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

Details

Serval ID
serval:BIB_D0DEEEC4BC16
Type
Article: article from journal or magazin.
Collection
Publications
Title
The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.
Journal
American Journal of Human Genetics
Author(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
Publication state
Published
Issued date
2002
Volume
71
Number
4
Pages
975-980
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Abstract
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.
Keywords
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
Yes
Create date
14/03/2011 16:09
Last modification date
20/08/2019 15:51
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