Abstract
Pelizaeus Merzbacher Disease (PMD) is an X-linked recessive dysmyelinating disorder of the central nervous system. Most patients have point mutations in exons of the proteolipid protein (PLP1) gene or duplication of a genomic region that includes the PLP1 gene. We identified a common MspI polymorphism in intron 1 of the PLP1 gene and used it to determine carrier status for PLP1 gene duplication in PMD by using a quantitative PCR approach.
Copyright 2001 Wiley-Liss, Inc.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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DNA / genetics
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DNA / metabolism
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Deoxyribonuclease HpaII / metabolism
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Deoxyribonucleases, Type II Site-Specific / metabolism
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Genetic Carrier Screening*
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Humans
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Myelin Proteolipid Protein / genetics*
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Pelizaeus-Merzbacher Disease / genetics*
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Pelizaeus-Merzbacher Disease / pathology
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Polymorphism, Genetic
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Polymorphism, Restriction Fragment Length
Substances
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Myelin Proteolipid Protein
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DNA
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Deoxyribonuclease HpaII
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Deoxyribonucleases, Type II Site-Specific
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GRCGYC-specific type II deoxyribonucleases