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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
1992-10-28
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pubmed:abstractText |
A family with an apparent history of X-linked Pelizaeus-Merzbacher disease presented for genetic counseling, requesting carrier detection and prenatal diagnosis. RFLP analysis using the proteolipid protein (PLP) gene probe was uninformative in this family. A prenatal diagnosis on a chorionic villus sample (CVS) was carried out using single-strand conformation polymorphism (SSCP) analysis of a variant in exon 4 of the PLP gene. The fetus was predicted to be unaffected. Sequencing of the exon from the CVS, the predicted-carrier mother, and the obligate-carrier grandmother revealed an A-to-C change at nucleotide 541 in the two women but not in the fetus. As this change results in a Thr-to-Pro change at amino acid 181 in a region of the gene predicted to be part of a transmembrane segment, it was concluded that this was the mutation causing the disease in this family. In addition, in a second family, an exon 5 variant band pattern on SSCP analysis was shown by sequencing to be due to a T-to-C change at nucleotide 668. This results in a Leu-to-Pro change in a carrier mother and in her two affected sons. These results provide further examples of mutations in PLP that cause Pelizaeus-Merzbacher disease and illustrate the value of SSCP in genetic analysis.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/1384324-1347148,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1384324-1651174,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1384324-1655284,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1384324-1707231,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1384324-1715570,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1384324-1719490,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1384324-1842918,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1384324-1857497,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1384324-2434933,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1384324-2479017,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1384324-2480601,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1384324-2679088,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1384324-2773936,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1384324-3198119,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1384324-3684611,
http://linkedlifedata.com/resource/pubmed/commentcorrection/1384324-6206491
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0002-9297
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
51
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pubmed:geneSymbol |
PLP
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
871-8
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pubmed:dateRevised |
2010-9-7
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pubmed:meshHeading |
pubmed-meshheading:1384324-Amino Acid Sequence,
pubmed-meshheading:1384324-Base Sequence,
pubmed-meshheading:1384324-Chorionic Villi Sampling,
pubmed-meshheading:1384324-DNA,
pubmed-meshheading:1384324-Diffuse Cerebral Sclerosis of Schilder,
pubmed-meshheading:1384324-Exons,
pubmed-meshheading:1384324-Female,
pubmed-meshheading:1384324-Genetic Counseling,
pubmed-meshheading:1384324-Humans,
pubmed-meshheading:1384324-Infant, Newborn,
pubmed-meshheading:1384324-Leucine,
pubmed-meshheading:1384324-Male,
pubmed-meshheading:1384324-Molecular Sequence Data,
pubmed-meshheading:1384324-Myelin Proteins,
pubmed-meshheading:1384324-Myelin Proteolipid Protein,
pubmed-meshheading:1384324-Oligodeoxyribonucleotides,
pubmed-meshheading:1384324-Polymerase Chain Reaction,
pubmed-meshheading:1384324-Polymorphism, Genetic,
pubmed-meshheading:1384324-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:1384324-Pregnancy,
pubmed-meshheading:1384324-Prenatal Diagnosis,
pubmed-meshheading:1384324-Proline,
pubmed-meshheading:1384324-Restriction Mapping,
pubmed-meshheading:1384324-Threonine,
pubmed-meshheading:1384324-X Chromosome
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pubmed:year |
1992
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pubmed:articleTitle |
Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.
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pubmed:affiliation |
Molecular Genetics Unit, Institute of Child Health, London, England.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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