Molecular genetic analysis of a family with a history of Hodgkin's disease and dyschondrosteosis.
dc.contributor.author | Gokhale, D A | |
dc.contributor.author | Evans, D Gareth R | |
dc.contributor.author | Crowther, Derek | |
dc.contributor.author | Woll, Penella J | |
dc.contributor.author | Watson, C J | |
dc.contributor.author | Dearden, S P | |
dc.contributor.author | Fergusson, W D | |
dc.contributor.author | Stevens, R F | |
dc.contributor.author | Taylor, G M | |
dc.date.accessioned | 2010-05-19T11:12:01Z | |
dc.date.available | 2010-05-19T11:12:01Z | |
dc.date.issued | 1995-05 | |
dc.identifier.citation | Molecular genetic analysis of a family with a history of Hodgkin's disease and dyschondrosteosis. 1995, 9 (5):826-33 Leukemia | en |
dc.identifier.issn | 0887-6924 | |
dc.identifier.pmid | 7769845 | |
dc.identifier.uri | http://hdl.handle.net/10541/99250 | |
dc.description.abstract | We 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.iso | en | en |
dc.subject.mesh | Adolescent | |
dc.subject.mesh | Adult | |
dc.subject.mesh | Base Sequence | |
dc.subject.mesh | Chromosomes, Human, Pair 2 | |
dc.subject.mesh | Chromosomes, Human, Pair 8 | |
dc.subject.mesh | Family Health | |
dc.subject.mesh | Female | |
dc.subject.mesh | HLA-DP Antigens | |
dc.subject.mesh | Histocompatibility Antigens Class I | |
dc.subject.mesh | Histocompatibility Antigens Class II | |
dc.subject.mesh | Histocompatibility Testing | |
dc.subject.mesh | Hodgkin Disease | |
dc.subject.mesh | Humans | |
dc.subject.mesh | Linkage (Genetics) | |
dc.subject.mesh | Male | |
dc.subject.mesh | Middle Aged | |
dc.subject.mesh | Molecular Sequence Data | |
dc.subject.mesh | Mutation | |
dc.subject.mesh | Osteochondrodysplasias | |
dc.subject.mesh | Pedigree | |
dc.subject.mesh | Risk Factors | |
dc.title | Molecular genetic analysis of a family with a history of Hodgkin's disease and dyschondrosteosis. | en |
dc.type | Article | en |
dc.contributor.department | Department of Medical Genetics, St Marys Hospital, Manchester, UK. | en |
dc.identifier.journal | Leukemia | en |
html.description.abstract | We 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. |