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

Journal Article · Tue Jun 01 00:00:00 EDT 1993 · American Journal of Human Genetics; (United States)

OSTI ID:6182743

Pratt, V M; Kiefer, J R; Hodes, M E; Dlouhy, S R ^[1]; Laehdetie, J; Schleutker, J ^[2]

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1. Indiana Univ., Indianapolis (United States)
2. Univ. of Turku (Finland)

The purpose of this study was to confirm linkage of the proteolipid protein gene (PLP) and Pelizaeus-Merzbacher disease (PMD). A T[r arrow]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 Val[sup 165][r arrow]Glu[sup 165]. The authors used a combination of single-strand conformation 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. They 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. 18 refs., 4 figs.

• OSTI ID: 6182743
• Journal Information: American Journal of Human Genetics; (United States), Vol. 52:6; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
CENTRAL NERVOUS SYSTEM
NERVOUS SYSTEM DISEASES
LIPOPROTEINS
GENE MUTATIONS
GENES
HUMAN X CHROMOSOME
MYELIN
CELL CONSTITUENTS
CELL MEMBRANES
CHROMOSOMES
DISEASES
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
LIPIDS
MEMBRANES
MUTATIONS
NERVOUS SYSTEM
ORGANIC COMPOUNDS
PROTEINS
X CHROMOSOME
550400* - Genetics