HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA.

Abstract
We report carrier identification and a prenatal diagnosis using DNA polymorphisms in 2 families with X-linked Pelizaeus-Merzbacher disease (PMD). In both families, the proteolipid protein (PLP) gene in the single affected male could be traced back to his unaffected maternal grandfather. Therefore, each family contains a new mutation. In the case of the prenatal diagnosis, the fetus was shown by cytogenetic analysis to be a female, who we predict will be a noncarrier of PMD based on her genotype with the PLP intragenic polymorphism.
AuthorsP J Bridge, P M MacLeod, D P Lillicrap
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 38 Issue 4 Pg. 616-21 (Mar 15 1991) ISSN: 0148-7299 [Print] United States
PMID1676565 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Proteolipids
  • DNA
Topics
  • DNA (analysis)
  • Diffuse Cerebral Sclerosis of Schilder (diagnosis, genetics)
  • Female
  • Genetic Carrier Screening
  • Genetic Linkage
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Prenatal Diagnosis
  • Proteolipids (genetics)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: