title: Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families.
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.
authors.affiliation: Unit of Clinical and Molecular Genetics, Institute of Child Health, London, UK.
authors.forename: M
authors.initials: M
authors.lastname: Bitner-Glindzicz
authors.forename: Y
authors.initials: Y
authors.lastname: de Kok
authors.forename: D
authors.initials: D
authors.lastname: Summers
authors.forename: I
authors.initials: I
authors.lastname: Huber
authors.forename: F P
authors.initials: FP
authors.lastname: Cremers
authors.forename: H H
authors.initials: HH
authors.lastname: Ropers
authors.forename: W
authors.initials: W
authors.lastname: Reardon
authors.forename: M E
authors.initials: ME
authors.lastname: Pembrey
authors.forename: S
authors.initials: S
authors.lastname: Malcolm
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D004276:DNA, Satellite; D003638:Deafness / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D012091:Repetitive Sequences, Nucleic Acid; D014960:X Chromosome
chemical_list: D017931:DNA Primers; D004276:DNA, Satellite