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Titolo:
GENETIC-STUDIES OF SYNDROMES WITH SEVERE PERIODONTITIS AND PALMOPLANTAR HYPERKERATOSIS
Autore:
HART TC; STABHOLZ A; MEYLE J; SHAPIRA L; VANDYKE TE; CUTLER CW; SOSKOLNE WA;
Indirizzi:
WAKE FOREST UNIV,BOWMAN GRAY SCH MED,DEPT DENT,MED CTR BLVD WINSTON SALEM NC 27157 HEBREW UNIV JERUSALEM,HADASSAH SCH DENT MED IL-91010 JERUSALEM ISRAEL UNIV GIESSEN,DEPT PERIODONT D-35392 GIESSEN GERMANY BAYLOR COLL DENT DALLAS TX 75246 BOSTON UNIV,CTR ADV BIOMED RES BOSTON MA 02215
Titolo Testata:
Journal of Periodontal Research
fascicolo: 1, volume: 32, anno: 1997,
parte:, 2
pagine: 81 - 89
SICI:
0022-3484(1997)32:1<81:GOSWSP>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
PAPILLON-LEFEVRE SYNDROME; KERATIN INTERMEDIATE FILAMENTS; EARLY-ONSET PERIODONTITIS; HIGH-RISK GROUPS; 2 SIBLINGS; KERATODERMA; DISEASES; EXPRESSION; SKIN; DIFFERENTIATION;
Keywords:
PAPILLON-LEFEVRE SYNDROME; HAIM MUNK SYNDROME; PALMOPLANTAR KERATOSIS; EARLY ONSET PERIODONTITIS; KERATIN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
62
Recensione:
Indirizzi per estratti:
Citazione:
T.C. Hart et al., "GENETIC-STUDIES OF SYNDROMES WITH SEVERE PERIODONTITIS AND PALMOPLANTAR HYPERKERATOSIS", Journal of Periodontal Research, 32(1), 1997, pp. 81-89

Abstract

The Papillon-Lefevre and Haim Munk syndromes are characterized by thepresence of both palmoplantar hyperkeratosis (PPK) and severe early onset periodontitis. It is the early onset periodontal disease component that distinguishes these from other more common forms of PPK. It hasbeen proposed that the periodontal disease component may be a casual association in individuals with PPK. Genetic syndromes with palmoplantar keratosis and severe early onset periodontitis may be due to specific bacterial infections in individuals with PPK. Recently, keratin gene mutations have been identified in several conditions typified by palmoplantar keratosis. The present study sought to test the hypothesis that a keratin gene defect similar to those previously identified in other PPK conditions is responsible for the Haim Munk and the Papillon-Lefevre syndromes. We have performed genetic linkage studies to test for linkage between polymorphic DNA loci within 2 cytokeratin gene families and the disease phenotype in Haim Munk syndrome and Papillon-Lefevre syndrome. Families with individuals segregating for the Haim Munk syndrome and the Papillon-Lefevre syndrome were examined to determine disease status, and genotyped for microsatellite DNA markers closely linked to the acidic (type I) and the basic (type II) cytokeratin genes on chromosomes 12 and 17. Genotype data were evaluated for microsatellite allele homozygosity in affected individuals. Results of these preliminary genetic studies suggest that the gene defect in Haim Munk syndrome is not due to a gene defect in either the type I or the type II keratin gene clusters. These findings suggest that Haim Munk syndrome may be genetically distinct from other more common forms of PPK that have been linked to the cytokeratin gene families, and suggest that mutations in genes other than keratin genes are responsible. Additional family studies are needed to confirm these preliminary findings.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/09/20 alle ore 00:22:28