 The study of heredity.

Engr. Yvonne Ligaya F. Musico 1

 Gregor Mendel
– Was the first person to
analyze patterns of
inheritance.
– An Austrian monk and
scientist who started the
modern genetics in
1860.
– Deduced the
fundamental principles
of genetics

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 Mendel studied garden
peas
– These plant are easily
manipulated
– These plants can self-
fertilize
– The seed of the pea
plants are easy to obtain
and reproduce in only
about 90 days. Stamen

Carpel
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 Mendel carried some cross-fertilization.
 He also created “true-breeding” varieties of
plants
 Mendel then crossed two different “true-
breeding” varieties, creating hybrids
 Hybrid - An organism that receives different
genetic information for a trait from each
parent.

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 P Generation
(true-breeding
parents)
A monohybrid Purple White
flowers flowers
cross is a cross
All plants have
between parent F1 Generation
purple flowers

plants that differ

in only one Fertilization
among F1 plants
characteristic (F1  F1)

F2 Generation

3/ 1/ of plants
of plants
4 4
have purple have white
flowers flowers

(a) Mendel’s crosses tracking one

characteristic (flower color)
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1. There are alternative forms of genes,
now called alleles

2. For each characteristic, each organism

has two copies of a gene; we now call
them “alleles”
GENE - Inherited factor which control
or determine the appearance of a
particular trait.
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3. While the cells of an organism have 2 alleles for
each gene, Gametes (Egg and Sperm) carry only
one allele for each inherited characteristic

4. Alleles can be dominant or recessive. Mendel

called the trait that showed in a hybrid a
dominant trait and the trait that did not show in
the hybrid, the recessive trait.

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Phenotype

– An organism’s physical traits

Genotype

– An organism’s genetic makeup

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Pairs of alleles segregate (separate)
during gamete formation; the fusion of
gametes at fertilization creates allele
pairs again.

Alleles - Two copies of genes for the

same trait. They are genes that have
contrasting effects on a characteristic

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 Homozygous

– When an organism has identical alleles for a

gene
 Heterozygous

– When an organism has different alleles for a

gene

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Two hypotheses for gene assortment
in a dihybrid cross (when two pairs
of traits are considered in a cross.)
– Dependent assortment
– Independent assortmet

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 Mendel’s principle of independent assortment

– Each pair of alleles segregates independently of

the other pairs during gamete formation

Blind Blind

Phenotypes Black coat, Black coat, Chocolate coat, Chocolate coat,

normal vision blind(PRA) normal vision blind (PRA)
Genotypes B_N_ B_nn bbN_ bbnn

(a)

Mating of heterozygotes
(black, normal vision) BbNn BbNn

Phenotypic ratio 9 black coat, 3 black coat, 3 chocolate coat, 1 chocolate coat,
of offspring normal vision blind (PRA) normal vision blind (PRA)
(b)
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Atestcross is a
mating between
Testcross:

– An individual Genotypes P_ pp
of unknown Two possibilities for the purple flower:

genotype and
PP Pp

– A homozygous Gametes P P p
recessive
individual P Pp p Pp pp

Offspring All purple 1 purple : 1 white

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 Therule of F1 Genotypes

multiplication B b female B b male

Formation of eggs Formation of sperm

– The probability
1/

of a compound B
2

B
event is the 1/
2
1/
product of the B B 2

b b
separate 1/
2
1/
4
(1/2  1/2)
probabilities of b B B b
the independent 1/
4
1/
4

events b b
F2 Genotypes 1/
4

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 Family Pedigree
– Shows the history of a trait in a family
– Allows researchers to analyze human traits

Female Male
Deaf
Dd Dd D_ D_
Joshua Abigail John Hepzibah Hearing
Lambert Linnell Eddy Daggett

D_ dd Dd
Abigail Jonathan Elizabeth
Lambert Lambert Eddy

Dd Dd dd Dd Dd Dd dd

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 Casesin which neither allele is dominant
over the other.
A heterozygote shows a phenotype that is
intermediate (blend of the phenotype of
two allele) between the two homozygous
phenotype.
 CODOMINANCE - Condition when the
heterozygotes exhibit the trait of both
parents.

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 Many human traits
– Show simple inheritance patterns
– Are controlled by genes on autosomes

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 Some traits are controlled by multiple
alleles, where there are more than two
alleles in a species.
 Human blood types are good example of
inheritance through multiple allele.
 The ABO group of blood proteins have alleles
of blood type A, B and O. The A and B alleles
both dominant over the other.

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POLYGENIC TRAIT - A
polygenic trait is one which is
controlled by two or more gene
pairs.
POLYPLOIDY - A change in
chromosome member involving 3 or
more sets of organism has.

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Polygenic
P Generation

aabbcc AABBCC

inheritance is
(very light) (very dark)
F1 Generation

the additive F2 Generation

AaBbCc AaBbCc

effects of two Eggs Sperm

or more genes
on a single
phenotype

Figure 9.22

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Human Eye Color
 Eye color is determined by the amount
of pigment melanin.
 Several different pair of genes control
the production of melanin in the eyes.
Facial Feature
 Many genes involved in such traits and
also have multiple alleles

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XX chromosomes – Female
XY chromosomes - Male

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Sex-linked disorders such as color
blindness and hemophilia are caused by
recessive genes located on the X-
chromosome,

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Hemophilia – the inability of
blood to clot. Hemophilia
causes uncontrollable internal
bleeding into the kidneys,
brain and other vital organs.

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The most famous carrier of
hemophilia was Queen Victoria
who unknowingly passed the gene
on one of her son and two of her
daughter.
Fortunately, the gene for
hemophilia has not been passed on
to any of the current European
royalty
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 Not all sex-linked genes are located on the X
chromosome.
 The gene for hair earlobes occur on the Y
chromosome. This trait never appears in
women.

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Sex-limited Traits – genes are
expressed only if they are carried by
an individual of a particular sex.

Example:
Heavy beard appears only in men.

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Certain genes are dominant in one
sex and recessive in the other.

Example:
Baldness is dominant in men and
recessive in women.

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LETHAL GENES - Genes which are in
homozygous condition that causes
death
MUTATION - A change in genetic
material of organism.

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 PLEIOTROPY - The ability of a single gene
to have a multiple effects.

For example,
 the gene that controls fur pigmentation in
Siamese cats also influence the connection
between a cat’s eyes and its brain. A
defective gene causes both abnormal
pigmentation and cross-eye. Tigers with
abnormal pigmentation also tend to be cross-
eyed.

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Alpha-fetoprotein screening
A blood test that measures the level
of alpha-fetoprotein in the mothers'
blood during pregnancy.

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Amniocentesis
 a procedure used to obtain a
small sample of the
amniotic fluid that
surrounds the fetus to
diagnose chromosomal
disorders and open neural
tube defects (ONTDs)

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Ultrasound Scan
 A diagnostic technique which uses high-
frequency sound
waves to create an image of the internal
organs.
 A screening ultrasound is sometimes done
during the course of a pregnancy to monitor
normal fetal growth and verify the due date.

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Chorionic Villi (Villus) Sampling
(CVS)
 A prenatal test that involves
taking a sample of some of the
placental tissue. This tissue
contains the same genetic
material as the fetus and can be
tested for chromosomal
abnormalities and some other
genetic problems

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