Mutation Analysis of UBE3A in Angelman Syndrome Patients

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Mutation Analysis of UBE3A in Angelman Syndrome Patients Perrine Malzac, Hayley Webber, Anne Moncla, John M. Graham, Mary Kukolich, Charles Williams, Roberta A. Pagon, Linda A. Ramsdell, Tatsuya Kishino, Joseph Wagstaff The American Journal of Human Genetics Volume 62, Issue 6, Pages 1353-1360 (June 1998) DOI: 10.1086/301877 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees of familial AS cases. Genotypes are shown for affected individuals and for unaffected individuals who have been tested. Mutations are denoted by the minus sign (−); the mutation in each family is described in table 1. Mosaicism is indicated by “mos.” The American Journal of Human Genetics 1998 62, 1353-1360DOI: (10.1086/301877) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 2 Linkage and SSCP results in family 5. The pedigree, with three AS brothers and three normal brothers, is shown together with genotypes for loci D15S11, GABRB3, and GABRA5. The maternal haplotype DBB present in two AS brothers and one normal brother is boxed; the third AS brother has a crossover between D15S11 and GABRB3 and has only the centromeric marker D of that haplotype. The lower panel shows a portion of the SSCP gel on the family, created by the use of primers E63-K and E63-L and a gel run at 4°C with no glycerol. The three normal brothers and the father have only the upper (normal) band; the three AS brothers have upper and lower (mutant) bands of equal intensity; and the mother has a lower band of <5% of the intensity of the upper band, demonstrating mosaicism for the UBE3A S349P mutation. The American Journal of Human Genetics 1998 62, 1353-1360DOI: (10.1086/301877) Copyright © 1998 The American Society of Human Genetics Terms and Conditions