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Comprehensive Insights Into Forensic Features and Genetic Background of Chinese Northwest Hui Group Using Six Distinct Categories of 231 Molecular Markers

ABSTRACT: The Hui minority is predominantly composed of Chinese-speaking Islamic adherents distributed throughout China, of which the individuals are mainly concentrated in Northwest China. In the present study, we employed the length and sequence polymorphisms-based typing system of 231 molecular markers, i.e., amelogenin, 22 phenotypic-informative single nucleotide polymorphisms (PISNPs), 94 identity-informative single nucleotide polymorphisms (IISNPs), 24 Y-chromosomal short tandem repeats (Y-STRs), 56 ancestry-informative single nucleotide polymorphisms (AISNPs), 7 X-chromosomal short tandem repeats (X-STRs), and 27 autosomal short tandem repeats (A-STRs), into 90 unrelated male individuals from the Chinese Northwest Hui group to comprehensively explore its forensic characteristics and genetic background. Total of 451 length-based and 652 sequence-based distinct alleles were identified from 58 short tandem repeats (STRs) in 90 unrelated Northwest Hui individuals, denoting that the sequence-based genetic markers could pronouncedly provide more genetic information than length-based markers. The forensic characteristics and efficiencies of STRs and IISNPs were estimated, both of which externalized high polymorphisms in the Northwest Hui group and could be further utilized in forensic investigations. No significant departure from the Hardy–Weinberg equilibrium (HWE) expectation was observed after the Bonferroni correction. Additionally, four group sets of reference population data were exploited to dissect the genetic background of the Northwest Hui group separately from different perspectives, which contained 26 populations for 93 IISNPs, 58 populations for 17 Y-STRs, 26 populations for 55 AISNPs (raw data), and 109 populations for 55 AISNPs (allele frequencies). As a result, the analyses based on the Y-STRs indicated that the Northwest Hui group primarily exhibited intimate genetic relationships with reference Hui groups from Chinese different regions except for the Sichuan Hui group and secondarily displayed close genetic relationships with populations from Central and West Asia, as well as several Chinese groups. However, the AISNP analyses demonstrated that the Northwest Hui group shared more intimate relationships with current East Asian populations apart from reference Hui group, harboring the large proportion of ancestral component contributed by East Asia.

SUBMITTER: Chen C

PROVIDER: S-EPMC8555763 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BackgroundShort tandem repeat (STR) markers play a significant role in genetic applications and have proved to be effective for the personal identification in forensic medicine. In this study, a six-dye multiplex composed of 23 autosomal STR loci (TH01, D3S1358, Penta D, D6S1043, D21S11, TPOX, D1S1656, D12S391, Penta E, D10S1248, D22S1045, D19S433, D8S1179, D2S1338, D2S441, D18S51, vWA, FGA, D16S539, CSF1PO, D13S317, D5S818, D7S820), one Y chromosome STR (DYS391), two internal quality control markers (Quality Sensor QS1 and QS2), and Amelogenin was evaluated.MethodsEvaluation studies, including PCR-based studies, sensitivity studies, species specificity studies, stability studies, DNA mixture studies, concordance studies, and precision evaluations were performed according to the guidelines of "Validation Guidelines for Forensic DNA Analysis Methods (2016)" by the Scientific Working Group on DNA Analysis Methods (SWGDAM). In addition, the forensic characteristics of 357 unrelated male samples from Han and Hui populations in China were investigated using 27 markers.ResultsFull STR profiles were obtained from different reaction volumes (5 ~ 25 μl), cycle numbers (28 ~ 34 cycles) and annealing temperatures (58 ~ 62°C). All STR profiles were obtained at humic acid concentration of up to 200 ng/μl and hematin concentration of up to 500 μM. No peaks were observed in most common animal samples except two innovative internal PCR controls (Quality Sensor QS1 and QS2). The six-dye multiplex showed a notably high value for the combined probability of exclusion (CPE), exhibiting values of with 0.99999999977688 in the Han population and 0.999999999583875 in the Hui population. The values of combined probability of discrimination (CPD) were 0.999999999999999999999999999997453 in the Han population and 0. 999999999999999999999999999994398 in the Hui population. In addition, concordance studies showed that there was no difference with the AGCU Express Marker 22 Kit.ConclusionThe results indicated that the Investigator® 26plex QS Kit is a robust, reliable, and suitable tool for forensic analysis and databasing.

Project description:While background studies have been commonplace in many occupational fields for a long time, attempts to understand the chemical background in forensics labs has been largely understudied. Such studies can help define the efficiency of cleaning procedures and the integrity of collected data, which is becoming increasingly important due to improving sensitivity of instrumentation and the prevalence with which potent drugs of abuse, such as the opioids, are being seen. The results from this study provide a snapshot of the drug background levels on surfaces in a laboratory system comprised of a central laboratory and two satellite laboratories. Samples were collected from work surfaces by swiping with meta-aramid wipes, and extracted for analysis by LC/MS/MS, for quantitation, and TD-DART-MS, for non-targeted screening. Surfaces were sampled from within the drug unit (where drug evidence is processed) and the evidence receiving unit (where drug cases are handled) in all laboratories as well as the report writing area, the toxicology unit and the crime scene unit in the central laboratory. Results showed that the background was restricted primarily to the benches, balances, and instrumentation within the drug unit - with approximately an order of magnitude higher concentrations observed on the balances, compared to the benches. Higher levels were also observed in analyst specific surfaces when compared to general use surfaces within the drug unit - which corresponded to where bulk evidence handling was completed. Background in the evidence receiving and report writing sections was minimal. Comparison of the main laboratory to the satellite laboratories showed similarities amongst frequently encountered drugs like cocaine, but noticeable differences in opioids which could be attributed to differences in the make-up of exhibits each laboratory receives. Understanding the background levels of drugs in a forensic laboratory environment is crucial to improving cleaning protocols, helping define detection limits for highly sensitive analyses, and providing additional results to the broader community that has been establishing background levels in other environments.

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Comprehensive Insights Into Forensic Features and Genetic Background of Chinese Northwest Hui Group Using Six Distinct Categories of 231 Molecular Markers

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