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).
References
Boespflug-Tanguy O (1994) Genetic homogeneity of Pelizaeus-Merzbacher Disease: tight linkage to the proteolipoprotein locus in 16 affected families. Am J Hum Genet 55:461–467
Saugier-Weber P (1994) X-linked spastic paraplegia and Peliaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nature Genet 6:257–262
Williamson R (1991) Report of the DNA committee and catalogues of cloned and mapped genes, markers formatted for PCR and DNA polymorphisms. Cytogenet Cell Genet 58:1643
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Mimault, C., Cailloux, F., Giraud, G. et al. Dinucleotide repeat polymorphism in the proteolipoprotein (PLP) gene. Hum Genet 96, 236 (1995). https://doi.org/10.1007/BF00207388
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DOI: https://doi.org/10.1007/BF00207388