Molecular and biochemical basis of disease
Quiz yourself by thinking what should be in
each of the black spaces below before clicking
on it to display the answer.
Help
|
|
||||
|---|---|---|---|---|---|
| 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. // |
Embed Code: If you would like this activity on your web page,
copy the script below and paste it into your web page.
show me how
Created by:
cmuox2000
on 2011-10-22