A C Lossie1, D J Driscoll. 1. Department of Molecular Genetics and Microbiology, and Center for Mammalian Genetics, University of Florida College of Medicine, Gainesville 32610-0296, USA.
Abstract
PURPOSE: To determine: 1) If a 15q11-13 deletion was transmitted from a female with Angelman syndrome to her fetus, and 2) If the UBE3A gene was functionally imprinted in fetal eye. METHODS: Individuals were genotyped by microsatellite analysis. DNA methylation imprints were assessed by Southern blot analysis and methylation-specific PCR. Expression was analyzed by RT-PCR. RESULTS: The mother and fetus inherited large deletions of maternal 15q11-13 and demonstrated paternal-only DNA methylation imprints along 15q11-13. UBE3A was paternally expressed in eye tissue from the fetus with Angelman syndrome. CONCLUSIONS: We show that females with Angelman syndrome are fully capable of reproduction and that UBE3A is not imprinted in fetal eye.
PURPOSE: To determine: 1) If a 15q11-13 deletion was transmitted from a female with Angelman syndrome to her fetus, and 2) If the UBE3A gene was functionally imprinted in fetal eye. METHODS: Individuals were genotyped by microsatellite analysis. DNA methylation imprints were assessed by Southern blot analysis and methylation-specific PCR. Expression was analyzed by RT-PCR. RESULTS: The mother and fetus inherited large deletions of maternal 15q11-13 and demonstrated paternal-only DNA methylation imprints along 15q11-13. UBE3A was paternally expressed in eye tissue from the fetus with Angelman syndrome. CONCLUSIONS: We show that females with Angelman syndrome are fully capable of reproduction and that UBE3A is not imprinted in fetal eye.
Authors: A C Lossie; M M Whitney; D Amidon; H J Dong; P Chen; D Theriaque; A Hutson; R D Nicholls; R T Zori; C A Williams; D J Driscoll Journal: J Med Genet Date: 2001-12 Impact factor: 6.318