Common Mutations in Arg304 of the p63 Gene in Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome: Lack of Genotype–Phenotype Correlation and Implications.

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Common Mutations in Arg304 of the p63 Gene in Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome: Lack of Genotype–Phenotype Correlation and Implications for Mutation Detection Strategies Takahiro Hamada, Ien Chan, John A. McGrath Journal of Investigative Dermatology Volume 119, Issue 5, Pages 1202-1203 (November 2002) DOI: 10.1046/j.1523-1747.2002.19526.x Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Restriction endonuclease digestion of PCR products spanning exon 8 of p63 using HpaII shows that the heterozygous presence of the mutations R304Q and R304W results in loss of a solitary HpaII cutsite on one allele. In control DNA (cont), the PCR product is completely digested into fragments 199– and 153– bp in size. By contrast there is an additional undigested band of 352– bp in amplifiled mutant DBA. (MW=0X174 HpaII molecular weight marker). Journal of Investigative Dermatology 2002 119, 1202-1203DOI: (10.1046/j.1523-1747.2002.19526.x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions