Study Guide-Exam III

The final exam (Exam III) will be cumulative, but will emphasize the last third of the
course. Read the assigned material, review lecture notes and your previous exams, review
the homework problems/answers, go to help sessions, and look at relevant course web site
information and videos. Exam III will consist of three parts [i.e., I. General genetics
knowledge (~20 points), II. Multiple choice (~20 points), and III. Short answer and/or
genetics problems identical or similar to the assigned homework problems and previous
exam questions (~60 points)].
You should know the following information for the third exam.

The material covered on Exams I and II, such that you could correctly answer these same
questions or variations of these questions when they appear on Exam III.
Definitions for genomics, proteomics and bioinformatics
The two approaches taken for sequencing the human genome
Microarray experiments (how they are done and what they mean)
Yeast two hybrid experiments (how they are done and what they mean)
The different types of transposable elements (IS, Composite Tn, Simple Tn, Retroposons,
DNA TEs such as Ac/Ds and the P element, LINES and SINES) and how they move
The two reasons why most transposable elements dont move in humans
Define the following mutations: synonymous, missense, nonsense, insertions, deletions
Consequences of the above mutations on mRNA and protein products
Name one chemical mutagen and its mode of action
Ames test (how it is done and what it is used for)
Name and briefly explain the various repair mechanisms used to fix mutations
Define euploid, polyploid, autopolyploid, allopolyploid, colchicine, aneuploid, acentric
Explain the chromosomal abnormality in Downs Syndrome and how it comes about
Recognize and define the following changes to chromosomal structure: deletions,
duplications, inversions (paracentric and pericentric) and reciprocal translocations
Explain how cancer can arise following a chromosomal mutation
Describe several ways by which genetic variation detected
DefineanddescribehalotypesandtheHapMapproject
DefinegenepoolandtheHardyWeinberglaw;beabletosolvesimpleHWproblems
KnowtheconditionsrequiredfortheHardyWeinberglawtobevalid
Namethreesourcesofmatingdeviationsandthreesourcesofvariation
Nametwoforcesthatcontrolthefateofsuchvariation
DefineanddescribequantitativegeneticsandQTLs
Thetwosourcesofvariancerelatingtocomplextraits
Defineanddistinguishbroadsenseheritability(H2)fromnarrowsenseheritability(h2)
ExplainthepurposeofQTLmappingandassociationmapping
Darwins Theory of Evolution by Natural Selection
The Neutral Theory of Molecular Evolution
Understand how gene families come about and the 3 possible fates of duplicated genes
Be able to relate the evolution of cis-regulatory sequences to the evolution of
morphological traits and the expression of toolkit genes that control development
1

Describe one thing you learned from Dr. Ballards presentations/lectures