MENDELIAN GENETICS

What is genetics?
The study of how traits are inherited
or how genetic information is passed
from one generation to the next.
It also explains biological variation

Gregor Mendel
1850s Grew up in a farm wanting to garden
Austrian monk (Flunked out of college twice) but
became a mathematician

Experimented with garden pea plants

Using pea plants looked at seven different
characters (height of plants, seed color, texture,
flower color) and found evidence of how
parents transmit genes to offspring
Mendels statistical analysis provided a model
for predicting what the next generation would
be like

What was the prevalent believe about

inheritance before Mendel?
People believed in spontaneous generation and
in the blending of characters
Blending theory
Problem:
Would expect variation to disappear
Variation in traits persists

Ex: Yellow and green parakeets should have all blue

babies. This is not what you observe.

The gene theory

An alternative idea is the gene idea.
Parents pass on discrete individual heritable
units: genes

 Experimental genetics began in an abbey

garden
Modern genetics
Began with Gregor Mendels quantitative
experiments with pea plants
Petal

Stamen

Figure 9.2 A

Carpel

Figure 9.2 B

The Garden Pea Plant

Mendel chose to work with the pea
plant because he could control which
plant mated with which. Pea plants are
Self-pollinating
True breeding (different alleles not
normally introduced)
Can be experimentally cross-pollinated

 Mendel crossed pea plants that differed in certain

characteristics
And traced traits from generation to generation
Mendel started his experiments with plants that were true
breeding.
1 Removed stamens
from purple
flower

White

2 Transferred
pollen from stamens
of white flower to
carpel of purple flower
Stamens
Carpel
Parents
(P)

Purple
3 Pollinated carpel
matured into pod

4 Planted seeds
from pod

Offspring
(F1)

Figure 9.2 C

 Mendel hypothesized that there are alternative

forms of genes
The units that determine heritable traits
Flower color

White

Axial

Terminal

Seed color

Yellow

Green

Seed shape

Round

Wrinkled

Pod shape

Inflated

Constricted

Pod color

Green

Yellow

Tall

Dwarf

Flower position

Stem length

Figure 9.2 D

Purple

Mendels Principles of Genetics

Mendel refuted the blending theory of

heredity and provided an explanation of how
inheritance works without knowing anything
about chromosomes or genes.

1. He figured that traits must be coded for by

some kind of inheritable particle which he
called factors and now we call genes.
2. He said that those genes were
transmitted as independent entities
from one generation to the next.

Mendels insight continued

4. He figured that the two alleles a parent has

are separated into different cells when
gametes (sex cells) are formed. This actually
happens during metaphase of meiosisI ( no one knew
about meiosis in those days).

This is known as the Law of Segregation

What are alleles?
Different versions of the same gene

Mendels Theory
of Segregation
An individual inherits a unit of information
(allele) about a trait from each parent
During gamete formation, the alleles
segregate from each other

 Mendels law of segregation

Predicts that allele pairs separate from each other
during the production of gametes
P plants

Genetic makeup (alleles)

pp
PP
Gametes
All p

All P

F1 plants
(hybrids)

All Pp
1
P
2

Gametes

1
p
2

Sperm
P
F2 plants Phenotypic ratio
3 purple : 1 white

Genotypic ratio
1 PP : 2 Pp: 1 pp

Figure 9.3 B

PP

Pp

Pp

pp

Eggs

Mendels law of segregation describes the

inheritance of a single characteristic
From his experimental data
Mendel deduced that an organism has two genes
(alleles) for each inherited characteristic
P generation
(true-breeding
parents)

Purple flowers

F1 generation

White flowers

All plants have

purple flowers

Fertilization
among F1 plants
(F1 F1)

F2 generation
3
4

of plants
have purple flowers

Figure 9.3 A

1
4

of plants
have white flowers

What is a dominant trait?

The trait that shows, the allele that is fully
expressed

What is a recessive trait?

The alleles that is masked, the gene is there
but it doesnt show

What is the phenotype?

The observable traits

What is the genotype?

The genetic make up

 If the two alleles of an inherited pair differ

Then one determines the organisms appearance and is
called the dominant allele ( use capital letters)

The other allele

Has no noticeable effect on the organisms appearance
and is called the recessive allele

Vocabulary
When you mate two contrasting true
breeding plants you get a Hybrid.
The true breeding parents are called the P
(parent) generation
The hybrid offspring of the P generation are
called the F1 generation
When two F1 individuals self pollinate you
get the F2 generation

F1 Results of One Monohybrid

Cross

F2 Results of
Monohybrid Cross

Mendels
Monohybrid
Cross Results
F2 plants showed
dominant-torecessive ratio
that averaged 3:1

5,474 round

1,850 wrinkled

6,022 yellow

2,001 green

882 inflated

299 wrinkled

428 green

152 yellow

705 purple

224 white

651 long
stem

207 at tip

787 tall

277 dwarf

Punnett Square of a Monohybrid

Cross
Female gametes
A
Male
gametes

AA

Aa

Aa

aa

Dominant
phenotype can
arise 3 ways,
recessive only
one

A Test cross
In a pea plant with purple flowers the
genotype is not obvious. Could be
homozygous or heterozygous
Why do a test cross?
It allows us to determine the genotype of an
organism with a dominant phenotype but
unknown genotype

Test Cross
You cross an individual that shows the dominant
phenotype with an individual with recessive
phenotype ( one who is homozygous recessive for
that trait)
Examining offspring allows you to determine the
genotype of the dominant individual

Punnett Squares of
Test Crosses

Homozygou
s
recessive
a
a

Homozygous
recessive
a
a

Aa

Aa

Aa

Aa

aa

aa

Aa

Aa

Two phenotypes

All dominant phenotype

Geneticists use the testcross to determine unknown

genotypes
The offspring of a testcross, a mating between an individual
of unknown genotype and a homozygous recessive individual
Can reveal the unknowns genotype

Testcross:
Genotypes

bb

B_

Two possibilities for the black dog:

BB
Gametes

Offspring

Bb

b
Figure 9.6

or

Bb
All black

Bb

bb

1 black : 1 chocolate

Homologous chromosomes bear the two

alleles for each characteristic
Alternative forms of a gene
Reside at the same locus on homologous
chromosomes
Dominant
allele

Gene loci
P

b
Recessive
allele

Genotype:

Figure 9.4

PP

aa

Homozygous
for the
dominant allele

Homozygous
for the
recessive allele

Bb
Heterozygous

Web sites to check

http://gslc.genetics.utah.edu/units/basics/to
ur/inheritance.swf
http://science.nhmccd.edu/biol/genetics.html

http://library.thinkquest.org/20465/games.h
tml

Mendels two Laws

1. Law of segregation
The two alleles for a trait segregate during gamete
formation and only one allele for a trait is
carried in a gamete. The gametes combine at
random
(In other words:A cell contains two copies of a particular
gene, they separate when a gamete is made).

2. Law of Independent Assortment

Alleles from one trait behave independently from
alleles for another trait. Traits are inherited
independently from one another

Independent Assortment
Mendel concluded that the two units for
the first trait were to be assorted into
gametes independently of the two units
for the other trait
Members of each pair of homologous
chromosomes are sorted into gametes at
random during meiosis

 The law of independent assortment is

revealed by tracking two characteristics at
once
By looking at two characteristics at once
Mendel tried to determine how two
characteristics were inherited

 Mendels law of independent assortment

States that alleles of a pair segregate independently of
other allele pairs during gamete formation

P generation

Hypothesis: Dependent assortment

RRYY
rryy

Hypothesis: Independent assortment

RRYY

ry

Gametes RY

ry

Gametes RY

RrYy

RrYy

F1 generation

Sperm

Sperm
1
2 RY

1
2 ry

1
RY
2

F2 generation
Eggs

1
ry
2

Actual results
contradict hypothesis

Figure 9.5 A

rryy

1
1 ry
RY
4
4
1
RY
4
1
ry
4
Eggs
1
Ry
4
1
ry
4

1
RY
4

1 ry
4

RRYY

RrYY RRYy RrYy

RrYY

rrYY

RrYy

rrYy

RRYy

RrYy

RRyy

Rryy

RrYy

rrYy

Rryy

rryy

Actual results
support hypothesis

9
16
3
16
3
16
1
16

Yellow
round
Green
round
Yellow
wrinkled
Green
wrinkled

 An example of independent assortment

Blind

Blind

Phenotypes
Genotypes

Black coat, normal vision

B_N_

Mating of heterozygotes
(black, normal vision)
Phenotypic ratio
of offspring
Figure 9.5 B

9 black coat,
normal vision

Black coat, blind (PRA) Chocolate coat, normal vision Chocolate coat, blind (PRA)
B_nn
bbN_
bbnn

BbNn
3 black coat,
blind (PRA)

BbNn
3 chocolate coat,
normal vision

1 chocolate coat,
blind (PRA)

A Dihybrid Cross - F1 Results

purple
flowers,
tall

TRUEBREEDING
PARENTS:

AABB
GAMETES:

AB

AB

white
flowers,
dwarf
aabb

ab

ab

AaBb
F1 HYBRID
OFFSPRING:

All purple-flowered, tall

16 Allele
Combinations in F2
1/4
AB
1/4
Ab
1/4
aB
1/4
ab

1/4
AB

1/4
Ab

1/4
aB

1/4
ab

1/16

1/16

1/16

1/16

AABB AABb AaBB AaBb

1/16

1/16

1/16

1/16

AABb AAbb AaBb Aabb

1/16

1/16

1/16

1/16

AaBB AaBb aaBB aaBb

1/16

1/16

1/16

1/16
AaBb Aabb aaBb aabb

Phenotypic Ratios in F2
AaBb

AaBb

Four Phenotypes:
Tall, purple-flowered

(9/16)

Tall, white-flowered (3/16)

Dwarf, purple-flowered

(3/16)

Dwarf, white-flowered

(1/16)

Explanation of Mendels
Dihybrid Results
If the two traits
are coded for by
genes
on separate
chromosomes,
sixteen gamete
combinations are
possible

1/4
AB
1/4
Ab
1/4
aB
1/4
ab

1/4
AB

1/4
Ab

1/4
aB

1/4
ab

1/16

1/16

1/16

1/16

AABB AABb AaBB AaBb

1/16

1/16

1/16

1/16

AABb AAbb AaBb Aabb

1/16

1/16

1/16

1/16

AaBB AaBb aaBB aaBb

1/16

1/16

1/16

1/16
AaBb Aabb aaBb aabb

 Mendels laws reflect the rules of

probability
Inheritance follows the rules of probability

 The rule of multiplication

Calculates the probability of two independent events

The rule of addition

Calculates the probability of an event that can occur in

alternate ways

F1 genotypes

Bb male
Formation of sperm

Bb female
Formation of eggs
1
2

1
2

1
2

1
4
B

b
1
4

1
4

F2 genotypes

Figure 9.7

1
2

b
1
4

Genetic traits in humans can be tracked

through family pedigrees
The inheritance of many human traits
Follows Mendels laws

Dominant Traits

Recessive Traits

Freckles

No freckles

Widows peak

Straight hairline

Free earlobe

Attached earlobe

Figure 9.8 A

 Family pedigrees
Can be used to determine individual genotypes

Dd
Joshua
Lambert

D?
John
Eddy

Dd
Abigail
Linnell

dd
Jonathan
Lambert

D?
Abigail
Lambert

Dd

Dd

dd

D?
Hepzibah
Daggett

Dd
Elizabeth
Eddy

Dd

Dd

Dd

dd

Female Male
Deaf
Hearing
Figure 9.8 B

 Recessive Disorders

Most human genetic disorders are recessive

Parents

Normal
Dd

Normal
Dd

Sperm
D

Offspring

Dd
Normal
(carrier)

Eggs

Figure 9.9 A

DD
Normal

Dd
Normal
(carrier)

dd
Deaf

VARIATIONS ON MENDELS
LAWS
The relationship of genotype to phenotype is rarely simple
Mendels principles are valid for all sexually reproducing
species
But genotype often does not dictate phenotype in the simple way his
laws describe

Genetics is not as simple as Gregor Mendel concluded,

(one gene, one trait).

We know now that there is a range of dominance and

that genes can work together and interact.
Incomplete dominance:
When the F1 generation have an appearance in between the
phenotypes of the parents.
Ex: pink snapdragons offspring of red and white ones.
Another way to say it is
In incomplete dominance
Heterozygote phenotype is somewhere between that of two
homozygotes

Flower Color in Snapdragons:

Incomplete Dominance
Red-flowered plant X White-flowered plant

(homozygote)

(homozygote)

Pink-flowered F1 plants

(heterozygotes)

Incomplete dominance in snapdragon color

Flower Color in Snapdragons:

Incomplete Dominance
Red flowers - two alleles allow them to
make a red pigment
White flowers - two mutant alleles; cant
make red pigment
Pink flowers have one normal and one
mutant allele; make a smaller amount of red
pigment

Flower Color in Snapdragons:

Incomplete Dominance
Pink-flowered plant X Pink-flowered plant
(heterozygote)
(heterozygote)
White-, pink-, and red-flowered plants
in a 1:2:1 ratio

Incomplete dominance in carnations

Co-Dominance or multiple alleles:

Codominance
Non-identical alleles specify two phenotypes
that are both expressed in heterozygotes

Having more than 2 alleles for a given trait

and both alleles show in the phenotype. No
single one is dominant over the other.

Example: ABO blood types

Genetics of ABO Blood Types:

Three Alleles
Gene that controls ABO type codes for
enzyme that dictates structure of a
glycolipid on blood cells
Two alleles (IA and IB) are codominant when
paired
Third allele (i) is recessive to others

ABO blood types

 The ABO blood type in humans

Involves three alleles of a single gene

The alleles for A and B blood types are codominant

And both are expressed in the phenotype

Blood
Group
(Phenotype)

Figure 9.13

Genotypes

Antibodies
Present in
Blood

ii

Anti-A
Anti-B

IAIA
or
IAi

Anti-B

IBIB
or
IBi

Anti-A

AB

IAIB

Reaction When Blood from Groups Below Is Mixed with

Antibodies from Groups at Left
O

AB

Multiple alleles for the ABO blood groups

More exceptions to the dominant/recessive rule

Pleiotropy:
One genes having many effects. Only one gene affects an
organism in many ways.
Ex: sickle cell anemia and cystic fibrosis

Pleiotropy
Alleles at a single locus may have effects on
two or more traits
Classic example is the effects of the mutant
allele at the beta-globin locus that gives rise
to sickle-cell anemia

 A single gene may affect many phenotypic

characteristics
In pleiotropy
A single gene may affect phenotype in many ways
Individual homozygous
for sickle-cell allele

Sickle-cell (abnormal) hemoglobin

Abnormal hemoglobin crystallizes,
causing red blood cells to become sickle-shaped

Clumping of cells
and clogging of
small blood vessels

Breakdown of
red blood cells

Physical
weakness

Anemia

Impaired
mental
function

Figure 9.14

5,555

Sickle cells

Heart
failure

Paralysis

Pain and
fever

Pneumonia
and other
infections

Accumulation of
sickled cells in spleen

Brain
damage

Damage to
other organs

Rheumatism

Spleen
damage

Kidney
failure

Genetics of Sickle-Cell Anemia

Two alleles
1) HbA
Encodes normal beta hemoglobin chain
2) HbS
Mutant allele encodes defective chain

HbS homozygotes produce only the

defective hemoglobin; suffer from sicklecell anemia

Pleiotropic effects of the sickle-cell allele in a homozygote

Epistasis:
Interaction between the products of gene
pairs
Interaction between two genes in which one
of the genes modifies the expression of
the other.
Ex: fur /hair color in mammals and albinism

Albinism
Phenotype results when pathway for
melanin production is completely blocked
Genotype - Homozygous recessive at the
gene locus that codes for tyrosinase, an
enzyme in the melanin-synthesizing
pathway

Genetics of Coat Color in

Labrador Retrievers
Two genes involved
- One gene influences melanin production
Two alleles - B (black) is dominant over b (brown)

- Other gene influences melanin deposition

Two alleles - E promotes pigment deposition and is
dominant over e

Allele Combinations
and Coat Color
Black coat - Must have at least one
dominant allele at both loci
BBEE, BbEe, BBEe, or BbEE

Brown coat - bbEE, bbEe

Yellow coat - Bbee, BbEE, bbee

An example of epistasis

Human Variation
Some human traits occur as a few discrete
types
Attached or detached earlobes
Many genetic disorders

Other traits show continuous variation

Height
Weight
Eye color

More modifications to Mendels rule

Polygenic Inheritance:
In this case many genes have an additive effect.
The characteristic or trait is the result of the
combined effect of several genes. Ex: human
skin color, height. Controlled by more than one
pair of genes

Continuous Variation
Polygenic inheritance results in a
continuous range of small differences in a
given trait among individuals
The greater the number of genes that affect
a trait, the more continuous the variation in
versions of that trait

A simplified model for polygenic inheritance of skin color

Environmental effects:
The degree to which an allele is expressed
depends on the environment
Ex: Siamese cat fur color ( enzyme for
melanin production inhibited by heat),
hydrangea flowers ( depends on acidity of
soil), height (nutrition)

Temperature Effects
on Phenotype
Himalayan rabbits are
Homozygous for an allele that
specifies a heat-sensitive
version of an enzyme in
melanin-producing pathway
Melanin is produced in cooler
areas of body

Environmental Effects on Plant

Phenotype
Hydrangea macrophylla
Action of gene responsible for floral color
is influenced by soil acidity
Flower color ranges from pink to blue

The effect of environment of phenotype

Web sites to check

http://gslc.genetics.utah.edu/units/basics/to
ur/inheritance.swf
http://science.nhmccd.edu/biol/genetics.html

http://library.thinkquest.org/20465/games.h
tml

Thomas Hunt Morgan (1910) and Sex Linked

Inheritance
Morgans Experimental Evidence: Scientific Inquiry

The first solid evidence associating a specific

gene with a a specific chromosome came from
Thomas Hunt Morgan
Morgans experiments with fruit flies (Columbia
University, 1910) provided convincing evidence that
chromosomes are the location of Mendels
heritable factors. He provided confirmation of
the correctness of the chromosomal theory of
inheritance.

 Morgans experiments

Experiment

Demonstrated the role

of crossing over in
inheritance

Black body,
vestigial
wings

Gray body,
long wings
(wild type)

GgLI

ggll
Male

Female

Offspring
Gray long

Black vestigial

Gray vestigial

Black long

965

944

206

185

Parental
phenotypes

Recombinant
phenotypes
391 recombinants

Recombination frequency =

Explanation
GgLI
(female)

G L

2,300 total offspring

G L

g l

g l

g l

g l

Gl

gL

Eggs
G L
g l

ggll
(male)

g l

Sperm

g l
g l
Offspring

Figure 9.20 C

= 0.17 or 17%

G l
g l

g L
g l

 Thomas Hunt Morgan

Performed some of the early studies of crossing
over using the fruit fly Drosophila melanogaster

Figure 9.20 B

 In Drosophila
White eye color is a sex-linked trait

Figure 9.23 A

SEX LINKED INHERITANCE

CHROMOSOMES
Humans have 22 pairs of AUTOSOMES and one
pair of SEX CHROMOSOMES : total=23 prs
Thomas Morgan discovered SEX LINKED
INHERITANCE studying Drosophila (fruit fly)
In fruit flies red eyes is the wild type and white
eyes is a mutant. He noticed the connection
between gender and certain traits. Only the male
flies had mutant white eyes.

SEX LINKED TRAITS ARE THOSE

CARRIED BY THE X CHROMOSOME
Red-Green color blindness
Inability to see those colors. Red and green look all
the same ,like gray
Hemophilia Blood clotting disorder.
The clotting factor VIII is not made, individual can
bleed to death.
Muscular dystrophy
X linked recessive, gradual and progressive
destruction of skeletal muscles .
Faulty teeth enamel
Extremely rare, X linked Dominant

Sex-linked genes exhibit a unique pattern of

inheritance
All genes on the sex chromosomes
Are said to be sex-linked

In many organisms
The X chromosome carries many genes unrelated to sex

 new technologies can provide insight into

ones genetic legacy
New technologies
Can provide insight for reproductive decisions

 Identifying Carriers
For an increasing number of genetic disorders
Tests are available that can distinguish carriers of genetic
disorders

 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

 Fetal Testing

Amniocentesis and chorionic villus sampling (CVS)

Allow doctors to remove fetal cells that can be tested for genetic
abnormalities
Chorionic villus sampling (CVS)

Amniocentesis
Needle inserted
through abdomen to
extract amniotic fluid

Ultrasound
monitor

Fetus

Suction tube inserted

through cervix to extract
tissue from chorionic villi

Fetus

Placenta
Uterus

Ultrasound
monitor

Placenta
Chorionic
villi

Cervix

Cervix
Uterus

Amniotic
fluid

Centrifugation
Fetal
cells

Fetal
cells

Several
weeks

Figure 9.10 A

Biochemical
tests

Karyotyping

Several
hours

 Ethical Considerations
New technologies such as fetal imaging and testing
Raise new ethical questions

Mutations
Mutations are permanent changes in DNA
Causes?
Errors in DNA replication that can be spontaneous.
Also caused by high energy radiation (X rays,
gamma rays),toxic chemicals in the environment
( pesticides,asbestos, tar) and viruses.

MUTATION: A PERMANENT CHANGE IN THE DNA.

When it happens in the gametes it is inheritable. Some
mutations are lethal but most are harmless. Mutations are
very important because it creates DIVERSITY
WHAT CAUSES MUTATIONS?
Most mutations are spontaneous, changes in DNA caused
by errors in replication ( the DNA is copied incorrectly
during cell division). The cell has mechanism to find and
correct mistakes but those that get through get passed
along.
Some mutations can cause genetic disorders.
Some environmental factors can cause molecular changes
in DNA.
X rays, toxic chemicals (insecticides, fertilizers, dry
cleaning fluids, tar), some viruses, high energy radiation.

 Many inherited disorders in humans are controlled

by a single gene
Some autosomal disorders in humans

Table 9.9

DISORDERS RESULTING FROM AUTOSOMAL

RECESSIVE INHERITANCE
These are conditions in which the gene that is defective is
recessive.
It is only expressed when the child receives both recessive genes
for the disorder (one from each parent)
If a person is heterozygous, that is it has one dominant regular
gene and one recessive abnormal gene for the condition, he will
be a CARRIER but not have the disorder. The dominant allele
will mask the expression of the abnormal condition.

EXAMPLES:

ALBINISM:
SICKLE CELL ANEMIA:
CYSTIC FIBROSIS:
TAY- SACHS DISEASE;
PHENYLKETONURIA;
GALACTOSEMIA:

DISORDERS RESULTING FROM RECESSIVE

INHERITANCE
Many not life threatening traits are inherited this way.
widows peak, and attached earlobes.

ALBINISM: No pigmentation in skin This is

also an example of EPISTASIS(one pair of
genes modifies the expression of another)
SICKLE CELL ANEMIA: This is also an
example of PLEIOTROPY
Red blood cells curved shape. Decreased oxygen
to brain and muscles (offers resistance to
Malaria)

DISORDERS RESULTING FROM RECESSIVE

INHERITANCE
CYSTIC FIBROSIS: Excessive mucus secretions.Impaired lung
function, lung infections. Protein channel that transport chloride
across cell membrane does not function. Protects against cholera.
This is also an example of PLEIOTROPY

TAY SACHS DISEASE: Nervous system degeneration in

infants. Enzyme fails to breakdown lipids which accumulate in
nerve cells and kills the cells. Progressive degeneration starting
with the brain cells.

DISORDERS RESULTING FROM RECESSIVE

INHERITANCE

GALACTOSEMIA: Produces brain, liver,

eye damage. Enzyme that breaks down
lactose is lacking. It accumulates to toxic
levels. Death in infancy

PHENYLKETONURIA: Results in mental

retardation

Disorders resulting from Autosomal

Dominant Inheritance
Dominant genes: Many are harmless for
example:freckles, dimples, cleft chin, free
earlobe, short big toe, tongue rollers, left
thumb on top, curly hair and dark hair
Dominant traits appear in each generation
since the allele shows in the heterozygous
individual.

 Dominant Disorders
Some human genetic disorders are dominant

Figure 9.9 B

Disorders resulting from Dominant

Inheritance
Acondroplasia or dwarfism:
A condition where the bone does not grow properly and
cant make proper cartilage. Person is less than 4 feet
with short arms and legs but a regular size trunk.
Cholesterolemia:
High cholesterol levels in the blood causing arteries to
clog and high incidence of early heart attacks.
Marfan Syndrome:
Abnormal connective tissue

Disorders resulting from Autosomal Dominant

Inheritance
Huntingtons Disorder:
Progressive degeneration of nervous system and muscle
control. Affects motor and mental abilities and it is
irreversible. Late onset, usually late 30s. Usually the
person already had children.
Progeria:
Premature accelerated aging. Usually dead by 18. Genes that
bring about growth and development are abnormal.
Polydactily:
Extra toes and fingers

Karyotype
A karyotype is a visual display of an individuals
chromosomes. A man made picture of a persons 23
pairs of chromosomes. ( the photo is taken during
metaphase when the sister chromatids are lined up
together)
It is useful in sex determination and diagnosis of
certain conditions.

INHERITED DISORDERS DUE TO

CHROMOSOMES CHANGES

Chromosome changes can cause a lot of

genetic disorders as well as a lot of variety
WHEN AND HOW CAN A CHROMOSOME
CHANGE?
Mistakes in replication. During the S phase of the
cell cycle segments of a chromosome could be
deleted, duplicated, inverted or moved to a new
location. Also during Metaphase I (meiosis) there
can be improper separation after duplication. This
can change the total number of chromosomes in
each gamete of the new individual.

 If during meiosis the paired chromatids fail to

separate correctly this is called NONDISJUNCTION
ANEUPLOIDY means an abnormal number of
chromosomes.
When an individual ends up with the wrong
number of chromosomes most of the time it is
miscarried ( spontaneous abortion).
The wrong number of somatic chromosomes are
almost always lethal. Ex: trisomy 21(three chrom.
21): Down Syndrome
You can live with the wrong number of sex pair
chromosomes.

CHANGES IN THE NUMBER OF SEX

CHROMOSOMES
X Turner syndrome One X instead of a pair.
This happens because of non disjuction of sperm.
Most are aborted spontaneously. If they live, she is
very short, infertily and with reduced sex
characteristics.
XXY Klinefelter syndrome One in 500 live
male births. Taller than average, infertile, some
low intelligence, some normal. Testosterone
injections help.
XYY super male about 1 in 1000. taller,
mildly retarded but normal phenotype.

SEX CHROMOSOMES AND SEXLINKED GENES

Chromosomes determine sex in many species
In mammals, a male has one X chromosome and
one Y chromosome
And a female has two X chromosomes
(male)
44
+
XY

22
+
X

Figure 9.22 A

(female)
Parents
diploid
cells

44
+
XX

22
+
Y
Sperm

22
+
X
Egg

44
+
XX

44
+
XY

Offspring
(diploid)

 Other systems of sex determination exist in

other animals and plants

22
+
XX

22
+
X

76
+
ZW

76
+
ZZ

32

16

Figure 9.22 B

Figure 9.22 C

Figure 9.22 D

 The Y chromosome
Has genes for the development of testes

The absence of a Y chromosome

Allows ovaries to develop

Comb Shape in Poultry

Alleles at two loci (R and P) interact

Walnut comb - RRPP, RRPp, RrPP, RrPp

Rose comb - RRpp, Rrpp
Pea comb - rrPP, rrPp
Single comb - rrpp

Campodactyly:
Unexpected Phenotypes
Effect of allele varies:
Bent fingers on both hands
Bent fingers on one hand
No effect

Many factors affect gene expression