| Project/Area Number |
12670751
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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 | Tottori University |
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Principal Investigator |
KANZAKI Susumu Tottori Univ., Faculty of Med., Professor, 医学部, 教授 (90224873)
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| Co-Investigator(Kenkyū-buntansha) |
TSUKUDA Toshinori Tottori Univ., Univ. Hospital, Lecturer, 医学部・附属病院, 助手 (10335531)
HANAKI Keiichi Tottori Univ., Faculty of Med., Associate Prof., 医学部, 助教授 (20238041)
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| Project Period (FY) |
2000 – 2001
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| Project Status |
Completed (Fiscal Year 2001)
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| Budget Amount *help |
¥3,500,000 (Direct Cost: ¥3,500,000)
Fiscal Year 2001: ¥1,200,000 (Direct Cost: ¥1,200,000)
Fiscal Year 2000: ¥2,300,000 (Direct Cost: ¥2,300,000)
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| Keywords | insulin-like growth factor / IGF-I / IGF-receptor / IUGR / short stature / 胎内発育不全性低身長 / 胎内発育遅延 / 低身長 / 成長ホルモン分泌不全症 / GH-1遺伝子 / 家族性 |
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| Research Abstract |
Background : A recent report showed that the birth weight of type 1 insulin-like growth factor (IGF) receptor (IGF-IR) knockout mouse is about 45 % of that of wild type mouse. This suggests that anomalies in IGF-IR may cause intra-uterine growth retardation (IUGR) in human. Therefore, we analyzed the IGF-IR gene in patients with IUGR short stature.
Subjects and Methods : We employed 21 IUGR short stature patients (IUGR group), 9 children born as IUGR but became normal height until 3 yr. old (catch-up group), and 18 normal adults (control group). The DNA of the patients and control subjects was analyzed for mutations in the gene for IGF-IR.
Results : Deletion of 4 bp in 5'UTR region of exon 1 (977-980 delCTTT) was found in one patient. New silent mutation in exon 3 (204 CCC/CCT) was found in another patient. In addition we found three previously reported silent mutations, exon 11 (736 ACC/ACT) in nine patients ; exon 16 (1012 GAG/GAA) in 13 patients ; and exon 21 (1316 TAC/TAT) in two patients. In introns, two new single nucleotide mutations were found in intron 13 (-53 T/C in 12 patients) and in intron 15 (+72 A/G in nine patients). In intron 20, previously reported mutation (-34 G/A) was found in 11 patients. The incidence of the mutation in intron 13 was low in the catch-up group compared with IUGR and control groups.
Conclusion : Four bp deletion in 5'UTR region of exon 1 was found in one patient. Next, we must analyze the IGF-IR gene of family members, and also study the function of this receptor. In addition to previously reported silent mutations, we also found new single nucleotide mutation in exon 3, intron 13, and 15. We will study the role of these single nucleotide polymorphism on antenatal growth as well as postnatal growth.
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