Mutation Analysis of the ATP7B Gene in 43 Vietnamese Wilson鈥檚 Disease Patients

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Gene in 43 Vietnamese Wilson鈥檚 Disease Patients</title> <meta name="description" content="Mutation Analysis of the ATP7B Gene in 43 Vietnamese Wilson鈥檚 Disease Patients"> <meta name="keywords" content="ATP7B gene, mutation detection, presymptomatic diagnosis, Vietnamese Wilson鈥檚 disease"> <meta name="viewport" content="width=device-width, initial-scale=1, minimum-scale=1, maximum-scale=1, user-scalable=no"> <meta charset="utf-8"> <link href="https://cdn.waset.org/favicon.ico" type="image/x-icon" rel="shortcut icon"> <link href="https://cdn.waset.org/static/plugins/bootstrap-4.2.1/css/bootstrap.min.css" rel="stylesheet"> <link href="https://cdn.waset.org/static/plugins/fontawesome/css/all.min.css" rel="stylesheet"> <link href="https://cdn.waset.org/static/css/site.css?v=150220211555" rel="stylesheet"> </head> <body> <header> <div class="container"> <nav class="navbar navbar-expand-lg navbar-light"> <a class="navbar-brand" href="https://waset.org"> <img 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<main> <div class="container mt-4"> <div class="row"> <div class="col-md-9 mx-auto"> <form method="get" action="https://publications.waset.org/abstracts/search"> <div id="custom-search-input"> <div class="input-group"> <i class="fas fa-search"></i> <input type="text" class="search-query" name="q" placeholder="Author, Title, Abstract, Keywords" value=""> <input type="submit" class="btn_search" value="Search"> </div> </div> </form> </div> </div> <div class="row mt-3"> <div class="col-sm-3"> <div class="card"> <div class="card-body"><strong>Commenced</strong> in January 2007</div> </div> </div> <div class="col-sm-3"> <div class="card"> <div class="card-body"><strong>Frequency:</strong> Monthly</div> </div> </div> <div class="col-sm-3"> <div class="card"> <div class="card-body"><strong>Edition:</strong> International</div> </div> </div> <div class="col-sm-3"> <div class="card"> <div class="card-body"><strong>Paper Count:</strong> 87416</div> </div> </div> </div> <div class="card publication-listing mt-3 mb-3"> <h5 class="card-header" style="font-size:.9rem">Mutation Analysis of the ATP7B Gene in 43 Vietnamese Wilson鈥檚 Disease Patients</h5> <div class="card-body"> <p class="card-text"><strong>Authors:</strong> <a href="https://publications.waset.org/abstracts/search?q=Huong%20M.%20T.%20Nguyen">Huong M. T. Nguyen</a>, <a href="https://publications.waset.org/abstracts/search?q=Hoa%20A.%20P.%20Nguyen"> Hoa A. P. Nguyen</a>, <a href="https://publications.waset.org/abstracts/search?q=Mai%20P.%20T.%20Nguyen"> Mai P. T. Nguyen</a>, <a href="https://publications.waset.org/abstracts/search?q=Ngoc%20D.%20Ngo"> Ngoc D. Ngo</a>, <a href="https://publications.waset.org/abstracts/search?q=Van%20T.%20Ta"> Van T. Ta</a>, <a href="https://publications.waset.org/abstracts/search?q=Hai%20T.%20Le"> Hai T. Le</a>, <a href="https://publications.waset.org/abstracts/search?q=Chi%20V.%20Phan"> Chi V. Phan</a> </p> <p class="card-text"><strong>Abstract:</strong></p> Wilson’s disease (WD) is an autosomal recessive disorder of the copper metabolism, which is caused by a mutation in the copper-transporting P-type ATPase (<em>ATP7B</em>). The mechanism of this disease is the failure of hepatic excretion of copper to bile, and leads to copper deposits in the liver and other organs. The <em>ATP7B</em> gene is located on the long arm of chromosome 13 (13q14.3). This study aimed to investigate the gene mutation in the Vietnamese patients with WD, and make a presymptomatic diagnosis for their familial members. Forty-three WD patients and their 65 siblings were identified as having <em>ATP7B</em> gene mutations. Genomic DNA was extracted from peripheral blood samples; 21 exons and exon-intron boundaries of the <em>ATP7B</em> gene were analyzed by direct sequencing. We recognized four mutations ([R723=; H724Tfs*34], V1042Cfs*79, D1027H, and IVS6+3A>G) in the sum of 20 detectable mutations, accounting for 87.2% of the total. Mutation S105* was determined to have a high rate (32.6%) in this study. The hotspot regions of <em>ATP7B</em> were found at exons 2, 16, and 8, and intron 14, in 39.6 %, 11.6 %, 9.3%, and 7 % of patients, respectively. Among nine homozygote/compound heterozygote siblings of the patients with WD, three individuals were determined as asymptomatic by screening mutations of the probands. They would begin treatment after diagnosis. In conclusion, 20 different mutations were detected in 43 WD patients. Of this number, four novel mutations were explored, including [R723=; H724Tfs*34], V1042Cfs*79, D1027H, and IVS6+3A>G. The mutation S105* is the most prevalent and has been considered as a biomarker that can be used in a rapid detection assay for diagnosis of WD patients. Exons 2, 8, and 16, and intron 14 should be screened initially for WD patients in Vietnam. Based on risk profile for WD, genetic testing for presymptomatic patients is also useful in diagnosis and treatment. <iframe src="https://publications.waset.org/abstracts/58250.pdf" style="width:100%; height:400px;" frameborder="0"></iframe> <p class="card-text"><strong>Keywords:</strong> <a href="https://publications.waset.org/abstracts/search?q=ATP7B%20gene" title="ATP7B gene">ATP7B gene</a>, <a href="https://publications.waset.org/abstracts/search?q=mutation%20detection" title=" mutation detection"> mutation detection</a>, <a href="https://publications.waset.org/abstracts/search?q=presymptomatic%20diagnosis" title=" presymptomatic diagnosis"> presymptomatic diagnosis</a>, <a href="https://publications.waset.org/abstracts/search?q=Vietnamese%20Wilson%E2%80%99s%20disease" title=" Vietnamese Wilson鈥檚 disease"> Vietnamese Wilson鈥檚 disease</a> </p> <a href="https://publications.waset.org/abstracts/58250/mutation-analysis-of-the-atp7b-gene-in-43-vietnamese-wilsons-disease-patients" 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Mutation Analysis of the ATP7B Gene in 43 Vietnamese Wilson鈥檚 Disease Patients