Chapter 3 Genetics IB

 Heredity is the delivery of characteristics from parents to offspring.

 Genetics: the scientific study of heredity.

 Gregor Mendel is the father of genetics.

 Mendel carried out his work with ordinary garden peas.

 Today we call peas the “model system” because they are small, easy
to grow, and they produce large numbers of offspring.

 Fertilization is the process in which reproductive cells (egg from the female and
sperm from the male) join to produce a new cell.

 Pea plants are true-breeding or self-pollinating which means the sperm fertilizes the egg of the
same plant. In self-pollination, the offspring are identical to their parent since they have only
one parent.

 A trait is a specific characteristic; such as seed color or plant height.

 Mendel wanted to control fertilization so he could study how traits passed from one generation
to the next. So, he prevented self-pollination in the peas. He decided to remove the male parts
from one flower and dusting their pollen (containing sperm) onto the female parts of another
flower by a process known as cross-pollination.

In cross-pollination:

 The offspring are not identical to their parents.

 Each original plant was called the P generation (parental generation)
 The offspring were called the F1 generation (first filial generation)
 The offspring of true-breeding parents with different traits are called hybrids
(in other words, the F1 generation)
 Each offspring showed the trait of only one parent and the trait of the other parent would
disappear.
Mendel’s discoveries after performing the cross-pollination of pea plants:

 Mendel found that traits are controlled by factors that pass from parent to
offspring. Those factors are genes. The different forms of a gene are alleles.

 Mendel’s other conclusion is called the “principle of dominance” which states

that some alleles are dominant and others are recessive. The recessive allele is
exhibited only when the dominant allele is not present.

F1 Cross:

Mendel allowed members of the F1 generation to self-pollinate in a cross we call F1 cross. The result
was:

The trait controlled by the recessive allele

appeared in the next generation (F2) in about one-
fourth of the offspring— even when it did not
appear in the F1 generation. This is due to
segregation.

Mendel assumed that the dominant allele is tall

and the recessive allele was short, that’s why all F1
appeared tall.

However, all F1 carried the short trait but it was

masked by the tall trait.

During gamete (sex cells) formation, the alleles for each

gene segregate from each other, so that each gamete
carries only one allele for each gene.

Thus, each F1 plant produces two kinds of gametes—

those with the tall allele and those with the short allele.

 Segregation: is the separation of alleles during formation of gametes. The result is that each
gametes carries only one allele for each gene.

 Thus, the F2 generation gets a new combination of alleles (one from each parent):
- Homozygous dominant
 - Heterozygous dominant
- Homozygous recessive.

Example of Segregation:

TT tt

Tall Short

T T t t

Tt Tt Tt Tt

Homozygous or pure: organisms that have two identical alleles for a given trait.
Heterozygous or hybrid: Organisms that have different alleles for the same gene.

Phenotype: Physical traits/ appearance of and organism. Ex. Blue color, white color

Genotype: genetic makeup consisting of alleles of an organism. Ex: BB, Bb

Monohybrid cross: is a cross between two organisms with different alleles at one genetic locus of
interest.

Dihybrid cross: Is a genetic cross between parents that differ in two characteristics, controlled by genes
at different loci.

Dominant allele: an allele that has the same effect on phenotype whether it is present in the
homozygous or heterozygous state.

Recessive allele: an allele that has an effect on phenotype only when it is present in the homozygous
state.

Carrier: an individual that has a recessive allele of a gene that does not have an effect on their
phenotype

Locus: the particular position of a gene on homologous chromosomes

Punnett square is a mathematical tool that helps predict combinations in genetic crosses.

 When writing genotypes, a capital letter represents a dominant allele and a lowercase letter
represents a recessive allele.
 Dominant can be homozygous or heterozygous.
 Recessive is always heterozygous.
 Phenotype always determines genotype.
Example of a cross:

 Test Cross / Backcross:

–Cross done to find the genotype of an organism.

–Cross the unknown with a homozygous recessive.

-If the progeny produced were 100% carrying the dominant allele, then the parent was homozygous
dominant.

- If the progeny produced were 50% carrying the dominant allele and 50% carrying the recessive allele,
then the parent was heterozygous dominant.
Probability & Punnett Square:

 Probability: is the likelihood that a particular event will occur.

Probability predicts the recombination of alleles:

 Of an allele pair, the probability of each allele in a gamete is

½, or 50 percent.

 When F1 hybrid individuals are crossed, the probability of:

o two recessive alleles is ¼.

o two dominant alleles is ¼.
o one dominant allele and one recessive allele is ½ (¼ + ¼).

 Punnett square: is a mathematical tool that helps predict combinations in genetic crosses. It
helps predict the genotype and phenotype combinations in genetic crosses.

 Going Back to Mendel’s F1 monohybrid cross to confirm the results using Punnett square:

Phenotype: Tall x Tall

Genotype: Tt x Tt

Gametes: T ½ t½ T ½t½
 Male T 1/2 t 1/2

Female

T 1/2 TT 1/4 Tt 1/4

t 1/2 Tt 1/4 Tt 1/4

Results:

Genotypes: Phenotypes:

TT ¼ dominant homozygous Tall 3/4 dominant

Tt ½ dominant heterozygous Short ¼ recessive Ratio= 3:1

Tt ¼ homozygous recessive

Result confirmed!

A Summary of Mendel’s Principles

(applied mainly on humans)

► Genes are passed on from parents and determine traits.
► Law of Dominance: Where two or more alleles for a gene exist, some may be dominant and
others recessive.
► Law of Segregation: In sexually reproducing organisms, offspring
receive a copy of each gene from each parent. The alleles segregate
when forming gametes.
► Law of independent Assortment: Alleles for different genes usually segregate independently
during the formation of gametes.

 Some exceptions to Mendel’s principles:

 Some alleles are neither dominant nor recessive.

 Many genes exist in several different forms, and are therefore said to have multiple alleles.
 Many traits are produced by the interaction of several genes.
  Many important traits are controlled by more than one gene. Mendel’s principles alone cannot
predict traits that are controlled by multiple alleles or multiple genes.
 Incomplete Dominance
 A cross between two four o’clock plants shows a common exception to Mendel’s principles.
 The F1 generation produced by a cross between red-flowered (RR) and white-flowered
(WW) plants consists of pink-colored flowers (RW), as shown with a percentage 100%
 In this case, neither allele is dominant. Cases in which one allele is not completely dominant
over another are called incomplete dominance.
 In incomplete dominance, the heterozygous phenotype lies
somewhere between the two homozygous phenotypes.
 Both alleles are symbolized by a capital letter

Example: In snapdragons, flower color is controlled by incomplete

dominance. The two alleles are red (R) and white (R’). The heterozygous
genotype is expressed as pink.

What is the phenotype of a plant with the genotype RR?

RED

b. What is the phenotype of a plant with the genotype R’R’?

WHITE

c. What is the phenotype of a plant with the genotype RR’?

PINK

6. A pink-flowered plant is crossed with a white-flowered plant.

What is the probability of producing a pink-flowered plant?

R 50% R’ 50%
R 50% RR 25% RR’ 25%
R’ 50% RR’ 25% R’R’ 25%
50% RR’

7. What cross will produce the most pink-flowered plants? Show a punnett square to support your
answer.

R 50% R 50%
R’ 50% RR’ 25% RR’ 25%
R’ 50% RR’ 25% RR’ 25%

100% pink

 Codominance
 In which the phenotypes produced by both alleles are clearly expressed are called
codominance.
 Offspring show characteristics of both parents.
 Heterozygous chickens have a color described as “erminette,” speckled with black and white
feathers.
 Both alleles are symbolized by a capital letter.

Example: In some chickens, the gene for feather color is controlled by codominance. The allele for black
is B and the allele for white is W. The heterozygous phenotype is known as erminette.

a. What is the genotype for black chickens?

BB
b. What is the genotype for white chickens?
WW
c. What is the genotype for erminette chickens?
BW
3. If two erminette chickens were crossed, what is the probability that: (use a Punnett square)
a. They would have a black chick? 25% BB
b. They would have a white chick? 25% WW
 B 50% W 50%
B 50% BB 25% BW 25%
W 50% BW 25% WW 25%

4. A black chicken and a white chicken are crossed. What is the probability that they will have
erminette chicks?

B 50% B 50%
W 50% BW 25% BW 25%
W 50% BW 25% BW 25%

100% B B

 Multiple Alleles
 A single gene can have many possible alleles. A gene with more than two alleles is said
to have multiple alleles.

Example: Blood type has 4 alleles for the antigen and 2 alleles foe rhesus (+/-)

A+ B- O + AB - A- B+ O- AB +
 Polygenic Traits
 Traits controlled by two or more genes are said to be polygenic traits.
 Polygenic means “many genes” and often show a wide range of phenotypes.

Example: The variety of skin color in humans comes about partly because more than four
different genes probably control this trait.

 Genes and the Environment

 The characteristics of any organism are not determined solely by the genes that organism
inherits.
 The phenotype of an organism is only partly determined by its genotype.
  Environmental
conditions can affect
gene expression and
influence genetically
determined traits.

Example:

Scientific studies revealed that butterflies hatching in springtime had greater levels of pigment in their
wings than those hatching in the summer. In other words, the environment in which the butterflies
develop influences the expression of their genes for wing coloration.

In order to fly effectively, the body temperature of the Western white butterfly needs to be 28–40°C.
More pigmentation allows a butterfly to reach the warm body temperature faster.

Similarly, in the hot summer months, less pigmentation prevents the butterflies from overheating.

 Transmission of Human Traits

1- Most human traits follow a pattern of simple dominance or codominance.

Example 1: The allele for Rh factor comes in two forms: Rh+ and Rh- . Rh+ is dominant, so an individual
with both alleles (Rh+ /Rh- ) is said to have Rh positive blood. Rh negative blood is found in individuals
with two recessive alleles (Rh- /Rh- ).

Example 2: However, the alleles for the ABO blood group genes display codominant inheritance (IA ,
IB ,and i).

2- Because the X and Y chromosomes determine sex, the genes located on them show a different
pattern of inheritance called sex-linked.
  Transmission of Sex-linked Traits

 Sex-linked gene: is a gene located on a sex chromosome.

 Genes on the Y chromosome are found only in males and are
passed directly from father to son.
 Genes located on the X chromosome are found in both sexes,
but the fact that men have just one X chromosome leads to some
interesting consequences (patterns).

Example: Humans have three genes responsible for color vision, all located
on the X chromosome.

In males, a defective allele for any of these genes results in colorblindness, an

inability to distinguish certain colors. The most common form, red-green
colorblindness, occurs in about 1 in 12 males.

Among females, however, colorblindness affects only about 1 in 200. In order

for a recessive allele, like colorblindness, to be expressed in females, it must
be present in two copies—one on each of the X chromosomes.

The recessive phenotype of a sex-linked genetic disorder tends to be much more common among
males than among females because it only needs one allele on X chromosome to be expressed while
in females it needs the presence of 2 alleles.

Example 1: Consider the eye color of flies is sex linked in which red is dominant over white.

1- A pure red-eyed female was crossed with a white-eyed male.

Phenotypic and Genotypic Ratios of Punette Square:

 XR X r normal female (Carrier) 50%

XR Y normal male 50%

2- Carrier normal female was crossed with a red-eyed male.

XRXr x X RY

Genotypic Ratios of Punette square:

XR XR 25 %

XR X r 25%

XR Y 25%

Xr Y 25%

Phenotypic Ratios:

50% normal female ( 1 pure and 1 carrier)

25% normal male

25% recessive expressed

male

Note that in the recessive expressed male only one recessive allele
was present and it was expressed.
 Question 2: Construct a cross that could produce a white-eyed female fruit fly.

Answer: Students should show a cross between a white-eyed male (X rY) and a heterozygous female
(XRXr) or a homozygous recessive female (XrXr). Homozygous recessive female offspring (XrXr) will have
white eyes. SHOW THE PUNNETE SQUARE.

Example 3: Hemophilia is a recessive sex-linked disease in humans. What are the chances a normal
male and a carrier female will have a child w/ hemophilia?

XH 50% Y 50% 25% XhY chance to have a male with hemophilia

XH 50% XHXH 25% XHY 25% Females 100% normal

Xh 50% XHXh 25% XhY 25% Males 50% normal

 X-Chromosome Inactivation
 Barr Body: In female cells, most of the genes in one of the X chromosomes are randomly
switched off, forming a dense region in the nucleus. That’s how females adjust to the extra X
chromosome found in their nuclei.
 Barr bodies are generally not found in males because their single X chromosome is still active.
Example: In cats, a gene that controls the color of coat spots is located on the X chromosome.
One X chromosome having an allele for orange spots may be switched off in some parts of the
body. The other X chromosome having an allele for black spots is switched off in other parts of
the body. As a result, the cat’s fur has a mixture of orange and black spots. Male cats, which
have just one X chromosome, can have spots of only one color. If a cat’s fur has three colors—
white with orange and black spots, it’s definitely a female.

 Y-linked Genes
  A condition is considered Y-linked if the altered gene that causes the disorder is located on
the Y chromosome, one of the two sex chromosomes in each of a male's cells.
 Because only males have a Y chromosome, in Y-linked inheritance, a variant can only be
passed from father to son.

 Human Pedigrees

 A pedigree is a visual chart that depicts a family history or the transmission of a specific trait.
They can be interesting to view and can be
important tools in determining patterns of
inheritance of specific traits
 Pedigrees are used primarily by genetic
counselors when helping couples decide to
have children when there is evidence of a
genetically inherited disorder in one or both
families.
 They are also used when trying to determine
the predisposition of someone to carry a
hereditary disease for example, familial
breast cancer.
Main components of a pedigree:

 The steps when interpreting a pedigree chart

1- Determine if the pedigree chart shows an autosomal or X- linked disease.

• If most of the males in the pedigree are affected, then the disorder is X-linked.

• If it is a 50/50 ratio between men and women the disorder is autosomal.

2- Determine whether the disorder is dominant or recessive.

• If the disorder is dominant, one of the parents must have the disorder.

• If the disorder is recessive, neither parent has to have the disorder because they can be
heterozygous.

Hints for analyzing pedigrees:

1) If the individual is homozygous recessive, then both parents MUST have at least one recessive allele
(parents are heterozygous or homozygous recessive).

2) If an individual shows the dominant trait, then at least one of the parents MUST have the dominant
phenotype. This one will be pretty obvious when you look at the pedigree.

3) If both parents are homozygous recessive, then ALL offspring will be homozygous recessive.

 Types of inheritance

Rules of Inheritance for Mitochondrial trait

 Rules of Inheritance for Autosomal Recessive

 A consanguineous marriage is defined as a union between two individuals who are related
as second cousins or closer in which they have a higher chance to give birth to affected
offspring.

Rules of Inheritance for Autosomal Dominant

Rules of Inheritance for X-linked Dominant
Rules of Inheritance for X-linked Recessive
Rules of Inheritance for Y-linked Dominant

 From Molecule to Phenotype

  There is a molecular reason for genetic disorders.
 A change in DNA or genes can alter an amino acid sequence, which can change a protein
and therefore, the phenotype.

 Genetic Disorders:

1- Sickle cell Disease:

- This disorder is caused by a defective allele for beta-globin, one of two polypeptides in
hemoglobin, the oxygen-carrying protein in red blood cells making hemoglobin molecules less
soluble, and thus causing them to stick together when the blood’s oxygen level decreases.
- The molecules clump into long fibers, forcing cells into a distinctive sickle shape, which gives the
disorder its name.

2- Cystic fibrosis CF:

- most common among people of European ancestry.
- Recessive disorder
- Children with CF have serious digestive problems and produce thick, heavy mucus that clogs
their lungs and breathing passageways.
- A deletion of three bases in CFTR gene causes cell membranes to lose their ability to transport
chloride ions
- The cystic fibrosis transmembrane conductance regulator (CFTR) protein is a chloride channel
that is responsible for regulating the proper flow of chloride and sodium 
- People with one normal copy of the CF allele are unaffected by CF, because they can produce
enough CFTR to allow their cells to work properly

3- Huntington’s disease:

- is caused by a dominant allele for a protein found in brain cells.

- a single codon CAG coding for the amino acid glutamine repeats more than 40 times, causing
mental deterioration and uncontrolled movements.
- usually do not appear until middle age.
- The greater the number of codon repeats, the earlier the disease appears, and the more severe
are its symptoms.
 Genetic Advantages of Disorders
 Malaria: is a mosquito-borne infection caused by a parasite that lives inside red blood cells;
common in Africa.
 Typhoid: is caused by a bacterium that enters the body through cells in the digestive
system. The protein produced by the CF allele helps block the entry of this bacterium.
 Individuals heterozygous for CF would have had an advantage when living in cities with poor
sanitation and polluted water, and—because they also carried a normal allele—these
individuals would not have suffered from cystic fibrosis.
 Also, a person with sickle-cell disease is less likely to be infected with malaria.
 In conclusion, some alleles that cause disease in the homozygote can provide an advantage
in the heterozygote. The geographic associations between sickle cell disease and malaria
and between cystic fibrosis and typhoid
demonstrate how the heterozygous state reduces
the risk of infection.

 Chromosomal Disorders
 Sometimes, during meiosis, homologous
chromosomes fail to separate. This
nondisjunction (not coming apart) can create a
gamete with an abnormal number of
chromosomes, leading to offspring with missing
or extra chromosomes.

 Examples include:

1- Trisomy:

- Two copies of an autosomal chromosome fail to separate during meiosis, an individual may be
born with three copies of that chromosome.

- The most common form of trisomy, involving three copies of chromosome 21, is Down syndrome,
which is often characterized by mild to severe mental retardation and a high frequency of certain
birth defects.

2- Turner’s syndrome:

- Nondisjunction of the X chromosomes

- A female with Turner’s syndrome usually inherits only one X chromosome.
- Women with Turner’s syndrome are sterile, which means that they are unable to reproduce.
Their sex organs do not develop properly at puberty
4- Klinefelter’s syndrome:

- In males, nondisjunction in males resulting from the inheritance of an extra X chromosome,

which interferes with meiosis and usually prevents these individuals from reproducing.
- A male with an extra X chromosome (XXY)
- There have been no reported instances of babies being born without an X chromosome,
indicating that this chromosome contains genes that are vital for the survival and development
of the embryo.

 Chromosome Number

 Chromosomes: strands of DNA and protein inside the cell nucleus are the carriers of genes.
 Passed from parents to offspring, DNA contains the specific instructions that make each type of
living creature unique.
 The genes (alleles) are located in specific positions on chromosomes called gene locus.

 Each species has a characteristic number of chromosomes in each cell.

  Offspring usually inherit chromosomes as sets known as homologous chromosomes, meaning
that one chromosome is inherited from the male parent and the other from the female parent.

 There are two types of cells found in the body of most adult organisms: diploid and haploid.
 Diploid Cells (2N): contain two complete sets of inherited chromosomes and two complete sets
of genes.
 Haploid Cells or Gametes (N): contain only a “single set” of chromosomes, and therefore a
“single set” of genes.

For example, in humans we have 2n = 46 in diploid cells

n = 23 in haploid cells

 Meiosis
 Gametes or sex cells are haploid cells responsible for reproduction by a process called
fertilization.
 Fertilization: is the union of two haploid gametes, the sperm and the egg, to restore the
diploid state forming a zygote.
 The zygote then undergoes cell division by mitosis (growth) and eventually forms a new
organism.
 Meiosis is a process in which the number of chromosomes per cell is cut in half through
the separation of homologous chromosomes in a diploid cell.

 Meiosis usually involves two distinct divisions, called meiosis I (Reductional Division)
and meiosis II (Mitotic Division).
 By the end of meiosis II, the diploid cell becomes four haploid cells.

 Meiosis accomplishes two critical purposes of sexual reproduction, and is therefore the
basis of all genetics and evolution in sexually reproducing organisms:
1)Meiosis maintains the diploid number for the species
2)Meiosis creates genetic variation within the species
 Meiosis I is preceded by an interphase produces two cells. However, neither cell goes
through a round of chromosome replication before entering meiosis II.
 Meiosis I reduces the number of chromosomes in a diploid cell into half.
 Meiosis II takes place in the same manner as mitosis. The two daughter cells produced
at the end of meiosis I (in most cases) undergo further division and produce four
daughter cells at the end of meiosis II.
Meiosis

4 strands of DNA Interphase

(S stage)

chromatin strands duplicate to form 4

chromosomes. Each chromosome consists
of two identical chromatids joined at the
centromere.

Prophase I

Nuclear envelop disappears

Chromatins condense and coil to form chromosomes

homologous chromosomes pair up forming

tetrads which contain 4 chromatids

homologous chromosomes begin to condense

and come towards each other by a process
called synapsis. After synapsis, crossing over
takes place

The centrioles/ centrosomes become asters and move

to opposite poles of the cell
The achromatic spindle forms between the asters

The nucleolus disappears

The chromosomes begin to thicken and

move away from the nuclear envelope

The spindle fibers connect to the centromere Metaphase I

of each tetrad to the two poles of the cells.

Tetrads are pulled to the middle of the cells

by the spindle fibers to form the equatorial plate (double file)

The homologous chromosomes separate Anaphase I

during this stage.

The chromosomes migrate to the opposite

poles of the cell.

The sister chromatids remain together at this

stage.
 Telophase I and Cytokinesis

Telophase:

Spindle disappears and nuclear membrane forms around each

set of chromosomes

• In animal cells the cell membrane is drawn in until the

cytoplasm is pinched into two equal parts (cleavage furrow).

• Each daughter cell has n chromosomes and each

chromosome is made up of 2 sister chromatids

– Because each pair of homologous chromosomes was

separated, neither daughter cell has the two complete sets of
chromosomes that it would have in a diploid cell.

– The two cells produced by meiosis I have sets of

chromosomes and alleles that are different from each other
and from the diploid cell that entered meiosis I.

Cytokinesis:

-Cytokinesis forms two new haploid daughter cells.

The centrioles/centrosomes become asters Prophase II

and move to opposite poles of nucleus/ cell
and the achromatic spindle forms between
the asters.

- The nuclear envelope breaks down.

- The duplicated chromosome condenses and becomes visible

Chromatins coil to become chromatids

 The spindle fibers connect the centromere of Metaphase II
each chromosome to the two poles of the
spindle.

Individual chromosomes line up across the center of the cell

forming an equatorial plate.(single file)

the centromeres divide Anaphase II

the 2 sister chromatids of a chromosome

separate and are pulled towards

opposite poles of the cell

 Spindle disappears and nuclear Telophase II

membrane forms around each set
of chromosomes

• In animal cells the cell membrane is drawn in until the

cytoplasm is pinched into two equal parts.

 Each of the four haploid daughter cells (gametes)

produced receives genetically different chromosomes
made up of 1 strand of chromatids (complete set of
information) at the end of meiosis II.
  Sources of Genetic variation in Meiosis:

1) Crossing over during prophase I

Synapsis: is the pairing of homologous chromosomes during prophase I of meiosis I forming

tetrads.

 When forming tetrads, homologous chromosomes undergo a process called crossing-over.

 First, the chromatids of the homologous chromosomes cross over one another.
 Then, the crossed sections of the chromatids are exchanged producing new combinations of
alleles (genetic variation) in the cell.

Chiasma is the point of contact between unrelated chromatids from homologous chromosomes

 These 4 different chromatids will end up in 4 different gametes.

2) Orientation during Metaphase I

 Orientation of paternal and maternal chromosomes is random when they line up
leading to the production of 4 gametes containing different combinations of alleles.
 Number of different combinations = 2n, where n = haploid chromosomes

 Comparing Meiosis and Mitosis.

Mitosis Meiosis
 1 division 2 divisions

2 identical diploid cells 4 different haploid cells

Chromosomes (single file) Homologous pairs (double file)

Chromatids separate Chromosomes separate

Same # of chromosomes Reduces # of chromosomes

Asexual reproduction Sexual reproduction

Genetically identical copies Genetic Variation

 Karyotype

 Karyotype: is a preparation of the complete set of metaphase chromosomes in the cells of a

species or in an individual organism, sorted by length, centromere location and other
 features and for a test that detects this complement or counts the number of chromosomes.

 The human karyotype consists of 22 pairs of autosomes and one pair (last) of sex
chromosomes X or Y.

 Sex chromosomes: 23rd pair that determines gender.

 If the pair of sex chromosomes is XX, then it is a female and if XY, then it’s a male.

Female Male
 Gene Linkage

 A scientist called Morgan used a fly (2n = 8) with reddish-orange eyes and miniature wings in a
series of test crosses. His results showed that the genes for those two traits were almost always
inherited together.
 It was observed that so many genes that were inherited together that, before long, they could
group all of the fly’s genes into four linkage groups.
 Morgan’s findings led to two remarkable conclusions:
1) Gene Linkage: Alleles of different genes tend to be inherited together from one generation to
the next when those genes are located on the same chromosome.
 Each chromosome is actually a group of linked genes.

2) Independent Assortment: The chromosomes assort independently, not individual genes.

NOTE: Crossing over may lead to independent assortment.

 Gene Mapping
 Genetic Map: shows the relative location of genes on a chromosome.
 Alfred Sturtevant reasoned that the farther apart two genes were on a chromosome, the more
likely it would be that a crossover event would occur between them.
  If two genes are close together, then crossovers between them should be rare. If two genes are
far apart, then crossovers between them should be more common.
 Sturtevant used the frequency of crossing-over between genes to determine their distances
from each other and therefore presented a genetic map showing the relative locations of each
known gene on one of the Drosophila chromosomes.

 Errors During Meiosis

 Random errors may occur during the separation of chromosomes in meiosis, leading to
the formation of abnormal gametes having extra or missing chromosomes.

Abnormal Abnormal gametes

gametes having missing
having extra chromosomes
chromosomes

 Abnormal gamete that is fertilized with a “normal” gamete produce abnormal offspring.

Example: Down Syndrome or Trisomy 21 is a condition in which a child is born with an extra copy of
their 21st chromosome.