Abstract
Single-strand conformational polymorphism analysis of an affected male with Pelizaeus-Merzbacher disease (PMD) showed a slight change in mobility of amplified exon 5 of the proteolipid protein (PLP) gene. The exon was sequenced and a G→A transition at codon 216 was found. This mutation eliminates a BstNI restriction site and creates a MaeI restriction site. In 1989, Gencic et al. reported a mutation that destroyed the same BstNI site, but resulted in a substitution at codon 215 [Am J Hum Genet 45:435-442]. The mutation we report here is also present in the patient's mother and her male fetus as determined by polymerase chain reaction analysis of amniocytes.
Original language | English (US) |
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Pages (from-to) | 402-404 |
Number of pages | 3 |
Journal | American Journal of Medical Genetics |
Volume | 55 |
Issue number | 4 |
DOIs | |
State | Published - 1995 |
Externally published | Yes |
ASJC Scopus subject areas
- Genetics(clinical)