Thesis S2

Osteogenesis Imperfecta Dominant and Recessive Pattern Background Osteogenesis Imperfecta (OI) is heterogenous genetic disorder in the type I collagen and is characterized by susceptibility bone fragility and fractures with variable severity and presumed or proven defect in type I collagen biosynthesis.
Type I collagen is the abundant protein composing the extracellular matrix of bone and skin in human body.There are 3 pathogenesis mechanisms of OI: 85-90% of individuals with OI have dominant mutation in type I procollagen genes (COL1A1 and COL1A2) and recessive mutation of OI occur in genes involved in defect of collagen modifying enzymes (CRTAP, LEPRE1 and PPIB) and in genes coding type I procollagen chaperones (SERPINH1 and FKBP10). A new OI candidate recessive pattern had already revealed, SP7/Osterix (OSX), encodes a transcription factor containing three Cys2Hys2 zinc-finger DNA binding domain at its C terminus caused bone formation disorder.Methods To identify the presence of mutations and the pattern of inheritance in collagen type I from individuals with clinical appearance of OI (type I-IV). We performed whole gene sequencing in dominant genes (COL1A1, COL1A2) . For individuals that we can not find mutation in both of those genes and based on biochemical screening of fibroblast sample of patients, we set up whole sequence for overmodification patients to run with CRTAP, LEPRE1 and PPIB genes and for non overmodification to run with SERPINH1 and FKBP10 in a cohort of 107 patients.We proposed to look for a new candidate genes, if we can not find mutations for patients that we already run with known published genes caused OI.
Results In 107 patients with complete analysis, we found 28 mutations, 8 mutations in COL1A1 and 20 mutations in COL1A2. We also found 1 homozygote mutation in FKBP10. Conclusion Key words: OI, overmodification, non overmodification, known published genes of OI, new candidate genes of OI

Don't use plagiarized sources. Get Your Custom Essay on
Thesis S2
Just from $13/Page
Order Essay
Place your order
(550 words)

Approximate price: $22

Calculate the price of your order

550 words
We'll send you the first draft for approval by September 11, 2018 at 10:52 AM
Total price:
The price is based on these factors:
Academic level
Number of pages
Basic features
  • Free title page and bibliography
  • Unlimited revisions
  • Plagiarism-free guarantee
  • Money-back guarantee
  • 24/7 support
On-demand options
  • Writer’s samples
  • Part-by-part delivery
  • Overnight delivery
  • Copies of used sources
  • Expert Proofreading
Paper format
  • 275 words per page
  • 12 pt Arial/Times New Roman
  • Double line spacing
  • Any citation style (APA, MLA, Chicago/Turabian, Harvard)

Our guarantees

Delivering a high-quality product at a reasonable price is not enough anymore.
That’s why we have developed 5 beneficial guarantees that will make your experience with our service enjoyable, easy, and safe.

Money-back guarantee

You have to be 100% sure of the quality of your product to give a money-back guarantee. This describes us perfectly. Make sure that this guarantee is totally transparent.

Read more

Zero-plagiarism guarantee

Each paper is composed from scratch, according to your instructions. It is then checked by our plagiarism-detection software. There is no gap where plagiarism could squeeze in.

Read more

Free-revision policy

Thanks to our free revisions, there is no way for you to be unsatisfied. We will work on your paper until you are completely happy with the result.

Read more

Privacy policy

Your email is safe, as we store it according to international data protection rules. Your bank details are secure, as we use only reliable payment systems.

Read more

Fair-cooperation guarantee

By sending us your money, you buy the service we provide. Check out our terms and conditions if you prefer business talks to be laid out in official language.

Read more
error: Content is protected !!
Live Chat+1(978) 822-0999EmailWhatsApp

Order your essay today and save 20% with the discount code LEMONADE