Analysis of FKBP10, SERPINH1, and SERPINF1 genes in patients with osteogenesis imperfecta
| Autor: | Maira Trancozo, V R R Nunes, Flavia de Paula, V. Sipolatti, M R G O Rebouças, Clara Barbirato |
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| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Gene Expression Genes Recessive 030209 endocrinology & metabolism Disease Biology medicine.disease_cause Bone and Bones Tacrolimus Binding Proteins 03 medical and health sciences 0302 clinical medicine Genetics medicine Humans Missense mutation In patient Nerve Growth Factors Eye Proteins skin and connective tissue diseases HSP47 Heat-Shock Proteins Molecular Biology Gene Polymorphism Single-Stranded Conformational Serpins Mutation Base Sequence Case-control study General Medicine Osteogenesis Imperfecta medicine.disease 030104 developmental biology Osteogenesis imperfecta Case-Control Studies sense organs Genetic diagnosis Brazil |
| Zdroj: | Genetics and Molecular Research. 15 |
| ISSN: | 1676-5680 |
| DOI: | 10.4238/gmr.15038665 |
| Popis: | Osteogenesis imperfecta (OI) is a heterogeneous disorder that causes fragility, deformity, and fractures in bones. A large number of genes that are associated with the disease have been identified in the last decade; this makes the genetic diagnosis of OI more difficult. To improve our knowledge of the genetic mutation profile in OI we used single-stranded conformation polymorphism screening and automated sequencing to investigate the SERPINH1, FKBP10, and SERPINF1 genes, which are related to recessive OI, in 23 unrelated Brazilian patients. Nine rare changes and four common polymorphisms were detected. Most changes were benign genetic variants. In general, changes in the SERPINH1 and SERPINF1 genes were synonymous polymorphisms or missense changes located in non-coding regions. A pathogenic change was found in the FKBP10 gene. The characterization of mutations related to OI in distinct populations can improve our knowledge of the genetic aspects of OI and help us develop molecular strategies for the diagnosis of the disease. |
| Databáze: | OpenAIRE |
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