Article
Imprinting-mutation mechanisms in Prader-Willi syndrome.
American journal of human genetics - 1 Feb 1999
Ohta T, Gray T A, Rogan P K, Buiting K, Gabriel J M, Saitoh S, Muralidhar B, Bilienska B, Krajewska-Walasek M, Driscoll D J, Horsthemke B, Butler M G, Nicholls R D
Abstract excerpt
Microdeletions of a region termed the "imprinting center" (IC) in chromosome 15q11-q13 have been identified in several families with Prader-Willi syndrome (PWS) or Angelman syndrome who show epigenetic inheritance for this region that is consistent with a mutation in the imprinting process. The I...
Topics
- Adult
- Animals
- Autoantigens
- Base Sequence
- Child
- Child, Preschool
- Chromosomes, Human, Pair 15
- DNA Methylation
- Deoxyribonuclease I
- Evolution, Molecular
- Female
- Gene Expression
- Genetic Markers
- Genomic Imprinting