Mitochondrial DNA (mtDNA), coupled with maternal inheritance and relatively high mutation rates, provides a pivotal way for us to investigate the formation histories of populations. The Hui minority with Islamic faith is one of the most widely distributed ethnic groups in China. However, the exploration of Hui’s genetic architecture from the complete mitochondrial genome perspective has not been detected yet. Therefore, in this study, we employed the complete mitochondrial genomes of 98 healthy and unrelated individuals from Northwest China, as well as 99 previously published populations containing 7274 individuals from all over the world as reference data, to comprehensively dissect the matrilineal landscape of Hui group. Our results demonstrated that Hui group exhibited closer genetic relationships with Chinese Han populations from different regions, which was largely attributable to the widespread of haplogroups D4, D5, M7, B4, and F1 in these populations. The demographic expansion of Hui group might occur during the Late Pleistocene. Finally, we also found that Hui group might have gene exchanges with Uygur, Tibetan, and Tajik groups in different degrees and retain minor genetic imprint of European-specific lineages, therefore, hinting the existence of multi-ethnic integration events in shaping the genetic landscape of Chinese Hui group.

A growing number of studies have shown immunotherapy to be a promising treatment strategy for several types of cancer. Short tandem repeats (STRs) have been proven to be alternative markers for the evaluation of hypermutability in gastrointestinal (GI) cancers. However, the status of STRs and microsatellite instability (MSI) in other tumors have not yet been investigated. To further compare STR and MSI alterations in different tumors, a total of 407 paired DNAs were analyzed from the following eight tumor types: breast cancer (BC), hepatocellular cancer (HCC), pancreatic cancer (PC), colorectal cancer (CRC), gastric cancer (GC), lung cancer (LC), esophageal cancer (EC), and renal cell cancer (RCC). The STR alteration frequencies varied in different tumors as expected. Interestingly, none of the patients possessed MSI-low (MSI-L) or MSI-high (MSI-H), except for the GI patients. The highest STR alteration was detected in EC (77.78%), followed by CRC (69.77%), HCC (63.33%), GC (54.55%), LC (48.00%), RCC (40.91%), BC (36.11%), and PC (25.71%). The potential cutoff for hypermutability was predicted using the published objective response rate (ORR), and the cutoff of LC and HCC was the same as that of GI cancers (26.32%). The cutoffs of 31.58% and 10.53% should be selected for BC and RCC, respectively. In summary, we compared MSI and STR status in eight tumor types, and predicted the potential threshold for hypermutability of BC, HCC, CRC, GC, LC, EC, and RCC.

Mitochondrial DNA (mtDNA) mutations are critical to disease research, evolutionary studies, and lineage tracing but are challenging to analyze due to interference from nuclear mitochondrial sequences (NUMTs). Current high-throughput sequencing techniques rely on multiple primers or probes to amplify short mtDNA fragments, followed by alignment to a reference genome. However, this approach fails to mitigate NUMTs interference, leading to ambiguous results. In this study, we presented a nanopore-based third-generation sequencing (TGS) method using a single primer pair to amplify full-length mtDNA, effectively circumventing NUMTs artifacts. Sequencing was carried out on the QITAN TECH QNome-3841hex platform, generating complete mtDNA coverage for 106 samples from eight distinct family pedigrees, including complex familial structures such as half-siblings and multi-generational households. The sequencing achieved 100% genome coverage with an average mapping rate of 99.96%, supporting comprehensive genome characterization. The resulting dataset offers valuable insights into mtDNA mutation detection, mitochondrial genetics, population genetics, ancestry tracing, and forensic identification, and may advance mtDNA sequencing technologies and intergenerational studies.

Background/Objectives: Short tandem repeat (STR) loci are widely used in forensic genetics for identification and kinship analysis. Traditionally, these loci were selected to avoid medical associations, but recent studies suggest that loci such as TH01 and D16S539 may be linked to psychiatric conditions like schizophrenia. This study explores these potential associations and considers the privacy implications related to disease susceptibility. Methods: We analyzed 19 STR loci, including CODIS core loci and additional loci like Penta D and Penta E. Statistical analyses were conducted on a dataset of schizophrenia patients and matched control individuals to assess the relationship between STR polymorphisms and schizophrenia risk. Results: No significant associations were found between the 19 analyzed loci and schizophrenia in this dataset. While initial analyses revealed minor allele frequency differences at the D3S1358, D13S317, and TPOX loci between the schizophrenia and control groups, these differences did not retain statistical significance following Bonferroni correction (corrected p < 0.0026 for all loci). Conclusions: Although no significant associations were found between STR loci and schizophrenia, this study highlights the importance of considering the potential for forensic DNA data to reveal health-related information. As forensic DNA databases continue to expand, there is a growing need to reassess ethical and legal guidelines to ensure the protection of individual privacy. Future research should continue exploring these genetic associations with larger, more diverse samples to further understand their implications.

Schizophrenia is a severe psychiatric disorder with a complex etiology. Emerging evidence implicates the gut microbiota in its pathogenesis via the microbiota-gut-brain axis, although causal relationships remain unclear. We used a two-sample Mendelian randomization (MR) approach to investigate potential causal links between gut microbial taxa and schizophrenia. To provide a biological context for these findings, we performed 16S rRNA V3-V4 sequencing of fecal samples from an independent cohort of individuals with schizophrenia (SCZ, n = 21) and matched healthy controls (HC, n = 21). Forward MR analysis revealed a significant causal association between seven microbial taxa and schizophrenia risk. Notably, a higher genetically predicted abundance of Bifidobacterium was associated with increased schizophrenia risk (OR = 1.47, 95 %CI: 1.05–2.05), with results robust to multivariable adjustment. Reverse MR found no evidence of reverse causation. In the independent cohort, exploratory 16S rRNA analysis of the top 15 most abundant genera revealed nominal differences, including Bifidobacterium, Megamonas, Streptococcus, and Fusicatenibacter, but none remained significant after FDR correction (all Q > 0.05). However, a targeted confirmatory analysis of four MR-identified taxa revealed significant group differences for three taxa (all Q = 0.010), whereas Lachnospiraceae did not. By integrating MR with 16S rRNA V3-V4 sequencing, this study provides convergent evidence for a potential causal role of specific gut microbial taxa, particularly Bifidobacterium, in contributing to schizophrenia risk. Our findings underscore the context-dependent nature of host-microbiota interactions and support the need for strain-level and functional studies to further elucidate schizophrenia pathogenesis.