Question

Cystic Fibrosis (CF)

A 2-year old female patient whose parents have brought her to the hospital because she has a persistent cough and wheezing, and also appears to be underweight despite having a good appetite. The doctor ordered a sweat test, and the excessive amount of salt in the patient's sweat revealed that she likely has cystic fibrosis (CF).

1. What gene is mutated in CF and where in the genome is the gene located?
2. Name the protein that is impacted by this gene mutation and what cellular effects result from this alteration?
3. Is CF inherited recessively or dominantly?
4. Why is an excessive amount of salt in the patient’s sweat an indication of CF?

Answer 1

1.Cystic fibrosis occur as a result of change in mutation ,in gene CFTR .(Cystic Fibrosis Transmembrane regulator.)

CFTR located in the long arm of chromosome 7 at position 31.2,it is comprised of 27 exons that encodes genetic sequence.

2.Cystic fibrosis is caused by mutation in gene called CFTR,that produce cystic fibrosis transmembrane conductance regulator protein.

This protein functions for the regulation of salt and fluid flow in and out to the cell of different parts of the body.

CFTR gene contains the instructions for making CFTR protein .The alteration in protein leads to the improper functioning of protein ,and produce thick mucus and salty sweat.

3.Cystic Fibrosis is an autosomal recessive disorder ,it is not inherited completely from the parents as in sex linked disorder.

4.In people with Cystic Fibrosis, the sweat is very salty .The salt and fluid secreted by sweat glands, which reassured by sweat duct.In cystic fibrosis the reabsorption is altered .In this the salt cannot move across the cell that lined the sweat duct.The sodium and chloride moves together as one molecule and excreted in the sweat.This leads to salty sweat in persons with cystic fibrosis .

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