Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome.
Eleven patients with Angelman syndrome (AS) and their parents from 5 families have been studied with high resolution chromosome analysis and molecular probes from region 15q11-13 in an attempt to elucidate the mode of inheritance in familial AS. No deletions were detected. All families were informative with a combination of different short arm cytogenetic markers. All sets of sibs inherited the same maternal chromosome 15, but in 3 families sibs inherited different paternal 15s. Analysis of 6 polymorphic DNA markers supported the conclusion that AS sibs inherit the same maternal 15, but often different paternal 15s. These data make autosomal recessive inheritance at a 15q11-13 locus very unlikely and support the hypothesis that familial AS is due to maternal transmission of a mutation within 15q11-13.
Department of Medical Genetics, St. Mary's Hosptial, Manchester, England.
J
J
Clayton-Smith
T
T
Webb
S A
SA
Robb
I
I
Dijkstra
P
P
Willems
S
S
Lam
X J
XJ
Cheng
M E
ME
Pembrey
S
S
Malcolm
D017204:Angelman Syndrome / Q000235:genetics*; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009035:Mothers; D012150:Polymorphism, Restriction Fragment Length
D005819:Genetic Markers