Dominant and Recessive Pattern Of Osteogenesis Imperfecta

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

Calculate the price
Make an order in advance and get the best price
Pages (550 words)
*Price with a welcome 15% discount applied.
Pro tip: If you want to save more money and pay the lowest price, you need to set a more extended deadline.
We know how difficult it is to be a student these days. That's why our prices are one of the most affordable on the market, and there are no hidden fees.

Instead, we offer bonuses, discounts, and free services to make your experience outstanding.
How it works
Receive a 100% original paper that will pass Turnitin from a top essay writing service
step 1
Upload your instructions
Fill out the order form and provide paper details. You can even attach screenshots or add additional instructions later. If something is not clear or missing, the writer will contact you for clarification.
Pro service tips
How to get the most out of your experience with MyHomeworkGeeks
One writer throughout the entire course
If you like the writer, you can hire them again. Just copy & paste their ID on the order form ("Preferred Writer's ID" field). This way, your vocabulary will be uniform, and the writer will be aware of your needs.
The same paper from different writers
You can order essay or any other work from two different writers to choose the best one or give another version to a friend. This can be done through the add-on "Same paper from another writer."
Copy of sources used by the writer
Our college essay writers work with ScienceDirect and other databases. They can send you articles or materials used in PDF or through screenshots. Just tick the "Copy of sources" field on the order form.
See why 20k+ students have chosen us as their sole writing assistance provider
Check out the latest reviews and opinions submitted by real customers worldwide and make an informed decision.
I just need some minor alterations. Thanks.
Customer 452547, February 10th, 2021
Business Studies
Thank you very much for a good job done and a quick turn around time.
Customer 452615, March 31st, 2021
Business and administrative studies
Excellent job
Customer 452773, March 9th, 2023
Thank you!
Customer 452545, February 6th, 2021
Thank youuuu
Customer 452729, May 30th, 2021
thank you so much
Customer 452749, June 10th, 2021
Social Work and Human Services
Great work I would love to continue working with this writer thought out the 11 week course.
Customer 452667, May 30th, 2021
Impressive writing
Customer 452547, February 6th, 2021
Great job
Customer 452773, February 13th, 2023
Criminal Justice
The paper was not accused of plagiarism and was written very well. I will let you know the grade once it is graded. Thank you
Customer 452671, April 26th, 2021
Customer 452591, March 18th, 2021
English 101
IThank you
Customer 452631, April 6th, 2021
Customer reviews in total
Current satisfaction rate
3 pages
Average paper length
Customers referred by a friend
15% OFF your first order
Use a coupon FIRST15 and enjoy expert help with any task at the most affordable price.
Claim my 15% OFF Order in Chat

Sometimes it is hard to do all the work on your own

Let us help you get a good grade on your paper. Get professional help and free up your time for more important courses. Let us handle your;

  • Dissertations and Thesis
  • Essays
  • All Assignments

  • Research papers
  • Terms Papers
  • Online Classes