| Project/Area Number |
01480263
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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 | Keio University |
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Principal Investigator |
MATSUO Nobutake Keio Univ. Dept. of Pediatrics, Associate Professor, 医学部, 助教授 (50173802)
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| Co-Investigator(Kenkyū-buntansha) |
KUDO Jun Keio Univ. Dept. of Molecular Genetics, Instructor, 医学部, 助手 (80178003)
SHIMIZU Nobuyoshi Keio Univ. Dept. of Molecular Genetics, Professor, 医学部, 教授 (50162706)
ARAKI Kiyoshi Keio Univ. Dept. of Pediatrics, Instructor, 医学部, 助手 (60167997)
TAMAI Shinya Keio Univ. Dept. of Pediatrics, Instructor, 医学部, 助手 (80171883)
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| Project Period (FY) |
1989 – 1990
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| Project Status |
Completed (Fiscal Year 1990)
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| Budget Amount *help |
¥3,700,000 (Direct Cost: ¥3,700,000)
Fiscal Year 1990: ¥1,500,000 (Direct Cost: ¥1,500,000)
Fiscal Year 1989: ¥2,200,000 (Direct Cost: ¥2,200,000)
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| Keywords | GH-1 gene / growth hormone / short stature / sequence analysis / RFLP polymorphism / 成長ホルモン単独欠損症1A型 / Sanger法 / 遺伝性成長ホルモン単独欠損症 / DNA診断 / RFLP / GHーN遺伝子 |
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| Research Abstract |
Previous studies have shown that isolated growth hormone deficiency, type 1A is invariably associated with complete deletion of the GH-1 gene. The purpose of this study is twofold : 1) to document a 4-year-old Japanese girl who, without GH-1 gene deletion, had a clinical phenotype identical to that of isolated growth hormone deficiency, type 1A. 2) to delineate the molecular defect of her abnormality by GH-1 gene RFLP linkage analysis and GH-1 gene sequence analysis.
Results were summarized as follows : 1) There was no apparent linkage between Hinc II, Bgl II, and Msp I RFLP and her phenotype. 2) The 3.8 kb Bam HI and 25 kb Hind III fragments were found in the patient and all family members. 3) Her GH-1 gene was structurally intact by direct sequencing.
These data indicate that her molecular defect does not reside in the GH-1 gene and that several genetic disorders other than GH-1 gene deletion or mutations are responsible for the phenotype of isolated growth hormone deficiency, type 1A.
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