title: Detection of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography.
abstract: The present study reports a method for the easy, rapid and cost effective detection of heterozygous large deletions. As a model gene all exons of the antithrombin gene were amplified in a one tube multiplex polymerase chain reaction (PCR) and the products separated according to their size by reverse-phase ion-pair high performance liquid chromatography. A significant reduction in the height of a peak in the probandOs sample compared to in the control indicates the presence of a large deletion of the corresponding allele. Using this approach we identified heterozygous deletions in four patients: the deletions affected exons 1 and 2, exon 7 and the whole antithrombin gene.
authors.affiliation: Institute of Transfusion Medicine and Immunohaematolgy, DRK Blood Donor Service Baden-Württemberg-Hessen, 60526 Frankfurt/M, Germany.
authors.forename: Anna
authors.initials: A
authors.lastname: Pavlova
authors.forename: Osman
authors.initials: O
authors.lastname: El-Maarri
authors.forename: Beate
authors.initials: B
authors.lastname: Luxembourg
authors.forename: Edelgard
authors.initials: E
authors.lastname: Lindhoff-Last
authors.forename: Lothar
authors.initials: L
authors.lastname: Kochhan
authors.forename: Hans-Dietrich
authors.initials: HD
authors.lastname: Bruhn
authors.forename: Daniel
authors.initials: D
authors.lastname: Delev
authors.forename: Matthias
authors.initials: M
authors.lastname: Watzka
authors.forename: Erhard
authors.initials: E
authors.lastname: Seifried
authors.forename: Johannes
authors.initials: J
authors.lastname: Oldenburg
mesh_terms: D000990:Antithrombin III / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D005091:Exons; D017353:Gene Deletion; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods; D017384:Sequence Deletion
chemical_list: D000990:Antithrombin III