Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy.

摘要: Allele-specific replication differences have been observed in imprinted chromosomal regions. We exploited this characteristic of an region by using FISH at D15S9 and SNRPN (small nuclear ribonucleo protein N) on interphase nuclei to distinguish between Angelman Prader-Willi syndrome patient samples with uniparental disomy chromosome 15q11-q13 (n = 11) from those biparental inheritance 13). The familial recurrence risks are low when the child has de novo may be as high 50% inheritance. frequency cells asynchronous was significantly lower patients than Within sample population inheritance, altered methylation presumably imprinting center mutations could not distinguished no currently detectable mutation. This test is cost effective because it performed same hybridized cytological preparation which a deletion excluded, additional specimens required determine parental origin 15.