CYSTIC FIBROSIS FINAL EXAM
QUESTIONS WITH 100% CORRECT
ANSWERS!!
What is the most common life-shortening autosomal recessive disease among Caucasian
populations?
Cystic Fibrosis
What systems are affected by Cystic Fibrosis?
Multiple! mainly the lungs (RESPIRATORY) but include the digestive system, sweat
glands/exocrine system, and reproductive tract
What is the median predicted survival age for individuals with Cystic Fibrosis in the
United States?
61 years
Is CF caused my mutations in multiple or singular genes?
ONE LARGE SINGLE GENE
What chromosome is affected gene on in CF
Affects the gene on chromosome 7
What does the chromosome 7 gene for CF code?
The cystic fibrosis conductance regulator (CFTR) protein
What ion does the CFTR channel bring into lung airway
Chloride and water
when channel is defective, lack of Cl ions and water leads to mucus proteins becoming too sticky
- bacteria gets trapped
what locus
7q31
, What type of genetic inheritance pattern does Cystic Fibrosis follow?
Autosomal recessive inheritance.
CF affects what cells
epithelial in MULTIPLE ORGAN SYSTEMS
what does CFTR protein do
regulates volume and composition of exocrine secretions
How many different mutations are listed in the Cystic Fibrosis Mutation database?
1900 different mutations in the CFTR gene with potential to cause disease
What is the most common mutation in the CFTR gene associated with Cystic Fibrosis?
Delta F508, deletion of three DNA bases
What percentage of Caucasian patients with Cystic Fibrosis in the United States carry the
delta F508 mutation?
Approximately 70 percent.
What is the Founder Effect in genetics?
A phenomenon where a small group of individuals establishes a new population, leading to
reduced genetic variation.
Provide an example of the Founder Effect related to Cystic Fibrosis.
Five mutations account for an estimated 97 percent of CF alleles in the Ashkenazi Jewish
population.
How many classes of CFTR gene mutations are there?
Five classes. Mutation classes 1 to 5
Which classes of CFTR mutations generally cause more severe disease?
Classes I to III.
QUESTIONS WITH 100% CORRECT
ANSWERS!!
What is the most common life-shortening autosomal recessive disease among Caucasian
populations?
Cystic Fibrosis
What systems are affected by Cystic Fibrosis?
Multiple! mainly the lungs (RESPIRATORY) but include the digestive system, sweat
glands/exocrine system, and reproductive tract
What is the median predicted survival age for individuals with Cystic Fibrosis in the
United States?
61 years
Is CF caused my mutations in multiple or singular genes?
ONE LARGE SINGLE GENE
What chromosome is affected gene on in CF
Affects the gene on chromosome 7
What does the chromosome 7 gene for CF code?
The cystic fibrosis conductance regulator (CFTR) protein
What ion does the CFTR channel bring into lung airway
Chloride and water
when channel is defective, lack of Cl ions and water leads to mucus proteins becoming too sticky
- bacteria gets trapped
what locus
7q31
, What type of genetic inheritance pattern does Cystic Fibrosis follow?
Autosomal recessive inheritance.
CF affects what cells
epithelial in MULTIPLE ORGAN SYSTEMS
what does CFTR protein do
regulates volume and composition of exocrine secretions
How many different mutations are listed in the Cystic Fibrosis Mutation database?
1900 different mutations in the CFTR gene with potential to cause disease
What is the most common mutation in the CFTR gene associated with Cystic Fibrosis?
Delta F508, deletion of three DNA bases
What percentage of Caucasian patients with Cystic Fibrosis in the United States carry the
delta F508 mutation?
Approximately 70 percent.
What is the Founder Effect in genetics?
A phenomenon where a small group of individuals establishes a new population, leading to
reduced genetic variation.
Provide an example of the Founder Effect related to Cystic Fibrosis.
Five mutations account for an estimated 97 percent of CF alleles in the Ashkenazi Jewish
population.
How many classes of CFTR gene mutations are there?
Five classes. Mutation classes 1 to 5
Which classes of CFTR mutations generally cause more severe disease?
Classes I to III.
