Objective: To clone a new deafness associated gene.
Methods: Molecular database search, RACE and cDNA library screen were applied.
Results: A new gene, named dystonia/deafness peptide like (DDPL) (GeneBank Accession Number: DDPL2 AF165967) and mapped to 11q22.1-22.2, was cloned. DDPL had two different mRNA splicing types and accordingly encoded 83 and 51 amino acids. DDPL transcripts were detected in a range of adult and fetal tissues. A pseudogene of DDPL, named DDPLphi which was shown lying within Xq25-q26, showed 96.9% sequence identity with DDPL1 cDNA sequence across 382 bp.
Conclusion: DDPL lies within the 5.2 Mb interval of 11q22.1-q22.2 between D11S939 and D11S1347, and has a high identity with the DFN-1/MTS associated gene-DDP.