fr
Article scientifique
Anglais

Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4

Publié dansAmerican journal of human genetics, vol. 61, no. 6, p. 1327-1334
Date de publication1997
Résumé

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disease with variable expression and incomplete penetrance, characterized by mucocutaneous pigmentation and hamartomatous polyposis. Patients with PJS have increased frequency of gastrointestinal and extraintestinal malignancies (ovaries, testes, and breast). In order to map the locus (or loci) associated with PJS, we performed a genomewide linkage analysis, using DNA polymorphisms in six families (two from Spain, two from India, one from the United States, and one from Portugal) comprising a total of 93 individuals, including 39 affected and 48 unaffected individuals and 6 individuals with unknown status. During this study, localization of a PJS gene to 19p13.3 (around marker D19S886) had been reported elsewhere. For our families, marker D19S886 yielded a maximum LOD score of 4.74 at a recombination fraction (theta) of.045; multipoint linkage analysis resulted in a LOD score of 7.51 for the interval between D19S886 and 19 pter. However, markers on 19q13.4 also showed significant evidence for linkage. For example, D19S880 resulted in a maximum LOD score of 3.8 at theta =.13. Most of this positive linkage was contributed by a single family, PJS07. These results confirm the mapping of a common PJS locus on 19p13.3 but also suggest the existence, in a minority of families, of a potential second PJS locus, on 19q13.4. Positional cloning and characterization of the PJS mutations will clarify the genetics of the syndrome and the implication of the gene(s) in the predisposition to neoplasias.

Mots-clés
  • Alleles
  • Chromosome Mapping
  • Chromosomes, Human, Pair 19/ genetics
  • Cloning, Molecular
  • DNA/genetics
  • Female
  • Genes, Dominant
  • Genetic Markers
  • Humans
  • Lod Score
  • Male
  • Pedigree
  • Peutz-Jeghers Syndrome/ genetics
  • Polymorphism, Genetic
Citation (format ISO)
MEHENNI, H. et al. Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4. In: American journal of human genetics, 1997, vol. 61, n° 6, p. 1327–1334.
Fichiers principaux (1)
Article
accessLevelRestricted
Identifiants
ISSN du journal0002-9297
430vues
0téléchargements

Informations techniques

Création12/07/2010 11:58:56
Première validation12/07/2010 11:58:56
Heure de mise à jour14/03/2023 15:51:57
Changement de statut14/03/2023 15:51:57
Dernière indexation12/02/2024 18:54:12
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack