title: Preimplantation diagnosis of autosomal dominant retinitis pigmentosum using two simultaneous single cell assays for a point mutation in the rhodopsin gene.
abstract: A couple requested preimplantation genetic analysis for a dominant form of retinitis pigmentosum caused by a C-->A transversion in the rhodopsin gene. Since this point mutation does not alter a restriction endonuclease site we designed two separate analytical systems, one involving site-specific mutagenesis and the other involving allele-dependent length polymorphism. After establishing the accuracy and robustness of these assay systems we utilized both systems simultaneously in a heminested polymerase chain reaction (PCR) system. This allowed accurate preimplantation diagnosis to be performed. One embryo was transferred but a pregnancy did not occur.
authors.affiliation: Reproductive Genetics Institute, Department of Obstetrics and Gynecology, Illinois Masonic Medical Center, Chicago 60657, USA.
authors.forename: C M
authors.initials: CM
authors.lastname: Strom
authors.forename: S
authors.initials: S
authors.lastname: Rechitsky
authors.forename: G
authors.initials: G
authors.lastname: Wolf
authors.forename: J
authors.initials: J
authors.lastname: Cieslak
authors.forename: A
authors.initials: A
authors.lastname: Kuliev
authors.forename: Y
authors.initials: Y
authors.lastname: Verlinsky
mesh_terms: D002478:Cells, Cultured; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D019836:Preimplantation Diagnosis / Q000379:methods*; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*
chemical_list: D012243:Rhodopsin