title: Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease.
abstract: Pelizaeus-Merzbacher disease (PMD) is a clinically heterogeneous, slowly progressive leukodystrophy. The recent detection of mutations in the myelin proteolipid protein (PLP) gene in several PMD patients offers the opportunity both to design DNA-based tests that would be useful in diagnosing a proportion of PMD cases and, in particular, to evaluate the diagnostic utility of single-strand conformation polymorphism (SSCP) analysis for this disease. A combination of SSCP analysis and direct sequencing of PCR-amplified DNA was used to screen for PLP mutations in 24 patients affected with leukodystrophies of unknown etiology. Two heretofore undescribed mutations in the PLP gene were identified, Asp202His in exon 4 and Gly73Arg in exon 3. The ease and efficiency of SSCP analysis in detecting new mutations support the utilization of this technique in screening for PLP mutations in patients with unexplained leukodystrophies.
authors.affiliation: Division of Biochemistry and Molecular Biology, Eunice K. Shriver Center for Mental Retardation, Waltham, MA 02254.
authors.forename: R
authors.initials: R
authors.lastname: Doll
authors.forename: M R
authors.initials: MR
authors.lastname: Natowicz
authors.forename: R
authors.initials: R
authors.lastname: Schiffmann
authors.forename: F I
authors.initials: FI
authors.lastname: Smith
mesh_terms: D001483:Base Sequence; D001927:Brain Diseases / Q000235:genetics; D004277:DNA, Single-Stranded; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009185:Myelin Proteins / Q000235:genetics*; D018991:Myelin Proteolipid Protein; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D004277:DNA, Single-Stranded; D009185:Myelin Proteins; D018991:Myelin Proteolipid Protein