| Summary: | <p>Abstract</p> <p>Background</p> <p>A common feature of neuroblastoma tumours are partial deletions of the short arm of chromosome 1 (1p-deletions). This is indicative of a neuroblastoma tumour suppressor gene being located in the region. Several groups including our have been studying candidate neuroblastoma genes in the region, but no gene/genes have yet been found that fulfil the criteria for being a neuroblastoma tumour suppressor. Since frequent mutations have not been detected, we have now analyzed the expression and promoter CpG island methylation status of the genes <it>UBE4B</it>, <it>KIF1B</it>, <it>PGD</it>, <it>APITD1</it>, <it>DFFA </it>and <it>PEX14 </it>in the 1p36.22 region in order to find an explanation for a possible down-regulation of this region.</p> <p>Results</p> <p>The current study shows that gene transcripts in high stage neuroblastoma tumours are significantly down-regulated compared to those in low stage tumours in the 1p36.22 region. CpG island methylation does not seem to be the mechanism of down-regulation for most of the genes tested, since no methylation was detected in the fragments analyzed. One exception is the CpG island of <it>APITD1</it>. Methylation of this gene is also seen in blood from control individuals and is therefore not believed to participate in tumour development.</p> <p>Conclusion</p> <p>The genes <it>UBE4B</it>, <it>KIF1B</it>, <it>PGD</it>, <it>APITD1</it>, <it>DFFA </it>and <it>PEX14 </it>are down-regulated in high stage NB tumours, a feature that can not be explained by CpG island methylation.</p>
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