title: 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.
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.
authors.affiliation: Medical Genetics Clinic and Laboratory, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Gu-Hwan
authors.initials: GH
authors.lastname: Kim
authors.forename: Jeong Yoon
authors.initials: JY
authors.lastname: Yang
authors.forename: Jung-Young
authors.initials: JY
authors.lastname: Park
authors.forename: Jin Joo
authors.initials: JJ
authors.lastname: Lee
authors.forename: Ju Hyun
authors.initials: JH
authors.lastname: Kim
authors.forename: Han-Wook
authors.initials: HW
authors.lastname: Yoo
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D027682:Cation Transport Proteins / Q000235:genetics*; D000073840:Copper-Transporting ATPases; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D005820:Genetic Testing / Q000379:methods*; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D007723:Korea / Q000453:epidemiology; D009154:Mutation; D020125:Mutation, Missense; D009930:Organic Chemicals; D010209:Paper; D016133:Polymerase Chain Reaction / Q000379:methods*; D044382:Population Groups / Q000235:genetics*
chemical_list: D027682:Cation Transport Proteins; D009930:Organic Chemicals; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases