Dinucleotide repeat polymorphism in the proteolipoprotein (PLP) gene

Hum Genet. 1995 Aug;96(2):236. doi: 10.1007/BF00207388.

Abstract

We report a dinucleotide polymorphism in the first intron of the proteolipid protein (PLP) gene with a heterozygosity frequency of 0.69 useful for molecular analysis of families with X-linked neurologic disorders characterized by dysmyelination of the central nervous system, Pelizaeus-Merzbacher Disease (PMD) and X-linked Spastic Paraplegia (SPG2).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Base Sequence
  • DNA-Binding Proteins / genetics*
  • Demyelinating Diseases / diagnosis*
  • Gene Frequency
  • Genetic Testing / methods*
  • Genomic Library
  • Heterozygote
  • Humans
  • Molecular Sequence Data
  • Oligodeoxyribonucleotides
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Repetitive Sequences, Nucleic Acid*
  • Sex Chromosome Aberrations / diagnosis*
  • Transcription Factors / genetics*
  • X Chromosome / genetics*

Substances

  • DNA-Binding Proteins
  • MYT1 protein, human
  • Oligodeoxyribonucleotides
  • Transcription Factors