| Project/Area Number |
04557045
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| Research Category |
Grant-in-Aid for Developmental Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Dermatology
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| Research Institution | Keio Gijuku University |
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Principal Investigator |
NISHIKAWA Takeji Keio Univ.Sch.Med., Professor, 医学部・皮膚科, 教授 (50051579)
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| Co-Investigator(Kenkyū-buntansha) |
SUZUMORI Kaoru Medical School, Nagoya City University, Assist.Prof., 医学部・産科婦人科, 助教授 (80117829)
SHIMIZU Hiroshi Keio Univ.Sch.Med., Instructor, 医学部・皮膚科, 助手 (00146672)
HASHIMOTO Takashi Keio Univ.Sch.Med., Assist.Prof., 医学部・皮膚科, 講師 (20129597)
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| Project Period (FY) |
1992 – 1993
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| Project Status |
Completed (Fiscal Year 1993)
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| Budget Amount *help |
¥8,700,000 (Direct Cost: ¥8,700,000)
Fiscal Year 1993: ¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 1992: ¥7,700,000 (Direct Cost: ¥7,700,000)
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| Keywords | prenatal diagnosis / epidermolysis bullosa / fetal skin biopsy / GB3 / LH7.2 / 19-DEJ-1 / electron microscopy / 表皮水疱症 / 遺伝相談 |
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| Research Abstract |
With the Grant-in-Aid for Scientific Research (B), we have made a prenatal diagnosis of epidermolysis bullosa for the first time in Japan. Prenatal diagnosis of epidermolysis bullosa using fetal skin biopsy specimens has been successfully performed in Europe and America, but this technique has not previously been attempted in Asia. We, for the first time in Asia, attempted tomake a prenatal diagnosis of epidermolysis bullosa in high-risk fetus by fetal skin biopsy. A skin biopsy was obtained from the fetus as risk of gravis type ofjunctional epidermolysis bullosa of Herlitz. The biopsy specime was studied by electron microscopy and by immunohistochemistry using various monoclonal antibodies against epidermal basement membrane zone. There were were no ultrastructural abnormalities in the basement membrane zone, including the hemidesmosomes. Indirect immunofluorescence study showed normal expression of GB3 antigen. The pregnancy was continued, and a normal, healthy infant was born. The prenatal diagnosis of epidermolysis bullosa is now available in Tokyo. This clinical diagnostic service is available to families from various parts of Asia.
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