Down's综合征关键区一个假基因的克隆与表达分析

Identification of a Pseudogene in Down's SyndromeCritical Region and it's Expression Analysis

利用生物信息分析方法与RACE在21号染色体长臂Down's综合征关键区克隆了一个新基因,命名为NY1,结构分析显示这一基因序列无内含子,无完整的阅读框,在3′端有PolyA尾序列.说明它可能为返座假基因.RT PCR与Northern杂交分析,这一基因在多种组织中有表达,但呈现出表达差异及组织特异性.

A new gene,named NY1 that mapped to Down's syndrome critical region of the long arm of human chromosome 21,was identified by bioinformatic analysis and rapid amplification of cDNA ends(RACE).Structural analysis reveals that NY1 has an intronless genomic sequence,a putative poly A site and has no complete open reading frame(ORF).The results suggest that NY1 might be a processed pseudogene.RTPCR and Northern blotting analysis have shown that NY1 is actively transcribed in some tissue examined and is weakly or not transcribed in other tissues.So there might be tissue specificity in the transcription of NY1.