The gene for juvenile hyaline fibromatosis maps to chromosome 4q21
Makaleler > Tam Makale · 2002
Yazarlar: N RAHMAN, M DUNSTAN, MD TEARE, S HANKS, SJ EDKINS, J HUGHES, GR BIGNELL, G MANCINI, W KLEIJER, M CAMPBELL, Gökhan KESER, C BLACK, N WILLIAMS, L ARBOUR, M WARMAN, A SUPERTI-FURGA, PA FUTREAL, FM POPE
AMERICAN JOURNAL OF HUMAN GENETICS, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2002, cilt 71, ss 975-980
DOI: 10.1086/342776
Özet
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.