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 Genetics Notes
Who is Gregor Mendel? “Father of Genetics”

Principle of Independent Assortment – Inheritance of one

trait has no effect on the inheritance of another trait
6.3 Mendel and Heredity

• Mendel laid the groundwork for genetics.

• Traits are distinguishing

characteristics that are inherited.
• Genetics is the study of biological
inheritance patterns and
variation.
• Gregor Mendel showed that
traits are inherited as discrete
units.
• Many in Mendel’s day thought
traits were blended.
 Traits
• Genetics – study of how traits are passed from parent
to offspring
6.3 Mendel and Heredity

• Mendel’s data revealed patterns of inheritance.

• Mendel made three key decisions in his experiments.

– use of purebred plants
– control over breeding
– observation of seven
“either-or” traits
6.3 Mendel and Heredity

• Mendel used pollen to fertilize selected pea plants.

– P generation crossed to produce F1 generation
– interrupted the self-pollination process by removing male
flower parts

Mendel controlled the He then fertilized the female

fertilization of his pea plants part, or pistil, with pollen from
by removing the male parts, a different pea plant.
or stamens.
6.3 Mendel and Heredity

• Mendel allowed the resulting plants to self-pollinate.

– Among the F1 generation, all plants had purple flowers
– F1 plants are all heterozygous
– Among the F2 generation, some plants had purple
flowers and some had white
6.3 Mendel and Heredity

• Mendel observed patterns in the first and second

generations of his crosses.
6.4 Traits, Genes, and Alleles

• The same gene can have many versions.

• A gene is a piece of DNA that directs a cell to make a certain
protein.
• Each gene has a locus, a
specific position on a pair of
homologous chromosomes.
6.4 Traits, Genes, and Alleles

• An allele is any alternative form of a gene occurring at a specific

locus on a chromosome.
Pure Traits
– Each parent donates
one allele for every
gene.
– Homozygous
describes two alleles
that are the same at a
specific locus.
– Heterozygous
describes two alleles
that are different at a Mixed Traits
specific locus.
Shihtzu Poodle
6.4 Traits, Genes, and Alleles

• Genes influence the development of traits.

• All of an organism’s genetic material is called the genome.

• A genotype refers to the makeup of a specific set of genes.
• A phenotype is the physical expression of a trait.
6.4 Traits, Genes, and Alleles

• Alleles can be represented using letters.

– A dominant allele is
expressed as a phenotype
when at least one allele is
dominant.
– A recessive allele is
expressed as a phenotype
only when two copies are
present.
– Dominant alleles are
represented by uppercase
letters; recessive alleles by
lowercase letters.
6.4 Traits, Genes, and Alleles

• Both homozygous dominant and heterozygous genotypes

yield a dominant phenotype.
• Most traits occur in a range
and do not follow simple
dominant-recessive patterns.
• Traits are determined by the genes on the
chromosomes. A gene is a segment of DNA that
determines a trait.
• Chromosomes come in homologous pairs, thus genes
come in pairs.
Homologous pairs – matching genes – one from female
parent and one from male parent
• Example: Humans have 46 chromosomes or 23 pairs.
One set from dad – 23 in sperm
One set from mom – 23 in egg
• One pair of Homologous Chromosomes:

Gene for eye color

(blue eyes)

Homologous pair
of chromosomes

Gene for eye color

(brown eyes)

Alleles – different genes (possibilities) for the same trait –

ex: blue eyes or brown eyes
Dominant and Recessive Genes
• Gene that prevents the other gene from “showing” –
dominant
• Gene that does NOT “show” even though it is present –
recessive
• Symbol – Dominant gene – upper case letter – T
Recessive gene – lower case letter – t

Recessive
Dominant
color
color
Example: Straight thumb is dominant to hitchhiker thumb
T = straight thumb t = hitchhikers thumb

(Always use the same letter for the same alleles—

No S = straight, h = hitchhiker’s)

Straight thumb = TT
Straight thumb = Tt
Hitchhikers thumb = tt * Must have 2 recessive alleles
for a recessive trait to “show”
• Both genes of a pair are the same –
homozygous or purebred
TT – homozygous dominant
tt – homozygous recessive

• One dominant and one recessive gene –

heterozygous or hybrid
Tt – heterozygous

BB – Black
Bb – Black w/ bb – White
white gene
Genotype and Phenotype
• Combination of genes an organism has (actual gene
makeup) – genotype
Ex: TT, Tt, tt
• Physical appearance resulting from gene make-up –
phenotype
Ex: hitchhiker’s thumb or straight thumb
Punnett Square and Probability
• Used to predict the possible gene makeup of offspring –
Punnett Square
• Example: Black fur (B) is dominant to white fur (b) in mice
1. Cross a heterozygous male with a homozygous recessive female.

Black fur (B) White fur (b)

Heterozygous Homozygous
male recessive female

White fur (b) White fur (b)

 5

4
D- CIRCLE
R- TRIANGLE
DOMINANT – MADAMI
RECESSIVE -- KONTI
D– Black D– mas madami
R--white R- madalang or konti
ALL CAPITAL LETTERS All small letters
PURE DOMINANT Pure Recessive
BB bb
 HETEROZYGOUS
(Halo o Mix)
Capital and small
letter Bb
 Genotypic Ratio
• Combination of genes an organism has (actual
gene makeup) – genotype
Ex: TT, Tt, tt

Number nung lumabas na result after i-Punnet

Square

BB– 2, Bb -1, bb 3
 Phenotypic Ratio
• Physical appearance resulting from gene
make-up – phenotype

Bali dito, babase tayo sa sagot mula sa genotypic

ratio..

BB– 2, Bb -1, bb 3
Black -2 B&W -1 White -3
Black padin
 Male = Bb X Female = bb
Female gametes – N
(One gene in egg)
b b
Possible offspring – 2N
Male gametes - N B Bb Bb
(One gene in
sperm) b bb bb

Write the ratios in the following orders:

Genotypic ratio = 2 Bb : 2 bb Genotypic ratio
50% Bb : 50% bb homozygous : heterozygous : homozygous
Phenotypic ratio = 2 black : 2 white dominant recessive
50% black : 50% white Phenotypic ratio
dominant : recessive
Cross 2 hybrid mice and give the genotypic ratio and
phenotypic ratio.
B b
Bb X Bb
B BB Bb

b Bb bb

Genotypic ratio = 1 BB : 2 Bb : 1 bb
25% BB : 50% Bb : 25% bb

Phenotypic ratio = 3 black : 1 white

75% black : 25% white
Example: A man and woman, both with brown eyes (B)
have a blue eyed (b) child. What are the genotypes of the
man, woman and child?

Bb X Bb
Man = Bb
B b
Woman = Bb
B BB Bb

b Bb bb
• What is the probability of a couple having a boy? Or a girl?

Chance of having female baby? 50%

male baby? 50%

X X
X XX XX

Y XY XY

Who determines the sex of the child? father

Incomplete dominance and Codominance
• When one allele is NOT completely dominant over
another (they blend) – incomplete dominance
Example: In carnations the color red (R) is incompletely
dominant over white (W). The hybrid color is
pink. Give the genotypic and phenotypic ratio from a
cross between 2 pink flowers.
R W
RW X RW
R RR RW

W RW WW

Genotypic = 1 RR : 2 RW : 1 WW
Phenotypic = 1 red : 2 pink : 1 white
• When both alleles are expressed – Codominance
Example: In certain chickens black feathers are
codominant with white feathers.
Heterozygous chickens have black and white speckled
feathers.
Sex – linked Traits
• Genes for these traits are
located only on the X
chromosome (NOT on the Y
chromosome)
• X linked alleles always show
up in males whether
dominant or recessive
because males have only
one X chromosome
• Examples of recessive sex-linked disorders:
1. colorblindness – inability to distinguish between
certain colors

You should see 58

(upper left), 18
(upper right), E
(lower left) and 17
(lower right).

Color blindness is the inability to distinguish the differences between certain colors. The most
common type is red-green color blindness, where red and green are seen as the same color.
2. hemophilia – blood won’t clot
• Example: A female that has normal vision but is a carrier
for colorblindness marries a male with normal vision.
Give the expected phenotypes of their children.
N = normal vision
n = colorblindness XN Xn X XN Y
XN Xn
XN XNXN XNXn

Y XNY Xn Y
Phenotype: 2 normal vision females
1 normal vision male
1 colorblind male
Pedigrees
• Graphic representation of how a trait is
passed from parents to offspring
• Tips for making a pedigree
1. Circles are for females
2. Squares are for males
3. Horizontal lines connecting a male and a
female represent a marriage
4. Vertical line and brackets connect parent
to offspring
5. A shaded circle or square indicates a
person has the trait
6. A circle or square NOT shaded represents
an individual who does NOT have the trait
7. Partial shade indicates a carrier –
someone who is heterozygous for the trait
• Example: Make a pedigree chart for the following
couple. Dana is color blind; her husband Jeff is not.
They have two boys and two girls.
HINT: Colorblindness is a recessive sex-linked trait.
XnXn XNY

Has trait Can pass trait to

offspring
Multiple Alleles
• 3 or more alleles of the same gene that code for a single trait
• In humans, blood type is determined by 3 alleles – A, B, and O
BUT each human can only inherit 2 alleles
1. Dominant – A and B (codominance)
Recessive – O
2. Blood type – A = AA or AO
B = BB or BO
AB = AB
O = OO
Example: What would be the possible blood types of
children born to a female with type AB blood and
a male with type O blood?

AB X OO
A B
O AO BO

O AO BO

Children would be type A or B only

Mutations
• Mutation – sudden genetic change (change in base pair
sequence of DNA)
• Can be :
Harmful mutations – organism less able to survive:
genetic disorders, cancer, death
Beneficial mutations – allows organism to better
survive: provides genetic variation
Neutral mutations – neither
harmful nor helpful to organism
• Mutations can occur in 2 ways:
chromosomal mutation or
gene/point mutation
• Examples:
Down’s syndrome – (Trisomy 21) 47 chromosomes,
extra chromosome at pair #21
Turner’s syndrome – only 45 chromosomes, missing a
sex chromosome (X)
Girls affected – short, slow growth, heart problems
Klinefelter’s syndrome – 47 chromosomes, extra X
chromosomes (XXY)
Boys affected – low testosterone levels, underdeveloped
muscles, sparse facial hair
Detecting Genetic Disorders
• picture of an individual’s chromosomes – karyotype
• amniotic fluid surrounding the embryo is removed for
analysis – amniocentesis

Female with Down’s syndrome