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.
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Authors | P J Bridge, P M MacLeod, D P Lillicrap |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 38
Issue 4
Pg. 616-21
(Mar 15 1991)
ISSN: 0148-7299 [Print] United States |
PMID | 1676565
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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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)
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