CYSTIC FIBROSIS TEST 3 QUESTIONS
WITH 100% CORRECT ANSWERS!!
Cystic Fibrosis is a multisystem disease affecting the...
- digestive system
- sweat glands
- reproductive tract
______ continues to be the major cause of morbidity and mortality
Progressive lung disease
Autosomal _______ exocrinopathy affecting multiple epithelial tissues
recessive
Effects _______ cells in multiple organ systems
epithelial
Patients with CF have abnormal transport of ______ and ______ across the respiratory
epithelium, resulting in thickened, viscous airway secretions
chloride and sodium
HIGHLY variable time course ranging from months to decades after birth
Individuals eventually develop chronic infections of the respiratory tract with a characteristic
array of bacterial flora, leading to progressive respiratory insufficiency and eventual respiratory
failure
CF is caused by mutations in a SINGLE large gene on chromosome __ that encodes the
cystic fibrosis transmembrane conductance regulator (CFTR) protein
7
The normal CFTR functions as a regulated ______ channel, which, in turn, may regulate
the activity of other chloride and sodium channels at the cell surface
, chloride
The Cystic Fibrosis Mutation database lists more than ____ different mutations in the
CFTR gene with potential to cause disease
1900
The most common mutation is ________ (deletion of three DNA bases coding for the 508th
amino acid residue phenylalanine), which is found in approximately 70% of Caucasian
patients with CF in the United States.
delta F508
Class II
Certain mutations are found at higher frequency in some ethnic groups because of
apparent founder effects
As an example of founder effects, ____ mutations account for an estimated 97 percent of
CF alleles in the Ashkenazi Jewish population
5
In general, mutations in classes I to III cause ____ (more/less) severe disease than those in
classes IV and V
more
The clinical implications of a specific combination of mutations are often unclear, perhaps
because of the influence of gene modifiers.
Specific mutations ______ (should/shouldn't) be used to make assumptions about the
severity of disease in an individual patient.
Should NOT
Truly Variable!
Class I mutations: Defective protein ______
WITH 100% CORRECT ANSWERS!!
Cystic Fibrosis is a multisystem disease affecting the...
- digestive system
- sweat glands
- reproductive tract
______ continues to be the major cause of morbidity and mortality
Progressive lung disease
Autosomal _______ exocrinopathy affecting multiple epithelial tissues
recessive
Effects _______ cells in multiple organ systems
epithelial
Patients with CF have abnormal transport of ______ and ______ across the respiratory
epithelium, resulting in thickened, viscous airway secretions
chloride and sodium
HIGHLY variable time course ranging from months to decades after birth
Individuals eventually develop chronic infections of the respiratory tract with a characteristic
array of bacterial flora, leading to progressive respiratory insufficiency and eventual respiratory
failure
CF is caused by mutations in a SINGLE large gene on chromosome __ that encodes the
cystic fibrosis transmembrane conductance regulator (CFTR) protein
7
The normal CFTR functions as a regulated ______ channel, which, in turn, may regulate
the activity of other chloride and sodium channels at the cell surface
, chloride
The Cystic Fibrosis Mutation database lists more than ____ different mutations in the
CFTR gene with potential to cause disease
1900
The most common mutation is ________ (deletion of three DNA bases coding for the 508th
amino acid residue phenylalanine), which is found in approximately 70% of Caucasian
patients with CF in the United States.
delta F508
Class II
Certain mutations are found at higher frequency in some ethnic groups because of
apparent founder effects
As an example of founder effects, ____ mutations account for an estimated 97 percent of
CF alleles in the Ashkenazi Jewish population
5
In general, mutations in classes I to III cause ____ (more/less) severe disease than those in
classes IV and V
more
The clinical implications of a specific combination of mutations are often unclear, perhaps
because of the influence of gene modifiers.
Specific mutations ______ (should/shouldn't) be used to make assumptions about the
severity of disease in an individual patient.
Should NOT
Truly Variable!
Class I mutations: Defective protein ______
