Mapping of Papillon-Lefevre syndrome to the chromosome 11q14 region.
Eur J Hum Genet
; 5(3): 156-60, 1997.
Article
em En
| MEDLINE
| ID: mdl-9272739
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.
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Base de dados:
MEDLINE
Assunto principal:
Doença de Papillon-Lefevre
/
Cromossomos Humanos Par 11
/
Mapeamento Cromossômico
Limite:
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
1997
Tipo de documento:
Article