The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.

Détails

ID Serval
serval:BIB_D0DEEEC4BC16
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.
Périodique
American Journal of Human Genetics
Auteur⸱e⸱s
Rahman N., Dunstan M., Teare M.D., Hanks S., Edkins S.J., Hughes J., Bignell G.R., Mancini G., Kleijer W., Campbell M., Keser G., Black C., Williams N., Arbour L., Warman M., Superti-Furga A., Futreal P.A., Pope F.M.
ISSN
0002-9297 (Print)
ISSN-L
0002-9297
Statut éditorial
Publié
Date de publication
2002
Volume
71
Numéro
4
Pages
975-980
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Résumé
Juvenile hyaline fibromatosis (JHF) is an autosomal recessive condition characterized by multiple subcutaneous nodular tumors, gingival fibromatosis, flexion contractures of the joints, and an accumulation of hyaline in the dermis. We performed a genomewide linkage search in two families with JHF from the same region of the Indian state of Gujarat and identified a region of homozygosity on chromosome 4q21. Dense microsatellite analyses within this interval in five families with JHF who were from diverse origins demonstrate that all are compatible with linkage to chromosome 4q21 (multipoint LOD score 5.5). Meiotic recombinants place the gene for JHF within a 7-cM interval bounded by D4S2393 and D4S395.
Mots-clé
Child, Child, Preschool, Chromosome Mapping, Chromosomes, Human, Pair 4, Female, Fibroma/genetics, Fibroma/metabolism, Humans, Hyalin/metabolism, Male, Pedigree
Pubmed
Web of science
Open Access
Oui
Création de la notice
14/03/2011 17:09
Dernière modification de la notice
20/08/2019 16:51
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