Mendel and the Gene Idea

Gregor Mendel: The Man

Austrian monk
Began breeding
peas in 1857 to
study inheritance
Kept very accurate
records of his
laboratory work
and used very
large sample sizes

Why Peas?

Available in many varieties

Flower

color, seed color, flower position,

pod color, seed shape, pod shape, stem
length

Mendel could control which plants

mated with which
Peas grow quickly!

Mendels Findings

Alternative versions of genes

(different alleles) account for
variations in inherited characters
The

gene for flower color (example)

exists in two versions purple and
white
Each version is called an allele

Mendels Findings

For each
characteristic, an
organism inherits
two alleles, one
from each parent

An allele is a part of
a chromosome
Each parent
contributes one
chromosome of each
homologous pair

Mendels Findings

If the two alleles differ, then one,

the dominant allele, is fully
expressed in the organisms
appearance; the other, the
recessive allele, has no noticeable
effect on the organisms
appearance.

Mendels Findings

The two alleles for each

trait segregate during
gamete production.

An egg cell or sperm cell

receives only one allele
Each parent passes on only
one of his/her 2 alleles
This is Mendels

Law of Segregation

Some Terminology

Punnett Square:
A

diagram used to predict the results of a genet

cross

Homozygous vs. Heterozygous:

Homozygous/pure:

identical alleles (HH or hh)

Heterozygous/hybrid: different alleles (Hh)

Genotype vs. Phenotype:

Genotype:

genetic makeup (Tt)

Phenotype: physical appearance (tall)

Law of Independent Assortment

Each pair of alleles segregates into

gametes independently
Just

because an organism gets one allele

doesnt mean it will get a certain other
one
Example:

Blonde hair does not HAVE to go with blue

eyes

EXCEPTION: LINKED GENES

The Rule of Multiplication

To determine the chance that two or more

independent events will occur together
in a specific combination, compute the
probability for each independent event and
then multiply the individual
probabilities to get the overall probability
Example: Rolling two dice and rolling a 3 on
each

1/6 X 1/6
1/36

The Rule of Addition

The probability of an event that

can occur in two or more
different ways is the sum of the
separate possibilities of those ways
Rolling an odd number using a dice:
1/6

+ 1/6 + 1/6 = 3/6 (or )

Incomplete Dominance

F1 hybrid is
intermediate
between the two
parents
1:2:1 ratio
red: pink: white

Codominance

Both alleles are separately

manifested in the phenotype
Example:

Horses

Brown hairs
Black hairs
Brown and Black hairs

Multiple Alleles

Genes that exist in more than two

allelic forms
Example: ABO Blood Typing
IAIA,

IA i
IBIB, IBi
IAIB
ii

Pleiotropy

The ability of a gene to affect an

organism in many ways
Example:
Alleles

that cause sickle-cell anemia

also cause other symptoms
Cystic Fibrosis- one point mutation but
it impacts the lungs, digestive tract and
other parts of the body (thickens
mucus layers)

Epistasis

A gene at one locus

(location) alters the
phenotypic
expression of a
gene at another
locus (location)
BB/Bb/bb
determines coat
colorBUT
CC/Cc/cc
determines pigment
or not

Polygenic Inheritance

Many characteristics, including human

skin color and height, vary along a
continuum among the population
Polygenic inheritance is the effect of
two or more genes put together on a
single phenotypic characteristics
Example: Height determined by 3 genes

AABBCC: very tall person (62)

aabbcc: very short person (411)
AaBbCc: intermediate height person (55)

Pedigrees

A pedigree is a family tree that shows the

interrelationships of parents and children across
the generations
Used to predict patterns in the future (risk
assessment)

Recessive Genetic Disorders

Cystic Fibrosis (cc)

Recessive

disorder; most common in

Caucasians
Cc (carrier)

Tay-Sachs Disease (tt)

Recessive

disorder; most common in

Ashkenazi Jews

Sickle-Cell Anemia (aa)

Recessive

disorder; most common

among African-Americans

Societal Factors

The prevalence of recessive genetic

disorders greatly increases when
closely-related relatives interbreed
This is why many countries and
cultures have laws against
intermarriage among close relatives
(cousins, etc.)

Dominant Genetic Disorders

Dwarfism:
DD

or Dd = dwarf phenotype

Huntingtons Disease:
Aa

or AA
Current research can now tell us
whether or not a person has
Huntingtons before symptoms set in
Ethical dilemma??

Drosophila Melanogaster

Thomas Hunt Morgan, Columbia University

His experiments with fruit flies (D.
melanogaster) confirmed that Mendels
heritable factors () are located on
chromosomes
Why fruit flies?
Quick-breeding (2 weeks)
Produce many offspring (hundreds!)
Have only 4 pairs of chromosomes

3 pairs of autosomes, 1 pair of sex chromosomes

Morgans Experiments

Wild Type vs. Mutant Phenotypes

Wild type:

Mutant phenotype:

normal phenotype for a

character/trait
Examples: red eyes
Symbolized by w+ (example)
traits that are alternative to the
wild type
Example: white eyes
Symbolized by w (example)

Note:

Gene symbols are taken from the

first mutant discovered
Wild-type is not always dominant
over mutant; it can be the other
way around!

Sex-Linked Genes

Genes located on a sex chromosome (X or Y in humans)

are called sex-linked genes
Morgan mated a white-eyed male with a red-eyed female
All F1 offspring had red eyes
Concluded that wild type (red eyes) is dominant
F2 generation was 75% red:25% white (classic ratio)
but white-eye showed up in males ONLY
Morgan concluded that the gene for eye color is located
only on the X chromosome
Since red is dominant (w+) over white (w), females
would need 2 w+ alleles to have white eyes, while males
would need only one

Linked Genes

Definition:

Genes located on the same chromosome that tend to be inherited

together in genetic crosses because they are part of a single
chromosome that is passed along as a unit.

Thomas Hunt Morgans example:

Wild Type

Body Color

b+ = gray

Wing Size

vg+ = normal
wings

Mutant
b = black
vg = vestigial
wings

Morgan observed that there were disproportionate numbers of

wild-type (gray-normal wings), and double mutant (black-vestigial
wings) flies among the offspring

These were the phenotypes of the original parents

This is because the genes for body color and wing size are located on
the same chromosome in fruit flies and are therefore usually inherited
together

Genetic Recombination

Recombination of Unlinked Genes:

50% frequency of recombination is observed for
any 2 genes that are located on different
chromosomes
Basis for Recombination:

Random alignment of homologous chromosomes

during metaphase I of meiosis (independent
assortment)

Genetic Recombination

Recombination of Linked Genes:

Linked

genes do NOT assort

independently because they are located
on the same chromosome and tend to
move together through meiosis and
fertilization
But how does genetic recombination occur
at all then??

Crossing over between homologous

chromosomes during prophase I of meiosis!

Genetic Maps

By studying recombination
data, it is possible to
create genetic maps
If two genes are far apart
on a chromosome there is
a higher probability that a
crossover event will
separate them than if the
two genes are close
together
Linkage maps show the
sequence of genes along a
chromosome

Sex-Linked Disorders in Humans

In addition to determining sex, sex

chromosomes contain many genes that
determine traits that are unrelated to sex
Far more males have sex-linked genetic
disorders XY vs. XX
A

female must inherit the recessive allele (if

it is a recessive disorder) from BOTH parents
in order to exhibit it
A male must only inherit the recessive allele
from one of his parents in order to exhibit it

Sex-Linked Disorders in Humans

Color blindness
Duchenne muscular dystrophy
1/3500 males in US
Progressive weakening of the muscles and loss
of coordination

Hemophilia:
Sex-linked recessive trait defined by the absence
of a certain protein required for blood clotting
Prolific in royal families of Europe
(intermarriage)

Alterations of Chromosome Number

During meiosis, nondisjunction

occasionally occurs
The

members of a pair of a homologous

chromosomes do not move apart properly
during meiosis I
OR
Sister chromatids fail to separate during
meiosis II

The other chromosomes are usually

distributed normally

Alterations of Chromosome Number