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Eur J Hum Genet. 1999 Jan;7(1):77-87.

Lamellar ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus.

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  • 1CNRS URA 1922, Généthon, Evry, France.

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.

PMID:
10094194
[PubMed - indexed for MEDLINE]
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