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
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Research Support, Non-U.S. Gov't
MeSH terms
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Alleles
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Base Sequence
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DNA-Binding Proteins / genetics*
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Demyelinating Diseases / diagnosis*
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Gene Frequency
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Genetic Testing / methods*
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Genomic Library
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Heterozygote
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Humans
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Molecular Sequence Data
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Oligodeoxyribonucleotides
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Polymerase Chain Reaction
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Polymorphism, Genetic*
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Repetitive Sequences, Nucleic Acid*
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Sex Chromosome Aberrations / diagnosis*
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Transcription Factors / genetics*
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X Chromosome / genetics*
Substances
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DNA-Binding Proteins
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MYT1 protein, human
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Oligodeoxyribonucleotides
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Transcription Factors