Cystic fibrosis case study essay

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Published: 09.01.2020 | Words: 1497 | Views: 311
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Seek advice from your textbook and trustworthy Internet sites to answer the following questions: 1 . Which in turn organs are influenced by cystic fibrosis? What are the condition symptoms? Organs that are affected by cystic fibrosis include the lung area, pancreas, hard working liver, sweat glands, reproductive organs, nose and sinuses. The symptoms of cystic fibrosis contain coughing with mucus approaching, wheezing, breathlessness, decrease in ability to exercise, lung infections, inflamed nasal passages, stuffy nose, bad expansion, intestinal congestion, severe obstipation and fried foul smelling stool.

2 . Draw a pedigree displaying the family history and ancestors for VOIR in Sarah’s and Michael’s families.

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Make sure you distinguish between individuals with the disease, those that are carriers for the condition, and people who do not possess a duplicate of the disease allele. Sarah’s FamilyMichael’s Relatives

Part II Questions: Punnett Squares

3. Construct a Punnett rectangular to demonstrate how come Sarah figured she and Michael cannot have an influenced child (assuming that she does not carry a CF mutation).

Since Debbie jumped for the conclusion that she did not carry any recessive alleles for CF she thought that all her and Michael’s baby wouldn’t have CF. Thus when you mix what the lady thought she had CC with Michael’s carrier genotype Cc you will find a baby which has a 50% potential for being regular and 50% of being a carrier, but will not have VOIR. The cross between Cc x CLOSED CIRCUIT is proven below.

4. If Dorothy were a carrier, what could be the chance that she and Michael may have an damaged child? Show the Punnett sq .. There is a 50% chance the baby might be a carrier. 25% chance the baby is going to be normal. After that there is a 25% chance which the baby will have CF.

Component III Concerns: CFTR Variations

5. Appearance closely on the section on “Allelic Versions.  Is the delta-F508 mutation the only regarded alteration with the CFTR gene? No delta-F508 mutation is only one of many change of the CFTR gene. One example is other alterations are 6th. As you glance at the list of Allelic Variants (starting with. 001), how does the data in mounting brackets (e. g., [CFTR, PHE508DEL]) describe every single mutation? These details describes what amino acid is located where the mutation was located.

In this case the amino acid can be phenylalanine. It tells us the codon the place that the mutation happened. In this model the changement is at codon 508. This info also explains to up which kind of mutation came about. In this case it had been a removal mutation. several. The CFTR gene is made up of how many exons? Just how many introns? Sketch a rough plan of the exon/intron structure in the CFTR gene. There are 27 exons inside the CFTR gene. There are 26 introns in the CFTR gene. Here’s a draw of a tough diagram of the exon/intron structure of the CFTR gene. Green rectangles happen to be introns white are exons.

8. For every mutation (allelic variant) here, explain how a mutation could affect the creation of (1) the mRNA and (2) the proteins encoded bythe CFTR gene. As an example, the first circumstance is completed for you personally.


The 508th triplet codon, which normally rules for phenylalanine, is erased. Consequently, the CFTR mRNA is a few nucleotides short than regular, and the CFTR protein can be one protein shorter, absent its 508th unit.


There was a G to T enhancements made on nucleotide 1609 in exon ten. The result of this nucleotide change mutation was a untimely stop codon created in position 493.


A C to G enhancements made on the nucleotide sequence in the fourth exon caused the mutation. A result of this changement was a alter from an aspartic acid remains to a histidine one.


This mutation was from an insert of two nucleotides. FOR was put right after nucleotide 2566 on exon 13. This lead overall within a frame move mutation.

¢. 0008 CYSTIC FIBROSIS [CFTR, IVS10, G-A, -1]

This was a splice changement that improved nucleotide-1 in intron quantity ten from G into a. As a result a splice web page was demolished.

¢. 0064 CYSTIC FIBROSIS [CFTR, IVS12, G-A, +1]

A G to A move in nucleotides at the location 1 subscriber site brought on skipping over exon doze


This is certainly a large mutation. This veränderung deletes 21, 080 bp ranging from exon 1 to exon several. This triggered deletion of exon 2 and exon 3. This kind of large deletion also triggered a premature termination signal in exon 4. being unfaithful. Sarah considered how these different changement can cause a similar disease. Since the innate counselor, just how would you describe this to Sarah and Michael? All of these different changement can cause a similar disease since they all happen on the CFTR gene. Regardless if one alanine is altered on the CFTR there is going to be a possibility of cystic fibrosis occurring. Also different variations can cause several severities and traits of cystic fibrosis.

Portion IV: The Test

Read the next research document to learn regarding the test employed for CF genotyping, then response the questions below. Strom et ‘s. 2006. “Technical Validation of a Tm Biosciences Luminex-Based Multiplex Assay to get Detecting the American School of Medical Genetics Advised Cystic Fibrosis Mutation -panel.  Log of Molecular Diagnostics 8: 371-375. 15. How various mutations was found in the CFTR gene when this information was written? There have been over 1400 mutations found in the CFTR gene when this post was created. 11. How many of these CFTR mutations may be detected by Tag-It CFTR 40 & 4 Luminex-based reagent program from Tm Biosciences? 45 mutations and 4 polymorphisms can be detected by the Tag-It 40+4 Luminex-based reagent program. There were two mutations that have been removed from the 25 veränderung original -panel though; I148T and also 1078delT.

There are forty five mutations that could be detected with this test, nevertheless two were removed because one of the changement was chosen to be a polymorphism and the additional was also rare to evaluate for. 12. What standards did experts use when ever determining which in turn mutations within the Tag-It test? Researchers used a Luminex bead system which develops reagents for multiplex molecular analyze. By using this bead system, the researchers could actually tell that this analysis demonstrated that it detected the 25 mutations within the original reagent. These twenty-five mutations had been then looked over by experts. Two of the mutations were decided to end up being thrown off the original list.

The reason was one of the mutations turned out to be a polymorphism as well as the other mutation was therefore rare the fact that researchers decided to throw it. Then 12-15 of the changement are considered to be supplementary variations. This means that they might be tested pertaining to by the Tag-It 40 & 4 check but , usually are on the ACMG screening panel. So there are a total of 23 mutations on the revised Tag-It 40+4 carrier evaluation. 13. Precisely what is the chance that Sarah is really a carrier for a CFTR changement, even though her Tag-It evaluation results came back negative? We have a chance that Sarah is actually a carrier for the CFTR changement, but most unlikely. The chances will be small that Sarah is actually a carrier to get a CFTR changement.

14. While the genetic counselor, show Sarah and Michael for what reason you said “notexactly when ever Sarah asked if it was safe to conceive a child. There are more changement on the gene than you had been screened pertaining to. We did not test the ones that are so exceptional, because the probability of you having them is very low. There is a opportunity that you could become a carrier, nonetheless it is very unlikely. So there exists a chance that your child could have CF because Michael is actually a carrier and that we aren’t for certain you’re not a carrier, but it isn’t very likely that your child will have CF. twenty two. (Zack)

Easily was in this case, I would made a decision to adopt a kid. The reason is there is a risk of having a baby with VOIR, and I more than likely want to take that small possibility. 22. (Krickett) It seems to me that Dorothy and Michael jordan really want to have got a child that belongs to them. So , merely was them I would choose to be pregnant and continue together with the pregnancy whatever. Since there isn’t really a enormous chance of the youngster getting VOIR then I would go ahead and find out what the end result would be once having the kid.