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Identification, by Homozygosity Mapping, of a Novel Locus for Autosomal Recessive Congenital Ichthyosis on Chromosome 17p, and Evidence for Further Genetic.

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Presentation on theme: "Identification, by Homozygosity Mapping, of a Novel Locus for Autosomal Recessive Congenital Ichthyosis on Chromosome 17p, and Evidence for Further Genetic."— Presentation transcript:

1 Identification, by Homozygosity Mapping, of a Novel Locus for Autosomal Recessive Congenital Ichthyosis on Chromosome 17p, and Evidence for Further Genetic Heterogeneity  Alice Krebsová, Wolfgang Küster, Gilles G. Lestringant, Bernt Schulze, Britta Hinz, Philippe M. Frossard, André Reis, Hans Christian Hennies  The American Journal of Human Genetics  Volume 69, Issue 1, Pages (July 2001) DOI: /321284 Copyright © 2001 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Pedigrees of the German and Turkish families with ARCI, and construction of haplotypes. Affected haplotypes are boxed. A, The Turkish family. Recombination events determining the ARCI interval were identified in individuals III-2 and III-3. B, The German family. Recombination events determining the ARCI interval were identified in individuals XI-2 and XI-4. The loss of homozygosity, marked by arrowheads, at D17S1879 in person XI-4 determines the proximal end of the ARCI interval. The American Journal of Human Genetics  , DOI: ( /321284) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Pedigrees of the two families from the United Arab Emirates, and construction of haplotypes. Left, Family 1. Right, Family 2. The parents of the patients are first cousins in both families. Obligatory recombination events in family 1 and lack of homozygosity by descent clearly exclude linkage to the region of the ARCI gene on chromosome 17p. The American Journal of Human Genetics  , DOI: ( /321284) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

4 Figure 3 The localization of the ARCI gene on chromosome 17p. Distances between markers are given in centimorgans according to Dib et al. (1996). The 8.4-cM interval harboring the gene is determined by the flanking markers at D17S938 and D17S1879. In the German family, the black bar represents the interval defined by recombination events. The gray bar shows the interval obtained by homozygosity mapping. The American Journal of Human Genetics  , DOI: ( /321284) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

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