title: X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34.
abstract: Molecular linkage analysis was undertaken on a large Mauritian kindred with X-linked mixed deafness, stapes fixation, and perilymphatic gusher (X-LDSF). DNA probe pDP34 (DXYS1) was tightly linked to the disorder, with a lod score of 6.32 at zero recombination. This observation indicates that the gene for this form of deafness maps to the Xq13-q21.1 region and has important implications for carrier screening and antenatal diagnosis.
authors.affiliation: Department of Human Genetics, Medical School, University of Cape Town, South Africa.
authors.forename: C
authors.initials: C
authors.lastname: Wallis
authors.forename: R
authors.initials: R
authors.lastname: Ballo
authors.forename: G
authors.initials: G
authors.lastname: Wallis
authors.forename: P
authors.initials: P
authors.lastname: Beighton
authors.forename: J
authors.initials: J
authors.lastname: Goldblatt
mesh_terms: D002874:Chromosome Mapping; D003638:Deafness / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007194:India / Q000208:ethnology; D008126:Lod Score; D008297:Male; D008436:Mauritius; D010375:Pedigree; D011110:Polymorphism, Genetic; D013201:Stapes Surgery; D014960:X Chromosome