Research concerning the genes responsible for osteoarthritis by association study and sib-pair linkage analysis

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In order to search die genes responsible for osteoarthritis (OA), association study between the gene responsible for the model mouse and osteoarthritis were performed and sib-pair linkage analysis were projected,1. Collecting genomic DNA of osteoarthritis patientsGenomic DNAs of 173 sporadic cases and 29 family cases (38 sibpairs), who have osteoarthritis without influence of injury, were collected,2. Analysis of the gene responsible for the osteoarthritis model mouseAssociation, study between the gene responsible for the model mouse and osteoarthritis was performed, A human homologue of mouse ank, which is responsible, for the OA model mouse, was cloned. The nucleotide sequence of full-length cDNA and promoter region of the ANKH gene was elucidated. Using 40 samples of genomic DNA, sequence variances in the ANKH gene were searched by PCR-SSCP and direct sequencing method. Five polymorphisms were found, A1303G in coding region, G1831A in 31untranslated region, eight-base-pairs deletionin 5' untranslated region, -785A/G and -639 delC in the promoter region. Using 202 samples of 0 A patients and 103 samples of non-OA controls, association between these polymorphisms and OA were analyzed by qui-square test. An association between eight-base-pairs deletion in 51untranslated region and OA was So it found. So it was found. Suggested that the ANKH gene has influence in the etiology of osteoarthritis. Found.3. Sib-pair linkage analysisCollected samples of family cases are not enough to perform the sib -pair linkage analysis. Further collection is necessary.