| Project/Area Number |
14370476
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Orthopaedic surgery
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| Research Institution | RIKEN |
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Principal Investigator |
IKEGAWA Shiro RIKEN, Laboratory for Bone and Joint Diseases, Laboratory Head, 変形性関節症関連遺伝子研究チーム, チームリーダー (30272496)
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| Project Period (FY) |
2002 – 2003
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| Project Status |
Completed (Fiscal Year 2003)
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| Budget Amount *help |
¥13,300,000 (Direct Cost: ¥13,300,000)
Fiscal Year 2003: ¥6,400,000 (Direct Cost: ¥6,400,000)
Fiscal Year 2002: ¥6,900,000 (Direct Cost: ¥6,900,000)
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| Keywords | genetic diagnosis / skeletal dysplasia / bone and joint disease / mutation / pseudoachondroplasia / MED / COMP / COL2A1 / pseudochondroplasia / 疾患遺伝子 / 遺伝子解析 / 遺伝子 |
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| Research Abstract |
To establish a system for DNA diagnosis of skeletal dysplasias, genetic disorders of bone and cartilage, and gain insight for their pathogenesis, I performed genetic analysis of skeletal dysplasias and obtained the following results.
1.Direct sequencing is not always reliable. Allele specific PCR amplification could occur due to sequence identity between a PCR primer and an amplicon.
2.We identified 3 novel EBP mutations in X-linked dominant chondrodysplasia punctata and found skewed X-chromosome inactivation causes intra-familial phenotypic variation.
(1)We identified 9 novel COMP mutations in pseudoachondroplasia and MED (multiple epiphyseal dysplasia) and genotype-phenotype association.
(2)We identified for the first time that platyspondylic skeletal dysplasia, Torrance type is caused by COL2A1 mutation.
(3)We found novel mutations in the following disease:
(4)COL2A 1 in hypochondrogenesis、 spondyloepiphyseal dysplasia congenita、 Kniest dysplasia、Stickler syndrome and spondyloepiphyseal dysplasia tarda.
(5)MAIN3 and COL9A3 in MED.
(6)RMRP in Cartilage-Hair ].
(7)TGFB1 in Camurati-Engelmann disease.
(8)SBDS in Shwachman-Diamond syndrome.
3.We found circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations.
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