人神经性耳聋多肽因子样基因克隆和表达分析

Cloning and expression analysis of human dystonia/deafness peptide like gene

目的 克隆一个新的耳聋相关基因。方法 应用生物信息分析技术、RACE以及cDNA文库筛选。结果 克隆了人的进行性肌萎缩 /神经性耳聋多肽因子样基因 (dystonia/deafnesspeptidelike ,DDPL)。DDPL定位在 11q2 2 .1 2 2 .2 ,具有二种不同的组织剪接形式的mRNA(GeneBank接受号 :DDPL2AF16 5 96 7) ,分别编码 83个氨基酸及 5 1个氨基酸。DDPL在多种组织中表达。在Xq2 5 2 6上有一个假基因DDPLφ ,与DDPL1的一致性为 382bp(96 .9% )。 结论 DDPL位于 11q2 2 .1 2 2 .2的D11S939与D11S1347之间约 5 .4Mb的范围内 。

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 DDPLφ 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.