Show simple item record

dc.contributor.authorGokhale, D A
dc.contributor.authorEvans, D Gareth R
dc.contributor.authorCrowther, Derek
dc.contributor.authorWoll, Penella J
dc.contributor.authorWatson, C J
dc.contributor.authorDearden, S P
dc.contributor.authorFergusson, W D
dc.contributor.authorStevens, R F
dc.contributor.authorTaylor, G M
dc.date.accessioned2010-05-19T11:12:01Z
dc.date.available2010-05-19T11:12:01Z
dc.date.issued1995-05
dc.identifier.citationMolecular genetic analysis of a family with a history of Hodgkin's disease and dyschondrosteosis. 1995, 9 (5):826-33 Leukemiaen
dc.identifier.issn0887-6924
dc.identifier.pmid7769845
dc.identifier.urihttp://hdl.handle.net/10541/99250
dc.description.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.
dc.language.isoenen
dc.subject.meshAdolescent
dc.subject.meshAdult
dc.subject.meshBase Sequence
dc.subject.meshChromosomes, Human, Pair 2
dc.subject.meshChromosomes, Human, Pair 8
dc.subject.meshFamily Health
dc.subject.meshFemale
dc.subject.meshHLA-DP Antigens
dc.subject.meshHistocompatibility Antigens Class I
dc.subject.meshHistocompatibility Antigens Class II
dc.subject.meshHistocompatibility Testing
dc.subject.meshHodgkin Disease
dc.subject.meshHumans
dc.subject.meshLinkage (Genetics)
dc.subject.meshMale
dc.subject.meshMiddle Aged
dc.subject.meshMolecular Sequence Data
dc.subject.meshMutation
dc.subject.meshOsteochondrodysplasias
dc.subject.meshPedigree
dc.subject.meshRisk Factors
dc.titleMolecular genetic analysis of a family with a history of Hodgkin's disease and dyschondrosteosis.en
dc.typeArticleen
dc.contributor.departmentDepartment of Medical Genetics, St Marys Hospital, Manchester, UK.en
dc.identifier.journalLeukemiaen
html.description.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.


This item appears in the following Collection(s)

Show simple item record