Sequence analysis and bioinformatics analysis of chromosome 17q25 in familial moyamoya disease
Sequence analysis and bioinformatics analysis of chromosome 17q25 in familial moyamoya disease
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DOI：
10.1007/s00381-004-1005-4
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发表时间：
2005-01-01
影响因子：
1.4
通讯作者：
Iwasaki, Y
中科院分区：
文献类型：
--
作者：
Nanba, R;Tada, M;Iwasaki, Y
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.
