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PMID: 7635479 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Dinucleotide repeat polymorphism in the proteolipoprotein (PLP) gene.

Human genetics ·Vol. 96 ·No. 2 ·1995-08-00 ·Pages 236

Mimault C, Cailloux F, Giraud G, Dastugue B, Boespflug-Tanguy O

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).

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
Chemicals
DNA-Binding Proteins MYT1 protein, human Oligodeoxyribonucleotides Transcription Factors
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Mimault C
INSERM U384, Faculté de Médecine, Clermont-Ferrand, France.
Cailloux F
Giraud G
Dastugue B
Boespflug-Tanguy O
References (3)
3 references, click to expand
  1. Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms.
    Cytogenet Cell Genet. 1990;55(1-4):457-778 PMID: 2073845
  2. Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical Group.
    Am J Hum Genet. 1994 Sep;55(3):461-7 PMID: 7915877
  3. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.
    Nat Genet. 1994 Mar;6(3):257-62 PMID: 8012387
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00207388
Published
1995-08-00
Pages
236
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00207388 View journal details
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