Mendelian Inheritance

• What genetic principles account for the

transmission of traits from parents to offspring?
 Theories of Inheritance
• One possible explanation of heredity is a
“blending” hypothesis
– The idea that genetic material contributed by two parents mixes in
a manner analogous to the way blue and yellow paints blend to
make green

• An alternative to the blending model is the

“particulate” hypothesis of inheritance: the gene
idea
-Parents pass on discrete heritable units, genes
-This hypothesis can explain the reappearance of traits after
several generations

• Mendel documented a particulate mechanism

of inheritance through his experiments with
garden peas
• Mendel used the scientific approach to identify
two laws of inheritance
• Mendel discovered the basic principles of heredity
– By breeding garden peas in carefully planned
experiments

• Mendel chose to work with peas

– Because they are available in many varieties
– Because he could strictly control which plants
mated with which
 Themes of Mendel’s work
• Variation is widespread in nature.

• Observable variation is essential for following

genes.

• Variation is inherited according to genetic laws

and not solely by chance.

• Mendel’s laws apply to all sexually reproducing

organisms.
 Mendel with fellow Monks

• Gregor Johann Mendel (1822-1884), Augustinian monk, Czech Republic

• Foundation of modern genetics
• Studied segregation of traits in the garden pea (Pisum sativum) beginning
• Published his theory of inheritance in 1865. “Experiments in Plant
Hybridization”
 Heredity
• Heredity - the transmission of traits from one
generation to the next.
• Genetics – the scientific study of heredity and
hereditary variation.
• Genes – hereditary units endowed from parents
• Segments of DNA
• Divided into Chromosomes
• 46 in humans
• A gene’s specific location on a chromosome is called
its locus
 Asexual Reproduction
• One parent
• Binary Fission in bacteria
• Single cell eukaryotes : mitotic cell division
– DNA is copied and divided equally between daughter
cells
• Multicellular organisms – Budding
– Hydra : Buds break off – are genetically identical to
its parent
• Each offspring in asexual reproduction is called a
clone
Sexual Reproduction
• Two parents
• Results in greater variation than asexual
reproduction
• Offspring vary genetically from siblings and
both parents
– Behavior of chromosomes during the
sexual lifecycle
Mendel’s Experimental, Quantitative Approach

• Advantages of pea plants for genetic study

– There are many varieties with distinct heritable
features, or characters (such as flower color);
character variants (such as purple or white
flowers) are called traits
– Mating can be controlled
– Each flower has sperm-producing organs
(stamens) and egg-producing organ (carpel)
– Cross-pollination (fertilization between different
plants) involves dusting one plant with pollen
from another
TECHNIQUE
1

2
Parental
generation
(P) Stamens
3 Carpel

RESULTS
5
First filial
generation
offspring
(F1)
Meiosis

• Differs from mitosis

• The process that halves the number of
chromosomes in a cell
• Occurs in Ovaries or Testes
 Meiosis
• Cell division to form the gametes, sperm (male gamete) and
egg (female gamete).

• Characteristic of eukaryotes only: not in prokaryotes.

• Normal cells are diploid: 2 copies of every gene.

• Diploidy is useful because 2 copies of every gene means that
there a backup copy if one gets mutated. Mutations are very
frequent in the cells of large organisms. We wouldn’t survive
with just one copy of each gene.

• Gametes are haploid: 1 copy of every gene

• Need to choose 1 copy of each gene randomly.
• Why have sexual reproduction? Shuffling of alleles between
parents and offspring leads to new combinations. Bad
combinations die without reproducing; good combinations
survive and reproduce more offspring.
 Crossing Over - variation

nonsister chromatids Tetrad

Chiasmata: site variation

of crossing over
Overview of Prophase I Nonsister
meiosis: how of meiosis chromatids
meiosis reduces held together
Pair of
chromosome homologs during synapsis
number
Chiasma • Four daughter
chromosomes

• IMPORTANT:
Centromere Homologous
TEM
chromosomes are
different than sister
Anaphase I
chromatids

Anaphase II

Daughter
cells
Recombinant chromosomes
 Crossing over switches linked genes

P R R P

Crossing-over multiplies the already huge number of different gamete

types produced by independent assortment.
A comparison of mitosis and meiosis
Boy or Girl? The Y Chromosome “Decides”
 A Comparison of Mitosis and Meiosis

• Mitosis conserves the number of chromosome

sets, producing cells that are genetically
identical to the parent cell.
• Meiosis reduces the number of chromosomes
sets from two (diploid) to one (haploid),
producing cells that differ genetically from
each other and from the parent cell
• The mechanism for separating sister
chromatids is virtually identical in meiosis II and
mitosis
Meiosis error -
fertilization
Should the gamete with
the chromosome pair be
fertilized then the
offspring will not be
‘normal’ - aneuploidy

In humans this often

occurs with the 21st pair
– producing a child with
Downs Syndrome
21 trisomy – Downs Syndrome

Can you see the

extra 21st
chromosome?

Is this person
male or female?
Genetic variation produced in sexual life
cycles contributes to evolution

• Mutations (changes in an organism’s DNA) are

the original source of genetic diversity

• Mutations create different versions of genes

called alleles

• Reshuffling of alleles during sexual

reproduction produces genetic variation
 The Evolutionary Significance of Genetic
Variation Within Populations
• Natural selection results in the accumulation of genetic
variations favored by the environment
• Sexual reproduction contributes to the genetic variation in a
population, which originates from mutations
• Crossing over adds even more variation
• Each zygote has a unique genetic identity

• Three mechanisms contribute to genetic variation:

i. Independent assortment of chromosomes (metaphase I)
ii. Crossing over (Prophase I)
iii. Random fertilization (when gamete unite to form Zygote)
A human ovum plus a human sperm
– 1 of 8 million combinations possible for each ovum and sperm
– 223 X 223 = over 70 billion combinations
 Variation
Also known as GENETIC RECOMBINATION
Important to population as the raw material for
NATURAL SELECTION.
All organisms are NOT alike
Strongest “most fit” survive to reproduce
& pass on traits

23
 Inheritance of Genes

• Genes are the units of heredity, and are made

up of segments of DNA
• Genes are passed to the next generation
through gametes (sperm and eggs)
• Each gene has a specific location called a
locus on a certain chromosome
• Most DNA is packaged into chromosomes
• One set of chromosomes is inherited from
each parent
• Mendel chose to track only those characters that
occurred in two distinct = alternative= forms.
• He also used varieties that were true-breeding (plants
that produce offspring of the same variety when they self-
pollinate).

• In a typical experiment, Mendel mated two contrasting,

true-breeding varieties, a process called hybridization
• The true-breeding parents are the P - generation
• The hybrid offspring of the P generation are called the F1
generation
• When F1 individuals self-pollinate or cross- pollinate with
other F1 hybrids, the F2 generation is produced etc.
 The Law of Segregation
• When Mendel crossed contrasting, true-
breeding white- and purple-flowered pea plants,
all of the F1 hybrids were purple
• When Mendel crossed the F1 hybrids, many of
the F2 plants had purple flowers, but some had
white
• Mendel discovered a ratio of about 3:1, purple
to white flowers, in the F2 generation
 EXPERIMENTAL CROSSES

P Generation
(true-breeding
parents) Purple White
flowers flowers

F1 Generation
(hybrids)
All plants had purple flowers
Self- or cross-pollination

F2 Generation

705 purple- 224 white

flowered flowered
plants plants
• Mendel reasoned that only the purple flower factor was
affecting flower color in the F1 hybrids

• Mendel called the purple flower color a dominant trait

and the white flower color a recessive trait

• The factor for white flowers was not diluted or

destroyed because it reappeared in the F2 generation

• Mendel observed the same pattern of inheritance in six

other pea plant characters, each represented by two traits

• What Mendel called a “heritable factor” is what we

now call a gene
Mendel’s Studied Discrete Traits

Antagonistic traits
Mendel’s Model
• Mendel developed a hypothesis to explain the
3:1 inheritance pattern he observed in F2
offspring.

• Four related concepts make up this model.

• These concepts can be related to what we now

know about genes and chromosomes.

© 2011 Pearson Education, Inc.

 First:
• alternative versions of genes (alleles) account for
variations in inherited characters.

• For example: The gene for flower color in pea

plants exists in two versions, one for purple flowers
and the other for white flowers.

• Each gene resides at a specific locus on a specific

chromosome.
Alleles, Locus

Allele for purple flowers

Pair of
Locus for flower-color gene homologous
chromosomes

Allele for white flowers

• Second:
• For each character, an organism inherits two
alleles, one from each parent. Mendel made this
deduction without knowing about the role of
chromosomes.

• The two alleles at a particular locus may be

identical, as in the true-breeding plants of Mendel’s
P generation = HOMOZYGOUS.

• Alternatively, the two alleles at a locus may differ,

as in the F1 hybrids = HETEROZYGOUS
Unlike homozygotes, heterozygotes are not
true-breeding
 Phenotype vs Genotype
Dominant vs recessive alleles
Smooth vs Wrinkled
peas seeds
 Third:
• If the two alleles at a locus differ, then one (the
dominant allele) determines the organism’s
appearance, and the other (the recessive allele)
has no noticeable effect on appearance (i.e,
phenotype).

• In the flower-color example, the F1 plants had

purple flowers because the allele for that trait is
dominant
 Fourth:
(now known as the law of segregation)

• The two alleles for a heritable character separate

(segregate) during gamete formation and end up in
different gametes.

• Thus, an egg or a sperm gets only one of the two

alleles that are present in the organism (parent).

• This segregation of alleles corresponds to the

distribution of homologous chromosomes to
different gametes in meiosis.
• Mendel’s segregation model accounts for the 3:1
ratio he observed in the F2 generation of his
numerous crosses.

• The possible combinations of sperm and egg can

be shown using a Punnett square, a diagram for
predicting the results of a genetic cross between
individuals of known genetic makeup.

• A capital letter represents a dominant allele, and

a lowercase letter represents a recessive allele
P Generation

Appearance: Purple flowers White flowers

Genetic makeup: PP pp
Gametes: P p

F1 Generation

Appearance: Purple flowers

Genetic makeup: Pp
Gametes: P p

Sperm from F1 (Pp) plant

F2 Generation P p

P
Eggs from PP Pp
F1 (Pp) plant
p
Pp pp

3 :1
• Because of the different effects of dominant and
recessive alleles, an organism’s traits do not
always reveal its genetic composition.

• Therefore, we distinguish between an organism’s

phenotype, or physical appearance, and its
genotype, or genetic makeup

• In the example of flower color in pea plants, PP and

Pp plants have the same phenotype (purple) but
different genotypes
 Phenotype Genotype

Purple PP 1
(homozygous)

3 Purple Pp
(heterozygous)

Purple Pp
(heterozygous)

White pp
1 1
(homozygous)

Ratio 3:1 Ratio differ Ratio 1:2:1

 The Testcross
• How can we tell the genotype of an individual with
the dominant phenotype?

• Such an individual could be either homozygous

dominant or heterozygous

• The answer is to carry out a testcross: breeding

the mystery individual with a homozygous
recessive individual
• If any offspring display the recessive phenotype,
the mystery parent must be heterozygous
Testcross

Dominant phenotype, Recessive phenotype,

unknown genotype: known genotype:
PP or Pp? pp
Predictions
If purple-flowered or If purple-flowered
parent is PP parent is Pp
Sperm Sperm
p p p p

P P
Pp Pp Pp Pp
Eggs Eggs
P p
Pp Pp pp pp

RESULTS
or
All offspring purple 1/ offspring purple and
2
1/ offspring white
2
The Law of Independent Assortment
• Mendel derived the law of segregation by
following a single character

• The F1 offspring produced in this cross were

monohybrids, individuals that are
heterozygous for one character

• A cross between such heterozygotes is called

a monohybrid cross
• Mendel identified his second law of inheritance by
following two characters at the same time

• Crossing two true-breeding parents differing in two

characters produces dihybrids in the F1 generation,
heterozygous for both characters

• A dihybrid cross, a cross between F1 dihybrids,

can determine whether two characters are
transmitted to offspring as a package or
independently
 Law of Segregation

• Mechanism of gene transmission

 Dihybrid Cross
• For example, in pea plants seed shape is
controlled by one gene locus where round (R) is
dominant to wrinkled (r) while seed color is
controlled by a different gene locus where yellow
(Y) is dominant to green (y).

• Mendel crossed 2 pure-breeding plants: one with

round yellow seeds and the other with green
wrinkled seeds.
Dihybrid YYRR yyrr
P Generation
cross R - Texture
Y - Color
Gametes YR yr

F1 Generation
YyRr

Predictions Hypothesis of Hypothesis of

dependent assortment independent assortment
Sperm
Predicted or 1/ 1/
1/ 1/
offspring of 4 YR 4 Yr 4 yR 4 yr
Sperm
F2 generation
1/ YR 1/
2 2 yr
1/ YR
4
YYRR YYRr YyRR YyRr
1/
2 YR
YYRR YyRr 1/
Yr
Eggs 4
YYRr YYrr YyRr Yyrr
1/ Eggs
2 yr
YyRr yyrr 1/ yR
4
YyRR YyRr yyRR yyRr
3/ 1/
4 4
1/ yr
4
Phenotypic ratio 3:1 YyRr Yyrr yyRr yyrr

9/ 3/ 3/ 1/
16 16 16 16

Phenotypic ratio 9:3:3:1

RESULTS 315 108 101 32 Phenotypic ratio approximately 9:3:3:1

 Dependent Segregation
• If dependent segregation (assortment) occurs:
– Alleles at the 2 gene loci segregate together, and are
transmitted as a unit.
– Therefore, each plant would only produce gametes with the
same combinations of alleles present in the gametes inherited
from its parents: Parents RR rr
YY yy

Parental Gametes R r
Y y
Rr
F1 Offspring
Yy
r
F1 Offspring’s Gametes R
Y y

What is the expected phenotypic ratio for the F2?

 F2 With Dependent Assortment:

R r
Y y
R RR Rr
Y YY Yy

r Rr rr
Yy yy
y

Ratio is 3 round, yellow : 1 wrinkled, green

 Independent Segregation
• Alleles at the 2 gene loci segregate (separate) independently,
and are NOT transmitted as a unit. Therefore, each plant would
produce gametes with allele combinations that were not present
in the gametes inherited from its parents:

RR rr
Parents YY yy

Parental Gametes R r
Y y
Rr
F1 Offspring
Yy
F1 Offspring’s R R r r
Gametes Y y Y y

What is the expected phenotypic ratio for the F2?

F2 with independent assortment:
RY Ry rY ry
RR RR Rr Rr
RY YY Yy YY Yy

RR RR Rr Rr
Ry Yy yy Yy yy

Rr Rr rr rr
rY YY Yy YY Yy

Rr Rr rr rr
ry Yy yy Yy yy

Phenotypic ratio is 9 : 3 : 3 : 1
• Using a dihybrid cross, Mendel developed the law
of independent assortment

• The law of independent assortment states that each

pair of alleles segregates independently of each other
pair of alleles during gamete formation.

• Strictly speaking, this law applies only to genes on

different, nonhomologous chromosomes or
those far apart on the same chromosome.

• Genes located near each other on the same

chromosome tend to be inherited together
Inheritance patterns are often more complex than
predicted by simple Mendelian genetics

• The relationship between genotype and phenotype

is rarely as simple as in the pea plant characters
Mendel studied.

• Many heritable characters are not determined by

only one gene with two alleles.

• However, the basic principles of segregation and

independent assortment apply even to more complex
patterns of inheritance
Some inheritance patterns are exceptions to
standard Mendelian inheritance
• There are two normal exceptions to Mendelian
genetics

• One exception involves genes located in the nucleus,

and the other exception involves genes located
outside the nucleus.
 Exceptions To Mendel’s Original Principles
• Incomplete dominance
• Codominance
• Multiple alleles
• Pleiotropy
• Linkage
• Sex linkage
• Polygenic traits
• Epistasis
• Environmental effects on gene expression
 Degrees of Dominance
• Complete dominance occurs when phenotypes
of the heterozygote and dominant homozygote are
identical.

• In incomplete dominance, the phenotype of F1

hybrids is somewhere between the phenotypes of
the two parental varieties.

• In codominance, two dominant alleles affect the

phenotype in separate, distinguishable ways – i.e.
when two alleles are both expressed (neither masks the other)
 P Generation
Red White
RR
rr

Gametes R r

F1 Generation
Pink
Incomplete Rr
dominance in
snapdragon Gametes 1/2 R
1/
2 r
color.
Sperm
1/
F2 Generation 2 CR 1/
2 CW

1/
2 CR
RR Rr
Eggs
1/
2 CW
Rr rr
 Frequency of Dominant Alleles

• Dominant alleles are not necessarily more common

in populations than recessive alleles.
• For example, one baby out of 400 in the United
States is born with extra fingers or toes –
Polydactyl.
• The allele for this unusual trait is dominant to the
allele for the more common trait of five digits per
appendage
• In this example, the recessive allele is far more
prevalent than the population’s dominant allele
 Multiple Alleles
• Most genes exist in populations in more than two
allelic forms

• For example, the four phenotypes of the ABO

blood group in humans are determined by three
alleles for the enzyme (I) that attaches A or B
carbohydrates to red blood cells: IA, IB, and i.

• The enzyme encoded by the IA allele adds the A

carbohydrate, whereas the enzyme encoded by
the IB allele adds the B carbohydrate; the enzyme
encoded by the i allele adds neither
Alleles, Locus

Allele for purple flowers

Pair of
Locus for flower-color gene homologous
chromosomes

Allele for white flowers

 Multiple alleles for the ABO blood groups.
(a) The three alleles for the ABO blood groups and their
carbohydrates

Allele IA IB i

Carbohydrate A B none

(b) Blood group genotypes and phenotypes

Genotype IAIA or IAi IBIB or IBi IAIB ii

Red blood cell

appearance

Phenotype
A B AB O
(blood group)
ABO blood types and possible blood transfusions
• Why are there different blood types?

• Because there is a connection between blood

type and susceptibility to certain diseases.
-AB nearly completely resistant to
Vibrio cholera (a diarrheal) disease
(European descent)
-O slightly more resistant to malaria
(African descent)
Pleiotropy
• Most genes have multiple phenotypic effects, a
property called pleiotropy.

• For example, pleiotropic alleles are responsible for

the multiple symptoms of certain hereditary
diseases, such as cystic fibrosis and sickle-cell
disease.
Epistasis
• In epistasis, a gene at one locus alters the
phenotypic expression of a gene at a second
locus.
• For example, in Labrador retrievers and many
other mammals, coat color depends on two genes
• One gene determines the pigment color (with
alleles B for black and b for brown).

• However, a second gene locus controls whether any

eumelanin at all is deposited in the fur. Dogs that are
homozygous recessive at this locus (ee) will have yellow fur
no matter which alleles are at the first locus.
 BbEe BbEe

Sperm
1/ BE 1/ 1/ 1/
4 4 bE 4 Be 4 be
Eggs
1/
4 BE
BBEE BbEE BBEe BbEe

1/
4 bE
BbEE bbEE BbEe bbEe
Epistasis
1/
4 Be
BBEe BbEe BBee Bbee

1/ be
4
BbEe bbEe Bbee bbee

9 : 3 : 4
 Polygenic Inheritance
• Quantitative characters are those that vary in the
population along a continuum.
• Quantitative variation usually indicates polygenic
inheritance, an additive effect of two or more genes on a
single phenotype.
• Most traits are not controlled by a
single gene locus, but by the
combined interaction of many gene
loci. These are called polygenic
traits.
• Polygenic traits often show
continuous variation, rather then a
few discrete forms:

Height, Skin color in humans

is an example of polygenic
inheritance.
Nature and Nurture: The Environmental Impact on Phenotype
• Another departure from Mendelian genetics arises
when the phenotype for a character depends on
environment as well as genotype.

• The norm of reaction is the phenotypic range of a

genotype influenced by the environment. They are
broadest for polygenic characters.

• For example, hydrangea flowers of the same

genotype range from blue-violet to pink, depending
on soil acidity
Environmentally-influenced
• Color of the Hydrangea flower determined by the
pH of the soil
• Acidic soil  blue flower

• Basic soil pink flower

Such characters are called multi-factorial because

genetic and environmental factors collectively
influence phenotype
 Genomic Imprinting
• That the parental origin of genetic material does
have an impact on gene expression - genomic
imprinting.
• Imprinted genes are either expressed only from the
allele inherited from the mother or in other instances
from the allele inherited from the father.
Genomic Imprinting: The differential expression of the two alleles
of a gene based on their parental origin, requires that the alleles be
distinguished or marked ------ DNA methylation.

• i.e., Genomic imprinting involves the silencing of certain

genes that are “stamped” with an imprint during gamete
production and affect only a small fraction of mammalian
genes
 (a) In Homozygotes for Normal Igf2 allele

• NB: Normal Igf2 allele produce a normal sized

mouse when expressed
Normal Igf2 allele
is expressed.
Paternal
chromosome
Maternal
chromosome Normal-sized mouse
Normal Igf2 allele (wild type)
is not expressed.

The gene is silenced (imprinted)

(b) In Heterozygotes: have both the normal and mutant allele
Mutant Igf2 allele Mutant Igf2 allele
inherited from mother inherited from father

Normal-sized mouse (wild type) Dwarf mouse (mutant)

Normal Igf2 allele Normal Igf2 allele

is expressed. is not expressed.

Mutant Igf2 allele Mutant Igf2 allele

is not expressed. is expressed.

NB: Mutant Igf2 allele produce a dwarf-sized mouse when expressed

 Genomic Imprint of Chromosome #15

• Genetic deletion on the q arm of

Chromosome #15 depends on
whose chromosome you got it from.

• If you got the deletion from Mom Angelman

Syndrome

• If you got it from Dad Prader-Willi

Syndrome.
• Angelman  Absence of
speech, mild to moderate
mental retardation, small
hands/feet, laugh a lot,
dancing gait so called
“Happy Puppet
Syndrome.”

• Prader-Willi  Severe
obesity, hyperactivity &
severe mental retardation
 Relationship among Description Example
alleles of a single gene

Complete dominance Heterozygous phenotype

of one allele same as that of homo- PP Pp
zygous dominant
Incomplete dominance Heterozygous phenotype
of either allele intermediate between
the two homozygous
phenotypes
CRCR CRCW CWCW
Codominance Both phenotypes
expressed in IAIB
heterozygotes
Multiple alleles In the whole population, ABO blood group alleles
some genes have more
than two alleles IA, IB, i

Pleiotropy One gene is able to affect Sickle-cell disease

multiple phenotypic
characters
Relationship among
Description Example
two or more genes

Epistasis The phenotypic BbEe BbEe

expression of one
gene affects that BE bE Be be
of another BE

bE

Be

be

9 :3 :4
Polygenic inheritance A single phenotypic
character is affected AaBbCc AaBbCc
by two or more genes
Inheritance genes located outside the nucleus:
(Inheritance of organelle genes)
• Extra nuclear genes (or cytoplasmic genes) are
found in organelles.

• Mitochondria, chloroplasts, and other plant plastids

carry small circular DNA molecules.

• Extra nuclear genes are inherited maternally

because the zygote’s cytoplasm comes from the
egg.
• NB: Mitochondrial chromosomes don’t recombine.
• Some defects in mitochondrial genes prevent cells
from making enough ATP and result in diseases
that affect the muscular and nervous systems:

– Mitochondrial myopathy – is a group of

neuromuscular diseases caused by damage to the
mitochondria

– Leber’s Hereditary Optic Neuropathy (LHON) - a

degeneration of retinal ganglion cells and their
axons that leads to an acute or sub-acute loss of
central vision.
Mitochondrial DNA
• Each cell contains
thousands of mito, each
containing copies of its
DNA

• Mito DNA is in larger

quantities in a cell

• Nuclear DNA is larger in

size
 Mt DNA is inherited from mom
• Every sibling will
get their mt DNA
from their mother
• Why?
Why from mother?

• Egg contains 23
chromosomes and cell
cytoplasm which
contains thousands of
maternal mito.

• Sperm contains 23
chromosomes with
very little cytoplasm
 Zygote = Fertilized Egg
• Once the sperm
enters the egg,
those sperm
mitochondria are
usually
destroyed.

• The zygote ends

up filled with
mitochondria
from the egg,
therefore the
zygote inherits
the maternal
mito DNA.
Mt DNA is 16,569 bp in length and consists of
2 different regions

• Coding Region:
– Produces 13 proteins, 22tRNAs, 2rRNAs needed
for cell respiration
– This region has very little variability
– So everyone’s DNA in this region will be nearly the
same sequence of TGCAs
• Control Region:
This region is highly variable within the human
population
 How can we use this information?
• We can compare DNA from the controlling region
to other living humans
– See how related to you are to each other
• Compare to prehistoric remains of human fossils
– Identify where your DNA originated
– Identify ancestral relationships between modern
populations
• Compare your highly variable regions to other
species
• Oldest woman who would have donated her mtDNA to
every ancestor in the world is Eve
• Comparisons can be made by how many variations exist
between her DNA and our DNA.
 Mitochondrial DNA and Migrations

 Because mitochondrial chromosomes don’t recombine

like nuclear chromosomes, and because they are
maternally inherited, mutations don’t spread laterally
through a population because of mating.
 Instead, they are passed, almost clonally, down
through subsequent generations, often becoming “fixed”
when small populations or individuals move to new
areas.
 Mitochondrial genetic markers are therefore the best
tools to follow human migrations that have taken place
over the millennia.
•But, mussels are unique among animals!!!

•Mytilus has two genetically different types of mitochondria

and in addition to maternal inheritance there is also paternal
inheritance!!!
Many human traits follow Mendelian
patterns of inheritance
• Humans are not good subjects for genetic
research
– Generation time is too long
– Parents produce relatively few offspring
– Breeding experiments are unacceptable –
UNETHICAL
– Pedigree Analysis is done with humans
• However, basic Mendelian genetics endures as
the foundation of human genetics
 Pedigree Analysis
• A pedigree is a family tree that describes the
interrelationships of parents and children across
generations.

• Inheritance patterns of particular traits can be traced and

described using pedigrees.

• Pedigrees can also be used to make predictions about

future offspring.

• We can use the multiplication and addition rules to predict

the probability of specific phenotypes
How to Construct a Pedigree?
• A Pedigree is a visual showing the pattern of
inheritance for a trait. (Family tree)

• Symbols and Rules:

• Male = Female =
• Affected = Unaffected = Carrier =
• Link parents together with a line and then make
a vertical line to connect to offspring.
Autosomal Dominant Pedigree
• Draw a Pedigree showing a cross between
Heterozygous parents that have 2 boys and 2
girls. (Show all possibilities)
Genotypes of Affected and Unaffected:
• AA and Aa = Affected aa = Unaffected

Aa Aa

aa Aa Aa AA
Autosomal Recessive Pedigree
• Draw a Pedigree showing a cross between
Heterozygous parents that have 2 boys and 2
girls. (Show all possibilities)
Genotypes of Affected and Unaffected:
• AA=Unaffected Aa=Carrier, Unaffected
aa=Affected

Aa Aa

aa Aa Aa AA
Sex-Linked Recessive Pedigree
• Draw a Pedigree showing a cross between a
Red eyed Male fruit fly and a Carrier Female fruit
fly which have 2 males and 2 females. (Show all
possibilities) Red is dominant to white.

• Genotypes of Parents:
• Male = XR Y Female = XR Xr

XR XRX
r
Y

XRY XrY XRX XRX

Maternal Inheritance Pattern with Mt DNA
 Pedigree Analysis
Key
Male Female Affected Affected Mating Offspring
male female

1st
generation Ff Ff ff Ff
1st
generation ww ww Ww
Ww 2nd
generation
2nd
generation FF or Ff ff ff Ff Ff ff
Ww ww ww Ww Ww ww 3rd
generation
3rd
generation ff FF
or
WW ww Ff
or
Ww

Widow’s No widow’s Attached Free

peak peak earlobe earlobe

(a) Is a widow’s peak a dominant or b) Is an attached earlobe a dominant

recessive trait? or recessive trait?
 The Behavior of Recessive Alleles
• Many genetic disorders are inherited in a recessive
manner, these range from relatively mild to life-
threatening.
• Recessively inherited disorders show up only in
individuals homozygous for the allele.

• Carriers are heterozygous individuals who carry the

recessive allele but are phenotypically normal; most
individuals with recessive disorders are born to carrier
parents.

• Albinism is a recessive condition characterized by a lack

of pigmentation in skin and hair
© 2011 Pearson Education, Inc.
 Albinism
Parents
Heterozygous Normal Normal
(normal) parents Aa Aa
(carriers)
Sperm
Gametes A a
Eggs
Aa
AA
A Normal
Normal
(carrier)
Offspring
Aa
Normal aa
a
(carrier) Albino
• If a recessive allele that causes a disease is rare,
then the chance of two carriers meeting and
mating is low.

• Consanguineous matings (i.e., matings between

close relatives) increase the chance of mating
between two carriers of the same rare allele.

• Most societies and cultures have laws or taboos

against marriages between close relatives.
 Sickle-Cell Disease
• Sickle-cell disease affects one out of 400
African-Americans
• The disease is caused by the substitution of a
single amino acid in the β-hemoglobin protein in
red blood cells (Glu with Val)
• In homozygous individuals, all hemoglobin is
abnormal (sickle-cell).
• Symptoms include physical weakness, pain,
organ damage, and even paralysis.
Fig. 14-UN1

• Heterozygotes (said to have sickle-cell trait) are

usually healthy but may suffer some symptoms.

• Heterozygotes are less susceptible to the

malaria parasite, so there is an advantage to
being heterozygous – Selection.
 Hemophilia is a sex-linked recessive trait defined by the
absence of one or more of the proteins required for blood clotting.
• Recessive mutations almost
always reduce or eliminate gene
function.
• Hypomorphic (partial loss-of-function, weak)
mutations reduce, but do not eliminate function.

• Amorphic (complete loss-of-function, null) mutations

eliminate gene function.
Dominantly Inherited Disorders
• Some human disorders are caused by dominant
alleles.

• Dominant alleles that cause a lethal disease are

rare and arise by mutation.

• Achondroplasia is a form of dwarfism caused

by a rare dominant allele, is lethal when
homozygous for the dominant allele.
 Achondroplasia

Parents
Dwarf Normal
Dd dd

Sperm

D d
Eggs
Dd dd
d Dwarf Normal

Dd dd
d Dwarf Normal
 PENETRANCE
• Penetrance: the percentage of individuals
having a particular genotype that express the
expected phenotype.
– The genotypes of the population have to be
known
– If 83 individuals out of 100 with genotype that
should produce a certain phenotype express the
phenotype the penetrance is 83%

• Polydactyly
 EXPRESSIVITY

• Expressivity: The degree to which a character is

expressed.
• Polydactyly again:
– Some express extra finger and tows that are
functional
– Others have small extra skin tags
 Lactose intolerance in humans
Lactose========>Glucose + Galactose
Lactase

• Human milk is 7% lactose.

• Lactose is not absorbed through the wall of the digestive
tract.
• In human infants, lactase is secreted in intestine which
breaks the lactose into easily absorbed Glucose and
Galactose.
• Production of the lactase enzyme declines in adults.
• The unabsorbed lactose creates cramps, diarrhea, and
nausea.
• In some humans, lactase continues to be produced
throughout adulthood.
• These individuals are called lactose absorbers.
Lactose intolerance in humans cont.

• Adult lactose absorption is inherited as an

autosomal dominant trait.
• Lactose persistence and non-persistence reflect
inheritence of different alleles of the lactase gene.
• Lactose intolerance is the result of being
homozygous for the recessive lactase (WT) allele
• Being homozygous or heterozygous for the
mutant allele allows lactase expression in adults
when normally lactase expression is turned off.
 Additional Factors at a Single Locus Can
Affect the Results of Genetic Crosses

• A lethal allele: causes death at an early stage of

development, and so some genotypes may not
appear among the progeny.

Yellow coat and the allele for it

– Yellow is dominant Y
– Viable in heterozygous Yy
– Lethal In homozygous YY
 Huntington’s Disease: A Late-Onset Lethal Disease
• The timing of onset of a disease significantly
affects its inheritance.

• Huntington’s disease is a degenerative disease

of the nervous system.

• The disease has no obvious phenotypic effects

until the individual is about 35 to 40 years of age.

• Once the deterioration of the nervous system

begins the condition is irreversible and fatal
 Multifactorial Disorders
• Many diseases, such as heart disease,
diabetes, alcoholism, mental illnesses, and
cancer have both genetic and environmental
components.

• Little is understood about the genetic

contribution to most multifactorial diseases
 Genetic Testing and Counseling
• Counseling Based on Mendelian Genetics and
Probability Rules.

• Genetic counselors can provide information to

prospective parents concerned about a family history
for a specific disease.

• Using family histories, genetic counselors help couples

determine the odds that their children will have genetic
disorders.
• For a growing number of diseases, tests are available that identify
carriers and help define the odds more accurately
 Fetal Testing
• In amniocentesis, the liquid that bathes the fetus
is removed and tested
• In chorionic villus sampling (CVS), a sample of
the placenta is removed and tested
• Other techniques, such as ultrasound and
fetoscopy, allow fetal health to be assessed
visually in utero.
--------------------------------------------------------------
• Newborn Screening: Some genetic disorders can be
detected at birth by simple tests that are now routinely
performed in most hospitals in the United States

© 2011 Pearson Education, Inc.

What letter or number do you see?
Light-sensitive opsin
proteins made in the eye
& needed for color vision
are encoded by a cluster
of genes on the X
chromosome.
Mutations in these genes
can lead to an
insensitivity to certain
colors (like red and green)
when seen together
(“color vision deficiency”)
 Sex-influenced Traits
• Aka, “Gender-influenced”
• Usually influenced by sex hormones like
estrogen, testosterone
• Examples include baldness in humans,
plumage in birds, horns on cattle