Exam 1 Study Guide

1. Why is genetics important?

a. It is now an essential part of agriculture, pharmaceuticals, and human medicine.

b. Historically genetics allowed for the domestication of both plants and animals by the

selection of desirable traits.

c. The genome underlies all biological processes.

d. Genetics is a rapidly expanding field.

2. Define the following sub-disciplines in the field of genetics.

a. Transmission genetics - how genes recombine and traits are passed from generation to
generation

b. Molecular genetics - concerns the structure and function of genes, includes replication,
transcription, translation

c. Population genetics - studies heredity in groups for traits determined by few genes

d. Quantitative genetics - studies heredity in groups of individuals for traits determined by

many genes

3. Place the following events and people in order of occurrence:

1. Charles Darwin
2. Gregor Mendel
3. Discovery that genes are located on chromosomes
4. Population genetics started
5. Watson and Crick
6. Recombinant DNA experiments
 7. PCR invented
8. Gene therapy is used to treat human disease for the first time
9. Human genome sequence completed

4. State each of the following’s major contributions to the field of genetics.

a. Watson and Crick - DNA structured in double helix

b. Gregor Mendel - laws of inheritance

c. Charles Darwin - natural selection

5. Fill in the chart given there is 24 DNA molecules during metaphase of mitosis:

Stage DNA Molecules Chromosomes

G1 12 12

S 24 12

G2 24 12

Prophase 24 12

Metaphase 24 12

Anaphase 24 24

Telophase 24 24

Daughter Cells 12 12

Meiosis
Stage DNA Molecules Chromosomes

G1 12 12

S 24 12

G2 24 12
 Prophase 1 24 12

Metaphase 1 24 12

Anaphase 1 24 12

Telophase 1 24 12

Prophase 2 12 6

Metaphase 2 12 6

Anaphase 2 12 12

Telophase 2 12 12

Daughter Cells 6 6

6. Define each of the following.

a. Centromere - repetitive DNA that serves as the attachment point for spindle fibers during
cell division

b. Chromatids - strands of DNA held together by a centromere

c. Chromosome - linear DNA molecule complexed with histone protein

d. Diploid - situation in which individual has 2 copies of each chromosome with one copy
coming from each parent

e. Haploid - situation in which cell has 1 copy of each gene

f. Homologous chromosome - pair of similar chromosomes in a diploid organism

g. Telomere - repetitive DNA that serves as the cap on each end of a linear chromosome

7. Histones allow DNA to fit into the nucleus but also limit access to DNA.
8. These histones must disassociate before replication.
9. For a cell to reproduce 3 events MUST occur. What are these 3 events?

1. Copy genetic information

2. Separate copies from each other

3. Cell must divide

10. What is a homologous pair and when is it most important?

A pair of similar chromosomes in a diploid organism, important for crossing over to gain genetic diversity
during meiosis

11. What are the elements required for a functional chromosome? What is a chromosome?

Centromere, pair of telomeres, origin of replication.

Chromosome - linear DNA molecule complexed with histone protein

12. Compare and contrast meiosis vs. mitosis. Pages 9-12 of textbook

13. What are the phases of mitosis & meiosis? What happens in each phase? Pages 9-12 of textbook

14. During meiosis there are 2 sets of which process? What is the difference between the first and

second sets of phases?

Two sets of cell division. First division of homologous chromosomes, second is division of sister

chromatids.

15. What are the 3 subphases of Interphase?

 1. G1

2. S

3. G2

16. What happens to the chromosomes and cells in each of the subphases of the M phase?

1. G1 - grows and prepares to divide

2. S - DNA synthesis

3. G2 - cell volume doubles

17. Label at least 1 cell that is in each of the stages of mitosis.

18. During Meiosis we see that genetically different cells can be produced. What causes these

genetic differences? And when does this occur?

Crossing over, prophase 1 of meiosis.

19. Define each of the following terms.

a. Gene - genetic factor that helps determine a trait or characteristic

b. Locus - specific physical location on a chromosome where a gene is located

c. Allele - alternative forms of a gene

d. Homozygote - alleles at a locus are identical

e. Heterozygote alleles at a locus are different

f. Cross - mating between individuals

g. Genotype - genetic constitution of an organism

h. Phenotype - physical manifestation of a genetic trait

i. P generation - parental generation in a cross

j. F1 generation - first filial generation

k. F2 generation - second filial generation

 l. Backcross - mating where an offspring is mated to one of its parents

m. Testcross - a mating where one parent has a homozygous recessive genotype

20. Mendel found 2 laws in his studies. Name each of these laws and match them with their

definition.

a. Principle of independent assortment : alleles at different loci separate

independently of one another.

b. Principle of segregation : every individual possesses two alleles for each trait and they

segregate with equal proportion when gametes are formed.

21.How would you define the concept of dominance outlined by Mendel?

When 2 different alleles are present, only 1 allele is observed in the phenotype

22. When punnett squares are more complex their probabilities can be combined using the

multiplication rule and the addition rule. What are these probability rules?

a. Multiplication - probability of 2 independent events occurring sequentially is calculated by

multiplying together their individual probabilities

b. Addition - probability of any 1 or 2 or more events mutually exclusive events is calculated

by adding together their probabilities
23. What does a chi-squared value tell us about the outcome of a cross? What is the

chi-square formula? Σ (observed - expected)^2 / expected

24. What is a null hypothesis? Defines relationship between what is expected and observed, caused by
chance or not

25. Pick one question you have previously seen worked in class or homework using a factorial (!) and
rework it.

26. Define the following terms.

a. Sex chromosomes - non homologous chromosome used to determine sex

b. Autosomes - non-sex chromosome

c. Sex-linked traits - trait determined by a gene located on a sex chromosome

d. Hemizygous - situation where if one only 1 sex-linked allele, the trait corresponding to the
allele will be expressed even if recessive

e. Barr body - inactive X chromosome

f. Pseudoautosomal region - DNA regions near telomeres on X and Y chromosomes that carry
the same genes allowing these two non-homologous chromosomes to pair during meiosis

27. How are sex-linked traits formatted?

Written as exponents X^+

28. Sex is determined in many species by an individual either having an XX or XY pair of sex

chromosomes. The X chromosome carries more genes than the Y and the adjustment made to

account for this in genetic code (dosage compensation). There are 3 main ways that this

difference is compensated across species.

a. Double Y activity

b. Half X activity

c. Inactive genes on 1 X (Where is this most common?)

29. Other than the XX/XY sex-determining system. There are 2 more chromosome

combinations for sex determination these are XX/XO and ZZ/ZW. For each of these

chromosome combinations state which combination is male/female as well as an example

of a species that uses that system.

a. XX/XO
XX-female XO-male

b. ZZ/ZW

ZW-female ZZ-male
30. Another way that sex is determined is by haplodiploidy. Explain how haplodiploidy works and

what haplodiploidy means.

Males develop from unfertilized eggs and females from fertilized eggs. Female 2n and Male 1n

31. There are 3 common sex-chromosome abnormalities. Name each of them by matching them with

their definition.

a. Poly-X Females: females with more than 2X chromosomes

b. Turner Syndrome : female with only 1 X chromosomes

c. Klinefelter Syndrome: males with more than 1X and sometimes more than 1 Y

chromosome,

32. What is the SRY gene? Where does it sit?

Primary determinant of maleness in humans, sits just below pseudoautosomal region

.
33. X:A ratio= #X chromosomes/# haploid sets of autosomes therefore

a. Female = 1

b. Male = 0.5

c. Sterile male = <0.5

d. Intersex = 0.5<X:A<1

e. Metafemale = >1

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