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© 1992 Oxford University Press

RESEARCH-ARTICLE

Autosomal dominant branchio-oto-renal syndrome—localization of a disease gene to chromosome 8q by linkage in a Dutch family

Shrawan Kumar*, William J. Kimberling*, Judy B. Kenyon, Richard J. H. Smith1, Henri A. M. Marres2 and Cor W. R. J. Cremers2

Department of Genetics, Center for Hereditary and Communication Disorders, Boys Town National Research Hospital Omaha, NE 68131 1Molecular Otolaryngology Research Laboratories, The University of Iowa IA, USA 2Department of Otorhinolaryngology, University Hospital Nijmegen Nijmegen, The Netherlands

*To whom correspondence should be addressed

Received July 13, 1992; Revised August 27, 1992; Accepted August 27, 1992

Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder with variable clinical manifestations affecting branchial, renal and auditory development. Varying clinical expression of the disease between different families suggests that multiple loci may be involved. However, the possibility of genetic heterogeneity as the cause of clinical variability cannot be resolved until the gene(s) causing BOR syndrome are mapped. DNA from four generations of a family with autosomal dominant BOR syndrome have been typed with a series of genetic markers on the long arm of chromosome 8. Using two point linkage analysis, a significant lod score of Z = 4.0 at {theta} = 0.05 was obtained with the D8S165 microsatellite marker. Multipoint analyses with 8q markers place the gene for BOR between the markers D8S87 and D8S165.


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