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

Hum Mutat. 2001 Feb;17(2):152. doi: 10.1002/1098-1004(200102)17:2<152::AID-HUMU9>3.0.CO;2-P.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA / genetics
  • DNA / metabolism
  • Deoxyribonuclease HpaII / metabolism
  • Deoxyribonucleases, Type II Site-Specific / metabolism
  • Genetic Carrier Screening*
  • Humans
  • Myelin Proteolipid Protein / genetics*
  • Pelizaeus-Merzbacher Disease / genetics*
  • Pelizaeus-Merzbacher Disease / pathology
  • Polymorphism, Genetic
  • Polymorphism, Restriction Fragment Length

Substances

  • Myelin Proteolipid Protein
  • DNA
  • Deoxyribonuclease HpaII
  • Deoxyribonucleases, Type II Site-Specific
  • GRCGYC-specific type II deoxyribonucleases