X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34.
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.
Wallis
C
C
Department of Human Genetics, Medical School, University of Cape Town, South Africa.
Ballo
R
R
Wallis
G
G
Beighton
P
P
Goldblatt
J
J
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