ALS311 – Homework Module 2:

Due date: November 11.

You should do this exercise in pairs. Please type all your answers and upload the file to your dropbox in sakai. Even though you should work in pairs, each student should submit their answers to sakai. Please follow the word limits for each question – note that this is the maximum word limit. You should be brief and your answer can have fewer words.

Names: Nitesh Singhvi and Keshav Sharma

Questions:
1. Why are evolutionarily conserved sites more likely to be involved in disease than non-conserved sites? (100 words)
a) Conserved sites usually are the sites of important position. They code for certain important protein sequence. Thus any mutations in such sequences are likely cause for a disease and thus more involved.

2. Why did the researchers that identified the gene for Miller syndrome had to compare the variations they found in the affected individuals to that in the dbSNP and HapMap databases? (100 words)
a) dbSNP and Hap Map are databases which accounts for all possible neutral and disease causing polymorphisms. Thus they compared the sequence to check for any known mutation and its severity. 3. What is the difference between paralogs and orthologs? (100 words)
a) Orthologs are homologs of a particular gene resulting due to a speciation event and paralogs are a result of gene duplication event. Orthologs generally have similar functional nature unlike the paralogs. Orthologus homology is between different species and paralogs are for the same species.

4. Assume that a new disease is discovered that affects one in ten thousand people. A test is devised for this specific condition. The test is very good but unfortunately still has a false negative rate of 1% (1% of affected individuals test negative) and a false positive rate of 1% (1 out of 100 healthy persons that take the test will