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- Title
Lamellar ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus.
- Authors
Parmentier, L; Clepet, C; Boughdene-Stambouli, O; Lakhdar, H; Blanchet-Bardon, C; Dubertret, L; Wunderle, E; Pulcini, F; Fizames, C; Weissenbach, J
- Abstract
Lamellar ichthyosis (LI) is an autosomal recessive genodermatosis which has been shown to be both clinically and genetically heterogeneous. Keratinocyte transglutaminase (or transglutaminase 1: TGM1) has been demonstrated to be the disease-causing gene in some families, whilst in others, a second unidentified LI gene was mapped to chromosome 2q33-35 (ICR2B locus). In this study, we present a physical map that encompasses the ICR2B locus, including the mapping of new microsatellite markers. Based on this new map, genotyping additional families highly suggests a reduction in size of the candidate interval. The final interval is covered by a single yeast artificial chromosome (937-H-3) which is 2.2Mb in length. Fine mapping of potential candidate transcripts was also focused on this region.
- Publication
European journal of human genetics : EJHG, 1999, Vol 7, Issue 1, p77
- ISSN
1018-4813
- Publication type
Journal Article
- DOI
10.1038/sj.ejhg.5200271