Presentation about G551D Variant
What variant class does
G551D specific variant belong to? you should research to
determine which class your variant belongs to.
You should describe the specific
problem with your variant on your poster and in your presentation.Now, go to the website at
https://cftr2.org/The goal is to research
three possible combinations:
1. Your variant alone
2. Your variant in both positions (located on
both chromosomes).
3. Your variant in combination with variant
F508del.Each of these will need to be run separately in the database and
different information may be examined for each combination. You should report
on each of these situations in your poster
Suggested Power point slide
content:
Slide:
CF Variant
Information: General background about CF mutations followed by the
information
you have researched about your specific variant and the implications of
the
different allele combinations that you researched.
What class does your
variant fall into? What is the problem that puts this variant
into this class? What are the most common clinical manifestations for
this
variant? What is the percentage of the population with CF carry this
variant and
this variant in combination with variant F508del?
Is it
possible to screen people for the presence of this variant? The following web sites
contain information about testing that can be done for CFTR variants.https://www.acog.org/Patients/FAQs/Cystic-Fibrosis-Prenatal-Screening-and-Diagnosis#amhttps://ltd.aruplab.com/Tests/Pdf/182https://www.labcorp.com/test-menu/23686/cystic-fibrosis-cf-profile-32-mutations-fetal-analysisNotes: the variant mutation
is G551D cause CF1. You can use other web sites.2. Make citation to the work3. Two images to the slide should include one explain the function of
the cell will effect by this variant (G551d) other image about descriptions of
class III.4. I have the flexibility to
add or delete any information in that report.
Requirements:
