Article
Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy.
American journal of human genetics - 1 Aug 1996
White L M, Rogan P K, Nicholls R D, Wu B L, Korf B, Knoll J H
Abstract excerpt
Allele-specific replication differences have been observed in imprinted chromosomal regions. We have exploited this characteristic of an imprinted region by using FISH at D15S9 and SNRPN (small nuclear ribonucleo protein N) on interphase nuclei to distinguish between Angelman and Prader-Willi syn...
Topics
- Adult
- Alleles
- Angelman Syndrome
- Autoantigens
- Child
- Chromosomes, Human, Pair 15
- DNA Replication
- Genomic Imprinting
- Humans
- In Situ Hybridization, Fluorescence
- Prader-Willi Syndrome
- Ribonucleoproteins, Small Nuclear
- snRNP Core Proteins