Genetic testing and molecular biomarkers最新文献

{"title":"Significant Association of Interleukin-6 Polymorphism and Clinical Data with COVID-19 Severity in the Southwest of Iran.","authors":"Mohadeseh Sheykhi-Sabzehpoush, Ali Khodadadi, Moosa Sharifat, Maryam Haddadzadeh Shoushtari, Hanieh Raji, Ata A Ghadiri","doi":"10.1089/gtmb.2025.0075","DOIUrl":"10.1089/gtmb.2025.0075","url":null,"abstract":"<p><p><b><i>Aim:</i></b> Genetic predisposition is an important factor related to the enhancement of inflammation or immune responses in COVID-19 patients. This study aimed to explore the association between the IL-6 (rs1800795) polymorphism and COVID-19 severity in the southwest of Iran. <b><i>Methods:</i></b> We evaluated these variants in 100 patients with moderate and 100 patients with severe COVID-19 using an (Amplification Refractory Mutation System Polymerase Chain Reaction) ARMS-PCR assay. In addition, we collected clinical characteristics of patients to assess their association with the severity of COVID-19. Statistically, the significance in the present evaluation was <i>p</i> < 0.05. <b><i>Results:</i></b> Our findings showed a significant association with the SNP-174G/C of the IL-6 gene between the moderate and severe groups of COVID-19 patients under the dominant and codominant genetic models (<i>p</i> = 0.02 and 0.03, respectively). The frequency of the G allele was notably higher in the severe group compared to the moderate group (<i>p</i> = 0.02). Also, the rs1800795 genotypes, as well as the patients' age and gender (<i>p</i> = 0.13 and 0.31, respectively), were detected. Additionally, we confirmed a significant correlation between clinical data known as risk factors for COVID-19 severity. <b><i>Conclusion:</i></b> Taken together, understanding the risk factors associated with the increased severity of COVID-19 may provide the opportunity for early and useful intervention in individuals at higher risk.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"202-206"},"PeriodicalIF":1.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144600126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of Obstructive Sleep Apnea Syndrome with Leptin Receptor Gene Q223R and K109R Single Nucleotide Polymorphisms in the Iranian Kurdish Population.","authors":"Ali Alizadeh Severi, Sharareh Rasouli, Mohammad Abdolsamadi, Fatemeh Safari, Farhad Salari, Nejat Mahdieh, Kamal Veisi, Bahman Akbari","doi":"10.1089/gtmb.2025.0004","DOIUrl":"10.1089/gtmb.2025.0004","url":null,"abstract":"<p><p><b><i>Background:</i></b> Obstructive sleep apnea syndrome (OSAS) is a kind of sleep disturbance in which breathing is reduced or stopped for a short time and, if left untreated, can lead to long-term dangerous complications such as heart attack and obesity. Previous studies have shown that leptin receptor (LEPR) gene polymorphisms correlate with obesity and OSAS. This study aimed to measure the correlation of LEPR K109R and Q223R gene polymorphisms with OSAS in the Kurd population of Kermanshah, Iran. <b><i>Materials and Methods:</i></b> This study's population includes 100 patients with OSAS and 100 healthy individuals. Polysomnography diagnostic tests were performed on both patient and control groups. Polymerase chain reaction-restriction fragment length polymorphism was used to check the association between OSAS and LEPR gene polymorphisms. <b><i>Results:</i></b> Significant differences were observed in the allelic frequencies and genotype distributions of the LEPR K109R single nucleotide polymorphism (SNP) between the patients with OSAS and those of the healthy controls, whereas no such differences were found in the allelic and genotype frequencies of LEPR gene Q223R polymorphism. Additionally, the genotypic distribution of patients did not correspond to the severity of the disease. <b><i>Conclusion:</i></b> The results indicate an association between K109R and OSAS, with no such relation between Q223R and OSAS. Neither of the SNPs showed a link with the disease severity level.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"185-192"},"PeriodicalIF":1.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144257819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association Analysis of Four Single Nucleotide Polymorpism(SNP) Variants of the Toll-Like Receptor 4 (TLR4) Gene and Gout in Males of Bai Minority from Dali Prefecture, Yunnan Province, Southwest China.","authors":"Wenbing Huang, Ximin Tang, Yongqin Yang, Jintao He, Dan Zhao, Jinsong Li, Yaru Lin, Zhengliang Li, Jiangyan Li, Wei Xiong","doi":"10.1089/gtmb.2024.0518","DOIUrl":"10.1089/gtmb.2024.0518","url":null,"abstract":"<p><p><b><i>Background:</i></b> Gout is the most common arthritis, and it is associated with monosodium urate (MSU) crystal deposits in articulations, kidney, and soft tissue. The MSU crystal deposit initiates an inflammatory response, mediated by <i>NLRP3</i> inflammasome, with the release of interleukin-1beta. Toll-like receptor 4 (<i>TLR4</i>) is involved in this response. The association of <i>TLR4</i> single nucleotide polymorphisms (SNPs) and gout risk is controversial, with different results according to different populations. In the present study, we aimed to investigate the association between <i>TLR4</i> gene rs2770150, rs4986790, rs4986791, and rs7873784 SNPs and hyperuricemia (HUA) and primary gout in males of Bai minority in Dali Prefecture, Yunnan Province, Southwest China. <b><i>Methods:</i></b> In total, 600 male patients with primary gout and 720 male patients with HUA of Bai minority were collected from the First Affiliated Hospital of Dali University and the Affiliated Hospital of Traditional Chinese Medicine of Dali University from 2022 to 2024. Nine hundred and eighty-eight men of Bai minority (without HUA and primary gout) received the health examination in the physical examination center of the hospital during the same period were recruited in the healthy control group. The four SNPs of rs2770150, rs4986790, rs4986791, and rs7873784 in <i>TLR4</i> receptor were compared among the three groups. <b><i>Results:</i></b> There were no statistically significant differences in the genotype and allele frequency of rs4986790, rs4986791, and rs7873784 among the three groups (all <i>p</i> > 0.05). The difference in distribution of rs2770150 was statistically significant between HUA group and gout group (<i>p</i> < 0.05). There were 714 cases (99.2%) of AA type and 6 cases (0.8%) of GA type in HUA group, while there were 580 cases (96.7%) of AA type and 20 cases (3.3%) of GA type in primary gout group. <b><i>Conclusion:</i></b> Our study demonstrated that patients with HUA with <i>TLR4</i> gene rs2770150 carrying GA type may be more likely to develop gout in males of Bai minority from Dali Prefecture of Yunnan Province, Southwest China.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"193-201"},"PeriodicalIF":1.1,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144591002","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular ABO Blood Group Genotyping in the Indonesian Minangkabau Population.","authors":"Taufik Hidayat, Seri Mirianti Ishar, Rus Dina Rus Din, Nor Hafidza Haron, Nur Mahiza Md Isa, Noor Hazfalinda Hamzah","doi":"10.1089/gtmb.2024.0525","DOIUrl":"10.1089/gtmb.2024.0525","url":null,"abstract":"<p><p><b><i>Objectives:</i></b> Investigating the molecular ABO blood group genotyping in specific populations helps improve our understanding of population genetics and its forensic applications. This study aimed to determine the genotypes and allele frequencies of ABO blood groups in the Minangkabau population. <b><i>Materials and Methods:</i></b> Blood samples were obtained from 200 participants (74 males and 126 females) using consecutive sampling. Only healthy, unrelated Minangkabau individuals with no history of interracial marriage of up to three generations were included. The polymerase chain reaction-restriction fragment length polymorphism technique was employed to amplify segments of the transferase gene, specifically nucleotide 261 in exon 6 and nucleotide 703 in exon 7 of the ABO gene locus, using the restriction enzymes <i>Kpn1</i> and <i>Alu1</i>. <b><i>Results:</i></b> Phenotypic distribution revealed that 46.5% of participants were type A, 33% type B, 16% type O, and 4.5% type AB. The genotypes identified were 4.5% AA, 42% AO, 1.5% BB, 31.5% BO, 4.5% AB, and 16% OO. The gene frequencies calculated were 0.4 for the I^o allele, 0.39 for the I^a allele, and 0.21 for the I^b allele. <b><i>Conclusions:</i></b> These findings provide valuable insights into the genetic structure of the Minangkabau population and contribute to the understanding of ABO allele distributions in Southeast Asia, with potential applications in population genetics and forensic science.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"172-178"},"PeriodicalIF":1.1,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198848","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"-455A Allele May Be a Protective Locus for Aseptic Lower Extremity Superficial Thrombophlebitis.","authors":"Ruixiang Luo, Shengbin Han, Jingzhe Xu, Shun Ding, Hongxi Guan","doi":"10.1089/gtmb.2024.0503","DOIUrl":"10.1089/gtmb.2024.0503","url":null,"abstract":"<p><p><b><i>Objective:</i></b> We designed a prospective experiment to explore the whole promoter region of fibrinogen B β (FGB) with the intent to detect all single nucleotide polymorphisms (SNPs) in this region and their impact on the susceptibility of aseptic lower extremity superficial thrombophlebitis (STP). <b><i>Methods:</i></b> The experiment was conducted prospectively and randomized. Thirty-four idiopathic STP patients and 50 healthy people were recruited, respectively, as case and control groups. The whole FGB promoter was gene sequenced. <b><i>Results:</i></b> From upstream to downstream of the promoter, a totally 6 SNPs-rs1800789 (-1420G/A), rs2227389 (-993C/T), rs1800791 (-854G/A), rs1800790 (-455G/A), rs1800788 (-249C/T), and rs1800787 (-148C/T) were detected via gene sequencing. A statistical difference was found in the -455A allele (rs1800790) between the two groups (<i>p</i> < 0.05, odds ratio = 0.368, 95% confidence interval: 0.093 - 0.852), while no statistical difference as for the other five SNPs (all <i>p</i> > 0.05). <b><i>Conclusions:</i></b> The 455A allele may be a protective locus for the onset of STP. However, due to the low incidence of idiopathic STP, multiple verification tests are still needed.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"144-151"},"PeriodicalIF":1.1,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144119399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Functional Characterization of Plasminogen Activator Urokinase as a Key Gene in Papillary Thyroid Carcinoma Lymph Node Metastasis.","authors":"Tianyun Lv, Ziyan Zhu, Yunchao Xin, Yaping Liu, Zhicheng Chang, Xiaoxia Yin, Xiaoling Shang","doi":"10.1089/gtmb.2025.0046","DOIUrl":"10.1089/gtmb.2025.0046","url":null,"abstract":"<p><p><b><i>Objective:</i></b> Herein, we addressed the clinical challenge of high lymph node metastasis rates despite the lack of reliable diagnostic biomarkers in papillary thyroid carcinoma (PTC) by employing bioinformatics approaches to identify key biomarkers, aiming to provide new strategies for clinical diagnosis and treatment. <b><i>Methods:</i></b> Through bioinformatics analysis, plasminogen activator urokinase (<i>PLAU</i>) was identified as a key biomarker for lymph node metastasis in PTC. Immunohistochemistry (IHC) was performed to validate <i>PLAU</i> expression in tumor and adjacent normal tissues and its correlation with clinicopathological features. <i>PLAU</i> cellular expression was further confirmed by immunocytochemistry (ICC), Western blotting, and quantitative real-time PCR (qRT-PCR). Cell Counting Kit-8 and Transwell assays were used to assess its role in PTC tumor cell proliferation, migration, and invasion. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes enrichment analyses were performed on <i>PLAU</i>-related genes; immune cell infiltration in PTC was evaluated using the TIMER database and CIBERSORT algorithm. <b><i>Results:</i></b> Bioinformatics analysis showed that <i>PLAU</i> expression was significantly elevated in the PTC lymph node metastasis group [area under the receiver operating characteristic curve, 75.3%]. IHC results demonstrated significantly elevated <i>PLAU</i> expression in tumor tissues. Clinicopathological correlation analysis indicated that <i>PLAU</i> was associated with lymph node metastasis, particularly lateral cervical lymph node involvement. ICC, qRT-PCR, and Western blotting confirmed that <i>PLAU</i> was highly expressed in PTC tumor cells. After transient knockdown of <i>PLAU</i>, proliferation, migration, and invasion of PTC tumor cells were significantly reduced. GO and KEGG enrichment analyses showed that <i>PLAU</i>-related genes were primarily involved in signal transduction, inflammatory response, and P53, PI3K-Akt, and Mitogen-activated protein kinase (MAPK) signaling pathways. Immune cell infiltration was significantly higher in PTC tissues than in adjacent normal tissues; <i>PLAU</i> expression positively correlated with B and CD8⁺ T cell infiltration and Programmed cell death protein 1 (PD-1) and Cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) expression. <b><i>Conclusions:</i></b> <i>PLAU</i> enhances PTC cell proliferation, migration, and invasion while promoting immune escape through the Th1/Th2 imbalance and PD-1/CTLA-4 upregulation, serving as a potential biomarker for lymph node metastasis in PTC.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"152-165"},"PeriodicalIF":1.1,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198847","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>ICAM1</i> 778G>A (rs1799969), <i>ADD1</i> 1378G>T (rs4961), <i>NPPA</i> 553T>C (rs5065), and <i>NOS3</i> 894G>T (rs1799983) Variants in Infants with Gastroschisis from Western Mexico.","authors":"Lucina Bobadilla Morales, Estrella Lizbeth Mellín-Sánchez, Mireya Robledo-Aceves, Alfredo Corona-Rivera, Mireya Orozco-Vela, Juan José Cárdenas-Ruiz Velasco, Juan Antonio Ramirez-Corona, Jessica Paola Cruz-Cruz, Ana Fátima Martínez-Torres, Jorge Román Corona-Rivera","doi":"10.1089/gtmb.2025.0043","DOIUrl":"10.1089/gtmb.2025.0043","url":null,"abstract":"<p><p><b><i>Background:</i></b> Gene variants of <i>ICAM1</i> (rs1799969), <i>ADD1</i> (rs4961), <i>NPPA</i> (rs5065), and <i>NOS3</i> (rs1799983) have been proposed as possible genetic risk factors for vascular compromise in gastroschisis. However, this interpretation is questionable because the vascular disruption theory is now considered unlikely. According to current knowledge, gastroschisis is caused by a separation of the umbilical ring. <b><i>Aim:</i></b> This study reevaluated the gene variants of <i>ICAM1</i> (rs1799969), <i>ADD1</i> (rs4961), <i>NPPA</i> (rs5065), and <i>NOS3</i> (rs1799983) as potential genetic risk factors for gastroschisis. <b><i>Materials and Methods:</i></b> The study involved a cohort of 151 live-born patients with gastroschisis (cases) and 229 controls from Western Mexico. We used Sanger sequencing to investigate the potential influence of risk alleles for the <i>ICAM1</i> (rs1799969), <i>ADD1</i> (rs4961), <i>NPPA</i> (rs5065), and <i>NOS3</i> (rs1799983) gene variants. Data were analyzed using logistic regression analysis. <b><i>Results:</i></b> The risk of gastroschisis increased in relation to the frequency of homozygosity for the <i>ICAM1</i> 778G>A (rs1799969) variant among cases and controls (6% vs. 2.6%, respectively, adjusted odds ratio = 3.2, 95% confidence interval 1.0-10.1). For the <i>ADD1</i> 1378G>T (rs4961), <i>NPPA</i> 553T>C (rs5065), and <i>NOS3</i> 894G>T (rs1799983) gene variants, the adjusted odds ratios did not show an association with the risk of gastroschisis. <b><i>Conclusions:</i></b> Although the number of identified homozygotes was small, our results suggest that the <i>ICAM1</i> 778AA (gly241arg) genotype is associated with an increased risk of gastroschisis. This gene variant is discussed in relation to the pathogenesis of amniotic damage in gastroschisis.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"139-143"},"PeriodicalIF":1.1,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144150213","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of <i>CTLA4</i> Gene Polymorphisms with Rheumatoid Arthritis Susceptibility.","authors":"Abdullah Albahar, Ibrahim Torktaz, Massoud Houshmand","doi":"10.1089/gtmb.2025.0086","DOIUrl":"10.1089/gtmb.2025.0086","url":null,"abstract":"<p><p><b><i>Background:</i></b> Rheumatoid arthritis (RA) is a chronic inflammatory disease, presenting with joint inflammation and its progressive destruction, affecting a range of about 0.24-1% of the population in different parts of the world. It is one of the major disabling conditions among middle-aged and older women. In this study, the association between five single nucleotide polymorphisms (SNPs) of the CTLA4 gene and RA was investigated. <b><i>Materials and Methods:</i></b> The study group included 200 patients with RA and 184 healthy individuals from the Iranian population as a control group. Results: After PCR and genotyping, 4 of the 5 SNPs studied showed a significant association with RA. Also, an association between specific haplotypes with RA was determined. <b><i>Conclusion:</i></b> Based on the results, it can be said that some SNPs of the CTLA4 gene may serve as genetic markers for predicting RA susceptibility or progression and using personalized treatment, lead to improved outcomes among patients with RA.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"166-171"},"PeriodicalIF":1.1,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144150163","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reclaiming Genomics: Privacy, Direct-to-Consumer Genetic Testing, and the Revolution We Still Need.","authors":"Sharon F Terry","doi":"10.1089/gtmb.2025.0135","DOIUrl":"10.1089/gtmb.2025.0135","url":null,"abstract":"","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"129-130"},"PeriodicalIF":1.1,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143995183","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Spectrum and Frequencies of Genes for Inherited Hearing Loss in Southwestern Chinese Families.","authors":"Yuanyuan Xiao, Li Wang, Cong Zhou, Hanbing Xie, Shuang Huang, Jing Wang, Shanling Liu","doi":"10.1089/gtmb.2024.0281","DOIUrl":"10.1089/gtmb.2024.0281","url":null,"abstract":"<p><p><b><i>Background:</i></b> Inherited hearing loss is an extremely heterogeneous and often ethnicity-specific disorder, with more than 150 genes identified to date. Thus, clinical diagnosis is challenging, particularly because of the thousands of different severe causal mutations between populations. <b><i>Materials and methods:</i></b> In this study, we aimed to identify the mutational spectra associated with hearing loss in 89 Southwestern Chinese families. We used a hearing loss-targeted panel to sequence 163 genes known to cause or be candidate genes for hearing loss. The targeted panel was implemented to 89 families with syndromic or nonsyndromic hearing loss. <b><i>Results:</i></b> Of the total 89 patients, 55 patients carried 101 pathogenic/likely pathogenic alleles, providing a genetic diagnosis in 61.80%. <i>GJB2</i> variants were predominant, with a frequency of 43.6% among all variants, followed by variants of <i>SLC26A4</i> (31.7%), <i>MYO15A</i> (5.9%), and <i>MT-RNR1</i> (5%). These 4 genes accounted for 80.56% (87/108) of all identified alleles. Furthermore, 3 of the 89 patients carried 7 alleles of unknown significance. In total, 45 variants were identified, including 35 variants reported in the Human Gene Mutation Database Professional and 10 novel variants that had not been previously reported. <b><i>Conclusion:</i></b> Our findings provide a survey of the mutation spectrum in patients with hearing loss from Southwestern Chinese families. This highlights the fact that genomic sequencing with a selected gene panel specific to hearing loss is effective for its genetic diagnosis.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"131-137"},"PeriodicalIF":1.1,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143966770","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}