Please read article and answer all questions Read the follow

Please read article and answer all questions

Read the following research article to learn about the test used for CF genotyping, then answer the questions below.
Strom et al. 2006. “Technical Validation of a Tm Biosciences Luminex-Based Multiplex Assay for Detecting the
American College of Medical Genetics Recommended Cystic Fibrosis Mutation Panel.” Journal of Molecular
Diagnostics 8: 371-375.
1. How many diff erent mutations had been found in the CFTR gene when this article was written?
2. How many of these CFTR mutations can be detected by the Tag-It CFTR 40 + 4 Luminex-based reagent system
from Tm Biosciences?
3. What criteria did researchers use when determining which mutations to include in the Tag-It test?
4. What is the chance that Sarah is actually a carrier for a CFTR mutation, even though her Tag-It test results
came back negative?
5. As the genetic counselor, explain to Sarah and Michael why you said “not exactly” when Sarah asked if it was
safe to conceive a child.

Solution

Q.No 1

23 mutations and 5 polymorphism found in CFTR gene

Q.No 2

25 mutations are detected by the Tag-It CFTR 40 + 4 Luminex-based reagent system

Q.No 3

TagIt CFTR 40 + 4 Luminex-based reagent from Tm Biosciences, and current assay platform, CF Genotyper V. 3.0 from Abbott/Celera are used to detect mutaions.

Q.No 4

There is a 50% chance that the baby will be a carrier. 25% chance that the baby is going to be normal. Then there is a 25% chance that the baby will have CF.

Q.No 5

There are more mutations on the gene than you were screened for. We didn\'t test the ones that are so rare, because the possibility of you having them is very low. There is a chance that you could be a carrier, but it is very unlikely. So there is a chance that your child have CF because Michael is a carrier and we aren\'t for sure you are not a carrier, but it is not very likely that your child will have CF. If I was in this situation, I would chose to adopt a child. The reason is there is a risk of having a baby with CF and I would not want to take that small chance. It seems to me that Sarah and Michael really want to have a child of theri own. So, if I was them I would choose to get pregnant and continue with the pregnancy no matter what. Since there is not really a huge chance of their child getting CF then I would go ahead and see what the outcome would be when having the child.