2001 Fiscal Year Final Research Report Summary
Searching the Causative Gene of Familial Moyamoya Disease (Spontaneous Occlusion of the Circle of Willis)
| Project/Area Number |
11470281
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Cerebral neurosurgery
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| Research Institution | HOKKAIDO UNIVERSITY |
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Principal Investigator |
HOUKIN Kiyohiro Hokkaido Univ., Grad. School of Med., Asso. Prof., 大学院・医学研究科, 助教授 (90229146)
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| Co-Investigator(Kenkyū-buntansha) |
KURODA Satoshi Hokkaido Univ., Medical Hospital, Assistant, 医学部・附属病院, 助手 (10301904)
TADA Mitsuhiro Hokkaido Univ., Institute for Genet. Med., Asso. Prof., 遺伝子病制御研究所, 助教授 (10241316)
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| Project Period (FY) |
1999 – 2001
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| Keywords | Moyamoya disease / positional cloning / chromosome 17q25 / Linkage analysis |
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| Research Abstract |
Moyamoya disease is a cerebrovascular disease of unknown cause that mainly affects Japanese children. To see whether a gene related to Moyamoya disease is loc on chromosome 17, we have conducted microsatellite linkage analyzes on eight families and 16 affected sib pairs of Moyamoya disease. Two-point linkage analysis gave a maximum LOD score of 3.11 at the recombination fraction of 0.00 for the marker a locus D17S939. The affected pedigree member method also showed a significantly low P-value (< 1.0 x 10-5) for the five adjacent markers at 17q25. Multipoint linkage analysis also indicated that the disease gene is contained within D17S785-D17S836, a 9-cM region, with a maximum LOD score of 4.58 (Yamauchi et al., 2000). To find the causative gene in this particular region of chromosome 17q25, we are now conducting sequencing studies on a total of 59 known genes and 102 ESTs for the patients and non-diseased individuals in the pedigrees. At the moment, we have not succeeded to discover the causative gene. We are continuing the sequence studies by employing new strategies utilizing information on SNPs, CpG islands, and other genome sequencing data.
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Research Products
(12 results)
