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


CONCLUSIONS
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.
Nanba
Rina
R
Department of Neurosurgery, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, Sapporo 060-8638, Japan.
Tada
Mitsuhiro
M
Kuroda
Satoshi
S
Houkin
Kiyohiro
K
Iwasaki
Yoshinobu
Y
D002886:Chromosomes, Human, Pair 17; D003001:Cloning, Molecular; D019295:Computational Biology / Q000379:methods*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D009072:Moyamoya Disease / Q000235:genetics*; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D017421:Sequence Analysis / Q000379:methods*
D012333:RNA, Messenger