title: A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease.
abstract: Pelizaeus Merzbacher Disease (PMD) is an X-linked recessive dysmyelinating disorder of the central nervous system. Most patients have point mutations in exons of the proteolipid protein (PLP1) gene or duplication of a genomic region that includes the PLP1 gene. We identified a common MspI polymorphism in intron 1 of the PLP1 gene and used it to determine carrier status for PLP1 gene duplication in PMD by using a quantitative PCR approach.
authors.affiliation: Department of Research, Alfred I. DuPont Hospital for Children, Wilmington, DE, USA. ghobson@nemours.org
authors.forename: G
authors.initials: G
authors.lastname: Hobson
authors.forename: D
authors.initials: D
authors.lastname: Stabley
authors.forename: V
authors.initials: V
authors.lastname: Funanage
authors.forename: H
authors.initials: H
authors.lastname: Marks
mesh_terms: D004247:DNA / Q000235:genetics / Q000378:metabolism; D019003:Deoxyribonuclease HpaII / Q000378:metabolism; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D006580:Genetic Carrier Screening; D006801:Humans; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D020371:Pelizaeus-Merzbacher Disease / Q000235:genetics* / Q000473:pathology; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D018991:Myelin Proteolipid Protein; D004247:DNA; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific; C052694:GRCGYC-specific type II deoxyribonucleases