Sequence analysis and bioinformatics analysis of chromosome 17q25 in familial moyamoya disease
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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.
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.
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- Sequence analysis and bioinformatics analysis of chromosome 17q25 in familial moyamoya disease
Child's Nervous System
Volume 21, Issue 1 , pp 62-68
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- Moyamoya disease
- Familial occurrence
- Mutation analysis
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- Author Affiliations
- 1. Department of Neurosurgery, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, Sapporo 060-8638, Japan
- 2. Division of Cancer-Related Genes Research, Section of Molecular Pathogenesis, Institute for Genetic Medicine, Hokkaido University, North 15 West 7, Kita-ku, Sapporo 060-8638, Japan