Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14–q21 by homozygosity mapping |
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Authors: | Martin Walter Laass Hans Christian Hennies Sabine Preis Howard P Stevens Martin Jung Irene M Leigh Thomas F Wienker André Reis |
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Institution: | (1) Institute of Human Genetics, Charité, Humboldt-University, Augustenburger Platz 1, D-13353 Berlin, Germany Tel.: +49-30-45066113; Fax: +49-30-45066904; e-mail: reis@ukrv.de, DE;(2) Mikrosatellitenzentrum, Max-Delbrück Centrum, Heubnerweg 6, D-14059 Berlin, Germany, DE;(3) Department of Pediatrics, University of Düsseldorf, Moorenstr. 5, D-40225 Düsseldorf, Germany, DE;(4) Academic Department of Dermatology, St Bartholomew’s and Royal London School of Medicine and Dentistry, 2 Newark Street, London E1 2AT, UK, GB |
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Abstract: | Papillon-Lefèvre syndrome is an autosomal recessively inherited palmoplantar keratoderma of unknown aetiology associated
with severe periodontitis leading to premature loss of dentition. Three consanguineous families, two of Turkish and one of
German origin, and three multiplex families, one of Ethiopian and two of German origin, with 11 affected and 6 unaffected
siblings in all were studied. A targeted genome search was initially attempted to several candidate gene regions but failed
to demonstrate linkage. Therefore a genome-wide linkage scan using a combination of homozygosity mapping and traditional linkage
analysis was undertaken. Linkage was obtained with marker D11S937 with a maximum two-point lod score of Z
max = 6.1 at recombination fraction θ = 0.00 on chromosome 11q14–q21 near the metalloproteinase gene cluster. Multipoint likelihood calculations gave a maximum
lod score of 7.35 between D11S901 and D11S1358. A 9.2-cM region homozygous by descent in the affected members of the three
consanguineous families lies between markers D11S1989 and D11S4176 harbouring the as yet unknown Papillon-Lefèvre syndrome
gene. Haplotype analyses in all the families studied support this localisation. This study has identified a further locus
harbouring a gene for palmoplantar keratoderma and one possibly involved in periodontitis.
Received: 19 July 1997 / Accepted: 22 August 1997 |
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