Molecular genetic analysis of a family with a history of Hodgkin's disease and dyschondrosteosis.
AuthorsGokhale, D A
Evans, D Gareth R
Woll, Penella J
Watson, C J
Dearden, S P
Fergusson, W D
Stevens, R F
Taylor, G M
AffiliationDepartment of Medical Genetics, St Marys Hospital, Manchester, UK.
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AbstractWe describe a family in which two sisters with the autosomal dominant skeletal dysplasia, Leri-Weill dyschondrosteosis (LWD), developed Hodgkin's disease (HD) in late adolescence. In a preliminary attempt to identify HD susceptibility gene(s), HLA-typing and linkage analysis were carried out in the family. Using HLA molecular typing, both sisters were found to have inherited a variant of the HD-susceptibility allele, DPB1*0301, known as DPB1*2001. Following a previous report of a constitutional chromosome translocation (t(2q;8p)) in a family with LWD, preliminary linkage studies were carried out using chromosome 2q and 8p molecular markers. Regions covered by 7/10 chromosome 2 markers and 4/8 chromosome 8 markers were excluded as the location of a candidate LWD gene. Given the rarity of LWD and HD, their simultaneous occurrence is unlikely to have been due to chance. We suggest that a mutation in the LWD gene itself, or a gene closely linked to it, perhaps acting with increased susceptibility to infection conferred by DPB1*2001, resulted in HD in the two sisters.
CitationMolecular genetic analysis of a family with a history of Hodgkin's disease and dyschondrosteosis. 1995, 9 (5):826-33 Leukemia
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