Work

A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection ofPLP1 gene duplication in Pelizaeus-Merzbacher disease

Year: 2001

Type: article

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.

Source: Human Mutation

DOI: 10.1002/1098-1004(200102)17:2<152::aid-humu9>3.0.co;2-p

Authors: Grace M. Hobson, Deborah L. Stabley, Vicky L. Funanage, Harold G. Marks

Institutions: Alfred I. duPont Hospital for Children, Thomas Jefferson University, Nemours Children's Clinic

Language: English

Topic: Hereditary Neurological Disorders

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: Nemours Foundation