ヒト顎関節円板・滑膜病変に対するANK遺伝子を用いた遺伝子診断法の開発

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1, Human homologue of ANK gene (ANKH) expression in. synovial membrane and articular disk of human temporonmandibuiar joint (TMJ)We had established the primary culture system of human synovial cells erived from articuluar disks which were surgically dissected out on temporomandibular disorder (T.MMD) patients. Total RNA was. extracted from 5 different kind of these cells. RT-PCR as performed by using,specific primers for ANKH. Specific band was found in all cases. It was confirmed that this band represented ANKH by direct sequencing. Therefore, we confirmed ANKH mRMA expression in synovial membrane of human TMJ.2, Mutation analysis, of ANKH gene in internal derangement of TMJHuman gene analysis -in TMD patients was approved by the medical ethics committee of Kyoto University on December 9, 2001 (#G86). After informed consent was obtained, we took 10ml of blood from patients which had TMJ internal. derangement and closed lock. 80 samples were collected and stored so far. Genomic DNA was extracted. In 12 cases, promoter region and every 11 exons were amplified and purified. Then they were directly sequenced in coding region and exon-introm boundary. We found 3 novel polymorphism in exon 2, 8 and intron 10. Furthermore, we identified multiplication of GGC triple repeat in Promoter region. As to GGC triple repeat, we are working on case-control study using many-cases.