Assignment 1

Follow the guidelines in the ALS assignment in the PedigreeLab Assignment 1 to help you identify the location and approximate locus for each of the following mutations: Huntington's disease (HD), Duchenne muscular dystrophy (DMD), Werner's syndrome (WRN), Cystic fibrosis (CF), Two additional mutations of your choice.


1 .		For each mutation, perform the following: Study several Full Pedigrees, then develop a hypothesis to explain the mode of inheritance for the mutation.

2 .		For each mutation, perform the following: Use the Large Family pedigree function to identify pedigrees with parents that will produce offspring that you can use to look for recombination. Think carefully about the mode of inheritance for the trait, then decide whether to answer yes or no to the three questions that ask you to define whether the trait is expressed in grandparents, parents, and offspring before searching the Large Family database.

3 .		Print your recombination data for any probes that you used to search for linkage.

4 .		Once you have found the chromosomal location for the mutation, be sure to test all of the other probes on that chromosome that are linked to the mutation so you can better refine and pinpoint the location of the trait relative to the markers on the chromosome. Your goal is to develop as accurate a map as you can. Print your chromosome map when you are done.