title: Molecular study of chromosome 15 in 22 patients with Angelman syndrome.
abstract: DNA studies in 22 families with Angelman syndrome (AS) were performed using the chromosome 15 marker loci D15S9, D15S10, D15S11, D15S12, D15S13, D15S18, D15S24, D15S86, the alpha-actin gene and the GABA beta 3 receptor gene (GABRB3). Uniparental disomy of chromosome 15 was excluded in all patients. Eighteen AS patients (82%) showed a molecular deletion of chromosome 15q11-q13 with one or more of these markers. No duplications of junction fragments, bridging deletions or duplication breakpoints were observed. The GABRB3 gene was deleted in all deletion-positive patients tested. Analysis of maternal DNA indicated that each deletion was a de novo event. All deletions were of maternal origin; this is in agreement with genomic imprinting in AS.
authors.affiliation: Department of Genetics, University of Antwerp, Belgium.
authors.forename: J
authors.initials: J
authors.lastname: Beuten
authors.forename: K
authors.initials: K
authors.lastname: Mangelschots
authors.forename: I
authors.initials: I
authors.lastname: Buntinx
authors.forename: P
authors.initials: P
authors.lastname: Coucke
authors.forename: O F
authors.initials: OF
authors.lastname: Brouwer
authors.forename: R C
authors.initials: RC
authors.lastname: Hennekam
authors.forename: C
authors.initials: C
authors.lastname: Van Broeckhoven
authors.forename: P J
authors.initials: PJ
authors.lastname: Willems
mesh_terms: D000199:Actins / Q000235:genetics; D000293:Adolescent; D000328:Adult; D017204:Angelman Syndrome / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D004252:DNA Mutational Analysis; D003720:Densitometry; D005260:Female; D017353:Gene Deletion; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009035:Mothers; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011963:Receptors, GABA-A / Q000235:genetics; D015183:Restriction Mapping; D017384:Sequence Deletion
chemical_list: D000199:Actins; D005819:Genetic Markers; D011963:Receptors, GABA-A