title: Rapid detection of mutations in Wilson disease gene ATP7B by DNA strip technology.
abstract: Wilson disease leads to severe hepatic and neurological pathology resulting from cellular copper overload in the respective tissue. Although the affected gene, ATP7B, has been identified, genetic testing is challenging, time-consuming and expensive. Here we describe the development and use of a novel diagnostic test for four frequent mutations (M769V, W779X, H1069Q and P1134P-fs) found in Germany and many other countries in Europe. The test is based on multiplex polymerase chain reaction and DNA strip technology and was found to be highly sensitive and specific, as well as timely and cost-effective. We conclude that this test is a useful and reliable tool to screen Wilson disease patients and their family members for these mutations and may facilitate diagnosis in this complex disease.
authors.affiliation: Department of Medicine II, University of Leipzig, Germany.
authors.forename: Dominik
authors.initials: D
authors.lastname: Huster
authors.forename: Michael
authors.initials: M
authors.lastname: Weizenegger
authors.forename: Stefan
authors.initials: S
authors.lastname: Kress
authors.forename: Joachim
authors.initials: J
authors.lastname: Mössner
authors.forename: Karel
authors.initials: K
authors.lastname: Caca
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000469:Alkaline Phosphatase / Q000737:chemistry; D001426:Bacterial Proteins / Q000032:analysis; D001710:Biotin / Q000031:analogs & derivatives* / Q000032:analysis; D019921:Biotinylation; D027682:Cation Transport Proteins / Q000235:genetics*; D000073840:Copper-Transporting ATPases; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D004252:DNA Mutational Analysis / Q000295:instrumentation / Q000379:methods*; D017931:DNA Primers / Q000737:chemistry / Q000235:genetics; D005838:Genotype; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D009693:Nucleic Acid Hybridization / Q000235:genetics / Q000379:methods; D011237:Predictive Value of Tests; D011934:Reagent Strips; D012680:Sensitivity and Specificity
chemical_list: D001426:Bacterial Proteins; D027682:Cation Transport Proteins; D017931:DNA Primers; D011934:Reagent Strips; C066114:biotin-streptavidin complex; D001710:Biotin; D004247:DNA; D000469:Alkaline Phosphatase; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases