Recombinations defining centromeric and telomeric borders for the hereditary haemochromatosis locus. Issue 1 (January 1997)

• Record Type: Journal Article
• Authors: Ajioka, R S; Yu, P; Gruen, J R; Edwards, C Q; Griffen, L M; Kushner, J P
• Is Part Of: Journal of medical genetics. Volume 34:Issue 1(1997)
• Page Start: 28
• Page End: 33
• Publication Date: 1997-01
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.34.1.28
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Hereditary haemochromatosis (HFE) is a common inherited disorder, affecting approximately five per thousand white people of northern European descent. Genetic linkage and linkage disequilibrium studies indicate that the disease locus is tightly linked to HLA-A and D6S105. Recombination between HFE and HLA class I loci is known to be rare. We report here two pedigrees in which recombinations telomeric of HLA-A occurred. These recombinant events define new centromeric and telomeric borders for the HFE locus.