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.