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

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. Hum Mutat 17:152, 2001. © 2001 Wiley‐Liss, Inc.