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

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 (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.

• Authors: V M Pratt, J R Kiefer, J Lähdetie, J Schleutker, M E Hodes, S R Dlouhy
• Journal: American journal of human genetics (Am J Hum Genet) Vol. 52 Issue 6 Pg. 1053-6 (Jun 1993) ISSN: 0002-9297 [Print] United States
• PMID: 7684886 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA, Single-Stranded
• Myelin Proteins
• Myelin Proteolipid Protein

Topics

• Base Sequence
• DNA Mutational Analysis
• DNA, Single-Stranded
• Diffuse Cerebral Sclerosis of Schilder (genetics)
• Female
• Finland
• Genetic Linkage
• Humans
• Male
• Molecular Sequence Data
• Myelin Proteins (genetics)
• Myelin Proteolipid Protein
• Pedigree
• Point Mutation
• Polymorphism, Genetic
• X Chromosome