QUESTION NO. 1 Cystic fibrosis is a frequent generic disease of Caucasians. The CF gene codes for a protein called the cystic fibrosis transmembrane conductance regulator (CFTR) which functions as a cAMP-regulated chloride channel. The protein has two membrane-spanning domains, two domains that interact with ATP, and one regulatory domain. The most common defect is in the gene for one of the ATP binding domains. The result is a protein that does not fold correctly in the endoplasmic reticulum, is not properly glycosylated, and is nor transported to the cell surface. Rather, it is degraded in the cytosol within proteasomes. Drugs that foster chaperone interaction with the mutant protein are a potential therapeutic approach. Chaperones A. are always required to direct the folding of proteins. B. when bound to protein increase the rate of protein degradation. C. usually bind to strongly hydrophilic regions of unfolded proteins. D. sometimes maintain proteins in an unfolded state to allow passage through membranes. E. foster aggregation of proteins into plaques. QUESTION NO. 2 Fragile X syndrome is a common form of inherited mental retardation. The mutation in the disease allows the increase of a CGG repeat in a particular gene from a normal of about 30 repeats to 200-1000 repeats. This repeat is normally found in the 5' untranslated region of a gene for the protein FMR1. FMR1 might be involved in the translation of brain-specific mRNAs during brain development. The consequence of the very large number of CGG repeats in the DNA is extensive methylation of the entire promoter region of the FMR1 gene. Methylation of bases in DNA usually A. facilitates the binding of transcription factors to the DNA. B. makes a difference in activity only if it occurs in an enhancer region. C. prevents chromatin from unwinding. D. inactivates DNA for transcription. E. results in increased production of the produce of whatever gene is methylated.
QUESTION NO. 1 Cystic fibrosis is a frequent generic disease of Caucasians. The CF gene codes for a protein called the cystic fibrosis transmembrane conductance regulator (CFTR) which functions as a cAMP-regulated chloride channel. The protein has two membrane-spanning domains, two domains that interact with ATP, and one regulatory domain. The most common defect is in the gene for one of the ATP binding domains. The result is a protein that does not fold correctly in the endoplasmic reticulum, is not properly glycosylated, and is nor transported to the cell surface. Rather, it is degraded in the cytosol within proteasomes. Drugs that foster chaperone interaction with the mutant protein are a potential therapeutic approach. Chaperones A. are always required to direct the folding of proteins. B. when bound to protein increase the rate of protein degradation. C. usually bind to strongly hydrophilic regions of unfolded proteins. D. sometimes maintain proteins in an unfolded state to allow passage through membranes. E. foster aggregation of proteins into plaques. QUESTION NO. 2 Fragile X syndrome is a common form of inherited mental retardation. The mutation in the disease allows the increase of a CGG repeat in a particular gene from a normal of about 30 repeats to 200-1000 repeats. This repeat is normally found in the 5' untranslated region of a gene for the protein FMR1. FMR1 might be involved in the translation of brain-specific mRNAs during brain development. The consequence of the very large number of CGG repeats in the DNA is extensive methylation of the entire promoter region of the FMR1 gene. Methylation of bases in DNA usually A. facilitates the binding of transcription factors to the DNA. B. makes a difference in activity only if it occurs in an enhancer region. C. prevents chromatin from unwinding. D. inactivates DNA for transcription. E. results in increased production of the produce of whatever gene is methylated.
Basic Clinical Laboratory Techniques 6E
6th Edition
ISBN:9781133893943
Author:ESTRIDGE
Publisher:ESTRIDGE
Chapter2: Basic Hematology
Section2.3: Microhematocrit
Problem 3.1CS
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QUESTION NO. 1
Cystic fibrosis is a frequent generic disease of Caucasians. The CF gene codes for a protein called the cystic fibrosis transmembrane conductance regulator (CFTR) which functions as a cAMP-regulated chloride channel. The protein has two membrane-spanning domains, two domains that interact with ATP, and one regulatory domain. The most common defect is in the gene for one of the ATP binding domains. The result is a protein that does not fold correctly in the endoplasmic reticulum, is not properly glycosylated, and is nor transported to the cell surface. Rather, it is degraded in the cytosol within proteasomes. Drugs that foster chaperone interaction with the mutant protein are a potential therapeutic approach. Chaperones
A. are always required to direct the folding of proteins.
B. when bound to protein increase the rate of protein degradation.
C. usually bind to strongly hydrophilic regions of unfolded proteins.
D. sometimes maintain proteins in an unfolded state to allow passage through membranes.
E. foster aggregation of proteins into plaques.
QUESTION NO. 2
QUESTION NO. 2
Fragile X syndrome is a common form of inherited mental retardation. The mutation in the disease allows the increase of a CGG repeat in a particular gene from a normal of about 30 repeats to 200-1000 repeats. This repeat is normally found in the 5' untranslated region of a gene for the protein FMR1. FMR1 might be involved in the translation of brain-specific mRNAs during brain development. The consequence of the very large number of CGG repeats in the DNA is extensive methylation of the entire promoter region of the FMR1 gene. Methylation of bases in DNA usually
A. facilitates the binding of transcription factors to the DNA.
B. makes a difference in activity only if it occurs in an enhancer region.
C. prevents chromatin from unwinding.
D. inactivates DNA for transcription.
E. results in increased production of the produce of whatever gene is methylated.
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