IB Biology: Genetics Review (3.1-3.

3) NAME:
1. Define the following vocabulary terms:

Gene

Gene Locus

Allele

Genome

Mutation

2. Outline the difference between two alleles of the same gene.

3. Outline what was accomplished by the Human Genome Project.

4. Transcribe and translate the two versions of the same section of the Hemoglobin gene (the left version is the normal
allele, the right version is mutated allele). Remember the antisense strand of the DNA is the one that is transcribed:

mRNA

Amino Acid
5. Distinguish between the two DNA strands above in terms of:
a. DNA base sequence:

b. Amino acid sequence in the resulting polypeptide:

c. State the disease that is caused by the mutated sequence of the Hemoglobin gene shown above.

6. Compare the following types of base-substitution mutations (aka ‘point’ mutations):

Silent mutation Missense mutation Nonsense mutation

Effect on Stop codon produced early –
Polypeptide polypeptide shortened
7. Compare the chromosome structure in eukaryotes and in prokaryotes:

8. Outline the structure and function of plasmids.

9. State the name of the biochemist who developed the autoradiography method for visualizing DNA molecules:
10. Define the following vocabulary terms:

Homologous
Chromosome
s
Haploid

Diploid

Autosomes

Sex
Chromosome
s
11. State the number of chromosomes in a human diploid cell: _______ and in a haploid cell: ________
12. Identify structures a. and b. on the drawing of a duplicated chromosome shown to the right:
a. ___________________________________

b. ___________________________________
13. Describe how a karyotype is assembled, including methods for obtaining fetal cells:

14. Analyze the karyogram shown to the right:

Sex: _______________

Abnormality: _____________________

15. State the function of Meiosis.

16. Add chromosomes and annotate the diagram below summarizing the steps in meiosis. Identify the stage where
crossing over occurs and where the random alignment of homologous chromosomes occurs.
17. Compare mitosis and meiosis in human cells:

Mitosis Meiosis
Number of
divisions
Number of
daughter cells
Chromosome
number in
daughter cells
Function of cells

18. Describe what occurs in non-disjunction in meiosis and what the effects can be.