BIO Exam 1

Chapter 1:
-Genetics: is the study of heredity and variation, genetics is the unifying discipline in biology.
-Human Genome Project: goal=decipher DNA in our chromosomes, 3billion nucleotide base
pairs
TECHNOLOGY: recombinant DNA(can provide new medicines), mammalian cloning, GFP
-Trait: any characteristics that an organism displays, (eye color, hair texture, height, blood type)
-Morphological Trait: affects the appearance of the organism
-Physiological Trait: affects the function of the organism
-Behavioral Trait: affects the ways an organism responds to the environment.
-Living Cells: made of small organic molecules linked tg by chemical bonds to form larger
molecules, 4 types: `nucleic acids `proteins `carbohydrates `lipids form macromolecules
-Organelle: a membrane bound compartment w/ a specialized function (ex. Nucleus)
-Proteins determine characteristics (“workhorses” of cells) diverse functions—transport, motor
proteins, signaling, enzymes(speed up chemical reactions)
-DNA is a polymer of nucleotides, encodes info required to synthesize all cellular proteins,
stored in chromosomes
-Genes: segments of DNA that produce a functional product, fundamental unit of heredity, info
directs production of proteins.
-Gene Expression: transcription and translation
-Genetic Variation: know Morphs, mutations, Theory of Inheritance, Transmission genetics,
Molecular genetics, Population genetics
Chapter 2:
-Prokaryotes: no nucleus, no membrane bound organelles, rigid cell wall, may contain other
structures, usually contain single type of circular chromosome
-Eukaryotes: have a nucleus, may have flagella and other structures, may have cell wall,
membrane-bounded organelles(mitochondria, chloroplasts, lysosomes, golgi apparatus)
-Cytogenetics: the field of genetics that involves microscopic examination of chromosomes
-Animal cells: Somatic(body cells other than gametes) and Gametes(sperm and egg cells,
precursor cells that give rise to sperm and egg)
-Karyotype: is a set of images of the chromosomes
-Eukaryotic chromosomes are inherited in sets, most eukaryotic species are diploid (two sets of
chromosomes)
-Know cell division and Eukaryotic cell cycle (G1,S,G2,M phases)
-Mitotic Spindle Apparatus: has 3 types of microtubles= aster, polar, kinetochore
-Know mitotic cell division: 5 phases (Prophase, Prometaphase, Metaphase, Anaphase,
Telophase)
-Know meiosis: Meiosis I and Meiosis II
-Spermatogenesis: production of sperm, one remains spermatogonial cell other remains primary
spermatocyte
-Oogenesis: production of egg cells
-How plants alternate between haploid and diploid generations

Chapter 3:
-Mendel’s study of pea plants (again Theory of Inheritance, Early theories include Pangenesis,
blending hypothesis)
-Characteristics studies by Mendel: height, flower color, flower position, seed color and shape,
pod color and shape
-Two types of crosses: self-fertilization and cross-fertilization
-Mendel mated true-breeding plants w/ one trait to plants w/ a different trait to create hybrids
-Mendel’s Law of Segregation: The two copies of a gene segregate (or separate) from each other
during transmission from parent to offspring. (explained by homologs as well)
-Know how to use Punnett Squares (3:1 ratio and 9:3:3:1 ratio)
-Chromosome Theory of Inheritance: Inheritance patterns of traits cam be explained by
transmission of patterns of chromosomes during meiosis and fertilization. 1.
Chromosomes contain genetic material, 2. Chromosomes are replicated and passed down
from parents to offspring, 3. Nuclei of most eukaryotic cells contain chromosomes in
homologous pairs, 4. In the formation of haploid cells, chromosomes segregate
independently, 5. Each parent contributes one set of chromosomes.
-Know how to read a pedigree
-Recessive pattern of inheritance: 2 unaffected heterozygous individuals will on average have
25% affected offspring, 2 affected= 100% affected offspring, can ‘skip generations’
-Dominant pattern of inheritance: does not ‘skip generations’, affected individual will have at
least one affected parent (however disease may also result from mutation)
-Probability and statistics, and product rule(section 3.6)
Chapter 4:
-X-Y Sex Determination: found in mammals including humans, Male=XY (heterogametic sex),
female=XX (homogametic sex)
-X-0 Sex Determination: found in many insects ie grasshoppers, Male=X0 (just 1 X
chromosome) some have XY ie Drosophila Female=XX, ratio of X chromosomes to
autosomes, 1X/2n=male, 2X/2n=female
-Z-W Sex Determination: found in birds and some fish, Male=ZZ (homogametic sex),
female=ZW (heterogametic sex)
-Haploid Sex Determination: found in bees, wasps, and ants, sex determined by # of
chromosomes,
-Temp. Dependent Sex Determination: found in reptiles and some fish, male= eggs incubated at
33C, females= a few degrees below or above 33C
-Behavioral Sex Determination: ex. Clownfish, protandrous hermaphrodites one F one M many
small juvenile, when large F dies, M becomes F and one juvenile becomes M
-Dioecious Plants: M (XY) plant and F (XY) plants, need cross fertilization
-Dosage Compensation: the mechanism that keeps levels of expression of X chromosome in
balance w/ those of autosomal genes for both sexes
-X-Chromosome Inactivation: X chosen at random early in development then maintained (Lyon
Hypothesis) Klinefelter syndrome (XXY, 1 BB*), Turner syndrome (X0, no BB), Triple
X syndrome (XXX, 2 BB) *BB=Barr Body
-Three phases for inactivation: initiation, spreading, maintenance
-Pseudoautosomal genes: found on X and Y, some regions share homology, help in passing X
and Y chromosomes during Meiosis I
-Inheritance patterns of X-linked genes: male is said to be hemizygous for X-linked genes,
-Morgan’s fly experiment: confirmed that a particular gene was localized to a singular
chromosome, he got ZERO white-eyed females
-Pedigrees (again) can identify x-linked genes: ie Duchenne Muscular Dystrophy (DMD)
-Reciprocal crosses: 2 crosses that differ in which sex carries the trait, again DMD
Chapter 5:
-Mendelian Inheritance: (AGAIN) Law of Segregation, Law of Independent Assortment
-Wild-Type Alleles: the most prevalent version of a gene in wild populations, proteins function
normally, promote reproductive success of organism, when 1+ common allele= genetic
polymorphism
-Recessive Alleles: mutant (recessive) typically produce less functional protein either b/c its
defective or just produce lower levels of the functional protein
-Dominant Alleles: three types 1. Gain-of-function, 2. Dominant-negative, 3. Haploinsufficiency
-Gain-Of-Function: the gene gains a new or abnormal function; may be overexpressed
(producing higher levels of the protein)
-Dominant-Negative: the mutant protein acts to antagonize the normal protein
-Haploinsufficiency: the mutant is a loss-of-function allele, and one wild-type copy is not enough
to provide function ie, polydactyly in humans
-Incomplete Penetrance: allele does not always “penetrate” into the phenotype of the individual,
penetrance described at population level ie, 60% heterozygotes carrying dominant allele
exhibit trait=60% penetrance
-Variable Expressivity: degree to which a trait is expressed
-Norm of Reaction (briefly mentioned in ch1): is the range of phenotypes seen due to
environmental effects for a given genotype.
-Incomplete dominance: heterozygote exhibits a phenotype that is intermediate between the
phenotype of two homozygotes
-Overdominance: when a heterozygote has greater reproductive success than the homozygote
(aka heterozygote advantage) ie, sickle cell anemia
-know molecular mechanisms of overdominance and disease resistance
-Homodimer function: two subunits: A1A1=only A1A1 homodimers, A2A2=only A2A2
homodimers, A1A2= A1A1,A2A2, AND A1A2 homodimers, for some proteins A1A2
homodimer may have better functional activity
-Sex-Influenced traits: an allele is dominant in one sex, but recessive in another
-Sex-Limited traits: traits that only occur in one of the two sexes
-Lethal Alleles: essential genes-genes required for survival(absence of protein leads to lethal
phenotype), nonessential genes- genes not required for survival
-Conditional lethal alleles: kill an organism only under certain environmental conditions, ie,
temperature sensitive lethals
-Pleiotropic effects: multiple effects of a single gene on the phenotype of an organism ie, cystuc
fibrosis
-know coat color patterns, gene interactions, gene redundnacy
-Epistasis: when a gene can mask the phenotypic effects of another gene
Chapter 4 & 5 for study

-Hippocrates proposed a mechanism for inheritance in which all parts of the body produced
"seeds" that were collected and transmitted to the next generation. His proposal was called
pangenesis.
-Select all of the true statements regarding Gregor Johann Mendel.
Mendel was an Augustinian priest/monk.
Mendel is regarded as a pioneer of genetics.
Mendel initially failed the licensing exam to continue teaching.
-The offspring of a genetic cross between organisms with distinctly different traits for a
particular character is called a hybrid
-The offspring of a pea plant with purple flowers and a pea plant with white flowers would be
called hybrids
-Why was the common garden pea, Pisum sativum, that Mendel used in his genetic experiments
an ideal specimen to study genetic crosses?
The Pisum sativum plants that he used were true breeding with two distinct genotypes and
phenotypes.
-The idea that heredity depended on all parts of the body producing "seeds" that were collected
and transmitted to the offspring is called pangenesis.
-A cross between a true breeding tall plant and a true breeding short plant is an example of a
hybridization experiment.
-Which of the following is an example of a hybrid?
The offspring of parental pea plants both with green seeds.
The offspring a pea plant with yellow seeds and a pea plant with green seeds.
The offspring of parental pea plants both with yellow seeds.
-Select all of the reasons that the common garden pea, Pisum sativum, was an ideal species to
study genetic crosses.
The plant has distinct varieties.
The Pisum sativum plants that he used were true breeding with two distinct genotypes and
phenotypes.
-Which of the following are examples of a true-breeding strain?
A strain of tall plants with purple flowers that have produced the same phenotype for
several generations.
A strain of short plants whose parents and grandparents were all short.
-In carrying out experiments to uncover the relationships governing hereditary traits, Mendel was
following an empirical or quantitative approach
-Which of the following would be classified as the P generation?
True-breeding parents that are crossed
Which letter denotes the F1 generation?
B
-A pea plant will be tall if it has a least one tall allele in its genome. A plant will be dwarf only if
it has two alleles for the dwarf phenotype. What conclusion can be drawn based on this
information?
The tall allele is dominant to the dwarf allele.
-The term to describe the basic unit of heredity that influences an organism's traits is gene
-In a genetic study that begins with you and your mate, you and your mate would be considered
the P generation.
-A tall pea plant is crossed with a short pea plant. What type of cross is this?
Monohybrid cross
Single-factor cross
-Which law states that two copies of a gene separate from each other during transmission from
parent to offspring?
Law of segregation
-A gamete has only one copy of each gene. Which of Mendel's laws defines this fact?
Law of segregation
-Presence of freckles (FF or Ff) is dominant to lack of freckles (ff). If a male who has freckles
mates with a female that does not have freckles, what combination of alleles will be present in
the F1 generation?
Ff  or  ff
-Which of Mendel's laws accounts for the genotype of the gametes as shown in the figure?
-Genotypes describes the combination of alleles an individual has.
-An alternative form of a gene is called a(n) alleles
-Presence of freckles (FF or Ff) is dominant to lack of freckles (ff). If a heterozygous male, who
has freckles, mates with a female that does not have freckles. what percentage of the
F1 generation would be expected to have a homozygous dominant genotype?
0%
-A male parent has the genotype TT and a female parent has the genotype Tt. How would the
Punnett square for this cross be set up?
The male gametes T and T would be placed as the header of the columns and the female
gametes T and t would be placed as the headers of the rows
-A tall pea plant with axial flowers has the genotype TTAA. What are the gamete possibilities of
this plant?
All TA
-A Punnett square is a tool that can be used to predict the expected ratios of a genetic cross.
List the following steps in the correct sequence.
Position 3 of 4 Determine possible offspring genotypes by filling in the empty boxes with the
symbol across the top or side of each column or row, respectively correct toggle button
unavailable
Determine possible offspring genotypes by filling in the empty boxes with the symbol across the
top or side of each column or row, respectively
Position 4 of 4 Analyze the relative proportion of each genotype and phenotype of the offspring
correct toggle button unavailable
Analyze the relative proportion of each genotype and phenotype of the offspring
-Based on Mendel's law of independent assortment, an organism with the genotype AaBb should
form gametes with which of the following ratios?
1 AB : 1 Ab : 1 aB : 1 ab
-The gamete possibilities of an organism with the genotype Tt are _____ and _____.
T
t
-A tall pea plant with purple flowers is crossed with a short pea plant with white flowers. What
type of cross is this?
Dihybrid cross
Two-factor cross
-A tall pea plant with axial flowers has the genotype TtAa. What are the gamete possibilities of
this plant?
1/4 TA : 1/4 Ta : 1/4 tA : 1/4 ta
-Alleles of two different genes will be randomly distributed into gametes during the formation of
haploid cells. This statement summarizes which of Mendel’s laws?
Law of independent assortment
-Determine the possible gametes that could normally be formed from an organism with the
genotype AABbCc.
AbC
ABC
ABc
Abc
-What is the expected phenotypic ratio when a plant that is heterozygous for two traits is allowed
to self fertilize?
9:3:3:1
-An organism's genotype is RrYy and it produces gametes with the
genotypes RY, Ry, rY and ry with equal frequency. Which of Mendel's laws explains this fact?
Mendel's law of independent assortment
-In humans, broad thick eyebrows are dominant to smaller more slender eyebrows. Separated
eyebrows are dominant to joined eyebrows (unibrow). If a male with a slender unibrow mates
with a female with a thick unibrow what is the likelihood that they will produce children with
thick, separate eyebrows?
0%
-A tall pea plant with round, yellow seeds, heterozygous for all three traits, is allowed to self-
fertilize. How many of the offspring would be expected to be tall with round, yellow seeds?
27/64
-A fundamental principle of the chromosome theory of inheritance involves the chromosome
composition of cells. Most eukaryotic cells are diploid, containing chromosomes that are found
in  HOMOLOGOUS pairs. During the process of , MEIOSIS the two members of
each pair segregate into different daughter nuclei.
-The behavior of chromosomes during meiosis explains Mendel's law of segregation.
Specifically, a gamete contains only one copy of each type of chromosome because of which of
the following?
The homologs segregate during meiosis I and the sister chromatids separate during meiosis
II
-A tall pea plant is crossed with a short pea plant. What type of cross is this?
Single-factor cross 
Monohybrid cross
-Purple flower color (allele P) is dominant to white flower color (allele p) in pea plants. Yellow
seed color (allele Y) is dominant to green seed color (allele y). If you cross a pea plant with
purple flowers and yellow seeds that is heterozygous with a pea plant with white flowers and
green seeds, what would be your expected genotypic ratio?
25% PpYy:25% Ppyy:25% ppYy:25% ppyy
-A tall pea plant with round, yellow seeds, heterozygous for all three traits, is allowed to self-
fertilize. How many of the offspring would be expected to be dwarf with wrinkled, yellow seeds?
3/64
-What aspect of chromosome behavior is consistent with Mendel's law of independent
assortment?
Independent alignment of different homologous pairs along the metaphase I plate
-All of the following are fundamental principles of the chromosome theory of inheritance except:
each parent contributes one set of chromosomes to its offspring.
chromosomes contain the genetic material that is transmitted from parent to offspring and
from cell to cell.
chromosomes passed along, generation after generation, from parent to offspring.
during the formation of haploid cells, different types of chromosomes segregate
independently of each other.
chromosome replication occurs during the S phase of the cell cycle.
-The behavior of chromosomes during meiosis explains Mendel's law of segregation.
Specifically, a gamete contains only one copy of each type of chromosome because of which of
the following?
The homologs segregate during meiosis I and the sister chromatids separate during meiosis
II
-What information can be obtained from a human pedigree?
How a gene is inherited
A family history of genetic traits
-What aspect of chromosome behavior is consistent with Mendel's law of independent
assortment?
Independent alignment of different homologous pairs along the metaphase I plate
-Which of the following methods would best be applied to determine if the observed phenotypic
ratios of a two-factor cross fit the expected ratios by Mendelian inheritance?
-The product rule can be used to predict the probability of independent events.
-Which of the following methods would best be applied to determine the probability of having
two babies and getting a female each time?
Product rule
-Which operation of probability should be used to analyze genetic crosses in which the problem
has an unordered combination of outcomes?
Binomial expansion