Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.
Abnormalities of chromosome region 15q11-13 are associated with Angelman syndrome (AS) and Prader-Willi syndrome (PWS). Differences between the methylation patterns of the region of chromosome 15q11-13 which hybridizes to the highly conserved DNA, DN34, in normal individuals and in patients with AS and PWS have been described. We report on a family in which first cousins are affected by AS and PWS as a result of a familial paracentric inversion of 15q11-q13. The results of the studies on this family demonstrate the differences in the methylation patterns in the 2 conditions and the phenomenon of genomic imprinting, whereby genetic information is expressed differently dependent on the parent of origin.
Clayton-Smith
J
J
Department of Medical Genetics, St. Mary's Hospital, Manchester, United Kingdom.
Driscoll
D J
DJ
Waters
M F
MF
Webb
T
T
Andrews
T
T
Malcolm
S
S
Pembrey
M E
ME
Nicholls
R D
RD
D017204:Angelman Syndrome / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D004247:DNA / Q000737:chemistry* / Q000235:genetics*; D015342:DNA Probes; D006801:Humans; D008297:Male; D008745:Methylation; D010375:Pedigree; D011218:Prader-Willi Syndrome / Q000235:genetics* / Q000378:metabolism
D015342:DNA Probes; D004247:DNA