Summary
A family in which 3 children were affected with Angelman Syndrome (AS) was studied with molecular genetic techniques using 5 different genomic DNA probes each located at 15q11–ql2. Southern hybridization with one probe, pTD3-21 (D15S10), revealed one-copy density of the corresponding DNA in all of these children, their phenotypically normal mother and maternal grandfather, but two copies in the father and the maternal grandmother. The DI5S10 deletions were confirmed by segregation of RFLPs detected by 3 different restriction enzymes. Southern hybridization for other 4 loci (D15S9, D15S11, D15S12, D15S18) showed the presence of two copies of the sequences in all of these family members. These results were consistent with the genomic imprinting hypothesis for the occurrence of AS, in which the lack of a maternally derived D15S10 allele leads to AS. However, they may not support a model that AS is the alternative phenotype of PWS at the identical locus. This finding also suggests that the presumed AS gene is located near D15S10.
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References
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© 1992 Springer-Verlag Berlin Heidelberg
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Niikawa, N., Hamabe, J. (1992). Possible Genomic Imprinting at the Angelman Syndrome Gene Locus. In: Cassidy, S.B. (eds) Prader-Willi Syndrome. NATO ASI Series, vol 61. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-84283-2_5
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DOI: https://doi.org/10.1007/978-3-642-84283-2_5
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