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

Childs Nerv Syst. 2005 Jan;21(1):62-8. doi: 10.1007/s00381-004-1005-4. Epub 2004 Sep 1.


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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 17*
  • Cloning, Molecular
  • Computational Biology / methods*
  • Family Health
  • Female
  • Humans
  • Male
  • Moyamoya Disease / genetics*
  • RNA, Messenger / biosynthesis
  • Reverse Transcriptase Polymerase Chain Reaction / methods
  • Sequence Analysis / methods*


  • RNA, Messenger