title: Polar body diagnosis for hemophilia a using multiplex PCR for linked polymorphic markers.
abstract: Preimplantation genetic diagnosis (PGD) is usually performed on blastomeres. In Germany, the only possibility to perform PGD is by analysis of polar bodies. We performed PGD using polar bodies in a woman who is a carrier of hemophilia A. Multiplex PCR followed by nested fluorescent PCR for five linked polymorphic markers was established. From 11 analyzed polar bodies, only 1 showed alleles linked to the mutation. The corresponding oocyte was transferred and no pregnancy was established. As seen in other investigations, the rate of heterozygous first polar bodies is surprisingly high.
authors.affiliation: Institute of Human Genetics, Medical University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany. dianatomi@hotmail.com
authors.forename: Diana
authors.initials: D
authors.lastname: Tomi
authors.forename: Georg
authors.initials: G
authors.lastname: Griesinger
authors.forename: Askan
authors.initials: A
authors.lastname: Schultze-Mosgau
authors.forename: Juliane
authors.initials: J
authors.lastname: Eckhold
authors.forename: Beate
authors.initials: B
authors.lastname: Schöpper
authors.forename: Safaa
authors.initials: S
authors.lastname: Al-Hasani
authors.forename: Klaus
authors.initials: K
authors.lastname: Diedrich
authors.forename: Eberhard
authors.initials: E
authors.lastname: Schwinger
mesh_terms: D000328:Adult; D005260:Female; D006580:Genetic Carrier Screening; D005819:Genetic Markers; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D009865:Oocytes / Q000648:ultrastructure; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D019836:Preimplantation Diagnosis
chemical_list: D005819:Genetic Markers