Thesis S2

Osteogenesis Imperfecta Dominant and Recessive Mould Background Osteogenesis Imperfecta (OI) is heterogenous genetic assumption in the mold I collagen and is characterized by nervousness plague mor and fractures delay mutable severity and presumed or proven shortcoming in mold I collagen biosynthesis. Mold I collagen is the enlightened protein allaying the extracellular matrix of plague and skin in anthropological mass.There are 3 pathogenesis mechanisms of OI: 85-90% of living-souls delay OI accept dominant counterexhibition in mold I procollagen genes (COL1A1 and COL1A2) and recessive counterexhibition of OI arise in genes concerned in shortcoming of collagen modifying enzymes (CRTAP, LEPRE1 and PPIB) and in genes coding mold I procollagen chaperones (SERPINH1 and FKBP10). A new OI applicant recessive mould had already revealed, SP7/Osterix (OSX), encodes a transcription constituent containing three Cys2Hys2 zinc-finger DNA costive territory at its C terminus caused plague construction assumption.Methods To substantiate the intercourse of counterexhibitions and the mould of legacy in collagen mold I from living-souls delay clinical exhibition of OI (mold I-IV). We manufactured all gene sequencing in dominant genes (COL1A1, COL1A2) . For living-souls that we can not invent counterexhibition in twain of those genes and domiciled on biochemical screening of fibroblast specimen of patients, we set up all progression for overmodification patients to run delay CRTAP, LEPRE1 and PPIB genes and for non overmodification to run delay SERPINH1 and FKBP10 in a cohort of 107 patients.We designed to observe for a new applicant genes, if we can not invent counterexhibitions for patients that we already run delay unreserved published genes caused OI. Results In 107 patients delay accomplished anatomy, we plant 28 counterexhibitions, 8 counterexhibitions in COL1A1 and 20 counterexhibitions in COL1A2. We besides plant 1 homozygote counterexhibition in FKBP10. Conclusion Key words: OI, overmodification, non overmodification, unreserved published genes of OI, new applicant genes of OI