Intro to Mendelian Genetics

Mendel and the Garden Pea

● Mendel’s experimental design
o allowed pea plants to self-fertilize for several generations
● assured pure-breeding traits
o performed crosses between varieties exhibiting alternative character forms
o permitted hybrid offspring to self-fertilize for several generations

What Mendel Found

● F1 Generation (first filial)
o Offspring of white flower and purple flower cross had flower color resembling 🡪
one parent (no intermediate color); ALL purple flowers
● All flowers exhibited purple flowers (dominant trait) and none exhibited
white flowers (recessive trait).
● Parents transmit discrete physiological trait information (factors) to offspring.
● Each individual receives two factors that may code for same, or alternative, character
traits.

Genes and Alleles

● Alleles – different forms of a gene
● Example: Gene is hair color, the different alleles are: red, blond, brown, black, etc.

Notational convention
● T - dominant allele is a capital letter (Tall)
● t - recessive allele is a small letter (short)
● STATE POSSIBLE Combinations-
o (TT) – homozygous dominant (two of the same allele, which is dominant)
o (Tt) – heterozygous (two different alleles)
o (tt) – homozygous recessive (two of the same allele, which is recessive)

Genotype – Genetic makeup of an individual’s

alleles, eg. TT --- BB
Phenotype – physical appearance, eg. Tall, Brown
Eyes

Genetic Crosses

Monohybrid Cross 🡪 organisms differ in one trait, e.g.

Mendelian Inheritance
● Mendel’s First Law of Heredity (Law of Segregation)

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 o Alternative alleles of a character segregate from each other in heterozygous
individuals and remain distinct.

Drawing a Punnett Square

1. Draw a square with a 2 by 2 grid.
2. Consider all possible gametes produced by the first parent. Write the alleles for
these gametes across the top of the square.
3. Consider all possible gametes produced by the second parent. Write the alleles for
these gametes down the side of the square.
4. Complete the square by writing all possible allele combinations from the cross
5. Determine the genotypic and phenotypic proportions of the offspring.

Try Mendel’s Pea Plants, Cross between P1: Purple (Pure) x White (Pure)

F1: F2:

Ratios of types of flowers:

Genotypic Ratio:

Phenotypic Ratio:

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Name: ________________________ SBI3U Biology Date: ______________________
Ms. Paik
Sample Problem 1 (Slide 10):
In pea plants, the allele for yellow seed colour, Y, is dominant over that for green seed
colour, y. Consider a cross between a pea plant that is homozygous for yellow seeds and a
plant that is homozygous for green seeds. Create a Punnett square to determine the
possible genotypes and phenotypes of the offspring.

Possible genotypes:

Possible phenotypes:

Sample Problem 2 (Slide 11):

Two heterozygous yellow seed plants (Yy) are crossed. Determine the genotype and
phenotype ratios of the F2 generation offspring.

Genotype ratio:

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Name: ________________________ SBI3U Biology Date: ______________________
Ms. Paik
Phenotype ratio:

Sample Problem 3 (Slide 12)

In one cross of tomato plants, 1821 red tomato plants and 615 yellow tomato plants were
produced. Determine the probable genotype of the parents. Which allele is dominant?
Assume that the trait is influenced by only two alleles and follows the laws of Mendelian
inheritance. Use the letters R and r to represent the alleles.

Practice Problems:
1. A researcher crossed a homozygous yellow seed plant (YY) and a heterozygous
yellow seed plant (Yy). Determine the genotype and phenotype ratios of the
offspring.
2. A researcher crossed a heterozygous yellow seed plant (Yy) and a recessive green
seed plant (yy). Determine the genotype and phenotype ratios of the offspring.

Test Cross
● Cross of a plant with an unknown genotype (PP or Pp) with a homozygous recessive
individual

If PP: If Pp:

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Name: ________________________ SBI3U Biology Date: ______________________
Ms. Paik

● One of two possible results:

o 100% Pp 🡪 All purple flowers

o 50% pp, 50% Pp 🡪 half white flowers, half purple flower

Dihybrid Cross
Mendel’s Second Law of Heredity 🡪 (Law of Independent Assortment)
● Genes that are located on different chromosomes assort independently of one
another

Drawing a Punnett Square for Two Genes

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Name: ________________________ SBI3U Biology Date: ______________________
Ms. Paik
1. Draw a square with a 4 by 4 grid
2. Consider all possible gametes produced by the female parent. Write the alleles for
these gametes across the top of the square.
3. Consider all possible gametes produced by the male parent. Write the alleles for
these gametes down the side of the square
4. Complete the square by writing all possible allele combinations from the cross.
5. Determine the genotypic and phenotypic proportions of the offspring.

Sample Problem 1 (Slide 33):

In watermelons, the green colour gene (G) is dominant over the striped colour gene (g), and
round shape (R) is dominant over long shape (r). A heterozygous round green colour
(GgRr) watermelon plant is crossed with another heterozygous round green colour (GgRr)
plant. Determine the expected phenotypic ratio of the F1 generation.

Gametes:

Sample Problem 2 (Slide 34):

Assume that in guinea pigs, black fur (B) is dominant over white fur (b) and rough coat (R)
is dominant over a smooth coat (r). If a black, rough-furred guinea pig that is homozygous

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Name: ________________________ SBI3U Biology Date: ______________________
Ms. Paik
dominant for both traits (BBRR) is crossed with a white, smooth-furred guinea pig (bbrr),
what are the expected phenotypes in a large litter?

Pedigrees

All of the conclusions regarding gene action (dominant/recessive; codominant) we have

discussed so far have been obtained from analyzing the results of controlled crosses. In
some situations, we do not have the opportunity to perform controlled crosses. Rather we
need to analysis an existing population. This is always the case when studying human
genetics. Scientists have devised another approach, called pedigree analysis, to study the
inheritance of genes in humans. Pedigree analysis is also useful when studying any
population when progeny data from several generations is limited. Pedigree analysis is also
useful when studying species with a long generation time.

A series of symbols are used to represent different aspects of a pedigree. Below are the
principal symbols used when drawing a pedigree.

Once phenotypic data is collected from several generations and the pedigree is drawn,
careful analysis will allow you to determine whether the trait is dominant or recessive. Here
are some rules to follow.

For those traits exhibiting dominant gene action:

● affected individuals have at least one affected parent

● the phenotype generally appears every generation
● two unaffected parents only have unaffected offspring

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Name: ________________________ SBI3U Biology Date: ______________________
Ms. Paik
The following is the pedigree of a trait controlled by dominant gene action.

And for those traits exhibiting recessive gene action:

● unaffected parents can have affected offspring

● affected progeny are both male and female

The following is the pedigree of a trait controlled by recessive gene action.

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Name: ________________________ SBI3U Biology Date: ______________________
Ms. Paik

Sex-Linked Inheritance

Human Chromosomes
● Human somatic cells normally have 23 pairs of chromosomes
o 22 pairs of autosomes
o 1 pair of sex chromosomes
▪ XX = female

▪ XY = male
● Alleles present on the X chromosome in males will be expressed
● A trait determined by a gene on the sex chromosome is said to be sex-linked
● Sex-linked traits affect males more than females
o E.g. colour-blindness, hemophilia, muscular dystrophy and baldness

Solving Sex-Linked Problems

• Males can be:
– affected (XbY) or
– normal (XBY)

• Females can be:

– normal (XBXB)
– affected (XbXb) or
– a carrier (XBXb)

Colour-blindness is a recessive trait inherited through the X chromosome. A father who has
normal vision marries a woman who is a carrier for colour blindness. What is the chance
that this couple will have a colour blind son?

Practice
• In fruit flies, white eye colour is a sex-linked recessive trait
– List the genotype of
• A female carrier
• A white-eyed female
• A red-eyed male
• A red-eyed female
– What are the phenotypic ratios of the F1 generation when a red-eyed female
carrier and a red-eyed male are crossed?