Alvarez 1

FALL 2010 BIO206 REVIEW Points for EXAM I

FORMAT: The exam will have short answer questions, definitions of genetic terminologies,
Multiple choice questions; fill in the blanks, choose the correct answer etc
Chapters to Cover: Chapter 1-4 (up to and Including Meiosis)

Concepts/Topics
1. The nature of biological information: The chemical nature of DNA, RNA and Proteins
and the relationship between them.
DNA
Order of amino acid nucleic acid→ amino acid

Proteins
made of amino acids
basic amino acid group (-NH)
acidic carboxyl group (-COOH)
sequence of amino acids → 3D shape
RNA
first info processing molecules
G-C, A-Uracil
DNA → RNA → Amino acid sequence → Protein

2. Mendel’s laws and the experiments that led to the laws

Law of Segregation
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Law of Independent assortment

3. Monohybrid and di-hybrid crosses: what do they tell us.

Possible genotypes of offspring--> probabilities
4. Punnett Square, test crosses, The concept of alleles
5. Human genetics, use pedigrees to study patterns of inheritance
If vertical disease → rare dominant trait
If horizontal disease → rare recessive trait
6. Probability: product rule and the sum rule
Product rule: P (A and B occurs) = P(A) x P(B)
Sum rule: If Mutually exclusive
P (A or B occurs)= P(A) + P(B)
7. Concept of Dominance and recessive
8. Multiple alleles, Co-dominance, incomplete dominance: be ready to provide examples
Dominance Ratio Example
Complete 31
Incomplete (intermediate) 121
Codominance (equal) 121
Recessive Epistasis 934
Dominant Epistasis 12 3 1 OR 13 3
Complementary 97
Dihybrid het het cross 9331
Monohybrid het het cross 31

9. Dominance series in multiple alleles and lethal alleles

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10. Extensions to Mendel and situations with deviations from Mendelian ratios
Mendel Extension/Variation Phenotype Ratio
Complete Dominance Incomplete Dominance/ Unlike either homozygote 121
Codominance
2 alleles Multiple alleles Multiple phenotypes 31
All alleles viable Recessive lethal alleles None 2 1 not
31
One gene → one trait Pleiotropy Depends on dominance Attchd

11. Blood group inheritance pattern

A
I i → A blood type
IB i → B
IBIA → AB
ii → O
Bombay phenotype
recessive epistasis of hh → cell doesn't produce H structure
→ looks like O but can actually be A, B, AB or O
12. Genetic Epistasis: recessive and Dominant: give examples
Dominant white leghorn x white wyandotte chickens
A- B- white
aa B- white
aa bb white
A- B- colored
Recessive color of lab retrievers
B- E- black
bb E- brown
-- ee yellow

13. Chromosome theory of Inheritance

Chromosomes are carriers of genes
meiosis/mitosis and sperm/egg union
14. Mitosis and meiosis: the differences
Mitosis
Occurs in somatic cells
Possible in both haploid and diploid cells
One round of division
Produces 2 diploid cells
Interphase → Mitosis → Interphase → Mitosis...
Meiosis
Occurs in germ cell (for sexual cycle)
Possible only in diploid cells
2 rounds of division (meiosis I and II)
Produces four haploid cells
G1 →S →G2 →Meiosis I →Interkinesis
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1- G1 →meiosis II → Gamete formation

gap btwn birth to chromosome replication
growth Meiosis I:
if stuck (not replicating) → G0 Prophase I: Leptotene
2- S
Chromosomes (but not chromatid)
DNA synthesis
become visible
Chromosome replication
3- G2 Centromeres → opposite poles
growth/synthesis of proteins for mitosis Prophase I: Zygotene
4- Mitosis (M) synapsis (get zippered) through the
Prophase synaptonemal complex
Chromosomes condense Prophase I: Pachytene
Centromeres move to opposite poles and Synapsis finishes
create microtubules Crossing over (non sister chromatid
nucleoli begin to dissappear exchange of genetics; recombination) occurs
Prometaphase Prophase I: Diplotene
Nuclear envelope breaks down
Synaptonemal complex dissolves
sister chromatids attach to microtubules
tetrad (4 chromosomes) is visible
Metaphase
Chromosomes align on the metaphase plate Crossing over visible as chiasmata
Sister chromatids face opposite poles hold non sister chromatids together
Anaphase Prophase I: Diakinesis
Centromeres divide Chromatids thicken/shorten
separated sister chromatids move to Nuclear membrane breaks down
opposite poles Spindles form
Telophase Metaphse I
Nuclear membran and nucleoli reform Tetrads line along metaphase plate and
spindle fibers dissappear
attach to spindles
chromosomes uncoil → chromatin
Sister chromatids in same direction
Cytokinesis
Homologous pair to opposite pole
cytoplasm divides
parent cell → daughter cells Anaphase I
IDENTICAL Chiasmate migrate off
→ genetically conservative Homologous pairs move to opp. Pole
Centromere remains intact
Telophase I
nuclear envelope reforms
Interkinesis
Like interphase w/o chromosomal
replication

Meiosis II = Mitosis
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NONE of the resulting cells are identical

→ combinational change
Allele
discrete unit of inheritance

Genotype
pair of alleles present in an individual

Phenotype
observable characteristic of an organism

Dominant
allele- an allele whose phenotypes is expressed in a heterozygote
epistasis- the dominant allele at one gene hides the effects of alleles on another gene
12:3:1 OR 13:3

Recessive
allele- an allele whose phenotype is not expressed in a heterozygote
epistasis- the allele must be recessive to cause epistasis

Homozygote
individual with identical alleles for a given gene or locus

Heterozygote
individual with different alleles for a given gene or locus

Locus
designated location on a chromosome

Diploid
carries two sets or chromosomes
normal cells in most organisms as well as zygotes

Haploid
carries one set of chromosomes
egg or sperm/pollen cells in animals/plants

Polyploidy
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three or more sets of chromosomes

complete sets--> euploid species
if in diploid species--> disease

Genes
basic unit of biological information
specific segment of DNA in a discrete region of a chromosome that serves as a unit of
function by encoding a particular RNA or protein

Chromosomes
the self replicating genetics structures of cells containing the DNA that carries in its
nucleotide sequence the linear array of genes

Chromatin
the generic term for any complex of DNA and protein found in a cell's nucleous

DNA
the molecule of heredity that encodes genetic information

Segregation
equal separation of alleles for each trait during gamete formation, in which one allele of
each gene goes to each gamete
Mendel's first law
two alleles for each trait separate during gamete formation and then reunite
randomly, one from each parent, at fertilization

Independent assortment
the random distribution of different genes during gamete formation
Mendel's second law
during gamete formation different pairs of alleles (genes) segregate independently
of each other

Complementation
process in which heterozygosity for chromosomes bearing mutant recessive alleles for
two different genes produces a normal phenotype
AA bb (deaf) x aa BB (deaf) → Aa Bb (not deaf)

Monohybrid
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individuals having two different alleles (heterozygous) for a single trait

Dihybrid
individual that is heterozygous for two genes at the same time

Epistasis
a gene interaction in which the effects of an allele at one gene hide the effects of alleles
at another gene

Co-dominance
expression of heterozyous genotype resulting in hybrid offspring that resemble both
parents equally for a particular trait

Incomplete dominance
expression of heterozygous genotype resulting in offspring whose phenotype is
intermediate between those of the parents

lethal genes
genes that prevent the birth/survival of an individual that has certain lethal alleles

Recessive lethal allele

an allele that prevents the birth/survival of homozygotes through heterozygotes carrying
the allele survive

penetrance
indicates how many members of a population with a particular genotype show the
expected phenotype

Expressivity
the degree or intensity with which a particular genotype is expressed in a phenotype

Down’s syndrome
AKA trisomy 21
set or mental and physical symptomsthat result from having an extra copy of
chromosome 21
ranges, often slower mental/physical development
mosaic- when only some cells in the body have trisomy 21
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translocation- part of chomosome 21 becomes attached (translocated) to another

chromosome before/at conception

Turner’s Syndrome
a human femal that recieves only one X chromosome (XO)
can have webbed neck and sterile

Aneuploidy
abnormal chromosome content

Kleinfelter syndrome
male that received two X chromosomes (XXY)
often tall, thin and sterile

Checkpoints in cell cycle

mechanisms that prevent cells from continuing to the next phase of the cell cycle until a
previous stop has successfully been complete, thus safeguarding genomic integrity

Metaphase plate
imaginary equator of the cell toward which chromosomes move during metaphase

Metaphase
stage in meiosis/mitosis in which the chromosomes are aligned along the equitorial plane
(metaphase plate) of the cell

Chromatid
one of two copies of a chromosome that exist immediately after DNA replication
sister chromatids are held together by protein complexes called cohesins

Kinetochore
a specialized chromosomal structure composed of DNA and proteins that is the site at
which chromosomes attach to spindle fibers
microtubules
of the mitotic spindle that extend between a centrosome and the kinetochore of a
chromatid
chromosomes move across the kinetochore microtubules during cell division