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Estimation of Wilson's disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system.
- Source :
-
Genetic testing [Genet Test] 2008 Sep; Vol. 12 (3), pp. 395-9. - Publication Year :
- 2008
-
Abstract
- Wilson's disease (WD), an autosomal recessive disorder of copper transport, is one of the most common inherited metabolic disorders in Korea. Despite its frequency, the incidence and carrier frequency of WD has not yet been estimated in the Korean population. We therefore screened for four major missense mutations (p.Arg778Leu, p.Ala874Val, p.Leu1083Phe, and p.Asn1270Ser) of the ATP7B gene in 476 newborn filter papers by real-time multiplex PCR and melting curve analysis using the SYBR Green intercalator method based on the amplification refractory mutation system test. Newborn filter papers with abnormal melting curves were subjected to subsequent sequence analysis. Three mutated alleles, one p.Arg778Leu and two p.Ala874Val, were detected among the 476 newborn filter papers (952 alleles). The carrier frequency and incidence of WD in the Korean population were determined as 1 in 88.2 and 30,778, respectively, by reversely calculating based on the Hardy-Weinberg law.
- Subjects :
- Copper-Transporting ATPases
Hepatolenticular Degeneration diagnosis
Humans
Incidence
Infant, Newborn
Korea epidemiology
Mutation, Missense
Organic Chemicals
Adenosine Triphosphatases genetics
Cation Transport Proteins genetics
Gene Frequency
Genetic Carrier Screening
Genetic Testing methods
Hepatolenticular Degeneration epidemiology
Hepatolenticular Degeneration genetics
Mutation
Paper
Polymerase Chain Reaction methods
Population Groups genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1090-6576
- Volume :
- 12
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Genetic testing
- Publication Type :
- Academic Journal
- Accession number :
- 18652531
- Full Text :
- https://doi.org/10.1089/gte.2008.0016