Gene Reports最新文献

{"title":"In-silico analysis of novel mutations identified in Chikungunya virus","authors":"Hassan I. Alguridi ,&nbsp;Faisal A. Alzahrani ,&nbsp;Hisham N. Altayb","doi":"10.1016/j.genrep.2024.102118","DOIUrl":"10.1016/j.genrep.2024.102118","url":null,"abstract":"<div><div>Chikungunya fever, caused by CHIKV transmitted by <em>Aedes</em> mosquitoes, poses a significant global health challenge. This study investigates novel Chikungunya Virus (CHIKV) identified mutations in Jeddah, Saudi Arabia, through <em>in silico</em> analyses. The study focused on mutations detected in the E1, capsid, and nsP3 regions of the CHIKV genome, employing molecular dynamics (MD) simulations and bioinformatic tools for analysis. Methods included sequencing the virus's whole genome and identifying rare mutations in the CHIKV strain from Jeddah (2021), homology modelling done to create three-dimensional structures of CHIKV proteins, and protein stability prediction conducted using various computational tools. MD simulation was utilised to analyse the stability of mutated proteins, comparing wild-type and mutated forms. The main findings revealed three significant mutations (E1:A249T, C: A147V, nsP3:V58I) that potentially affect the stability and function of their respective proteins. The analysis predicted these mutations to generally decrease the stability of the proteins. MD simulations indicated fluctuations and conformational changes in mutated proteins, suggesting altered dynamics and potentially impacting CHIKV's virulence and transmission. The study identified and analysed novel CHIKV mutations, offering insights into their potential impact on viral pathogenesis and highlighting the importance of monitoring viral evolution to manage and prevent outbreaks effectively.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102118"},"PeriodicalIF":1.0,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143134967","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular docking analysis of CYP2C19 gene polymorphisms and their effect on escitalopram plasma concentrations in major depressive disorders patients","authors":"B. Jeevan Kumar ,&nbsp;Vijayakumar Thangavel Mahalingam ,&nbsp;M. Ganesh Kumar ,&nbsp;S. Mohana Lakshmi","doi":"10.1016/j.genrep.2024.102119","DOIUrl":"10.1016/j.genrep.2024.102119","url":null,"abstract":"<div><h3>Background</h3><div>Among depressed patients, escitalopram plasma levels differed between those who were considered extensive metabolizers and inadequate metabolizers of CYP2C19. Consequently, we studied the impact of CYP2C19 gene variants on the levels of drugs in the bloodstream of individuals suffering from MDD (Major Depressive Disorder) in south India.</div><div>Heterocyclic-based drugs have strong bioactivities and are active pharmacophores, used to design several drugs.</div></div><div><h3>Methods</h3><div>A total of 109 individuals with MDD who prescribed escitalopram at doses of were 5, 10, 15, or 20 mg daily participated in this research. High-performance liquid chromatography (HPLC) was used to analyze the level of escitalopram in blood. The polymorphisms of the CYP2C19 were determined by employing the PCR techniques. The molecular docking analysis of escitalopram against different proteins responsible for SIRT6 (PDB ID: <span><span>5Y2F</span><svg><path></path></svg></span>), <span><span>OSR1</span><svg><path></path></svg></span> kinase (PDB ID: <span><span>2VWI</span><svg><path></path></svg></span>), <span><span>Akt1</span><svg><path></path></svg></span> (PDB ID: <span><span>7APJ</span><svg><path></path></svg></span>) &amp; desvenlafaxine (PDB ID: <span><span>4MMC</span><svg><path></path></svg></span>) is discussed.</div></div><div><h3>Results</h3><div>Our study found that 55 % of the subjects were intermediate metabolizers, followed by extensive (19.3 %), poor (17.4 %), and ultra-rapid (8.3 %). A significant correlation is identified between the steady state plasma concentration and Sex with (P- Value &lt;0.05), and an insignificant correlation was seen in Age and BMI with (P – Value &gt;0.05). Most gene variants seen in the study population were CYP2C19*1/*2, accounting for 49 individuals (44.9 %). Many heterocyclic-based derivatives show residual interactions, affinity, and hydrogen bonding with the different proteins with escitalopram, which were identified by investigating such heterocyclic compounds in silico molecular docking analysis. The research presented here showed that heterocyclic derivatives may operate as potent anti-ischemic agents when combined with other compounds to produce highly efficient anti-ischemic agents.</div></div><div><h3>Conclusion</h3><div>These findings showed that sex substantially impacted the CYP2C19 genetic variation. Medication administration to individuals with CYP2C19 PM (poor metabolizers) requires special caution.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102119"},"PeriodicalIF":1.0,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143134973","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"microRNA expression profiling of bone marrow and peripheral blood samples in children with B-cell acute lymphoblastic leukemia: MiR-223-3p, miR-363-3p, and miR-708-5p as potential biomarkers","authors":"Tânia Souza de Liz ,&nbsp;Michele Patrícia Rode ,&nbsp;Júlia Cisilotto ,&nbsp;Adny Henrique Silva ,&nbsp;Mariana Martins Vernaschi ,&nbsp;Tânia Beatriz Creczynski-Pasa","doi":"10.1016/j.genrep.2024.102120","DOIUrl":"10.1016/j.genrep.2024.102120","url":null,"abstract":"<div><h3>Background</h3><div>Precursor B-cell acute lymphoblastic leukemia (B-ALL) is the most common subtype of acute lymphoblastic leukemia and the most frequent cancer in pediatric patients. This study aimed to compare microRNA (miRNA) expression profiles between bone marrow and peripheral blood samples and evaluate potential diagnostic biomarkers for childhood B-ALL.</div></div><div><h3>Procedure</h3><div>Peripheral blood and bone marrow samples were collected from children with B-ALL and healthy controls and subjected to miRNA microarray analysis followed by RT-qPCR.</div></div><div><h3>Results</h3><div>Microarray analysis revealed no differences in miRNA expression between peripheral blood and bone marrow samples. Comparison of peripheral blood profiles between B-ALL and control subjects revealed 13 differentially expressed miRNAs. RT-qPCR analysis did not show significant differences between bone marrow and peripheral blood samples for 12 of the 14 miRNAs tested (miR-195-5p, −363-3p, −410-3p, −4701-5p, −128-3p, −181a-5p, −181b-5p, −196b-5p, −708-5p, −222-3p, −125b-5p, and − 223-3p). Furthermore, it was found that miR-410-3p was downregulated and miR-195-5p, −363-3p, −4701-5p, −128-3p, −181a-5p, −181b-5p, −196b-5p, −708-5p, −222-3p, and − 223-3p were upregulated in B-ALL patients. The areas under the curve for miR-223-3p, −363-3p, and − 708-5p were 0.9588 (sensitivity = 85 %, specificity = 100 %), 0.9630 (sensitivity = 89 %, specificity = 100 %), and 0.9794 (sensitivity = 96 %, specificity = 100 %), respectively. Enriched pathway analysis of differentially expressed miRNAs identified genes with important regulatory roles associated with cell cycle, proliferation, and apoptosis.</div></div><div><h3>Conclusions</h3><div>These data suggest an equivalence between peripheral blood and bone marrow miRNA expression profiles and demonstrate the potential of miR-223-3p, −363-3p, and specially −708-5p as B-ALL biomarkers.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102120"},"PeriodicalIF":1.0,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143135389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dataset on transcriptome profiling of in vitro wild and cultivar genotypes of Elettaria cardamomum Maton (L) in response to temperature stress","authors":"Soumya S. Dharan,&nbsp;Jinu Thomas,&nbsp;K.K. Sabu","doi":"10.1016/j.genrep.2024.102117","DOIUrl":"10.1016/j.genrep.2024.102117","url":null,"abstract":"<div><div><em>Elettaria cardamomum</em> (L) Maton, renowned as the ‘Queen of spices’, is among the most expensive spices globally due to its distinctive aroma and multiple utility in food and medical preparations. The present work provides a dataset on the transcriptome profiling and <em>de novo</em> assembly of temperature-stressed wild and cultivar varieties of cardamom plants under <em>in vitro</em> conditions. RNA sequencing using Novaseq 6000 (Illumina) of the four samples, treated at 25 °C and at 40 °C, along with their replicas, has generated a total of 287.37 million reads. The raw data of the eight libraries sequenced were submitted to the NCBI SRA database under the bioproject ID PRJNA1053347. The quality filtered raw reads were further subjected to <em>de novo</em> transcriptome assembly using Trinity v2.15.1, resulting in the generation of a comprehensive reference transcriptome consisting of 348,361 contigs with an N50 value of 2014. The 248,788 unigenes clustered with CD-HIT were further annotated with available databases and annotation tools for functional prediction and the identification of differentially expressed unigenes. The research offers a valuable transcriptome resource for future studies in the Zingiberaceae family, highlighting key unigenes linked to the stress-responsive mechanisms of cardamom. The gene ontology and KEGG pathway analysis identified transcriptomic factors related to temperature stress adaptation, which could assist in genetically modifying the plant for better survival in harsh conditions.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102117"},"PeriodicalIF":1.0,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143134594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lnc_CXADR/miR-421/ATG7 as promising biomarkers relevant to hepatocellular carcinoma","authors":"Dalia Abdel Wahab Mohamed ,&nbsp;Raghda M. Ghorab ,&nbsp;Soha Abuelela ,&nbsp;Dina Morsy ,&nbsp;Wael M. Elayat","doi":"10.1016/j.genrep.2024.102114","DOIUrl":"10.1016/j.genrep.2024.102114","url":null,"abstract":"<div><div>Noncoding RNAs (ncRNAs) are a diverse class of non-protein coding RNA molecules. They have gained significant attention as key regulators of gene expression, contributing to the complex molecular landscape of cancer. There has been a growing concern about ncRNAs' diagnostic and prognostic potential as biomarkers in hepatocellular carcinoma (HCC) and their therapeutic implications in HCC treatment. This study focuses on elucidating the role of microRNAs (miRNAs) and long noncoding RNAs (LncRNAs); being two of the major classes of ncRNAs that are suggested to play essential roles in the initiation and progression of HCC.</div></div><div><h3>Methods</h3><div>In silico analysis was used to retrieve biomarkers associated with HCC. We used public microarray databases to explore ncRNAs relevant to HCC; has-mir-421 and lncRNA-CXADR were chosen. Their relative expression and ATG7 as an autophagy marker were evaluated by Real-time quantitative PCR (RT-qPCR) in 3 patient groups: HCC, patients with hepatitis C virus (HCV), and a control group.</div></div><div><h3>Results</h3><div>Findings revealed that has-mir-421, Lnc_CXADR, and ATG7 expression in the HCC group was significantly elevated than in HCV and control groups (P &lt; 0.01). Furthermore, a strong significant positive correlation existed between has-mir-421, Lnc_CXADR, and ATG7 expression (p &lt; 0.01). This positive correlation indicates that Lnc_CXADR may upregulate the expression of miRNA421, triggering upregulation of ATG7 expression in HCC, which may have an oncogenic role in HCC pathogenesis.</div></div><div><h3>Conclusion</h3><div>Lnc_CXADR/miRNA421/ATG7 may play promising roles in HCC diagnosis and prognosis as new serum biomarkers.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102114"},"PeriodicalIF":1.0,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143134908","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Extensive mitochondrial genomic analyses reveal dynamic gene order rearrangements in the class Octocorallia (Cnidaria: Anthozoa)","authors":"Yuki Yoshioka ,&nbsp;Megumi Kanai ,&nbsp;Shogo Gishitomi ,&nbsp;Nana Arakaki ,&nbsp;Tatsuki Koido ,&nbsp;Chuya Shinzato ,&nbsp;Jun Inoue ,&nbsp;Tomofumi Nagata ,&nbsp;Noriyuki Satoh","doi":"10.1016/j.genrep.2024.102111","DOIUrl":"10.1016/j.genrep.2024.102111","url":null,"abstract":"<div><div>The class Octocorallia comprises two major clades corresponding to the orders Scleralcyonacea and Malacalcyonacea, including over 3500 species that occur in various marine habitats. Unlike other animals, octocorallians possess two unusual mitochondrial genomic characters: a mismatch repair gene (<em>mt-mutS</em>) common to both clades and gene order rearrangements involving inversions of protein-coding genes known only in the Scleralcyonacea. <em>mt-mutS</em> is considered a major driver of gene order arrangements; however, it is not clear why gene order rearrangements are restricted to the Scleralcyonacea. Here, we report 83 mitochondrial genomes of the Malacalcyonacea. Mitochondrial genome sizes range from 18 to 20 Kbp due to insertion of non-coding sequences rather than gene duplications, and genome size is strictly conserved within genera/families. We discovered four novel mitochondrial gene order rearrangement patterns in Malacalcyonacea. Evidently, mitochondrial gene order rearrangements are common to both orders in octocorals, and <em>mt-mutS</em> may facilitate recombination that causes these dynamic mitochondrial gene order rearrangements.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102111"},"PeriodicalIF":1.0,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143134608","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ID1 gene overexpression confers quiescence and chemoresistance in a leukemia cellular model","authors":"José L. Padilla Agudelo ,&nbsp;Diego F. Rincón Reyes ,&nbsp;Karen L. Pachón Meza ,&nbsp;Andrea I. Pinilla Da Silva ,&nbsp;Camilo Ernesto Moreno Cristancho ,&nbsp;Nataly Cruz Rodriguez ,&nbsp;José A. Gutiérrez Triana","doi":"10.1016/j.genrep.2024.102110","DOIUrl":"10.1016/j.genrep.2024.102110","url":null,"abstract":"<div><h3>Introduction</h3><div>B-precursor acute lymphoblastic leukemia (B-ALL) is a hematological malignancy with a high incidence in Colombia and a low survival rate compared to other countries. Previous studies found a significant association between the altered expression of the <em>ID1</em>, <em>ID3</em>, and <em>IGJ</em> genes with poor disease prognosis in Colombian adult patients.</div><div>Method and main results: In order to understand the fundamental processes involved, we created a B-ALL cell line (NALM-6) that constitutively overexpress the <em>ID1</em> gene, using the Tol2-transposase system.</div></div><div><h3>Conclusions</h3><div>The NALM6_tID1 cells consistently exhibited increased expression of <em>ID1</em>, leading to reduced cell growth and notable resistance to dexamethasone and cyclophosphamide chemotherapy drugs, when compared to the control group. This study provides important information for developing personalized treatment options by improving our understanding of the molecular pathways that cause B-ALL in patients from Colombia.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102110"},"PeriodicalIF":1.0,"publicationDate":"2024-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143134597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular study of glpT and uhpT genes as fosfomycin transport systems in uropathogenic Staphylococcus aureus","authors":"Shehab Khalid Shehab,&nbsp;Rana Kadhim Mohammed","doi":"10.1016/j.genrep.2024.102109","DOIUrl":"10.1016/j.genrep.2024.102109","url":null,"abstract":"<div><div>Antibiotic resistance is a significant problem that requires new treatments. There is growing concern about fosfomycin resistance in <em>Staphylococcus aureus</em>; understanding this resistance will help develop effective treatment strategies and preserve antibiotic efficacy. This study investigates the impact of glycerol-3-phosphate transporter (GlpT) and hexose phosphate transporter (UhpT) mutations on fosfomycin uptake and resistance.</div></div><div><h3>Methods</h3><div>This study isolated and identified <em>S. aureus</em> isolates from urine samples; the diagnosis was made using the <em>16S rRNA</em> gene (as specific gene detection). The study examined the antibacterial properties of fosfomycin using the minimum inhibitory concentration (MIC). The study also used molecular assays to identify, sequence, and determine the expression levels of fosfomycin resistance genes (<em>glpT</em> and <em>uhpT</em>) under different treatments.</div></div><div><h3>Results</h3><div>The genetic methods identification of <em>S. aureus</em> by <em>16S rRNA</em> gene showed all isolates gave positive results. Compared to the breaking point, the number of <em>S. aureus</em> isolates recorded MIC concentration ≥ 256 μg/ml was 24 % (12 isolates) and appeared resistant to Fosfomycin. There was a decrease in gene folding expression for the efflux pump system in response to the different treatments.</div></div><div><h3>Conclusions</h3><div>The study shows the prevalence of resistance to fosfomycin. The molecular assays reveal the genetic aspects of resistance and its modification. Fosfomycin resistance included transporter (efflux pump) (<em>glpT</em> and <em>uhpT</em>) genes and variable gene expression changes under different treatments.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102109"},"PeriodicalIF":1.0,"publicationDate":"2024-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143134907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The effects of crocin on fear condition memory impairment caused by morphine in relation to gene expression of amygdala HSP70, HSP90 and NF-kB","authors":"Bahareh Soltanahmadi ,&nbsp;Mohammad Nasehi ,&nbsp;Fatemeh Rohollah ,&nbsp;Haniyeh Bashi Zadeh Fakhar ,&nbsp;Soyar Sari","doi":"10.1016/j.genrep.2024.102108","DOIUrl":"10.1016/j.genrep.2024.102108","url":null,"abstract":"<div><h3>Background</h3><div>Some studies have shown that morphine causes memory impairment through different mechanisms. The roles of inflammation/NF-κB and BDNF/TrkB/CREB pathways are significant in the memory deficits caused by morphine. Aim: In this study, the effect of crocin on the impairment of fear memory caused by morphine was investigated, and the expression of HSP70, HSP90, and NF-kB genes that play an important role in memory in male Wistar rats was measured.</div></div><div><h3>Material and method</h3><div>The fear conditioning test was used to check the fear memory of rats, and total Freezing time was considered as an index of memory. Rats (96 Wistar rats) were randomly divided into 12 groups. The rats were injected with saline (1 ml/kg) or different doses of morphine (0.5, 2.5, and 5 mg/kg) 5 min after injection of saline (1 ml/kg) or subthreshold doses of crocin (60 mg/kg). Real-time PCR method was used for HSP70, HSP90, and NF-kB gene expression in the Amygdala.</div></div><div><h3>Result</h3><div>Administration of morphine 5 mg/kg decreased the total freezing and increased the latency freezing (P &lt; 0.001). Also, the results showed that crocin 60 mg/kg reduced memory impairment induced by morphine. Real-time PCR analysis showed that morphine 5 mg/kg significantly increased the expression of the HSP70, HSP90, and NF-kB genes. However, the subthreshold dose of crocin (60 mg/kg) reduced the increase in gene expression.</div></div><div><h3>Conclusion</h3><div>The study showed that morphine impacts memory and boosts gene expression of HSP70, HSP90, and NF-kB, while crocin could potentially reverse this effect by regulating these amygdala genes, suggesting avenues for future research.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102108"},"PeriodicalIF":1.0,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143134897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Systematic exploration of genetic traits in Qinghai Salar ethnic group through a validated InDel panel for individual identification","authors":"Yunying Zhang ,&nbsp;Fanzhang Lei ,&nbsp;Qiong Lan ,&nbsp;Meiming Cai ,&nbsp;Bofeng Zhu ,&nbsp;Chunmei Shen","doi":"10.1016/j.genrep.2024.102100","DOIUrl":"10.1016/j.genrep.2024.102100","url":null,"abstract":"<div><h3>Background</h3><div>Insertion/deletion (InDel) polymorphism markers, mainly characterized by diallelic length polymorphisms, have been extensively investigated in forensic applications. The Salar ethnic group is one of the ten officially recognized Muslim minorities in China, with a large population mainly residing in Qinghai Province, China, yet there have been few population genetic studies on the Salar ethnic group, let alone those using InDel markers.</div></div><div><h3>Aim</h3><div>The present study aims to explore the genetic traits and enrich the genetic resources of the Qinghai Salar ethnic group through a validated InDel panel developed in-house.</div></div><div><h3>Subjects and methods</h3><div>Forensic performance of the novel self-constructed 43-InDel panel, designed for individual identification, was evaluated in the Qinghai Salar ethnic group from China. In addition, based on these 43 InDels, the genetic characteristics of the Qinghai Salar ethnic group were systematically explored by incorporating 27 reference populations from five continents.</div></div><div><h3>Results</h3><div>The results indicated that most loci in the 43-InDel panel were genetically polymorphic in the Qinghai Salar ethnic group, and the novel panel could serve as an efficient tool for individual identification of the studied group, with a combined discrimination power of more than 0.9999. Population genetics analyses demonstrated that the Qinghai Salar ethnic group was genetically closer to East Asian populations than to other continental populations, especially the Hui ethnic group in Northwest China and Han Chinese in Beijing.</div></div><div><h3>Conclusion</h3><div>In summary, the in-house developed 43-InDel panel could be an effective tool for individual identification and provide additional genetic information for the Qinghai Salar ethnic group.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102100"},"PeriodicalIF":1.0,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143134966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}