| Project/Area Number |
10671015
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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 |
Kidney internal medicine
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| Research Institution | KAWASAKI MEDICAL SCHOOL |
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Principal Investigator |
NOMURA Shinsuke Medicine, Kawasaki Medical School, Assistant Professor, 医学部, 講師 (20198625)
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| Co-Investigator(Kenkyū-buntansha) |
NAITO Ichiro Shigei Medical Research Institute, Researcher, 超微病理部門, 副部長
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| Project Period (FY) |
1998 – 1999
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| Project Status |
Completed (Fiscal Year 1999)
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| Budget Amount *help |
¥3,000,000 (Direct Cost: ¥3,000,000)
Fiscal Year 1999: ¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 1998: ¥2,000,000 (Direct Cost: ¥2,000,000)
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| Keywords | Alport syndrome / Type IV Collagen / Glomerular Basement Membrane / Monoclonal antibody / Mutation / 診断基準 / 遺伝子診断 / IV型コラーゲンα鎖 |
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| Research Abstract |
Alport syndrome is a progressive hereditary kidney disease characterized by hematuria, sensorineural hearing loss and ocular lesions with structural defects in the glomerular basement membrane. Genetic heterogeneity of Alport syndrome has been recognized, and clinical features of the disease also vary from patient to patient, and family to family. The X-linked form has been shown to be caused by mutations in an α5(IV) collagen chain gene (COL4A5), while the autosomal recessive form has been shown to be caused by mutations in α3(IV) and α4(IV) collagen chain genes (COL4A3 and COL4A4). Intragenic CA repeat DNA markers recently found have been useful tools for identification of the inheritance mode. In addition, using monoclonal antibodies against synthetic peptides derived from cDNA data for each gene has also provided valuable information for determining the inheritance mode in each of the Alport families. These recent advances have enabled a better understanding of the pathogenesis of Alport syndrome and are expected to provide better genetic service for patients and families.
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