Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy. Issue 11 (November 1995)

• Record Type: Journal Article
• Authors: Mansergh, F C; Kenna, P F; Rudolph, G; Meitinger, T; Farrar, G J; Kumar-Singh, R; Scorer, J; Hally, A M; Mynett-Johnson, L; Humphries, M M
• Is Part Of: Journal of medical genetics. Volume 32:Issue 11(1995)
• Page Start: 855
• Page End: 858
• Publication Date: 1995-11
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.32.11.855
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Best's vitelliform macular dystrophy is an early onset, autosomal dominant macular degeneration. Linkage analysis has previously mapped a disease locus in this disorder to the pericentromeric region of chromosome 11. We examined two families, one of German and one of Irish origin, both affected with this disorder. The Irish family (BTMD1) showed strong evidence for linkage to the previously reported locus on chromosome 11. Linkage of the disease locus to the same region of chromosome 11 has been significantly excluded in the German family (Fam E), thereby providing evidence of locus heterogeneity in this clinically unique condition.