population and other eight Chinese populations: Northern Han, Guangdong Han, Chengdu Han, Xinjiang Hui, Xinjiang Uygur, Hainan Li, Qinghai Tibetan, and Hainan Han. RESULTS: All the loci were in the Hardy-Weinberg equilibrium, and after Bonferroni correction there was no linkage disequilibrium between them. The allele frequencies of these 22 loci were between 0.0037 and 0.3657. This panel had high discriminating power and genetic polymorphism in the Mongolian population, with combined power of discrimination of 0.999999999999999999999999998399 and combined probability of exclusion of 0.9999999999566925. Structure analysis showed no evidence that these nine Chinese populations had different component distribution. However, genetic distance analysis showed significant differences among them (P<0.05). CONCLUSION: The combined application of these 22 loci could be useful for forensic purposes in the Mongolian population. Mongolian population had smaller genetic distances from the populations in northern China (Northern Han, Xinjiang Uygur, and Xinjiang Hui) than from the populations in Hainan province (Hainan Han and Hainan Li populations).

Population Genetic Diversity and Clustering Analysis for Chinese Dongxiang Group With 30 Autosomal InDel Loci Simultaneously Analyzed.

In comparison with the most preferred genetic marker utilized in forensic science (STR), insertion/deletion analysis possesses further benefits, like absence of stutter peak, low mutation rate, and enabling mixed stain analysis. At present, a total of 169 unrelated healthy Dongxiang individuals dwelling in Dongxiang Autonomous county of Gansu province were recruited in our study to appraise the forensic usefulness of the panel including 30 autosomal diallelic genetic markers. The insertion allele frequencies were in the range of 0.1598 at HLD 111 to 0.8550 at HLD 118. The cumulative match of probability and the combined probability of exclusion were estimated based on independence of pairwise loci, with the values of 3.96 × 10-11 and 0.9886, respectively, which showed tremendous potential of this panel to be qualified for forensic personal identification in Chinese Dongxiang group. And it could also be used as a complementary tool for forensic parentage testing when combined with standard STR genetic markers. Furthermore, calculation of the DA distance and Fst values of pairwise populations, phylogenetic reconstruction, multidimensional scaling analysis, structure clustering analysis were also conducted to probe the genetic relationships between Dongxiang group and the other 30 reference populations. Results demonstrated that Dongxiang ethnic group might be genetically closer related with most Chinese populations involved in our study, especially Tibet groups, Xibe group, and several Han populations.

Mutability analysis towards 21 STR loci included in the AGCU 21 + 1 kit in Chinese Han population.

To further illustrate the mutation traits of 21 autosomal STR loci involved in the newly developed AGCU 21 + 1 kit, randomly selected 485 trios were focused on. We have previously confirmed the biological father-mother-child relationships of these trios. Then matters of mutation rates, steps, and origins of the 21 STR loci were statically analyzed. Results showed 35 mutation events occurred at 16 STR loci of the panel during 20,370 meiosis, and the locus-specific mutation rates ranged from 0.000 to 1.134% (D3S4529), with an overall mutation rate of 1.72 × 10-3 (95%CI, 1.20-2.39 × 10-3). Mutation origins exhibited slight discrepancy between male and female germlines, 18 of the 35 mutation events were verified to be contributed by fathers and 13 by mothers, with origins of the remaining 4 events hardly to be assigned. Furthermore, 77.14% of the mutations were one-step mutation. Currently, portraits on mutability of the STR loci involved in the AGCU 21 + 1 panel were barely reported. In view of this, we conclude our data will enrich the mutation information of the 21 STR loci and provide valuable suggestions in calculating likelihood ratios for mutation-involved parental testing cases.

A set of autosomal multiple InDel markers for forensic application and population genetic analysis in the Chinese Xinjiang Hui group.

In recent years, insertion/deletion (InDel) markers have become a promising and useful supporting tool in forensic identification cases and biogeographic research field. In this study, 30 InDel loci were explored to reveal the genetic diversities and genetic relationships between Chinese Xinjiang Hui group and the 25 previously reported populations using various biostatistics methods such as forensic statistical parameter analysis, phylogenetic reconstruction, multi-dimensional scaling, principal component analysis, and STRUCTURE analysis. No deviations from Hardy-Weinberg equilibrium tests were found at all 30 loci in the Chinese Xinjiang Hui group. The observed heterozygosity and expected heterozygosity ranged from 0.1971 (HLD118) to 0.5092 (HLD92), 0.2222 (HLD118) to 0.5000 (HLD6), respectively. The cumulative probability of exclusion and combined power of discrimination were 0.988849 and 0.99999999999378, respectively, which indicated that these 30 loci could be qualified for personal identification and used as complementary genetic markers for paternity tests in forensic cases. The results of present research based on the different methods of population genetic analysis revealed that the Chinese Xinjiang Hui group had close relationships with most Chinese groups, especially Han populations. In spite of this, for a better understanding of genetic background of the Chinese Xinjiang Hui group, more molecular genetic markers such as ancestry informative markers, single nucleotide polymorphisms (SNPs), and copy number variations will be conducted in future studies.

Forensic molecular genetic diversity analysis of Chinese Hui ethnic group based on a novel STR panel.

In present study, the genetic polymorphisms of 22 autosomal short tandem repeat (STR) loci were analyzed in 496 unrelated Chinese Xinjiang Hui individuals. These autosomal STR loci were multiplex amplified and genotyped based on a novel STR panel. There were 246 observed alleles with the allele frequencies ranging from 0.0010 to 0.3609. All polymorphic information content values were higher than 0.7. The combined power of discrimination and the combined probability of exclusion were 0.999999999999999999999999999426766 and 0.999999999860491, respectively. Based on analysis of molecular variance method, genetic differentiation analysis between the Xinjiang Hui and other reported groups were conducted at these 22 loci. The results indicated that there were no significant differences in statistics between Hui group and Northern Han group (including Han groups from Hebei, Henan, Shaanxi provinces), and significant deviations with Southern Han group (including those from Guangdong, Guangxi provinces) at 7 loci, and Uygur group at 10 loci. To sum up, these 22 autosomal STR loci were high genetic polymorphic in Xinjiang Hui group.

Genetic structure and polymorphism analysis of Xinjiang Hui ethnic minority based on 21 STRs.

In the present study, we calculated the allelic frequencies and forensic descriptive parameters of Hui ethnic minority on the basis of 21 short tandem repeat (STR) loci aiming at understanding population structure better and enriching population genetic database. Bloodstain samples of 506 unrelated healthy Hui individuals in Xinjiang Uygur Autonomous Region were collected. Altogether 268 alleles were observed and the allelic frequencies ranged from 0.0010 to 0.5306. The combined power of discrimination and the cumulative probability of exclusion of the 21 STR loci in Hui ethnic minority were 0.9999999999999999999999998697 and 0.9999999968, respectively. Population data obtained manifested that the panel of 21 STR loci could provide robust genetic information for individual identification and paternity testing involved in forensic applications for Huis of Xinjiang Region. Furthermore, the present results of interpopulation differentiations, phylogenetic trees and principal component analysis which were conducted based on the overlapping 16 STR loci revealed that Hui group was genetically close to Xibe ethnic group and Han populations from different regions.