title: Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease.
abstract: Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease.PMD is an X-linked recessive disorder due to a proteolipid protein (PLP) deficiency. Duplications of PLP gene were shown to be the principle cause of the disorder, accounting for an estimated 50-70% of cases. To define a simple and reliable method for genetic diagnosis of PMD, a group of 42 patients with clinical manifestation of PMD was analyzed by means of real-time quantitative PCR. Parallel fluorescence in situ hybridization (FISH) analysis was performed on the same group of patients. Real-time PCR found seventeen samples had increased gene dosage, whereas FISH detected sixteen duplicated samples. Both methods identified a sample with PLP gene deletion. Our results indicate that real-time PCR is a sensitive and reliable method for the detection of gene duplications/deletions. We further discussed the advantages and limitations of each method in clinical diagnosis of PMD.
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA. qinggao10@hotmail.com
authors.forename: Q
authors.initials: Q
authors.lastname: Gao
authors.forename: V C
authors.initials: VC
authors.lastname: Thurston
authors.forename: G H
authors.initials: GH
authors.lastname: Vance
authors.forename: S R
authors.initials: SR
authors.lastname: Dlouhy
authors.forename: M E
authors.initials: ME
authors.lastname: Hodes
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods; D017353:Gene Deletion; D018628:Gene Dosage; D020440:Gene Duplication; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D020371:Pelizaeus-Merzbacher Disease / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction