title: Prenatal diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR.
abstract: A prenatal diagnosis of Pelizaeus-Merzbacher disease (PMD) resulting from proteolipid protein gene (PLP) duplication was performed by a quantitative fluorescent multiplex PCR method. PLP gene copy number was determined in the proband, the pregnant mother, the male fetus and two aunts. Small amounts of genomic DNA extracted from peripheral blood and from chorionic villi were used. The fetus, in common with the proband, was identified as PMD-affected being a carrier of the PLP gene duplication, inherited from the mother, while the two aunts were non-carriers. The data obtained were confirmed by segregation analysis of a PLP-associated dinucleotide-repeat polymorphism amplified by the same multiplex PCR.
authors.affiliation: Laboratorio di Diagnosi Pre e Postnatale di Malattie Metaboliche, Istituto G. Gaslini, Largo G. Gaslini 5, 16147 Genoa, Italy. dppm@ospedale-gaslini.ge.it
authors.forename: S
authors.initials: S
authors.lastname: Regis
authors.forename: M
authors.initials: M
authors.lastname: Filocamo
authors.forename: R
authors.initials: R
authors.lastname: Mazzotti
authors.forename: R
authors.initials: R
authors.lastname: Cusano
authors.forename: F
authors.initials: F
authors.lastname: Corsolini
authors.forename: G
authors.initials: G
authors.lastname: Bonuccelli
authors.forename: M
authors.initials: M
authors.lastname: Stroppiano
authors.forename: R
authors.initials: R
authors.lastname: Gatti
mesh_terms: D016022:Case-Control Studies; D003937:Diagnosis, Differential; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008297:Male; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D010375:Pedigree; D020371:Pelizaeus-Merzbacher Disease / Q000175:diagnosis* / Q000235:genetics; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis
chemical_list: D018991:Myelin Proteolipid Protein