Identification of Recurrent Mutations in the ARS (Component B) Gene Encoding SLURP-1 in Two Families with Mal de Meleda Kimberley Morine Ward, Jülide.

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Identification of Recurrent Mutations in the ARS (Component B) Gene Encoding SLURP-1 in Two Families with Mal de Meleda Kimberley Morine Ward, Jülide Tok Çelebi Journal of Investigative Dermatology Volume 120, Issue 1, Pages 96-98 (January 2003) DOI: 10.1046/j.1523-1747.2003.12020.x Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Clinical data and genetic analysis of family 1 with MdM. (a) Pedigree of the family. Gray symbols indicate family members that are predicted to be carriers, whose DNA have not been analyzed. (b) Palmoplantar erythema and keratoderma with transgrediens. (c) DNA sequence of exon 2 from control, heterozygous carrier, and homozygous affected individuals. (d) The top figure shows the 403 bp PCR amplification of exon 2 of the ARS gene, in II-2, II-3, II-4, II-7, III-1, and two control samples. The bottom figure shows BspMI digestion of the PCR samples, which cuts the wild-type allele in 120, 105, 90, and 88 bp fragments. The 82delT mutation abolishes the BspMI site at nucleotide 120 of the PCR product, and therefore digestion of the mutant allele results in three fragments: 209, 105, and 88 bp. Journal of Investigative Dermatology 2003 120, 96-98DOI: (10.1046/j.1523-1747.2003.12020.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Clinical data and genetic analysis of family 2 with MdM. (a) Pedigree of the family. (b) Clinical data. (c) DNA sequence of exon 3 from control, heterozygous carrier, and homozygous affected individuals. (d) Restriction endonuclease analysis with the enzyme DdeI. DdeI digestion cuts the 448 bp PCR product into 272, 90, 65, and 21 bp fragments on the wild-type allele. The C286T mutation creates a new DdeI site at nucleotide 216 of the PCR product, and therefore digestion of the mutant allele results in fragments of 216, 90, 65, 56, and 21 bp. Journal of Investigative Dermatology 2003 120, 96-98DOI: (10.1046/j.1523-1747.2003.12020.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions