Please if attempted answer all the questions not just one I

Please if attempted answer all the questions, not just one I need all to be answered

Part IV – The Test Sarah and Michael looked confused. “But….” Michael started to say. “How can the test say I’m not a carrier, but you say that I could still be a carrier?” Sarah finished. Th e-counselor pursed her lips and said, “Well, because of cost, no test is as comprehensive as we would like. Th is research article describes the genetic test used to determine your CF genotypes and explains its limitations,” she continued, handing them a printed article.

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. 10. How many had diff erent mutations been found in the CFTR gene when this article was written?

11. How many of these CFTR mutations can be detected by the Tag-It CFTR 40 + 4 Luminex-based reagent system from Tm Biosciences?

12. What criteria did researchers use when determining which mutations to include in the Tag-It test?

13. What is the chance that Sarah is actually a carrier for a CFTR mutation, even though her Tag-It test results came back negative?

14. 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

10. three types of muation has been found in CFTR gene

11. 33 mutations of CFTR can be detected by the Tag-It CFTR 40+4 Luminex based reagent system from Tm Biosciences.

12 Wild type and Mutant type allele used for Tag-It test

13.

i. 25 per cent ( 1 in 4) the child will have CF

ii. 50 per cent ( 1 in 2) the child will be a carrier but will not have CF

iii. 25 per cent (1 in 4) the child will not be a carrier of the gene and will not have CF

14. If no carrier of CF it will be safe for a child