1. Mapping of Papillon-Lefèvre Syndrome to the Chromosome 11q14 Region
- Author
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Fischer, J., Blanchet-Bardon, C., Prud'homme, J.-F., Pavek, S., Steijlen, P.M., Dubertret, L., and Weissenbach, J.
- Subjects
Male ,Genotype ,Genetic Linkage ,Chromosomes, Human, Pair 11 ,Chromosome Mapping ,Nucleic Acid Hybridization ,DNA ,Polymerase Chain Reaction ,Pedigree ,Consanguinity ,Papillon-Lefevre Disease ,Gene Frequency ,Haplotypes ,Genetics ,Humans ,Female ,GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries) ,Genetics (clinical) ,Fluorescent Dyes ,Microsatellite Repeats - Abstract
Papillon-Lefevre syndrome (PLS) is an autosomal recessive disease which belongs to the palmo-plantar keratoderma (PPK) group. It is characterized by a premature loss of primary and permanent teeth and early onset periodontitis. High consanguinity has been observed in over one-third of PLS families. No candidate genes or gene localizations have been described to date for this disorder. A primary genome-wide search by homozygosity mapping using samples from a large consanguineous family in which 4 siblings were affected by the disease showed homozygosity and linkage in the region of 11q14. Linkage was confirmed in 4 additional families with diverse ethnic and geographic backgrounds, 2 of which were consanguineous. A maximum two-point lod score of 8.19 was obtained for the marker AFM063yg1 (D11S901= for theta = 0. Analysis of recombination events places the gene within a 7-cM interval between AFM063yg1 and AFM269yg9 (D11S4175). No shared haplotype was found for the 5 families analysed.
- Published
- 1997