Thesis S2

Osteogenesis Imperfecta Dominant and Recessive Model Background Osteogenesis Imperfecta (OI) is heterogenous genetic assumption in the stamp I collagen and is characterized by susceptibility nuisance softness and fractures after a while wavering hardship and presumed or proven omission in stamp I collagen biosynthesis. Stamp I collagen is the capacious protein demulcent the extracellular matrix of nuisance and skin in ethnical substantiality.There are 3 pathogenesis mechanisms of OI: 85-90% of beings after a while OI enjoy dominant change in stamp I procollagen genes (COL1A1 and COL1A2) and recessive change of OI happen in genes compromised in omission of collagen modifying enzymes (CRTAP, LEPRE1 and PPIB) and in genes coding stamp I procollagen chaperones (SERPINH1 and FKBP10). A new OI applicant recessive model had already biblical, SP7/Osterix (OSX), encodes a transcription constituent containing three Cys2Hys2 zinc-finger DNA styptic lordship at its C terminus caused nuisance structure assumption.Methods To confirm the intercourse of changes and the model of bequest in collagen stamp I from beings after a while clinical likelihood of OI (stamp I-IV). We done well gene sequencing in dominant genes (COL1A1, COL1A2) . For beings that we can not furnish change in twain of those genes and established on biochemical screening of fibroblast pattern of patients, we set up well order for overmodification patients to run after a while CRTAP, LEPRE1 and PPIB genes and for non overmodification to run after a while SERPINH1 and FKBP10 in a cohort of 107 patients.We infull to face for a new applicant genes, if we can not furnish changes for patients that we already run after a while disclosed published genes caused OI. Results In 107 patients after a while full resolution, we base 28 changes, 8 changes in COL1A1 and 20 changes in COL1A2. We besides base 1 homozygote change in FKBP10. Conclusion Key words: OI, overmodification, non overmodification, disclosed published genes of OI, new applicant genes of OI