Estimation of Wilson's Disease Incidence and Carrier Frequency in the Korean Population by ScreeningATP7BMajor Mutations in Newborn Filter Papers Using the SYBR Green Intercalator Method Based on the Amplification Refractory Mutation System
pmid: 18652531
Estimation of Wilson's Disease Incidence and Carrier Frequency in the Korean Population by ScreeningATP7BMajor Mutations in Newborn Filter Papers Using the SYBR Green Intercalator Method Based on the Amplification Refractory Mutation System
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.
- University of Ulsan Korea (Republic of)
- Asan Medical Center Korea (Republic of)
Adenosine Triphosphatases, Paper, Korea, Genetic Carrier Screening, Incidence, Infant, Newborn, Mutation, Missense, Polymerase Chain Reaction, Gene Frequency, Hepatolenticular Degeneration, Population Groups, Copper-Transporting ATPases, Mutation, Humans, Genetic Testing, Organic Chemicals, Cation Transport Proteins
Adenosine Triphosphatases, Paper, Korea, Genetic Carrier Screening, Incidence, Infant, Newborn, Mutation, Missense, Polymerase Chain Reaction, Gene Frequency, Hepatolenticular Degeneration, Population Groups, Copper-Transporting ATPases, Mutation, Humans, Genetic Testing, Organic Chemicals, Cation Transport Proteins
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