Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene
Journal Article
·
· American Journal of Medical Genetics
- Indiana Univ. School of Medicine, Indianapolis, IN (United States); and others
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{r_arrow}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 15. 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. 22 refs., 2 figs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 90826
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 55; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
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Journal Article
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· American Journal of Medical Genetics
·
OSTI ID:90825
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Journal Article
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· Proceedings of the National Academy of Sciences of the United States of America; (USA)
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Journal Article
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Mon Jul 31 00:00:00 EDT 1995
· American Journal of Medical Genetics
·
OSTI ID:441155