Deletion mapping of the DFN3 locus at Xq21.1
- Uppsala Univ. (Sweden)
- Universite de Strasbourg (France); and others
A gene responsible for progressive mixed deafness with stapes fixation and perilymphatic gusher (DFN3) has previously been mapped to Xq132-q21. Molecular characterization of a family with X-linked sensorineural deafness revealed a deletion of locus DXS169 whereas the more telomeric locus DXS26 was intact. Patients affected by DFN3 have previously been reported to be deleted for DXS26 but not for DXS169, and we assumed that a common deletion overlap between the two markers should involve a gene for DFN3. Both loci DXS169 and DXS26 were sequenced and used for PCR-based screening of a mega YAC library (CEPH). One YAC of 1.1 Mb that bridges both loci was isolated. A pulsed-field map was constructed; Alu-PCR clones were generated from the YAC, and their relative positions were determined. Selected Alu clones were sequenced, converted into STSs and used to map the deletion breakpoints. Cosmids, homologous to the YAC, were isolated and mapped to the region corresponding to the deletion overlap. The region should contain at least part of the DFN3 gene and selected cosmids are being used in the search for transcribed sequences.
- OSTI ID:
- 134397
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-1131
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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