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7.1

Genes and Alleles

Human genome contains 24 different chromosomes, two of which are
sex chromosomes
Each human has 23 pairs of homologous chromosomes
Pair of homologous chromosomes one from mother, one from father
o Humans are diploid, have 2 copies of the same gene, one on
each homologous chromosome, but the alleles may differ
o Locus = specific location of gene on chromosome

Genotypes and Phenotypes

Genotype = DNA sequence of alleles
o 2 different alleles at a given locus = heterozygote (Hh)
o Same alleles at give locus = homozygote (HH or hh)
Phenotype = physical expression of genotype
o Dominant allele = allele that is phenotypically expressed
o Recessive allele = allele not phenotypically expressed in
heterozygous state

7.2. Meiosis
While mitosis produces two daughter cells identical to parent, meiosis
produces two haploid cells from a diploid
Males spermatogonia undergoes meiosis produces haploid sperm
Females oogonia undergoes meiosis produces haploid ova

Meiosis quite similar to mitosis (prophase, metaphase, anaphase,

telophase)
However, there are two rounds of division in meiosis instead of one
meiosis I, meiosis II producing 4 haploid gametes
In meiosis, recombination occurs between homologous chromosomes

Prophase I
Chromosomes condense, nuclear envelope breaks down
Synapsis = homologous chromosomes pair, two copies of each gene on
each chromosome aligned closely
o Paired homologous chromosomes = tetrad/bivalent
o Precision is crucial, so synapsis regulated by synaptonemal
complex (SC), working like a zipper to connect homologous
chromosomes accurately
Crossing over/recombination = generic material exchanged between
homologous chromosomes in pair, allowing for genetic variation
SC formation and homologous recombination are interdependent, one
cannot occur without other
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Metaphase I
Tetrads instead of sister chromatids aligned at center
Anaphase I
Homologous chromosomes separate, sister chromatids remain
together

Telophase I
Cytokinesis occurs, cells considered haploid each cell with a single
set of homologous chromosomes

Meiosis II
No further DNA replication between Meiosis I and II
Same shit, separates the sister chromatids so each cell has a single set
of unreplicated chromosomes
Results in 4 haploid cells

Nondisjunction
Failure of homologous chromosomes to separate during meiosis I, or
failure of sister chromatids to separate during meiosis II
Results in one gamete having 2 copies, and the other having no copies
of the given chromosome
Gamete with 2 copies of a chromosome + normal gamete = trisomy
Gamete with no copies of a chromosome + normal gamete =
monosomy

7.3 Mendelian Genetics

Law of segregation two alleles are separated and passed onto next
generation singly (occurs during meiosis I when homologous
chromosomes separate)
Law of independent assortment alleles of one gene separate into
gametes independently of alleles for another gene
o Color of peas does not influence or depend on whether its
wrinkled
o One trait does not influence the occurrence of the other in this
case
Pure-breeding strain consistently produces progeny with same
phenotype
E.g. G = green, g = yellow
o If a green plant is encountered, we can testcross it with a gg
(yellow plant) to determine its genotype
o Testcross = crossing with a homozygous recessive individual
(pure breeding individual)
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o Progeny of testcross = F1 generation

o Some F1s are green, others yellow = original green plant was Gg
o All F1s green = original green plant was GG

Punnet Square
Refer to pg. 238
Place one individual on each axis
Label possible gametes on margins
If results dont agree exactly with ratios predicted by Punnett square,
its because sample size is too small

Rules of Probability
P (A and B) = P(A)P(B)
o Given that A and B are independent events
P(A or B) = P(A) + P(B) P(A and B)

7.4 Extending Mendelian Genetics

Incomplete Dominance
Heterozygote phenotype is a blended mix of both alleles
E.g. RW results in pink phenotype

Codominance
Both alleles are expressed phenotypically, but not blended
E.g. AB blood type has both type A and B antigens on surface of RBCs
o Expression of Rh antigen follows classically dominant pattern

Other shit
Pleiotropism gene alters many different seemingly unrelated aspects
of total phenotype
Polygenism trait influenced by many different genes
Penetrance likelihood that a person with a genotype will express
expected phenotype
Epistasis expression of alleles for one gene dependant on a different
gene (e.g. curly hair cannot be expressed if another gene causes
baldness)
Recessive Lethal Alleles recessive allele that cause death when
homozygous

Sex Chromosomes
Female gametes only have X chromosomes
Male gametes have X or Y chromosome, so sperm determines gender
of embryo
Sex-linked traits = traits determined by genes on sex chromosomes
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7.5 Linkage

Failure of genes to display independent assortment

If genes located very close to one another on chromosome, they
probably are not inherited independent of each other
For pea plants, if the height and color alleles are very close to each
other, those two alleles will probably assort together into gametes
during meiosis, limiting the possible allele combinations

Linkage and Recombination

Linkage is the exception to independent assortment
Meiotic recombination is the exception to linkage it can separate
alleles located on the same chromosome produces new allele
combinations not present in parent
Often in a cross involving genes on the same chromosome, the result is
an intermediate between independent assortment and complete
linkage recombination occurs for some of the gametes, not all
Frequency of recombination increases the further apart the two genes
are on the same chromosome
o If the two genes are far apart, recombination is so frequent that
they no longer display linkage and instead display independent
assortment
Recombination frequency = total # of recombinant phenotypes / total
# of offspring
o Maximal recombination frequency occurs when there is no
linkage, all gametes assort independently

Example refer to handwritten notes

7.6 Inheritance Patterns

Autosomal traits caused by genetic variation on autosomes (22 pairs of non-

sex chromosomes)
Autosomal dominant single copy of allele confers trait or disease
phenotype
Autosomal recessive two copies of allele are required for affected
phenotype presentation
Both have no sex bias

Mitochondrial traits all offspring of affected females also affected

o Affected individuals cannot have affected father
o Affected males cannot have affected offspring
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Y-linked traits only passed from males to their male offspring

X-linked traits can be recessive or dominant
o X-linked recessive phenotype only present in females if theyre
homozygous for that allele
Since males have only one X chromosome, they always
express recessive X-linked alleles
X-linked recessive traits affect males more than females,
since females must be homozygous for the allele to be
affected
o X-linked dominant female will be affected with one or two
copies of the allele, male always affected
Usually affects males more than females

7.7 Population Genetics

Inheritance of traits in populations over time

Population = members of a species that reproduce with each other
Gene pool = sum total of all genetic information in a population

Hardy-Weinberg law = frequencies of alleles and genotypes in gene pool do

not change over time, providing that:

There is no mutation, migration, natural selection

There is random mating (not picking mates based on traits)
Population is sufficiently large to prevent random drift in allele
frequencies

p+q=1 (p = dominant allele frequency, q = recessive allele frequency)

squaring both sides p2+ 2 pq+ q2=1
p^2 = GG frequency, 2pq = Gg frequency, q^2 = gg frequency
Hardy-Weinberg equilibrium achieved by population after one
generation, all subsequent generations will have the same allele and
genotype frequencies as F1

7.8 Evolution By Natural Selection

Natural selection acts on phenotypes, not genotypes

o Only alters frequency of existing alleles, cannot create new ones
and increase genetic diversity
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o There MUST be variability in heritable traits for natural selection

to work; natural selection cannot act if theres no variability
Heritable traits (alleles of genes) produce traits that affect the ability of
an organism to survive and reproduce
Alleles producing favorable phenotypes more likely to survive and
proliferate
Alleles producing unfavorable phenotypes die off
Fitness ability of an organism is in passing on its alleles to future
generations
o A fish that has two offspring that protects both to ensure their
survival to maturity has the same fitness as a fish that has 10
offspring but abandons them, causing the death of 8

Sources of Genetic Diversity

2 sources of genetic variation in a population new alleles (through

mutations), and new combinations of alleles (through reproduction,
independent assortment, recombination)

Modes of Natural Selection

Directional selection polygenic traits follow bell curve of gene

expression if natural selection removes those at one extreme,
population average will shift in other direction over time
Divergent selection natural selection removes members near the
average, leaving the extremes splits population in two over time,
may lead to new species
Stabilizing selection both extremes of a trait selected against, driving
population closer to average
Artificial selection humans intervene in mating process
Sexual selection elaborate rituals and physical displays to attract and
choose mates
Kin selection sacrificing oneself to save alleles shared with another

7.9 Species and Speciation

Species group of organisms capable of sexually reproducing with

each other, must produce fertile offspring
o Population = subset of species, implies that members do actually
sexually reproduce with one another
Reproductive isolation keep different existing species separate
o Prezygotic barrier prevents formation of hybrid zygote
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o Postzygotic barrier prevents development, survival, or

reproduction of hybrid individuals (those that arise from mating
between two different species)
Hybrid inviability hybrid offspring dies before maturity
Hybrid sterility does not produce normal gametes,
incapable of breeding
Hybrid breakdown two hybrids successfully mate, but
second generation is defective
Speciation creation of new species all species come from pre-
existing species
o Cladogenesis one species diversifies, becoming 2 or more
o Anagenesis one species becomes another, so much change
that current species would hypothetically fail to reproduce with
ancestors
o Sympatric speciation one species gives rise to a new species in
the same geographical area, such as through divergent selection
Homologous structures shared physical features of two species from
common ancestor
Analogous structures serve same function in different species, but
not from common ancestor
Convergent evolution similar selective pressures causes two species
to have many analogous structures
Divergent evolution divergent selection causes cladogenesis
Parallel evolution two species undergo similar evolutionary changes
to similar pressures (e.g. during ice age, all organisms selected for
ability to tolerate cold)

7.10 Taxonomy

Binomial classification genus + species

Domain, kingdom, phylum, class, order, family, genus, species