title: Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome.
abstract: Familial high-density lipoprotein (HDL)-deficiency syndromes are caused by mutations of the ABCA1 gene, coding for the ATP-binding cassette transporter 1. We have developed a homogeneous assay based on 52 primer sets to amplify all 50 ABCA1 exons and approximately 1 kb of its promoter. The assay allows for convenient amplification of the gene from genomic DNA and easy mutational analysis through automatic sequencing. It obviates the need to use mRNA preparations, which were difficult to handle and posed a risk to miss splice junction or promoter mutations. The application of the test to the molecular analysis of a new patient with familial HDL-deficiency (Tangier disease) led to a discovery of two novel ABCA1 mutations: C2665del and C4457T.
authors.affiliation: Institute for Clinical Chemistry and Laboratory Medicine, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93042 Regensburg, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Lapicka-Bodzioch
authors.forename: M
authors.initials: M
authors.lastname: Bodzioch
authors.forename: M
authors.initials: M
authors.lastname: Krüll
authors.forename: D
authors.initials: D
authors.lastname: Kielar
authors.forename: M
authors.initials: M
authors.lastname: Probst
authors.forename: B
authors.initials: B
authors.lastname: Kiec
authors.forename: H
authors.initials: H
authors.lastname: Andrikovics
authors.forename: A
authors.initials: A
authors.lastname: Böttcher
authors.forename: J
authors.initials: J
authors.lastname: Hubacek
authors.forename: C
authors.initials: C
authors.lastname: Aslanidis
authors.forename: N
authors.initials: N
authors.lastname: Suttorp
authors.forename: G
authors.initials: G
authors.lastname: Schmitz
mesh_terms: D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D017931:DNA Primers; D006801:Humans; D007009:Hypolipoproteinemias / Q000097:blood / Q000235:genetics*; D008075:Lipoproteins, HDL / Q000097:blood*; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D013577:Syndrome
chemical_list: C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters; D017931:DNA Primers; D008075:Lipoproteins, HDL