Busy. Please wait.

show password
Forgot Password?

Don't have an account?  Sign up 

Username is available taken
show password


Make sure to remember your password. If you forget it there is no way for StudyStack to send you a reset link. You would need to create a new account.
We do not share your email address with others. It is only used to allow you to reset your password. For details read our Privacy Policy and Terms of Service.

Already a StudyStack user? Log In

Reset Password
Enter the associated with your account, and we'll email you a link to reset your password.
Don't know
remaining cards
To flip the current card, click it or press the Spacebar key.  To move the current card to one of the three colored boxes, click on the box.  You may also press the UP ARROW key to move the card to the "Know" box, the DOWN ARROW key to move the card to the "Don't know" box, or the RIGHT ARROW key to move the card to the Remaining box.  You may also click on the card displayed in any of the three boxes to bring that card back to the center.

Pass complete!

"Know" box contains:
Time elapsed:
restart all cards
Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page.

  Normal Size     Small Size show me how


Molecular and biochemical basis of disease

Molecular Disease does what to DNA? Mutation in DNA that alters function in protein.
What are the 4 different effects on proteins that cause mutations? 1. Loss of function // 2. Gain of function // 3. Gain of novel property by mutant protein // 4. Expression of gene at: wrong location and/or wrong time
Types of mutation Insertions/ Deletions/ Rearrangements/ Nucleotide substitutions/ are what type of effects on proteins? Loss of Function
What disease is an example of loss of function due to a deletion? Alpha-Thalassemias
What disorders are m/c single gene disorders in humans? Disorders in Hemoglobins
What is the most common human gene disorders? Thalassemia
Of Thalassemia disorders what is the most common form? Alpha-Thalassemia
Heterozygote Sickle Cell Hemoglobin (HbS) is clinically normal unless subjected to what? Low oxygen pressure (flying high altitudes with low cabin pressure) causes RBC to become sickle shape and stick together not allowing flow through capillaries.
Allelic Heterogeneity More than one allele causes disease
Locus Heterogeneity More than one locus (gene) causes disease.
Phenotypic Heterogeneity Affects each person differently. // Different mutations in same gere cause completely different phenotypes. // Ex Receptor Tyrosine Kinase (RET)
Sickle cell would be an allelic heterogeneity? true or false? False: Sickle cell only has one allele change.
What would be an example of Defects in Receptor Proteins-cell membrane location? Familial Hypercholesterolemia
Familial Hypercholesterolemia: Homozygous affected risk? // Heterozygous affected risk? // Mode of Inheritance? // Does allelic heterogeneity exist with this disease? Homo = 100% affected // Hete = 50% affected // Autosomal Dominant // Yes allelic heterogeneity exist b/c more than one allele causes the same disease
Give Example of Transport Defect Disease. Cystic Fibrosis: Autosomal recessive /// Salty baby b/c chloride channel in epithelial cells // lung mucus problem b/c of this and increased risk of infections // Avg Age Death 33
What disease is a Structural Protein Disorder? Duchenne Muscular Dystrophies: X-Linked // Death 20 yrs old //
What disease is caused by an Expansion of Unstable Repeat Sequences? Most are Neurological // Huntington's Disease: Autosomal Dominant // Novel property mutants is a new function of protein that damage neurons. //
Created by: cmuox2000