Article
Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification.
Clinical chemistry - 1 Jul 2006
Procter Melinda, Chou Lan-Szu, Tang Wei, Jama Mohamed, Mao Rong
Abstract excerpt
BACKGROUND: Approximately 99% of Prader-Willi syndrome (PWS) and 80% of Angelman syndrome (AS) cases have deletions at a common region in chromosome 15q11.2-q13, uniparental disomy for chromosome 15 (UPD15), or imprinting center defects affecting gene expression in this region. The resulting clinical phenotype (PWS or AS) in each class of genomic abnormalities depends on the parent of origin. Both disorders are...
Topics
- Angelman Syndrome
- Chromosomes, Human, Pair 15
- DNA Methylation
- DNA Primers
- Dinucleoside Phosphates
- Gene Dosage
- Gene Duplication
- Genomic Imprinting
- Genotype
- Humans