农学最新文献

{"title":"The isolation and functional identification of a phosphoenolpyruvate carboxykinase gene from Saccharina japonica","authors":"Peichong Lin ,&nbsp;Yatong Yao ,&nbsp;Lijuan Lu ,&nbsp;Yanhui Bi ,&nbsp;Zhigang Zhou","doi":"10.1016/j.aaf.2023.08.007","DOIUrl":"10.1016/j.aaf.2023.08.007","url":null,"abstract":"<div><div>Similar to other macroalgae, <em>Saccharina japonica</em> has CO₂-concentrating mechanism (CCM) that allows high photosynthesis efficiency and elevates biomass. Phosphoenolpyruvate carboxykinase (PEPCK) in cytoplasm is an essential component of CCM. However, no reports on cytosolic PEPCK of <em>S. japonica</em> are available. In this study, the full-length cDNA sequence of a PEPCK gene (<em>SjPCK1</em>) predicted to be localized in cytoplasm, was screened from the full-length transcriptome of <em>S. japonica</em> gametophytes and identified by RT-PCR. The complete cDNA sequence of <em>SjPCK1</em> was 2174 bp in length, which encompassed an open reading frame (ORF) of 1734 bp, a 5′- untranslated region (UTR) of 216 bp and a 3′-UTR of 224 bp. In parallel, the genomic DNA of <em>SjPCK1</em> was 21 294 bp in length, characterized by the presence of 11 introns and 12 exons. It encoded a protein of 577 amino acids with a molecular weight of 63 kD and an <em>isoelectric point</em> of 8.47. Amino acid sequence alignment showed that the functional sites of PEPCK were highly conserved in the selected species. Phylogenetic analysis and sequence characterization showed that <em>SjPCK1</em> was an ATP-dependent PEPCK. <em>SjPCK</em>1 gene was expressed by using <em>Escherichia coli</em> prokaryotic expression system, and the SjPCK1 protein with His 6 tag (rSjPCK1) was 81.93 kD in molecular weight. Enzyme activity assay results showed that the specific activity of carboxylase and decarboxylase of rSjPCK1 was 1.91 ± 0.29 U/mg prog and 11.3 ± 1.97 U/mg prog, respectively. These findings provide valuable molecular and biochemical insights for a further analysis of the role of cytosolic PEPCK in the storage of inorganic carbon in <em>S. japonica</em>.</div></div>","PeriodicalId":36894,"journal":{"name":"Aquaculture and Fisheries","volume":"10 2","pages":"Pages 210-218"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135433958","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":"Effect of acute temperature stress on energy metabolism, immune performance and gut microbiome of largemouth bass (Micropterus salmoides)","authors":"Shuaibing Ma ,&nbsp;Yabing Lv ,&nbsp;Liang Hou ,&nbsp;Zhiming Jia ,&nbsp;Shen Lin ,&nbsp;Shaodi Wang ,&nbsp;Xugang He ,&nbsp;Jie Hou","doi":"10.1016/j.aaf.2023.10.001","DOIUrl":"10.1016/j.aaf.2023.10.001","url":null,"abstract":"<div><div>Frequent occurrences of extreme weather events, particularly severe temperature fluctuations, have significantly impaired the growth and health of fish and resulted in detrimental impacts on aquaculture production. Despite recognition of the crucial role that temperature plays in aquaculture, there is currently inadequate research to assess the consequences of extreme temperature fluctuations on fish health. Hence, we set up acute warming (AW) and cooling groups (AC) by increasing or decreasing water temperature by 8 °C and then gradually restoring the initial temperature (22 °C), to investigate the adaptive regulation of energy metabolism, immune function, and gut microbiota in largemouth bass (<em>Micropterus salmoides</em>). The fish antioxidant system responded to assist their environmental adaptation: both groups showed activation of serum superoxide dismutase (SOD) and catalase (CAT) secretion, and a significant increase in serum total antioxidant capacity (T-AOC) (<em>P</em> &lt; 0.05). Distinct metabolic strategies were employed to cope with sudden environmental perturbations: upon experiencing a temperature decrease (AC1), largemouth bass exhibited a significant increase in serum triglyceride (TG) and cholesterol (CHOL) levels (<em>P</em> &lt; 0.05), coupled with a reduction in blood glucose levels (<em>P</em> &lt; 0.05). However, a considerable reduction in serum TG and CHOL levels was observed after acute warming stage (AW1) (<em>P</em> &lt; 0.05). Following the recovery of temperature, both groups demonstrated a tendency towards normal energy metabolism (CON). Compared to the AW group, the immune function of largemouth bass in the AC group was dramatically affected: alkaline phosphatase (AKP), aspartate transaminase (AST), and alanine transaminase (ALT) increased significantly, while lysozyme (LZM) decreased significantly when the temperature dropped sharply (<em>P</em> &lt; 0.05). After the temperature fluctuations, there were apparent changes in the gut morphology and microbiota of largemouth bass. Microbial functional analysis using the KEGG database revealed apparent alterations in microbial biological functions, especially during the cooling fluctuation (AC). The results indicated that dramatic weather changes, particularly extreme cold, may be detrimental to the health and welfare of largemouth bass.</div></div>","PeriodicalId":36894,"journal":{"name":"Aquaculture and Fisheries","volume":"10 2","pages":"Pages 260-270"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136009492","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":"Phenotyping peanut cultivars with contrasting responses to pod rot pathogens","authors":"Jin Li ,&nbsp;Chunjiao Jiang ,&nbsp;Zhen Yang ,&nbsp;Fengjian Liang ,&nbsp;Zhiwei Wang ,&nbsp;Xiuzhen Wang ,&nbsp;Xiushan Sun ,&nbsp;Jing Yu ,&nbsp;Mingjun Zhang ,&nbsp;Chuantang Wang","doi":"10.1016/j.ocsci.2024.11.003","DOIUrl":"10.1016/j.ocsci.2024.11.003","url":null,"abstract":"<div><div>Peanut is a major cash crop in the world. In recent years, peanut pod rot has become increasingly prevalent, resulting in significant yield and quality losses. Resistance breeding is considered a cost-effective approach for managing pod rot. Previous research in the United States identified significant anatomical differences in leaves and shells among peanut cultivars with varying responses to pod rot caused by <em>Pythium myriotylum</em> Drechs. and <em>Rhizoctonia solani</em> Kuhn. However, whether similar anatomical features correlate with resistance to peanut pod rot in Laixi, Qingdao, remained unknown, where the primary causal pathogen for the disease was <em>F. solani</em>. In this study, nine peanut varieties with differing disease reactions to peanut pod rot were planted in the same plots. Paraffin sections of leaves and shells were prepared and stained to evaluate anatomical features, and the main agronomic traits were assessed alongside leaf spot disease ratings. All the four anatomical features, leaf palisade cell number, palisade cell width, index (palisade cell number per mm ​× ​cell width in μm), and shell lignin staining area, were measured before the onset of pod rot and were found to be negatively correlated with pod rot scores. Given the consistent and strong correlation of these anatomical features with pod rot resistance and their high heritability estimates, the pre-existing resistance could be identified even in the absence of the disease, which is particularly valuable for fields where pod rot may not occur every year. This study provided useful anatomical indicators for selecting resistance to peanut pod rot, predominantly caused by <em>F. solani</em>.</div></div>","PeriodicalId":34095,"journal":{"name":"Oil Crop Science","volume":"10 1","pages":"Pages 18-24"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143682330","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":"Geographical and species differences of fatty acid components of small pelagic fishes, micronekton, and squids in the northwestern pacific","authors":"Seiji Ohshimo ,&nbsp;Yuko Hiraoka ,&nbsp;Yasuhiro Ando","doi":"10.1016/j.aaf.2023.10.005","DOIUrl":"10.1016/j.aaf.2023.10.005","url":null,"abstract":"<div><div>Geographical and species differences in fatty acid composition were evaluated among 546 specimens of small pelagic fish, micronekton, and squid in the Northwestern Pacific. For all species except for four micronekton species, the dominant fatty acid was docosahexaenoic acid (DHA). The ratios of ω3 to ω6 fatty acids and DHA to eicosapentaenoic acid (EPA) differed among species and organisms. ω3:ω6 and DHA:EPA were generally lower in micronekton than in squids and small pelagic fishes. The ω3:ω6 values in the northeastern area was higher than that in the southwestern area, meanwhile the DHA:EPA values in the northeastern area was lower than that in the southwestern area. Geographical differences in fatty acid components, DHA:EPA, and ω3:ω6 could have been caused by environmental factors as well as by regional differences in the quality and quantity of phytoplankton-produced organic matter. Non-metric multidimensional scaling of the main fatty acid components showed clear species and geographical differences. A permutational multivariate analysis of variance revealed significant differences among small pelagic fishes, micronekton, and squids. These results indicate that fatty acid analysis can be used to understand the ecology and ecosystem roles of various species.</div></div>","PeriodicalId":36894,"journal":{"name":"Aquaculture and Fisheries","volume":"10 2","pages":"Pages 238-252"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139300605","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":"Prevalence, molecular typing, antibiogram and histopathological changes of V. harveyi and V. parahaemolyticus isolated from Gilthead sea bream (Sparus aurata)","authors":"Salah M. Aly ,&nbsp;Noha I. ElBanna ,&nbsp;Mohamed A. Elatta ,&nbsp;Mai Hegazy ,&nbsp;Mohamed Fathi","doi":"10.1016/j.aaf.2023.11.002","DOIUrl":"10.1016/j.aaf.2023.11.002","url":null,"abstract":"<div><div>Vibrionaceae are a common bacterial disease that affects both wild and farmed marine fishes and causes tremendous economic losses globally. In order to investigate the prevalence, molecular typing, antibiogram and pathogenicity of vibriosis among cultured sea bream, two hundred and fifty Gilthead seabream (<em>Sparus aurata</em>) were collected randomly from different mariculture farms at Ismailia and Port Said Governorates. The collected fish were subjected to clinical, postmortem, bacteriological, and histopathological examinations. The majority of infected fish displayed ascites, hemorrhagic protruded anus, hemorrhages in pectoral, dorsal and tail fins, rotten gills, thinning of the head, discoloration of the skin, besides ulcer in the mouth and on the skin. The prevalence of Vibrio infection mostly was noticed at summer (35%) and spring (26%) then (22.5%) in autumn, where the kidney was the most predominant affected organ (45%). Vibrio <em>16s r</em>RNA gene PCR extension generated a 663 pb amplified DNA bands that characteristic for all tested vibrio isolates. Blasting identified as <em>V. harveyi</em> and the other <em>V. parahaemolyticus</em>. The histopathological examination of naturally infected Gilthead seabream exhibited mild to moderate vacuolar degeneration of the hepatic parenchyma with tubular-nephrosis and massive renal cellular destruction. The splenic tissues showed focal activated melanomacrophage centers. The antimicrobial sensitivity was carried out, where the recovered strains were completely sensitive to novobiocin and highly resistant to ampicillin. In conclusion, the synergism of phenotypic and genotypic characterization is a valuable epidemiological tool for the diagnosis of <em>Vibrio</em> species. Strict veterinary hygienic regulations should be implemented to control such infections and minimize the antimicrobial use in fish farms.</div></div>","PeriodicalId":36894,"journal":{"name":"Aquaculture and Fisheries","volume":"10 2","pages":"Pages 281-288"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139302222","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":"Polyculture of European seabass and Nile tilapia in the recirculating aquaculture system with brackish water: Effects on the growth performance, feed utilization, and health status","authors":"Mahmoud A.O. Dawood ,&nbsp;Khaled Madkour ,&nbsp;Hani Sewilam","doi":"10.1016/j.aaf.2023.11.001","DOIUrl":"10.1016/j.aaf.2023.11.001","url":null,"abstract":"<div><div>Non-traditional aquaculture practices are crucially needed to overcome the climate change consequences, especially in countries suffering from water shortages. Polyculture strategy depends on the diversification and compilation between different aquatic animal species to fasten farmed species' growth and improve available resources' utilization. In this study, European seabass and Nile tilapia were poly-cultured in brackish water (salinity 12) in a recirculating aquaculture system (RAS). For this reason, fish were distributed into five groups with triplicates in each. The first group (G1) of aquaria (120 L) was stocked with 40 specimens of European seabass, the second group (G2) was stocked with 30 specimens of European seabass + 10 specimens of Nile tilapia, the third group (G3) was stocked with 20 specimens of European seabass + 20 specimens of Nile tilapia, the fourth group (G4) stocked with 10 specimens of European seabass + 30 specimens of Nile tilapia, and the fifth group (G5) stocked with 40 specimens of Nile tilapia. The dissolved oxygen (DO), total ammonia nitrogen (TAN), and NH₃–N showed higher levels in G2, G3, G4, and G5 than in G1 (<em>P</em> &lt; 0.05). Except for G5, European seabass showed higher growth performance indices (FW, WG, and SGR) and lower FCR in G4 than in G1, G2, and G3 (<em>P</em> &lt; 0.05). On the other hand, Nile tilapia growing in G2 resulted in higher FW, WG, and SGR and lower FCR than in G3, G4, and G5 (<em>P</em> &lt; 0.05). The total biomass of poly-cultured European seabass and Nile tilapia is higher in G3 than in G1 and G5 (<em>P</em> &lt; 0.05). All groups had no significant differences in the somatic indices (P˃0.05). In European seabass, the crude protein and total lipids were significantly increased in fish compared to the initial carcass composition (<em>P</em> &lt; 0.05). Besides, in Nile tilapia, the total lipids were significantly increased in fish compared to the initial carcass composition (<em>P</em> &lt; 0.05). Furthermore, no significant differences were seen between all groups (<em>P</em>＞0.05) on the blood total protein, albumin, globulin, ALT, and AST. In conclusion, the polyculture strategy is appropriate for farming European seabass and Nile tilapia in RAS with brackish water without compromising growth performance, health status, and survivability.</div></div>","PeriodicalId":36894,"journal":{"name":"Aquaculture and Fisheries","volume":"10 2","pages":"Pages 298-304"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139291982","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":"Expert consensus on clinical genome sequencing interpretation and reporting.","authors":"Yulan Lu, Guozhuang Li, Yaqiong Wang, Kexin Xu, Xinran Dong, Jihao Cai, Bingbing Wu, Huijun Wang, Ping Fang, Jian Wang, Hua Wang, Luming Sun, Yongyu Ye, Qing Li, Yaping Liu, Li Liu, Ning Liu, Jiaqi Liu, Fang Song, Lin Yang, Zhengqing Qiu, Zefu Chen, Huaxia Luo, Dan Guo, Chanjuan Hao, Sen Zhao, Shangzhi Huang, Jing Peng, Xiaoqiang Cai, Ruifang Sui, Linkang Li, Nan Wu, Wenhao Zhou, Shuyang Zhang","doi":"10.16288/j.yczz.24-296","DOIUrl":"10.16288/j.yczz.24-296","url":null,"abstract":"<p><p>Genome sequencing (GS) refers to a technology that comprehensively and systematically detects the DNA sequences of an individual's nuclear and mitochondrial genomes. It aims to identify genetic variants and investigate their roles in human health and disease progression. As an emerging diagnostic tool, GS offers significant support for clinical diagnosis due to its high throughput, accuracy, and comprehensiveness. However, the complexity of data analysis and interpretation requires substantial professional expertise and experience, posing considerable challenges. When applying GS technology for molecular diagnosis of genetic diseases, ethical and technical issues related to clinical application arise, including informed consent, diagnostic data interpretation, and defining the scope and content of clinical reports. This expert consensus outlines the core workflow of clinical genome sequencing (cGS), clarifies its testing scope and technical limitations, and provides key steps for data quality control, analysis, annotation, and variant interpretation. It also addresses controversial issues related to report content and informed consent. This consensus aims to assist professionals in accurately understanding and appropriately utilizing clinical genome sequencing, thereby improving diagnostic accuracy for genetic diseases, enhancing the clinical utility of the technology, and advancing medical scientific research.</p>","PeriodicalId":35536,"journal":{"name":"遗传","volume":"47 3","pages":"314-328"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143606517","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":"Myricetin inhibits Micropterus salmoides rhabdovirus infection by damping inflammation through the NF-κB pathway","authors":"Zhiwen Wang ,&nbsp;Ping Deng ,&nbsp;Zemao Gu ,&nbsp;Lijuan Li ,&nbsp;Junfa Yuan","doi":"10.1016/j.aaf.2023.08.004","DOIUrl":"10.1016/j.aaf.2023.08.004","url":null,"abstract":"<div><div>Largemouth bass have been plagued by diseases elicited by bacteria, parasites, and viruses, particularly viral diseases, which have caused significant economic losses in recent years. And there is a lack of approved antiviral drugs in the aquaculture industry. <em>Micropterus salmoides</em> Rhabdovirus (MSRV) is the causative agent of <em>Micropterus salmoides</em> Rhabdovirus disease, which mostly affects largemouth bass fry. By using experimental infection, transcriptome sequencing, and inhibitor treatment, the inflammatory response mediated by mitogen-activated protein kinase (MAPK), phosphatidylinositol3-kinase (PI3K), and nuclear factor kappa-B (NF-κB) pathways was verified as one of the pathological processes of MSRV infection. Further, Myricetin, arteannuin, naringenin, ursolic acid, andrographolide, and resveratrol were selected to evolute their anti-inflammatory activity based on the promoter of NF-κB and found myricetin, naringenin, andrographolide, and resveratrol significantly inhibited NF-κB 1 promoter activity. Myricetin was found to damp MSRV caused-inflammation and inhibit MSRV infection by suppressing NF-κB signaling. Besides, myricetin improves the survival rate of largemouth bass after MSRV infection. In conclusion, myricetin presented anti-MSRV activity by targeting the NF-κB inflammatory pathway and can be further developed as a potential preventative drug of rhabdovirus disease.</div></div>","PeriodicalId":36894,"journal":{"name":"Aquaculture and Fisheries","volume":"10 2","pages":"Pages 271-280"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135433954","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":"Wheat wide hybridization and chromosome engineering breeding in China.","authors":"Qi Zheng, Li Zhao, Bin Li, Hongwei Li, Wanquan Ji, Xueyong Zhang","doi":"10.16288/j.yczz.24-334","DOIUrl":"10.16288/j.yczz.24-334","url":null,"abstract":"<p><p>As the second important staple crop next to rice in China, common wheat (<i>Triticum aestivum</i>) plays a decisive role in national food security. Wild and semi-wild relatives of wheat provide abundant genetic resources for wheat genetic improvement. In China, wheat wide hybridization and chromosome engineering breeding initiated in the 1950s and developed into a well-defined theoretical and technical system over the next three decades through learning, exploration and practice. Subsequently, the technological innovation in alien chromatin identification and the isolation and analysis of alien resistance genes sponsored by continuous national projects have significantly enhanced China's impact on the world in this field. Eminent scientists such as Professor Li Zhensheng, who was awarded the Medal of the Republic before the National Day in 2024, have made outstanding contributions to the establishment and development of the research in this area in China. This article reviews the history of wheat wide hybridization and chromosome engineering breeding in China, aiming to honor the senior scientists and inspire future researchers to work hard in germplasm innovation and alien gene transfer, cloning and utilization in breeding.</p>","PeriodicalId":35536,"journal":{"name":"遗传","volume":"47 3","pages":"289-299"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143606562","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":"Interpretation of <i>de novo</i> mutations (DNM) and genetic counseling for sporadic hearing loss based on family trio-based sequencing.","authors":"Jing Guan, XiaonanWu, Jin Li, Guohui Chen, Hongyang Wang, Qiuju Wang","doi":"10.16288/j.yczz.24-228","DOIUrl":"10.16288/j.yczz.24-228","url":null,"abstract":"<p><p><i>De novo</i> mutations (DNMs) are significant genetic factors contributing to sporadic hearing loss (HL) and complex HL syndromes. To analyze the genetic counseling characteristics and interpretation of pathogenic DNMs for sporadic HL, we retrospectively analyze the clinical information of probands and their parents from 410 sporadic HL core pedigrees enrolled in the \"Chinese Deafness Genome Project (CDGP)\" between October 2015 and October 2023. We apply family trio-based genome sequencing (targeted gene capture and high throughput sequencing, mitochondrial genome sequencing, and copy number variants analysis) and validate the samples of their unaffected-parents. Homologous allele sequencing is used to identity by descent (IBD) in the DNM family trios. The results reveal that 7.3% (30 cases) of the probands in these sporadic hearing loss core pedigrees carry 17 types of autosomal dominant gene <i>de novo</i> single nucleotide variants (SNVs), insertions/deletions (Indels), and one type of <i>de novo</i> copy number variation, encompassing all types of DNM. Among them, <i>WFS1</i> c.2051C>T, <i>ATP1A3</i> c.2452G>A, and <i>ACTG1</i> c.94C>T are common DNM in sporadic HL. The genotype C>T transversion exhibit a high number (34.6%). Clinical feature analyses also show that 56.7% (17/30) of the probands have non-syndromic HL, but more than half of them (52.9%, 9/17) carry pathogenic genotypes clearly associated with \"syndromic HL\", possibly exhibiting temporary \"mimic\" non-syndromic HL phenotypic characteristics. The average parental ages at childbirth for the 30 probands are 29.4 years for fathers and 28.3 years for mothers, with 13.3% of fathers or mothers aged ≥35 years. Additionally, among the family structure of the proband of genetic counseling, 63.3% are single-child families with a clear desire for another child, and 16.7% of the probands' parents seek prenatal genetic counseling for conceiving a \"second child\". During genetic counseling, it is essential to test the \"family proband-parents' trios\" core pedigree as a unit to analyze the genetic contribution of DNMs to HL. Furthermore, there is a certain correlation between the occurrence of DNMs and increasing parental age at childbirth. Therefore, for families with a history of DNM-associated sporadic HL, it is necessary to collect clinical information such as the parental age at childbirth and obstetric history of hearing-healthy parents. For these families planning another child, it is recommended to undergo prenatal diagnosis for the identified DNM pathogenic variations after conception and pay attention to the pregnancy outcome.</p>","PeriodicalId":35536,"journal":{"name":"遗传","volume":"47 3","pages":"329-341"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143606548","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}