responsible gene for hemangioma
| Project/Area Number |
15591900
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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 |
Plastic surgery
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| Research Institution | Showa University |
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Principal Investigator |
HOSAKA Yoshiaki Showa University, School of Medicine, Professor, 医学部, 教授 (40156998)
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| Co-Investigator(Kenkyū-buntansha) |
KADOMATSU Koichi Showa University, School of Medicine, Assistant Professor, 医学部, 講師 (90317529)
渡邊 彰二 昭和大学, 医学部, 助手 (60276590)
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| Project Period (FY) |
2003 – 2004
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| Project Status |
Completed (Fiscal Year 2004)
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| Budget Amount *help |
¥3,300,000 (Direct Cost: ¥3,300,000)
Fiscal Year 2004: ¥1,300,000 (Direct Cost: ¥1,300,000)
Fiscal Year 2003: ¥2,000,000 (Direct Cost: ¥2,000,000)
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| Keywords | hemangioma / capillary hemangioma / capillary malformation / strawberry mark / 単純性血管腫 / 苺状血管腫 |
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| Research Abstract |
The same mutation about a RASAI gene, as it had already reported for 6 Caucasian families in 2003, was not confirmed in a Japanese largest family. We tried reexamination about clinical features of capillary malformation with plastic surgeons, and also tried fine full sequence about genomic DNA again, but after all it was not proved the mutation. It was certain that the mutated gene should be located in 5q11-23 area by physical mapping study for the same Japanese family, we discussed about another candidate gene rather than RASA1 in this area. Reported heterozygous inactivating mutation in RASA1 gene was proved in. only 6 among 14 candidate Caucasian families, genetic sequence to find the mutation of another candidate gene in 5q11-23 area is still continue by overseas colleague, we shifted the study to confirm whether or not the same RASA1 gene mutation can be confirmed in Japanese small candidate families and sporadic cases. Because it was very likely that a capillary malformation was somatic mutation in sporadic cases, we planned to collect an affected area of patients, and at a same time to find an antibody for RASA1 gene which is not available in commercial base, for immunochemical study. With a permission of an ethic committee of Showa University about collection of an affected part, the specimens were collected under the condition of fundamental principles of research on the human genome proposed by council for science and technology, bioethics committee of 3 ministry. The number of samples are increasing and an great effort to obtain an antibody is in progress, and is going to enforce immuno-histochemical study and RP PCR after obtaining an antibody.
Physical Mapping to find the location of responsible gene for inherited infantile hemangioma. is still on the way, going to search the point to show higher LOD score more than 3.0.
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Report
(3 results)
Research Products
(1 results)
