Article
Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.
American journal of human genetics - 1 May 1994
Reis A, Dittrich B, Greger V, Buiting K, Lalande M, Gillessen-Kaesbach G, Anvret M, Horsthemke B
Abstract excerpt
The D15S9 and D15S63 loci in the Prader-Willi/Angelman syndrome region on chromosome 15 are subject to parent-of-origin-specific DNA methylation. We have found two Prader-Willi syndrome families in which the patients carry a maternal methylation imprint on the paternal chromosome. In one of these...
Topics
- Angelman Syndrome
- Blotting, Southern
- Chromosome Mapping
- Chromosomes, Human, Pair 15
- DNA
- Female
- Genetic Markers
- Genotype
- Humans
- Male
- Methylation
- Models, Genetic
- Mutation
- Prader-Willi Syndrome
- Restriction Mapping