Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large finnish kindred

Victoria M. Pratt, James R. Kiefer, Jaana Lähdetie, Johanna Schleutker, M. E. Hodes, Stephen Dlouhy

Research output: Contribution to journalArticle

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Abstract

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 (θ = 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.

Original languageEnglish
Pages (from-to)1053-1056
Number of pages4
JournalAmerican Journal of Human Genetics
Volume52
Issue number6
StatePublished - Jun 1993

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Pelizaeus-Merzbacher Disease
Proteolipids
Mutation
Missense Mutation
Exons
Proteins
Lod Score
X Chromosome
Point Mutation
Nucleotides
Polymerase Chain Reaction
Genes

ASJC Scopus subject areas

  • Genetics

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Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large finnish kindred. / Pratt, Victoria M.; Kiefer, James R.; Lähdetie, Jaana; Schleutker, Johanna; Hodes, M. E.; Dlouhy, Stephen.

In: American Journal of Human Genetics, Vol. 52, No. 6, 06.1993, p. 1053-1056.

Research output: Contribution to journalArticle

Pratt, Victoria M. ; Kiefer, James R. ; Lähdetie, Jaana ; Schleutker, Johanna ; Hodes, M. E. ; Dlouhy, Stephen. / Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large finnish kindred. In: American Journal of Human Genetics. 1993 ; Vol. 52, No. 6. pp. 1053-1056.
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abstract = "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 (θ = 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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