Dinucleotide repeat polymorphism in the proteolipoprotein (PLP) gene.
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).
Mimault
C
C
INSERM U384, Faculté de Médecine, Clermont-Ferrand, France.
Cailloux
F
F
Giraud
G
G
Dastugue
B
B
Boespflug-Tanguy
O
O
D000483:Alleles; D001483:Base Sequence; D004268:DNA-Binding Proteins / Q000235:genetics*; D003711:Demyelinating Diseases / Q000175:diagnosis*; D005787:Gene Frequency; D005820:Genetic Testing / Q000379:methods*; D015698:Genomic Library; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D014157:Transcription Factors / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*
D004268:DNA-Binding Proteins; C078341:MYT1 protein, human; D009838:Oligodeoxyribonucleotides; D014157:Transcription Factors