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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
1993-7-1
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pubmed:abstractText |
The purpose of this study was to confirm linkage of the proteolipid protein gene (PLP) and Pelizaeus-Merzbacher disease (PMD). A T-->A transversion in nucleotide pair 35 of exon 4 of PLP was found in a large Finnish kindred with PMD. This mutation results in the substitution Val165-->Glu165. We used a combination of single-strand conformational polymorphism and PCR primer extension to determine the presence or absence of the point mutation in family members. A lod score of 2.6 (theta = 0) was found for linkage of the gene and the disease. We examined 101 unrelated X chromosomes and found none with the transversion. This is the second report of linkage of PMD to a missense mutation in PLP. These findings support the hypothesis that PMD in this family is a result of the missense mutation present in exon 4 of PLP.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684886-1376553,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684886-1376966,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684886-1384324,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684886-1707231,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684886-1711121,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684886-1715570,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684886-1720927,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684886-2194170,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684886-2474554,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684886-2479017,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684886-2480601,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684886-2687159,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684886-2773936,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684886-3061869,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684886-6201866,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7684886-6206491
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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 |
Jun
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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 |
52
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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 |
1053-6
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:7684886-Base Sequence,
pubmed-meshheading:7684886-DNA, Single-Stranded,
pubmed-meshheading:7684886-DNA Mutational Analysis,
pubmed-meshheading:7684886-Diffuse Cerebral Sclerosis of Schilder,
pubmed-meshheading:7684886-Female,
pubmed-meshheading:7684886-Finland,
pubmed-meshheading:7684886-Genetic Linkage,
pubmed-meshheading:7684886-Humans,
pubmed-meshheading:7684886-Male,
pubmed-meshheading:7684886-Molecular Sequence Data,
pubmed-meshheading:7684886-Myelin Proteins,
pubmed-meshheading:7684886-Myelin Proteolipid Protein,
pubmed-meshheading:7684886-Pedigree,
pubmed-meshheading:7684886-Point Mutation,
pubmed-meshheading:7684886-Polymorphism, Genetic,
pubmed-meshheading:7684886-X Chromosome
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pubmed:year |
1993
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pubmed:articleTitle |
Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred.
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pubmed:affiliation |
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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