Test 4 SI Study GuideBiology 101 (Czako)

Chapter 13- Meiosis and Sexual Life Cycles

1. Sexual and Asexual reproduction, Karyotype, Autosomes, Sex
chromosomes.
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sexual reproduction: 2 parents give rise to offspring that have

unique combinations of genes inherited from the 2 parents
asexual reproduction: single individual passes all of its genes to
its offspring without the fusion of gametes
karyotype: an ordered display of the pairs of chromosomes from
a cell
autosomes: remaining 22 pairs of chromosomes that are not sex
chromosomes
sex chromosomes: chromosomes that determine the sex of the
individual; X and Y

2. Meiosis, Mitosis, fertilization (which two of these 3 alternate the

chromosome number in sexual life cycle)
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Meiosis: gametes are the only types of human cells produced by

this; results in one set of chromosomes in each gamete
Mitosis: conserves the number of chromosome sets and produces
cells that are genetically identical to the parent cell
fertilization: the union of gametes
o zygote: fertilized egg and has one set of chromosomes
from each parent

3. Homologous chromosomes (Maternal and paternal), Sister

Chromatids, Nonsister chromatids
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homologous chromosomes: 2 chromosomes in each pair; these

chromosomes are the same length and shape and carry genes
controlling the same inherited characters
o maternal: n = 3
o paternal: n = 3
sister chromatids: genetically identical and joined at centromere
nonsister chormatids:

4. MeiosisMeiosis I + Meiosis II, what is the outcome/ result of each

one (slide 11)
a) Meiosis I results in 2 haploid daughter cells with
replicated chromosomes

Prophase I 90% of the time required for meiosis;

chromosomes begin to condense; crossing over;
synapsis; each pair of chromosomes form a tetrad
Metaphase I tetrads line up at the metaphase plate
Anaphase I pairs of homologous chromosomes
separate
Telophase I and cytokinesis (PMAT) cell division, first
nucleus then cytoplasm
b) Meiosis II results in 4 haploid daughter cells with
unreplicated chromosomes
Prophase II spindle apparatus forms, chromosomes
move toward metaphase plate
Metaphase II sister chromosomes are arranged at
metaphase plate; the 2 sister chromatids of each
chromosome are no longer genetically identical;
kinetochores of sister chromatids attach to microtubules
extending from opposite poles
Anaphase II sister chromatids separate and now move
as 2 newly individual chromosomes toward opposite poles
Telophase II and cytokinesis (PMAT) chromosomes arrive
at opposite poles; nuclei form and chromosomes begin
decondensing; cytokinesis
5. Synapsis leading to Crossing over (happens in Prophase)
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synapsis: homologous chromosomes loosely pair up, aligned

gene by gene
crossing over: nonsister chromatids exchange DNA segments

6. Sexual reproduction - occurs by three mechanisms

a) Independent assortment of chromosomes each pair of
chromosomes sorts maternal and paternal homologues into
daughter cells independently of the other pairs
b) Crossing over produces recombinant chromosomes;
homologous chromosomes pair up gene by gene;
homologous portions of 2 nonsister chromatids trade
places; contributes to genetic variation by combining DNA
from 2 parents into a single chromosome

c) Random fertilization - adds to genetic variation because

any sperm can fuse with any ovum; 70 trillion diploid
combinations
Chapter 14- Mendel and the Gene Idea
1. Advantages of Pea plant for study.
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available in many different varieties

short generation time
large numbers of offspring
mating could be controlled

2. Understanding the terms true breeding, Self-pollination and Cross

pollination
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true breeding: plants that produce offspring of the same variety

when they self pollinate
self pollination
cross pollination

3. Alleles, Dominant, recessive, Law of Segregation, Homozygous and

Heterozygous for a gene
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alleles: alternative versions of a gene

recessive:
dominant:
law of segregation: the 2 alleles for a heritable character
separate during gamete formation and end up in different
gametes
homozygous: 2 identical alleles for a character
heterozygous: 2 different alleles for a gene

4. Punnett square, Phenotype, genotype and their ratio in F1

generation of Mendel pea plant
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punnett square: used for showing possible combinations of

sperm and egg
phenotype: physical appearance 3:1 ratio
genotype: genetic makeup 1:2:1 ratio

5. What is Test cross and its application

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test cross: used to determine the genotype by breeding the

mystery individual with a homozygous recessive individual
o if any offspring display recessive phenotype, mystery
parent must be heterozygous

6. Hybrids(2 different alleles)- Monohybrids, Dihybrids, monohybrid

cross and Dihybrid cross
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monohybrid: offspring who are heterozygous for one character

monohybrid cross: a cross between monohybrid heterozygotes
dihybrid: heterozygous for both characrers; produces by crossing
2 true breeding parents differing in 2 characters
dihybrid cross: a cross between F1 dihybrids; can determine
whether 2 characters are transmitted to offspring as a package
or independently
hybrid:

7. What is the phenotypic ratio of F2 generation in a dihybrid cross?

Law of Independent Assortment
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phenotypic ratio of F2 generation in dihybrid cross:

law of independent assortment: states that each pair of alleles
segregates independently of each other pair of alleles during
gamete formation; applies only to genes on different,
nonhomologous chromosomes or those far apart on same
chromosome

Beyond Mendelian Genetics with a single gene

8. Incomplete dominance , co-dominance, Multiple alleles, Pleiotropy
with example for each one
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incomplete dominance: the phenotype of F1 hybrids is

somewhere between the phenotypes of the 2 parental varieties
codomincance: 2 dominant alleles affect the phenotype in
separate, distinguishable ways
multiple alleles: most genes exist in populations in more than 2
allelic forms
o ex: 4 phenotypes of the ABO blood group in humans
pleiotropy: most genes have multiple phenotypic affects
o ex: responsible for the multiple symptoms of certain
hereditary diseases cystic fibrosis and sickle cell disease

Beyond Mendelian Genetics with more than one gene, in some cases
multiple genes
9. Epistasis (2 genes, one influencing other), Polygenic Inheritance (2
or more genes). Know examples for both.
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epistasis: a gene at one locus alters the phenotypic expression of

a gene at a second locus
o ex: labs coat color depends on 2 genes one determines
pigment color (B black, b brown) and the other determines

if the pigment will be deposited in the hair (E color, e no

color)
polygenetic inheritance: an additive effect of 2 or more genes on
a single phenotype
o ex: skin color in humans

Beyond Mendelian genetics with Nature and Nurture

10. Norm of reaction(phenotypic range), Multifactorial(Characters)
with example- flower that changes color with soil acidity(in plants)
and heart disease and cancer(in humans)
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phenotypic range: broadest for polygenetic characters

multifactorial: traits that depend on multiple genes combined
with environmental influences
o ex: flower that changes color with soil acidity (in plants)
and heart disease and cancer (in humans)

11. Pedigree, Carriers, Cystic fibrosis and Sickle cell (two disease
where parents may be carriers, symptoms for these diseases vary in
individuals because of Pleiotropy) 1gene having multiple effects.
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Pedigree: a family tree that describes the interrelationships of

parents and children across generations
Carriers: heterozygous individuals who carry the recessive allele
but are phenotypically normal
cystic fibrosis: most common lethal genetic disease in US; allele
results in defective or absent chloride transport channels in
plasma membranes leading to buildup of chloride ions outside
cell; symptoms: mucus buildup in some internal organs and
abnormal absorption of nutrients in small intestine
sickle cell: caused by substitution of a single amino acid in
hemoglobin protein in red blood cells; symptoms: physical
weakness, pain, organ damage, paralysis; affects 1/400 african
americans and 1/10 have the trait

12. What are the two tests for Identifying carriers? (Just know the
basic difference, all on slide 39 & 40)
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amniocentesis: liquid that bathes the fetus is removed and

tested
chorionic villus sampling (CVS): sample of the placenta is
removed and tested

Chapter 15- Chromosomal Basis of Inheritance

1. Chromosome theory of inheritance, Locus/ loci, Wild type, Mutant.

chromosome theory of inheritance

locus: a genes specific position along a chromosome
wild type: normal phenotypes that are common in a population
mutant phenotype: traits alternative to the wild type

2. XX, XY chromosomes, Sex linked genes, recessive sex-linked trait

for males and females
-

XX = female
XY = male
Sex linked gene: gene that is located on either sex chromosome
Recessive sex linked trait to expressed:
o X linked recessive disorders more common in males
o Female needs 2 copies of allele homozygous
o Male needs 1 copy of allele hemizygous

3. Barr body, Linked genes, Parental types, genetic recombination,

recombinants, crossing over
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barr body: inactive x chromosome condenses into this

linked genes: genes located on the same chromosome that tend
to be inherited together
parental type: offspring with a phenotype matching one of the
parental phenotypes
genetic recombination: production of offspring with combinations
of traits differing from either parent
recombinant: offspring with nonparental phenotypes (new
combinations of traits)
crossing over: some processes occasionally break the physical
connection between genes on the same chromosome; creates
recombinants

4. Alteration of Chromosome number

a) Non disjunction, Aneuploidy, Monosomic, Trisomic
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nondisjunction: pairs of homologous chromosomes do not

separate normally during meiosis; one gamete receives 2 of the
same type of chromosome other gamete receives no copy
aneuploidy: results from fertilization of gametes in which
nondisjunction occurred; offspring with this condition have
abnormal number of a particular chromosome
monosomic: zygote that has only 1 copy of a particular
chromosome
trisomic: zygote that has 3 copies of a particular chromosome
Monosomy in females with only one X results in Turners
syndrome

Trisomy with Chromosome 21 results in - Down Syndrome

Trisomy in male with X chromosome results in- Klinfelters
syndrome
b) Polyploidy- Triploidy and Tetraploidy
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polyploidy: condition in which an organism has more than 2

complete sets of chromosomes
o triploidy: 3n; 3 sets of chromosomes
o tetraploidy: 4n; 4 sets of chromosomes

5. Alteration of Chromosome structure by Deletion, Duplication,

Inversion, Translocation
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deletion: removes a chromosomal segment

duplication: repeats a segment
inversion: reverses orientation of a segment within a
chromosome
translocation: moves a segment from one chromosome to
another

Chapter 16- Molecular Basis of Inheritance

1 What is Transformation and how was the experiment to understand
it conducted? What are Bacteriophages?
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transformation: a change in genotype and phenotype due to

assimilation of foreign DNA
o experiement:
bacteriophages: viruses widely used in molecular genetics
research

2 Chargaffs rules, Structure of DNA- double helix, antiparallel sugar

phosphate backbone, made of Nucleotides
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chargaffs rules: base composition of DNA varies between

species; in any species, the number of A and T bases are equal
and the number of G and C bases are equal
structure of DNA
o double helix: 2 strands
o antiparallel sugar phosphate backbone
o made of nucleotides

3 What is a Nucleotide made of? What are Purines and Pyrimidines

(refer to chapter 5 sides if required)
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nucleotide:

o nitrogenous base
o deoxyribose
o phosphate group
purine: the nitrogenous bases that are Cytosine, Thymine, and
Uracil; have single six membered ring
pyrimidine: the nitrogenous bases that are Adenine and Guanine;
have a six membered ring fused to a five membered ring

4 Origin of replication in Prokaryotes and Eukaryotes, replication fork

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origin of replication: replication begins at these particular sites

where the 2 DNA strands are separate, opening up a replication
bubble
o eukaryotic
o prokaryotic
replication fork: at the end of each replication bubble; Y shaped
region where new DNA strands are elongating

5 Functions of all 7 enzymes- Helicases, Single stand binding proteins,

Primase, Topoisomerase, DNA polymerase 3 and DNA polymerase 1
and DNA ligase
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Helicase: unwinds parental double helix at replication forks

single strand binding protein: binds to and stabilizes single
stranded DNA until it is used as a template
topoisomerase: relieves overwinding strain ahead of replication
forks by breaking, swiveling, and rejoining DNA strands
primase: synthesizes an RNA primer at 5 end of leading strand
and at 5 end of each okazaki fragment of lagging strand
DNA polymerase iii: using parental DNA as a template,
synthesizes new DNA strands by adding nucleotides to an RNA
primer or a pre existing DNA strand
DNA polymerase i: removes RNA nucleotides of primer from 5
end and replaces them with DNA nucleotides
DNA ligase: joins okazaki fragments of lagging strand; on leading
strand, joins 3 end of DNA that replaces primer to rest of leading
stand of DNA

6 Leading strand, Lagging strand, Okazaki fragments

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leading strand: along one template strand of DNA, the DNA

polymerase continuously synthesizes this and moves toward the
replication fork; front
lagging strand: the new strand of DNA synthesized as a series of
segments which are joined together by DNA ligase; end
okazaki fragments: series of segments which are joined together
by DNA ligase

7 Mismatch repair and NER, what are the 3 enzymes that play a role
in NER
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mismatch repair: repair enzymes that correct errors in base

pairing
nucleotide excision repair (NER): when a nuclease cutes out and
replaces damaged stretches of DNA