[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"_public_publisher_byId_d9bdf9c6-9ee2-4faa-bf2e-9397c883e2f5":3,"_public_publication_all{\"sortAscending\":false,\"sortField\":\"updateTime\",\"page\":0,\"size\":10,\"facet\":true,\"searchKey\":\"publisherId:d9bdf9c6-9ee2-4faa-bf2e-9397c883e2f5,\"}":24},{"code":4,"data":5,"meta":17},"SUCCESS",{"id":6,"createTime":7,"updateTime":7,"relativeEntities":8,"slug":9,"properties":10,"entityType":15,"verifyStatus":16,"verifyTime":17,"verifyNote":17,"syncStatus":16,"languages":17,"translateLanguages":17,"viewCount":18,"subjectFields":19,"manageAffiliations":20,"indexDatabases":21,"url":22,"thumbnailPath":17,"statistic":17,"gsStatistic":17,"type":23,"analyzePriority":17},"d9bdf9c6-9ee2-4faa-bf2e-9397c883e2f5","2025-10-14T02:39:54.832+00:00",[],"T%E1%BA%A1p-ch%C3%AD-Nghi%C3%AAn-c%E1%BB%A9u-Y-h%E1%BB%8Dc",{"issn":11,"title":13},{"VOID":12},"2354080X",{"VOID":14},"Tạp chí Nghiên cứu Y học","PUBLISHER","PENDING",null,0,[],[],[],"https:\u002F\u002Ftapchinghiencuuyhoc.vn\u002Findex.php\u002Ftcncyh","JOURNAL",{"meta":25,"data":27},{"total":26},"1",[28],{"id":29,"createTime":30,"updateTime":31,"relativeEntities":32,"slug":33,"properties":34,"entityType":45,"verifyStatus":16,"verifyTime":46,"verifyNote":47,"syncStatus":16,"languages":48,"translateLanguages":17,"viewCount":18,"primaryUrl":50,"fullTextUrl":51,"authors":52,"publicationType":116,"publisherRelationship":117,"citationCount":17,"citationInfo":17,"publishDate":133,"publishYear":134,"citationAnalyzeStatus":16,"lastCitationAnalyze":17,"indexDatabases":17,"openAccess":17,"references":135,"isForceReanalyzing":154},"eb94fcbf-0deb-470b-99f2-c00dfa077dd1","2025-10-06T19:47:24.679+00:00","2025-10-14T02:39:54.755+00:00",[],"7-T%E1%BB%B7-l%E1%BB%87-mang-gen-v%C3%A0-ph%E1%BB%95-bi%E1%BA%BFn-th%E1%BB%83-gen-ATP7B-g%C3%A2y-b%E1%BB%87nh-Wilson-%E1%BB%9F-thai-ph%E1%BB%A5-Vi%E1%BB%87t-Nam-Nghi%C3%AAn-c%E1%BB%A9u-tr%C3%AAn-8464-tr%C6%B0%E1%BB%9Dng-h%E1%BB%A3p",{"keywords":35,"abstract":37,"title":40,"doi":43},{"VI":36},"Biến thể gen ATP7B, bệnh Wilson, thai phụ Việt Nam",{"VI":38,"EN":39},"Bệnh Wilson là một rối loạn di truyền lặn trên nhiễm sắc thể thường, có nguyên nhân do đột biến tại gen ATP7B. Nghiên cứu nhằm xác định tỷ lệ người mang gen và phổ biến thể của gen ATP7B trên quần thể thai phụ Việt Nam tự nguyện tham gia chương trình sàng lọc trong giai đoạn từ tháng 11\u002F2023 đến tháng 1\u002F2025. Phương pháp giải trình tự gen thế hệ mới (NGS) được sử dụng để phát hiện các biến thể. Kết quả cho thấy có 215 trường hợp mang ít nhất một alen đột biến, chiếm tỷ lệ 2,54% (tương đương 1\u002F40). Tổng cộng 217 alen đột biến được ghi nhận, bao gồm 40 biến thể khác nhau phân bố trên 13 exon và 4 intron của gen ATP7B. Trong đó, các đột biến sai nghĩa chiếm ưu thế (78,8%) và tập trung chủ yếu tại các exon 10, 12, 2 và 8. Tỷ lệ mang gen tương đối cao và phổ biến thể đa dạng cho thấy sự cần thiết của việc tăng cường truyền thông giáo dục y học cộng đồng, đồng thời củng cố vai trò của các chương trình sàng lọc và tư vấn di truyền trong chiến lược dự phòng bệnh Wilson.","Wilson’s disease is an autosomal recessive disorder caused by mutations in the ATP7B gene. This study aimed to determine the carrier frequency and spectrum of ATP7B variants among a cohort of Vietnamese pregnant women who voluntarily participated in a genetic screening program conducted from November 2023 to January 2025. Next-generation sequencing (NGS) was employed to identify pathogenic variants. The results revealed that 215 individuals carried at least one mutant allele, corresponding to a carrier frequency of 2.54% (approximately 1 in 40). A total of 217 mutant alleles were identified, comprising 40 distinct variants distributed across 13 exons and 4 introns of the ATP7B gene. Among these, missense variants were predominant (78.8%), with the highest frequencies located in exons 10, 12, 2, and 8. The relatively high carrier rate and the diverse variants spectrum underscore the need to enhance public health education about Wilson’s disease and to strengthen genetic screening and counseling programs as part of preventive healthcare strategies.",{"VI":41,"EN":42},"7. Tỷ lệ mang gen và phổ biến thể gen ATP7B gây bệnh Wilson ở thai phụ Việt Nam: Nghiên cứu trên 8464 trường hợp","7. Carrier frequency and spectrum of pathogenic ATP7B variants in pregnant Vietnamese women: A study of 8,464 cases",{"VOID":44},"10.52852\u002Ftcncyh.v194i9.3879","PUBLICATION","2025-10-06T19:47:24.669+00:00","Author affiliation is blank",[49],"VI","https:\u002F\u002Ftapchinghiencuuyhoc.vn\u002Findex.php\u002Ftcncyh\u002Farticle\u002Fview\u002F3879","https:\u002F\u002Ftapchinghiencuuyhoc.vn\u002Findex.php\u002Ftcncyh\u002Farticle\u002Fdownload\u002F3879\u002F2627",[53,61,69,77,85,93,101,109],{"id":54,"sortIndex":55,"researcher":17,"roles":56,"affiliations":57,"properties":58},"2cad721e-7ef6-4d33-8281-0301c8bfeafe",3,[],[],{"title":59},{"EN":60},"Nguyễn Ngọc Thơ",{"id":62,"sortIndex":63,"researcher":17,"roles":64,"affiliations":65,"properties":66},"09ff2ec4-5768-4c4b-b68d-ccb0da3b614f",2,[],[],{"title":67},{"EN":68},"Phạm Quang Anh",{"id":70,"sortIndex":71,"researcher":17,"roles":72,"affiliations":73,"properties":74},"d1f5aaa5-73a9-4682-a8fd-4d180e7bd0a0",6,[],[],{"title":75},{"EN":76},"Phạm Phương Linh",{"id":78,"sortIndex":79,"researcher":17,"roles":80,"affiliations":81,"properties":82},"71462007-0524-47ad-a0c4-1fe8c7f5e296",5,[],[],{"title":83},{"EN":84},"Nguyễn Tiến Lộc",{"id":86,"sortIndex":87,"researcher":17,"roles":88,"affiliations":89,"properties":90},"1c406a7d-51fd-445a-b84d-feb11ea2103b",7,[],[],{"title":91},{"EN":92},"Nguyễn Thị Trang",{"id":94,"sortIndex":95,"researcher":17,"roles":96,"affiliations":97,"properties":98},"00206b06-731a-43c9-a988-e184f5324e54",4,[],[],{"title":99},{"EN":100},"Trần Hiểu Phong",{"id":102,"sortIndex":103,"researcher":17,"roles":104,"affiliations":105,"properties":106},"b5c93386-2419-4c36-a8d5-0e54c9a93f0e",1,[],[],{"title":107},{"EN":108},"Lê Hoàng Đan",{"id":110,"sortIndex":18,"researcher":17,"roles":111,"affiliations":112,"properties":113},"a558e6ac-60ae-425a-adf7-cec922b86aa4",[],[],{"title":114},{"EN":115},"Nguyễn Đoan Trang","ARTICLE",{"url":17,"publisher":118,"properties":126},{"id":6,"createTime":7,"updateTime":7,"relativeEntities":119,"slug":9,"properties":120,"entityType":15,"verifyStatus":16,"verifyTime":17,"verifyNote":17,"syncStatus":16,"languages":17,"translateLanguages":17,"viewCount":18,"subjectFields":123,"manageAffiliations":124,"indexDatabases":125,"url":22,"thumbnailPath":17,"statistic":17,"gsStatistic":17,"type":23,"analyzePriority":17},[],{"issn":121,"title":122},{"VOID":12},{"VOID":14},[],[],[],{"volume":127,"pages":129,"issue":131},{"VOID":128},"194",{"VOID":130},"56-64",{"VOID":132},"9","2025-09-30",2025,[136,138,140,142,144,146,148,150,152],{"id":17,"text":137,"url":17,"identifiers":17},"Das SK, Ray K. Wilson’s disease: An update. Nat Clin Pract Neurol. 2006; 2(9): 482-493. doi:10.1038\u002Fncpneuro0291.",{"id":17,"text":139,"url":17,"identifiers":17},"Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: An update. Hepatology. 2008; 47(6): 2089-2111. doi:10.1002\u002FHEP.22261.",{"id":17,"text":141,"url":17,"identifiers":17},"Sandahl TD, Laursen TL, Munk DE, Vilstrup H, Weiss KH, Ott P. The Prevalence of Wilson’s Disease: An Update. Hepatology. 2020; 71(2): 722-732. doi:10.1002\u002Fhep.30911.",{"id":17,"text":143,"url":17,"identifiers":17},"Bandmann O, Weiss KH, Kaler SG. Wilson’s disease and other neurological copper disorders. Lancet Neurol. 2015; 14(1): 103-113. doi:10.1016\u002FS1474-4422(14)70190-5\u002FASSET\u002FEA11EBAC-9E97-472A-8739-037710501F6D\u002FMAIN.ASSETS\u002FGR3.SML",{"id":17,"text":145,"url":17,"identifiers":17},"To-Mai XH, Nguyen HT, Nguyen-Thi TT, et al. Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening. Sci Rep. 2024; 14(1): 1-9. doi:10.1038\u002Fs41598-024-57513-0.",{"id":17,"text":147,"url":17,"identifiers":17},"Own-eium P, Dejsuphong D, Vathesatogkit P, et al. Investigating common mutations in ATP7B gene and the prevalence of Wilson’s disease in the Thai population using population-based genome-wide datasets. J Hum Genet. 2024; 70(1). doi:10.1038\u002Fs10038-024-01292-z.",{"id":17,"text":149,"url":17,"identifiers":17},"Huong NTM, Hoa NPA, Ngoc ND, et al. Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam. Mol Genet Metab Rep. 2022; 31. doi:10.1016\u002Fj.ymgmr.2022.100861.",{"id":17,"text":151,"url":17,"identifiers":17},"Gao J, Brackley S, Mann JP. The global prevalence of Wilson disease from next-generation sequencing data. Genetics in Medicine. 2019; 21(5): 1155-1163. doi:10.1038\u002Fs41436-018-0309-9.",{"id":17,"text":153,"url":17,"identifiers":17},"Cheng N, Wang H, Wu W, et al. Spectrum of ATP7B mutations and genotype–phenotype correlation in large-scale Chinese patients with Wilson Disease. Clin Genet. 2017; 92(1): 69-79. doi:https:\u002F\u002Fdoi.org\u002F10.1111\u002Fcge.12951.",false]