作者
Nazneen Rahman, Melanie Dunstan, M Dawn Teare, Sandra Hanks, Sarah J Edkins, Jaime Hughes, Graham R Bignell, Grazia Mancini, Wim Kleijer, Mary Campbell, Gokhan Keser, Carol Black, Nigel Williams, Laura Arbour, Matthew Warman, Andrea Superti-Furga, P Andrew Futreal, F Michael Pope
发表日期
2002/10/1
期刊
The American Journal of Human Genetics
卷号
71
期号
4
页码范围
975-980
出版商
Elsevier
简介
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.
引用总数
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N Rahman, M Dunstan, MD Teare, S Hanks, SJ Edkins… - The American Journal of Human Genetics, 2002