Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred.
- 1 June 1993
- journal article
- Vol. 52 (6) , 1053-6
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.This publication has 16 references indexed in Scilit:
- Major myelin proteolipid: The 4-α-helix topologyThe Journal of Membrane Biology, 1991
- A new mutation in the proteolipid protein (PLP) gene in a German family with pelizaeus‐merzbacher diseaseAmerican Journal of Medical Genetics, 1991
- Primer extension technique for the detection of single nucleotide in genomic DNANucleic Acids Research, 1990
- Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant.Proceedings of the National Academy of Sciences, 1989
- Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reactionGenomics, 1989
- Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.Proceedings of the National Academy of Sciences, 1989
- PELIZAEUS-MERZBACHER DISEASE - AN X-LINKED NEUROLOGIC DISORDER OF MYELIN METABOLISM WITH A NOVEL MUTATION IN THE GENE ENCODING PROTEOLIPID PROTEIN1989
- Programs for pedigree analysis: Mendel, Fisher, and dGeneGenetic Epidemiology, 1988
- Structure and molecular arrangement of proteolipid protein of central nervous system myelin.Proceedings of the National Academy of Sciences, 1984
- The structure of bovine brain myelin proteolipid and its organization in myelin.Proceedings of the National Academy of Sciences, 1984