Basic genetics

Haixu Tang
School of Informatics

Mendels two innovations

Developed pure lines
a population that breeds true for a particular
trait

Counted his results and kept statistical

notes

Phenotypes of Mendel's pea plants

round or wrinkled seed phenotype

yellow or green seed phenotype
red or white flower phenotype
tall or dwarf plant phenotype

Results from Mendel's

Experiments
Parental Cross

F1 Phenotype F2 Phenotypic Ratio

F2 Ratio

Round x Wrinkled
Seed

Round

5474 Round:1850
Wrinkled

2.96:1

Yellow x Green Seeds

Yellow

6022 Yellow:2001 Green

3.01:1

Red x White Flowers

Red

705 Red:224 White

3.15:1

Tall x Dwarf Plants

Tall

l787 Tall:227 Dwarf

2.84:1

Phenotypes
Dominant - the allele that expresses itself at the
expense of an alternate allele; the phenotype
that is expressed in the F1 generation from the
cross of two pure lines
Recessive - an allele whose expression is
suppressed in the presence of a dominant allele;
the phenotype that disappears in the F1
generation from the cross of two pure lines and
reappears in the F2 generation

Conclusion

The hereditary determinants are of a particulate

nature. These determinants are called genes.
Each parent has a gene pair in each cell for each trait
studied. The F1 from a cross of two pure lines contains
one allele for the dominant phenotype and one for the
recessive phenotype. These two alleles comprise the
gene pair.
One member of the gene pair segregates into a
gamete, thus each gamete only carries one member of
the gene pair.
Gametes unite at random and irrespective of the other
gene pairs involved.

Some terms
Allele - one alternative form of a given allelic pair; tall and dwarf are
the alleles for the height of a pea plant; more than two alleles can
exist for any specific gene, but only two of them will be found within
any individual
Allelic pair - the combination of two alleles which comprise the
gene pair
Homozygote - an individual which contains only one allele at the
allelic pair; for example DD is homozygous dominant and dd is
homozygous recessive; pure lines are homozygous for the gene of
interest
Heterozygote - an individual which contains one of each member of
the gene pair; for example the Dd heterozygote
Genotype - the specific allelic combination for a certain gene or set
of genes

F1: Symbol representation

F2: Punnett Square

Union of Gametes
At Random

DD
(Tall)

Dd
(Tall)

Dd
(Tall)

dd
(Short)

Mendel's First Law

The law of segregation: during gamete
formation each member of the allelic pair
separates from the other member to form
the genetic constitution of the gamete

Test the hypothesis

Genotype of the F2 individuals

Phenotypes

Genotypes Genetic Description

F2 Tall Plants

1/3 DD
2/3 Dd

F2 Dwarf Plants all dd

Pure line homozygote dominant

Heterozygotes
Pure line homozygote recessive

Thus the F2 is genotypically 1/4 Dd : 1/2 Dd : 1/4 dd

Backcross: Dd x dd
The cross of an F1 hybrid to one of the
homozygous parents; for pea plant height
the cross would be Dd x DD or Dd x dd;
most often, though a backcross is a cross
to a fully recessive parent
Backcross One or (BC1) Phenotypes: 1 Tall : 1 Dwarf
BC1 Genotypes: 1 Dd : 1 dd

Monohybrid
Monohybrid cross - a cross between
parents that differ at a single gene pair
(usually AA x aa)
Monohybrid - the offspring of two parents
that are homozygous for alternate alleles
of a gene pair
Remember --- a monohybrid cross is not
the cross of two monohybrids.

Variations to Mendel's First Law

of Genetics
Codominance - a relationship among alleles where both
alleles contribute to the phenotype of the heterozygote
Incomplete dominance - the F1 produces a phenotype
quantitatively intermediate between the two homozygous
parents;

Pedigree Analysis

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

Traits exhibiting recessive gene

action
unaffected parents can have affected
offspring
affected progeny are both male and
female

Mendel's Law of Independent

Assortment
We have followed the expression of only
one gene. Mendel also performed crosses
in which he followed the segregation of
two genes. These experiments formed the
basis of his discovery of his second law,
the law of independent assortment.

Dihybrid cross
Dihybrid cross - a cross between two
parents that differ by two pairs of alleles
(AABB x aabb)
Dihybrid- an individual heterozygous for
two pairs of alleles (AaBb)

Mendels experiment
Parental Cross: Yellow, Round Seed x Green,
Wrinkled Seed
F1 Generation: All yellow, round
F2 Generation: 9 Yellow, Round, 3 Yellow,
Wrinkled, 3 Green, Round, 1 Green, Wrinkled

Seed Color: Yellow = G; Green = g

Seed Shape: Round = W; Wrinkled = w

Parental cross

Female Gametes
GW
GGWW
GW (Yellow,
round)

Gw

gw

GgWW
(Yellow,
round)

GgWw
(Yellow,
round)

Gw

GGWw GGww GgWw

(Yellow, (Yellow, (Yellow,
round) wrinkled) round)

Ggww
(Yellow,
wrinkled)

gW

GgWW
(Yellow,
round)

gw

GgWw
Ggww
ggWw
(Yellow, (Yellow, (Green,
round) wrinkled) round)

Male
Gametes

GGWw
(Yellow,
round)

gW

GgWw
(Yellow,
round)

ggWW
(Green,
round)

ggWw
(Green,ROUND)
ggww
(Green,
wrinkled)

Phenotype

General Genotype

9 Yellow, Round Seed

G_W_

3 Yellow, Wrinkled Seed

G_ww

3 Green, Round Seed

ggW_

1 Green, Wrinkled Seed

ggww

Mendel's Second Law - the law of

independent assortment
During gamete formation the segregation
of the alleles of one allelic pair is
independent of the segregation of the
alleles of another allelic pair.

backcross - F1 dihybrid x

Female Gametes

Male
Gamet
es

gw

GW

Gw

gW

gw

GgWw
(Yellow,
round)

Ggww
(Yellow,
wrinkled)

ggWw
(Green,
round)

ggww
(Green,
wrinkled)

The phenotypic ratio of the test cross is:

1 Yellow, Round Seed
1 Yellow, Wrinkled Seed
1 Green, Round Seed
1 Green, Wrinkled Seed

The Chi-Square Test

An important question to answer in any
genetic experiment is how can we decide
if our data fits any of the Mendelian ratios
we have discussed. A statistical test that
can test out ratios is the Chi-Square or
Goodness of Fit test.

Degrees of freedom (df) = n-1, where n is the number of classes

An example
Let's test the following data to determine if it fits a 9:3:3:1 ratio.
Observed Values

Expected Values

315 Round, Yellow Seed

(9/16)(556) = 312.75 Round, Yellow Seed

108 Round, Green Seed

(3/16)(556) = 104.25 Round, Green Seed

101 Wrinkled, Yellow Seed

(3/16)(556) = 104.25 Wrinkled, Yellow

32 Wrinkled, Green
556 Total Seeds

Number of classes (n) = 4

(1/16)(556) = 34.75 Wrinkled, Green

556.00 Total Seeds

df = n-1 + 4-1 = 3
Chi-square value = 0.47

A Chi-Square Table
Probability
Degrees
of
Freedom

0.9

0.02

0.21

0.58

0.5

0.46

1.39

2.37

0.1

0
.
0
5

0.01

2.71

3
.
8
4

6.64

4.61

5
.
9
9

9.21

6.25

7
.
8
2

11.35

Pleiotropic Effects and Lethal

Genes
In 1904, a cross was made between a
yellow-coated mouse and a mouse with a
gray coat. The gray- coated mouse was
extensively inbred and therefore was
considered to be pure bred.

 Next a cross was made between two

yellow mice. What genetic ratio would we
expect to see? Yy x Yy should give a ratio
of 3 yellow:1 gray. The result, though, was
a ratio of 2 yellow to 1 gray mice. How
can this result be explained? Let's first
set up a Punnett Square.

Testcross
All testcross data with the yellow mice give
a 1:1 ratio. This ratio is typical of what is
seen with heterozygous individuals.

All of the yellow mice from the cross of two

heterozygous yellow mice are
genotypically Yy. Somehow the YY
genotype is lethal. The 2:1 ratio is the
typical ratio for a lethal gene.

Lethal gene
Lethal Gene - a gene that leads to the
death of an individual; these can be either
dominant or recessive in nature.
Pleiotropic gene - a gene that affects
more than one phenotype

Gene Interactions
Rose

Single

Pea

Walnut

Phenotypes

Genotypes

Frequency

Walnut

R_P_

9/16

Rose

R_pp

3/16

Pea

rrP_

3/16

Single

rrpp

1/16

Epistasis
The interaction between two or more
genes to control a single phenotype

Modifier Genes
Instead of masking the effects of another gene, a gene can modify
the expression of a second gene. In mice, coat color is controlled by
the B gene. The B allele conditions black coat color and is dominant
to the b allele that produces a brown coat. The intensity of the color,
either black or brown is controlled by another gene, the D gene. At
this gene, the dominant D allele controls full color whereas the
recessive d allele conditions a dilute or faded expression of the color
expression at the B gene. Therefore, if a cross is made among mice
that are BdDd, the following phenotypic distribution will be seen:

9 B_D_ (black)
3 B_dd (dilute black)
3 bbD_ (brown)
1 bbdd (dilute brown)

The D gene does not mask the effect of the B gene, rather it
modifies its expression.

Gene linkage

One experiment was performed by Bateson and

Punnett with sweet peas. They performed a
typical dihybrid cross between one pure line with
purple flowers and long pollen grains and a
second pure line with red flowers and round
pollen grains. Because they knew that purple
flowers and long pollen grains were both
dominant, they expected a typical 9:3:3:1 ratio
when the F1 plants were crossed.

Observed

Expected

Purple, long (P_L_)

284

215

Purple, round (P_ll)

21

71

Red, long (ppL_)

21

71

Red, round (ppll)

55

24

Total

381

381

Linked Genes On The Same

Chromosome

F1 Gamete

Testcross Distribution

Gamete Type

pr+ vg+

1339

Parental

pr+ vg

151

Recombinant

pr vg+

154

Recombinant

pr vg

1195

Parental

Coupling and repulsion

F1 Gamete

Testcross Distribution

Gamete Type

pr+ vg+

1339

Parental

pr+ vg

151

Recombinant

pr vg+

154

Recombinant

pr vg

1195

Parental

Genotype

Observed

Type of Gamete

ABC

390

Parental

abc

374

Parental

AbC

27

Single-crossover between genes C and B

aBc

30

Single-crossover between genes C and B

ABc

Double-crossover

abC

Double-crossover

Abc

81

Single-crossover between genes A and C

aBC

85

Single-crossover between genes A and C

Total

1000