Genetics

Genetics
Genetics is the Study of
heredity (the transmission of
traits from generation to
generation).
 Gregor Mendel
Johann Gregor Mendel is considered the father of genetics.
Responsible for the Law governing Inheritance of Traits
studied the inheritance of traits in pea
Plants
Contrasting characteristics include:
• Seeds – round or wrinkled
• Seed Color – yellow or green
• Height – TALL or short
• Flowers – white or purple
• pod color – yellow or green
• Etc.
 Mendel concluded that there must be two forms of the
same gene for each trait he studied. Different forms of the
same gene are called alleles. When one trait is “stronger”
than the other trait, the “stronger” trait is called dominant
trait or allele, and the one that is hidden is called the
recessive trait or allele.
 A capital letter is used to represent the dominant form of an allele or gene, and a
lower case letter is used to represent the recessive form of the allele. In general,
the first letter of the dominant trait is used to determine the symbol. For example,
in pea plants, tall is the dominant trait for plant height, so T would be used for tall
and t for short.
 When biologists describe the traits of an organism, they are refereeing to the organism’s
phenotype. For example, for seed color, a pea plant can display a phenotype of yellow or green.

The genotype is the actual gene makeup of an organism. In other words, what forms of
the alleles of a gene it contains. An organism could have the following genotypes:
 In previous slides, you learned that the plants that Mendel called true breeding were
homozygous dominant and homozygous recessive. In the diagram below, the phenotype is
shown in purple and the genotype is shown in green.
 Mendel Developed Principles
of
1. Dominance: one form of a hereditary trait
dominates or prevents the expression of the
recessive trait.
2. Segregation: Splitting of chromosomes
during meiosis
3. Recombination: Combining chromosomes
from both the sperm and egg (fertilization)
4. Independent Assortment: Independent
segregation of genes during the formation of
gametes.
 alleles
An allele is one of two or more versions of DNA sequence (a single base or a segment of
bases) at a given genomic location. An individual inherits two alleles, one from each
parent, for any given genomic location where such variation exists. If the two alleles are
the same, the individual is homozygous for that allele. If the alleles are different, the
individual is heterozygous.
Alleles are slightly different versions of a gene that are
found at the same location on a chromosome.
Individuals inherit one of these from each parent.
A dominant allele produces a dominant phenotype in individuals
who have one copy of the allele, which can come from just
one parent. For a recessive allele to produce a recessive
phenotype, the individual must have two copies, one from
each parent. An individual with one dominant and one
recessive allele for a gene will have the dominant phenotype.
They are generally considered “carriers” of the recessive
allele: the recessive allele is there, but the recessive
phenotype is not.
 For each genotype below, CIRCLE whether it is heterozygous
or homozygous.
Then CIRCLE whether the dominant trait or the recessive trait will
show up

1. AA Heterozygous or Homozygous DOMINANT or recessive

2. bb Heterozygous or Homozygous DOMINANT or recessive
3. Cc Heterozygous or Homozygous DOMINANT or recessive
4. DD Heterozygous or Homozygous DOMINANT or recessive
5. Ee Heterozygous or Homozygous DOMINANT or recessive
6. ff Heterozygous or Homozygous DOMINANT or recessive
For each of the genotypes below determine what
phenotypes would be possible.

Brown eyes are dominant to blue eyes

7. BB brown or blue
8. Bb brown or blue
9. bb brown or blue
Round seeds are dominant to wrinkled
seeds.
10. RR round or wrinkled
11. Rr round or wrinkled
12. rr round or wrinkled
For each phenotype below, list the
genotypes (2 letters/alleles).

Straight (H) hair is dominant to curly

(h).
13. ____ straight
14. ____ straight
15. ____ curly
Pointed face (F) is dominant to round
(f).
16. _____ pointed
17. _____ pointed
18. _____ round
 Probability of
Inheritance
The value of studying genetics is in understanding how we can predict the
likelihood of inheriting particular traits. This can help plant and animal
breeders in developing varieties that have more desirable qualities. It can also
help people explain and predict patterns of inheritance in family lines.
One of the easiest ways to calculate the mathematical probability of inheriting a
specific trait was invented by an early 20th century English geneticist named Reginald
Punnett click this icon to hear the preceding name pronounced. His technique
employs what we now call a Punnett square. This is a simple graphical way of
discovering all of the potential combinations of genotypes that can occur in children,
given the genotypes of their parents. It also shows us the odds of each of the
offspring genotypes occurring.
Setting up and using a Punnett square is quite simple once you
understand how it works. You begin by drawing a grid of
perpendicular lines:
Next, you put the genotype of one parent across the top and that of the other
parent down the left side. For example, if parent pea plant genotypes were YY
and GG respectively, the setup would be:
Next, all you have to do is fill in the boxes by copying the row and column-head
letters across or down into the empty squares. This gives us the predicted
frequency of all of the potential genotypes among the offspring each time
reproduction occurs.
 In another example (shown below), if the parent plants both have heterozygous (YG) genotypes,
there will be 25% YY, 50% YG, and 25% GG offspring on average. These percentages are
determined based on the fact that each of the 4 offspring boxes in a Punnett square is 25% (1 out
of 4). As to phenotypes, 75% will be Y and only 25% will be G. These will be the odds every time a
new offspring is conceived by parents with YG genotypes.
If both parents are carriers of the recessive
allele for a disorder, all of their children will
face the following odds of inheriting it:
25% chance of having the recessive
disorder
50% chance of being a healthy carrier
25% chance of being healthy and not have
the recessive allele at all
If a carrier (Aa) for such a recessive disease mates with someone who has it (aa), the
likelihood of their children also inheriting the condition is far greater (as shown
below). On average, half of the children will be heterozygous (Aa) and, therefore,
carriers. The remaining half will inherit 2 recessive alleles (aa) and develop the
disease.
If one parent is a carrier and
the other has a
recessive disorder, their
children will have the
following odds of inheriting it:
50% chance of being a healthy
carrier
50% chance having the
recessive disorder