Article
Molecular diagnosis of Prader-Willi syndrome: parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms.
American journal of medical genetics - 1 Aug 1994
Lerer I, Meiner V, Pashut-Lavon I, Abeliovich D
Abstract excerpt
We describe our experience in the molecular diagnosis of 22 patients suspected of Prader-Willi syndrome (PWS) using a DNA probe PW71 (D15S63) which detects a parent-of-origin specific methylated site in the PWS critical region. The cause of the syndrome was determined as deletion or uniparental d...
Topics
- Adolescent
- Alleles
- Base Sequence
- Child
- Chromosome Mapping
- DNA Primers
- Female
- Humans
- Infant
- Infant, Newborn
- Male
- Methylation
- Molecular Sequence Data
- Polymorphism, Genetic
- Prader-Willi Syndrome
- Repetitive Sequences, Nucleic Acid