Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families. Issue 12 (December 1994)

• Record Type: Journal Article
• Authors: Bitner-Glindzicz, M; de Kok, Y; Summers, D; Huber, I; Cremers, F P; Ropers, H H; Reardon, W; Pembrey, M E; Malcolm, S
• Is Part Of: Journal of medical genetics. Volume 31:Issue 12(1994)
• Page Start: 916
• Page End: 921
• Publication Date: 1994-12
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.31.12.916
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : We have used three highly polymorphic microsatellite repeats from Xq21 to type families in whom a gene for X linked deafness with perilymphatic gusher (DFN 3) was segregating. All three markers were tightly linked to the disease in its radiologically normal and abnormal forms, with a maximum lod score of 10.37 with DXS995 and 8.44 with DXS986 at zero recombination, and 14.03 with DXS1002 at theta = 0.01. In an isolated case of deafness of this type, DXS995 indicated either the first recombination observed between the marker and the disease gene or a new mutation in the proband. Southern blotting using a cosmid fragment from the candidate region has confirmed a de novo mutation by showing a deletion in the proband which is not present in his mother as judged by dosage analysis. We also describe a family with a paracentric inversion associated with a microdeletion and discuss how deletion mapping using these and other markers in the region has helped to define a candidate region for the gene.