A Recurrent Mutation in the ARS (Component B) Gene Encoding SLURP-1 in Turkish Families with Mal de Meleda: Evidence of a Founder Effect Guofang Hu,

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A Recurrent Mutation in the ARS (Component B) Gene Encoding SLURP-1 in Turkish Families with Mal de Meleda: Evidence of a Founder Effect Guofang Hu, Mehmet Yildirim, Vahide Baysal, Ozlem Yerebakan, Ertan Yilmaz, H. Serhat Inaloz, Amalia Martinez-Mir, Angela M. Christiano, Julide Tok Çelebi Journal of Investigative Dermatology Volume 120, Issue 6, Pages 967-969 (June 2003) DOI: 10.1046/j.1523-1747.2003.12248.x Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Pedigrees with MdM, showing haplotypes for markers at 8qter. The order of the markers is indicated in the upper right corner. The disease-associated haplotype is highlighted. Journal of Investigative Dermatology 2003 120, 967-969DOI: (10.1046/j.1523-1747.2003.12248.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Clinical data and genetic analysis of families 1, 3, and 4 with MdM. (a) Keratoderma with transgrediens. (b) DNA sequence of exon 3 from controls, heterozygous carriers, and homozygous affected individuals. Encoding amino acid sequence is indicated on the wild-type sequence. (c) 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 R96X 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, 967-969DOI: (10.1046/j.1523-1747.2003.12248.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions