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      https://www.ias.ac.in/article/fulltext/jgen/096/06/0933-0939

    • Keywords

       

      ATP7B gene; Wilson disease; mutation hot spot; pSer105Ter; Vietnam.

    • Abstract

       

      Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. The gene responsible for WD was discovered in 1993 and is located on chromosome 13 at 13q14.3. It encodes a copper-specific transporting P-type ATPase. Early diagnosis can improve treatment outcome and decrease the rate of disability or even mortality.We used Sanger sequencing to identify mutation hot spots in 55 northern Vietnamese with a clinical diagnosis of WD. Mutations were screened and detected by direct DNA sequencing. A total of 26 different ATP7B gene mutations were identified, including seven novel mutations (five nonsense and two missense mutations). The most frequent mutations were p.Ser105Ter (24.55%), p.Arg778Leu (5.45%) and p.Thr850Ile (4.55%). Mutation detection rate in exon 2 was 34.55% and ranked first, followed by exon 8 with 16.36%, and exon 18 with 10.91% each, thus, exons 2, 8 and 18 are the mutation hot spots for northern VietnameseWD patients. These findings were different from previousstudies in Asia. Our research established a suitable strategy for ATP7B gene testing in northern Vietnamese WD patients.

    • Author Affiliations

       

      LE ANH TUAN PHAM1 TRONG TUE NGUYEN1 HOANG BICH NGA LE1 DAT QUOC TRAN1 CAM TU HO1 THINH HUY TRAN1 2 VAN THANH TA1 2 THE HUNG BUI3 VAN KHANH TRAN1

      1. Center for Gene-Protein Research, Hanoi Medical University, Hanoi 100000, Vietnam
      2. Department of Biochemistry, Hanoi Medical University, Hanoi 100000, Vietnam
      3. Clinical Genetics Unit, Department of Molecular Medicine, Karolinska Institutet, Karolinska University Hospital, 17176 Stockholm, Sweden
    • Dates

       
  • Journal of Genetics | News

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