Case Reports
doi: 10.1016/0888-7543(88)90119-x.
X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34
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- PMID: 3243543
- DOI: 10.1016/0888-7543(88)90119-x
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Case Reports
X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34
Genomics.
1988 Nov.
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.
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