Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B
| Autor: | Le Anh Tuan Pham, Trong Tue Nguyen, Hoang Bich Nga Le, Dat Quoc Tran, Cam Tu Ho, Thinh Huy Tran, Van Thanh Ta, The Hung Bui, Van Khanh Tran |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Adult Male DNA Mutational Analysis Biology medicine.disease_cause Genetic analysis DNA sequencing 03 medical and health sciences symbols.namesake Exon 0302 clinical medicine Hepatolenticular Degeneration Genetics medicine Missense mutation Humans Genetic Testing Gene Chromosome 13 Sanger sequencing Mutation Exons Sequence Analysis DNA 030104 developmental biology Vietnam Copper-Transporting ATPases symbols 030217 neurology & neurosurgery |
| Zdroj: | Journal of genetics. 96(6) |
| ISSN: | 0973-7731 |
| Popis: | 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 previous studies in Asia. Our research established a suitable strategy for ATP7B gene testing in northern Vietnamese WD patients. |
| Databáze: | OpenAIRE |
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