| Project/Area Number |
61480219
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| Research Category |
Grant-in-Aid for General Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Kumamoto University |
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Principal Investigator |
MATSUD Ichiro Kumamoto University Medical School, Professor, 医学部, 教授 (10000986)
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| Co-Investigator(Kenkyū-buntansha) |
ENDO Fumio Kumamoto University Hospital, Lecture, 医学部付属病院, 講師 (00176801)
AKABOSHI Izumi Kumamoto University Medical School, Instructor, 医学部, 助手 (30145312)
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| Project Period (FY) |
1986 – 1987
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| Project Status |
Completed (Fiscal Year 1987)
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| Budget Amount *help |
¥4,100,000 (Direct Cost: ¥4,100,000)
Fiscal Year 1987: ¥1,500,000 (Direct Cost: ¥1,500,000)
Fiscal Year 1986: ¥2,600,000 (Direct Cost: ¥2,600,000)
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| Keywords | Isolated growth hormone (hGH) deficiency / 成長ホルモン遺伝子欠失 / ヒト成長ホルモン / 抗成長ホルモン抗体 / 成長ホルモン単独欠損症 / 遺伝子解析 |
|---|
| Research Abstract |
We studied five Japanese patients with isolated growth hormone (hGH) deficiency from four families, and four patients were second cousins. Each patient was homozygous for a deletion of approximately 7.5 kilobases, which included the hGH-N gene. The deletions in four patients belonging to three different families were associated with the same restriction fragment length polymorphism haplotype, while the deletion of the other patient was associated with a different haplothype.
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