| Project/Area Number |
04454378
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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 |
Orthopaedic surgery
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| Research Institution | Kagoshima University |
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Principal Investigator |
SAKOU Takashi Kagoshima University, Faculty of Medicine, Orthopaedic, Professor, 医学部, 教授 (10041295)
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| Co-Investigator(Kenkyū-buntansha) |
MATSUNAGA Shunji Kagoshima University, Faculty of Medicine, Orthopaedic, Professor, 医学部, 講師 (90229500)
TAKETOMI Eiji Kagoshima University, Faculty of Medicine, Orthopaedic, Professor, 医学部・附属病院, 講師 (60179653)
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| Project Period (FY) |
1992 – 1994
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| Project Status |
Completed (Fiscal Year 1994)
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| Budget Amount *help |
¥5,400,000 (Direct Cost: ¥5,400,000)
Fiscal Year 1994: ¥1,900,000 (Direct Cost: ¥1,900,000)
Fiscal Year 1993: ¥1,600,000 (Direct Cost: ¥1,600,000)
Fiscal Year 1992: ¥1,900,000 (Direct Cost: ¥1,900,000)
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| Keywords | Gene analysis / OPLL gene / RELP / Collagen alpha2 / HLA haprotype / 6th chromosome / RFLP解析 / OPLL病因遺伝子 / ALP / BMP-2 / TNF-alpha / CoL llalpha2 / 後縦靭帯骨化症 / HLAタイピング / 遺伝解析 / HLA遺伝子 / 遺伝的多型 |
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| Research Abstract |
We attempted to identify the genes responsible for OPLL by means of DNA analysis of the families of patients with this disease. Lymphocytes were collected from a total of 40 members of 10 families for subsequent genetic analysis. Family members who shared a common HLA haplotype with the patient were found to have a high incidence of ossification of the posterior longitudinal ligament by X-ray examination. This finding suggests that some genetic factors, linked to HLA haplotypes, are involved in the onset of OPLL.We attempted to confirm the presence of this gene by searching for polymorphism of restriction fragments in the members of each patient's family, using a large DNA electrophoresis apparatus. This analysis revealed that the siblings who shared a common HLA haplotype with the patient often showed polymorphism of the 2.7 Kb DNA fragment on chromosome 6. We compared polymorphism of the 2.7 KB DNA fragmetn on chromosome 6 between patinets with OPLL and 40 healthy volunteers. This comparison, however, did not resolve the question of whether or not polymorphism of the 2.7 Kb DNA fragment is specific to OPLL patients.
We also analyzed the genetic polymorphism of alkaline phosphatase (ALP), bone morphogenic protein (BMP)-2, collagen alpha-2 and tissue necrosing factor (TNF)-alpha. This revealed that the incidence of polymorphism of the gene of collagen alpha-2 differs significantly between the OPLL group and the healthy controls. It is possible that polymorphism of collagen alpha-2 gene is rosponsible for the onset of OPLL.
The present stufy was the first DNA analysis of OPLL.We believe this study has served as pioneering work in the study of the etiology of OPLL,using the methods of molecular biology.
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