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 |
|---|---|
| Pages (from-to) | 402-404 |
| Number of pages | 3 |
| Journal | American Journal of Medical Genetics |
| Volume | 55 |
| Issue number | 4 |
| DOIs | |
| State | Published - 1995 |
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ASJC Scopus subject areas
- Genetics(clinical)
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Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene. / Pratt, V. M.; Boyadjiev, S.; Dlouhy, Stephen; Silver, K.; Der Kaloustian, V. M.; Hodes, M. E.
In: American Journal of Medical Genetics, Vol. 55, No. 4, 1995, p. 402-404.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene
AU - Pratt, V. M.
AU - Boyadjiev, S.
AU - Dlouhy, Stephen
AU - Silver, K.
AU - Der Kaloustian, V. M.
AU - Hodes, M. E.
PY - 1995
Y1 - 1995
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=0028954678&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320550403
DO - 10.1002/ajmg.1320550403
M3 - Article
C2 - 7539212
AN - SCOPUS:0028954678
VL - 55
SP - 402
EP - 404
JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
SN - 1552-4825
IS - 4
ER -