Review for final exam

Know what the following terms mean:

•        Incomplete dominance

•        Codominance

•        Multiple alleles

•        ABO blood group antigens

•        Autosomal recessive (what are some examples)

•        Autosomal dominant (what are some examples)

•        X-linked inheritance

•        Polygenic

•        Gene interactions

•        Epistasis

•        Pleiotropy

•        Sex-limited Phenotypes

•        Sex-influenced Phenotypes

•        Penetrance and Expressivity

•        Imprinting

•        Phenotype

•        Genotype

•        Punnett square

•        incomplete dominance

•        homozygous

•        heterozygous

•        multiple alleles

•        blood type antigens

•        pedigree

•        karyotype

Crosses for X-linked inheritance and blood type antigens

Know how to do a dihybrid cross and a dihybrid cross with different inheritance patterns

(for example, recessive trait and codominance)

            When would you get a 1:2:1 ratio in the offspring?

            When would you get a 9:3:3:1 ratio in the offspring?

You do not need to know how to do the trihybrid crosses.

Probability problems

How are different diseases, traits inherited?

            Color blindness

            Tay-Sachs

            Huntington’s disease

            Fragile-X

            Sickle Cell Anemia

            Cystic Fibrosis

Diseases due to imprinting:  Prader Willi and Angelman Syndrome

Chi square test – you will not have to do a problem but you must be able to answer the following question:  Inorder to reject the null hypothesis and say that something is statistically significant, what must the p value be?

How does a pedigree from autosomal recessive and autosomal dominant traits differ?  How are they different from X-linked?  What percentage male and female do you expect to see with the different modes of inheritance?

Trinucleotide repeat diseases, anticipation

There will not be any questions on the model organisms.

Know which diseases results from which chromosomal abnormalities.

No questions on dosage compensation, Barr bodies or X-inactivation.

What is the difference between aneuploidy (monosomy, trisomy, tetrasomy) and euploidy (diploidy, triploidy,  tetraploidy)?

Be able to determine the number of chromosomes of each

Changes in the structure and arrangement of chromosomes

How can radioactive labels be used to study DNA, RNA and proteins?

            DNA and RNA can be labeled with ³²P and proteins can be labeled with ³⁵S

Know how to calculate the concentration of DNA.

Know the main points of the following techniques:

electrophoresis, FISH, DNA microarrays, Southern Blot

and PCR

DNA structure

            What makes up a nucleotide?

            What is at the 1’, 2’, 3’, and 5’ positions?

            How do nucleotides bind together?

            How do the different chains of DNA bind together?

You do not need to know how to draw the different bases but you should know which ones have 1 ring and which have 2 rings.

How do purines bind to the sugar?  How do pyrimidines bind to the sugar?

How many hydrogen bonds form between the bases?

What are differences between RNA and DNA?

Comparison between replication, transcription and translation in prokaryotes and eukaryotes – many questions

Mutations –

•        Point mutation

•        Missense mutation

•        Nonsense mutation

•        Silent mutations

•        Transition

•        Transversion

•        Frameshift mutations