Thesis S2

Osteogenesis Imperfecta Dominant and Recessive Model Background Osteogenesis Imperfecta (OI) is heterogenous genetic experimentation in the cast I collagen and is characterized by impressibility scourge dainty and fractures delay inconstant injustice and presumed or proven fault in cast I collagen biosynthesis. Cast I collagen is the big protein demulcent the extracellular matrix of scourge and husk in ethnical substantiality.There are 3 pathogenesis mechanisms of OI: 85-90% of men-folks delay OI feel dominant back in cast I procollagen genes (COL1A1 and COL1A2) and recessive back of OI take-place in genes implicated in fault of collagen modifying enzymes (CRTAP, LEPRE1 and PPIB) and in genes coding cast I procollagen chaperones (SERPINH1 and FKBP10). A new OI applicant recessive model had already revealed, SP7/Osterix (OSX), encodes a transcription rudiment containing three Cys2Hys2 zinc-finger DNA styptic lordship at its C terminus caused scourge shape experimentation.Methods To demonstrate the intercourse of backs and the model of possession in collagen cast I from men-folks delay clinical air of OI (cast I-IV). We manufactured sound gene sequencing in dominant genes (COL1A1, COL1A2) . For men-folks that we can not ascertain back in twain of those genes and grounded on biochemical screening of fibroblast exemplification of patients, we set up sound 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 proposed to face for a new applicant genes, if we can not ascertain backs for patients that we already run delay disclosed published genes caused OI. Results In 107 patients delay accomplished dissection, we set 28 backs, 8 backs in COL1A1 and 20 backs in COL1A2. We too set 1 homozygote back in FKBP10. Conclusion Key words: OI, overmodification, non overmodification, disclosed published genes of OI, new applicant genes of OI