Gene analysis of Williams syndrome
| Project/Area Number |
12670776
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | KITASATO UNIVERSITY |
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Principal Investigator |
HIROTA Hamao Kitasato Univ.School of Medicine Research Associate, 医学部・小児科, 助手 (20208888)
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| Co-Investigator(Kenkyū-buntansha) |
HIRAISI Satoshi Kitasato Univ.School of Medicine Associate Professor, 医学部・小児科, 助教授 (80118835)
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| Project Period (FY) |
2000 – 2002
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| Project Status |
Completed (Fiscal Year 2002)
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| Budget Amount *help |
¥3,300,000 (Direct Cost: ¥3,300,000)
Fiscal Year 2002: ¥900,000 (Direct Cost: ¥900,000)
Fiscal Year 2001: ¥900,000 (Direct Cost: ¥900,000)
Fiscal Year 2000: ¥1,500,000 (Direct Cost: ¥1,500,000)
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| Keywords | Williams syndrome / Gene analysis / FISH / Williams syndrome / Williams Syndrome / 重複DNA塩期配列 |
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| Research Abstract |
Williams syndrome (WS) is characterizes by distinct facial change, mental retardation, abnormal cognitive profile and cardiovascular diseases. Molecular genetics studies have indicted that deletion at the 7q11.23 (1.5Mbp) causes WS. Main purpose of this study is to identify the relationship between specific genes and phenotyoic features of WS. Subjects were selected based on their deletion status determined by fluorescence in situ hybridization using a panel of 24 BACs and cosmids spanning the region commonly deleted and single gene analysis using Southern blotting. From the cohort of subjects, three had atypical deletions. Physical examinations and cognitive tests were administered to the three subjects and the results were compared to those from a cohort of typical WS subjects. Results : The molecular results indicate smaller deletions for each subject. In all three cases, typical Williams facies were absent and visual spatial abilities were above that of full deletion WS subjects, particularly in the qualitative aspects of visual spatial processing. Conclusions : Combining the molecular analysis with the cognitive results suggest that the genes GTF2IRD1 and GTF2I contribute to deficits on visual spatial functioning. These detail data was reported in Genetics in Medicine (2003. Volume5(4) July/August P311-321).
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Report
(4 results)
Research Products
(7 results)
