MvaI polymorphism in the proteolipid protein (PLP) gene

H Osaka; K Inoue; C Kawanishi; Y Yamada; H Onishi; N Sugiyama; K Suzuki; A Nezu; S Kimura; K Kosaka

doi:10.1007/BF00208978

MvaI polymorphism in the proteolipid protein (PLP) gene

Hum Genet. 1995 Apr;95(4):461. doi: 10.1007/BF00208978.

Authors

H Osaka¹, K Inoue, C Kawanishi, Y Yamada, H Onishi, N Sugiyama, K Suzuki, A Nezu, S Kimura, K Kosaka

Affiliation

¹ Department of Pediatrics, School of Medicine, Urafune Hospital of Yokohama City University, Japan.

PMID: 7705847
DOI: 10.1007/BF00208978

Abstract

We report a rare polymorphism in the human proteolipid protein (PLP) gene. A synonymous mutation, 168 A-->G, was detected in exon 2 of the PLP gene. Mutations in this gene have been reported in some cases of Pelizaeus-Merzbacher disease.

MeSH terms

Base Sequence
Chromosome Mapping
DNA Primers / chemistry
DNA-Cytosine Methylases
Exons / genetics
Gene Frequency
Genetic Linkage
Humans
Molecular Sequence Data
Polymerase Chain Reaction
Polymorphism, Genetic*
Proteolipids / genetics*

Substances

DNA Primers
Proteolipids
DNA modification methylase EcoRII
DNA-Cytosine Methylases