Sequence analysis and bioinformatics analysis of chromosome 17q25 in familial moyamoya disease

Objects: The pathogenesis of moyamoya disease is still unknown. The present study aimed to find out the responsible genes that are located in the 17q25 locus. Methods: Considering the function, we selected nine genes as candidates from a total of 65 genes identified in the 9-cM region of D17S785 - D17S836 in chromosome 17q25, and performed sequence analysis on the DNA samples obtained from a pedigree of familial moyamoya disease, which showed a complete linkage to the region by a haplotype analysis. Also, we attempted to identify candidate genes that have not been known but might be functionally relevant to the disease among a total of 2,100 expressed sequence tag ( EST) sequences using bioinformatics techniques. Results and conclusion: The sequence analysis could detect no mutation in the nine genes. Nor could we identify a novel candidate gene by the EST analysis. Further studies using alternative approaches are warranted to clarify the pathogenesis of moyamoya disease.