PART B: Case Study 1: Ben is the 2nd child born to Mr& Mrs R. Their first child,

Question

PART B: Case Study 1: Ben is the 2nd child born to Mr& Mrs R. Their first child, age 5 is healthier. Ben is giving harder time to his parents. From the start, he constantly has cold and cough. At 6 months of his age, he was admitted with chest infection. At the hospital admission, the nurse was noted that Ben's bowl motion was very bulky and height and weight were very low. Doctors suspected Ben might have Cystic Fibrosis (CF) and it was confirmed by sweat test Q1) What is CF? Q2) Explain a technique that is suitable to identify gene mutation? Q3) Modern gene therapy suggested a best solution for patients suffering with CF. One of their explanation is by adding a normal copy of a gene and that may fix the problem. A) Do you think it is possible? B) Explain a technique that scientist can use to add normal CFTR gene into affected tissues? C) A possible technique was planned and initiated in 1993. After several attempts in 1998 scientist have worked on a best vector that can cause no immune response however the outcome was not satisfied. The normal CFTR gene expression was lower than expected. What could be a possible reason for this failure?

Explanation / Answer

1. CF or cyctic fibrosis may be define as the autosomal recessive genetic disorder which is occurs due to the mutation in CFTR gene. It is characterised by the thick mucus formation which then clogs the respiratory ,GI tract,

2. In CF the  mutations occur in cystic fibrosis transmembrane conductance regulatorgene (CFTR) on chromosome 7q31.For the analysis of the mutated gene tecniques  including molecular diagnosis ofcystic fibrosis (CF), prenatal diagnosis, and carrier testing.

Related Questions

Navigate

• Browse (All)
• Browse P
• Subjects

---

---

Integrity-first tutoring: explanations and feedback only — we do not complete graded work. Learn more.