Genetics

Chapter 3 –
the basic principles of heredity.
Mendelian genetics
Contents
 Mendelian inheritance
 The monohybrid cross – the principle of

dominance and segregation

 The dihybrid cross – the principle of

independent assortment
 Applications Mendelian principles
 The Chi-square test
1. History: Mendel- father of genetics
 Johann Gregor Mendel (1822–1884).
 Conducted breeding experiments from 1856 to

1863
 Presented his results publicly at meetings of the

Brno Natural Science Society in 1865 and his paper

was published in 1866.
 …
 1902: the basic principles of genetics was applied by

Archibald Garrod explaining the black urine disease.

 Scientists continued to research on plants and all

arrived at the conclusion similar to Mendel’s

Mendel’s Success
 Reasons:
◦ The plant is easy to cultivate: grow rapidly, easy to
observe characteristics, produce many offprings
◦ Varieties differed in various traits and genetically
pure
◦ Avoid characteristics appear in the range of
variation, focus on those exist in two differentiated
forms
◦ Mendel could adopt an experimental approach:
formulate the hypothesis based on the initial data 
conduct the additional crosses to test the
hypothesis  computed ratios of final results
 Mendel’s success was attributed to 7 traits:
Genetic
terms
2. Monohybrid crosses
 Mendel spent 2 years to select 34 varieties for his
study
 All varieties should be genetically pure
 Though plant can do self-fertilization, Mendel
conducted crosses between different plants at
first and then allowed them to self-fertilize
 The experiments were repeated on different traits
 Label: P – parent (genetically pure, homologous,
cross between different plants), F1: offsprings of
P (allowed to self-fertilize), F2: offspring of F1
(allowed to self-fertilize)
 Results
◦ F1: all offsprings show same characteristics (of one
of parents)
◦ F2: shows the ratio between characteristics 3:1
◦ The same ratio was observed from crosses of
different varieties
 What monohybrid crosses reveal?

 Each plant should posses two

factors, each comes from
father or mother
 The designated character is
marked with letter, ex., R-
dominant one, appears in F1;
r-resessive one, appears in P
and reappears in F2
 These 2 factors are separated
in gamete formation and
reunion in fertilization
 Because one factor is dominant over other, F1
presents all characters of dominant traits
 The self-fertilization
allowed genetic factors
within F1 to separate and
recombine
 The ratio 3:1 observed
when all F1 individual
produce gamete and
fertilize successfully
 Mendel continued to
generate F3 to confirm the
principles
 Conclusions by Mendel through monohybrid
cross
◦ The Principle of Segregation: each individual of
diploid organism possesses 2 alleles for any
characteristic, these 2 are separated in gamete
formation, one allele goes to each gamete
◦ Concept of dominance: when 2 different alleles
appears in genotype, only the traits of the
dominant one is observed in phenotype
Question 14
(Genetics – conceptual approach)
Blood type is not sex-
linked
Question 14 Blood type is not sex-
linked

IA IA or IA iB

iB iB
Question 14 Blood type is not sex-
linked

IA IA or IA iB

iB iB

There appeared
kittens blood type
B in offsprings 
iB iB
Question 14 Blood type is not sex-
linked

IA IA or IA iB

iB iB

There appeared
kittens blood type
B in offsprings 
iB iB

Genotype of
father cat???
Predicting the outcomes of the crosses
 The Punnett square
 Probability
 We can combine the rules of multiplication
and addition to solve complex problems in
Mendelian genetics.
 Let’s determine the probability of finding two

recessive phenotypes for at least two of three

traits resulting from a trihybrid cross between
pea plants that are PpYyRr and Ppyyrr.
◦ There are five possible genotypes that fulfill this
condition: ppyyRr, ppYyrr, Ppyyrr, PPyyrr, and ppyyrr.
◦ We would use the rule of multiplication to calculate
the probability for each of these genotypes and then
use the rule of addition to pool the probabilities for
fulfilling the condition of at least two recessive trait.
 The probability of producing a ppyyRr
offspring:
◦ The probability of producing pp = 1/2 x 1/2 = 1/4.
◦ The probability of producing yy = 1/2 x 1 = 1/2.
◦ The probability of producing Rr = 1/2 x 1 = 1/2.
◦ Therefore, the probability of all three being present
(ppyyRr) in one offspring is 1/4 x 1/2 x 1/2 = 1/16.
 For ppYyrr: 1/4 x 1/2 x 1/2 = 1/16.
 For Ppyyrr: 1/2 x 1/2 x 1/2 = 2/16
 for PPyyrr: 1/4 x 1/2 x 1/2 = 1/16
 for ppyyrr: 1/4 x 1/2 x 1/2 = 1/16
 Therefore, the chance of at least two recessive
traits is 6/16.

Copyright © 2002 Pearson Education, Inc., publishing as Benjamin Cummings

 Apply the Punnett square and rule of
probability to predict the ratio of progeny in
the crosses:
◦ Tt x tt
◦ Tt x Tt

YOU DO THESE ON YOUR NOTE

3. Multiple loci crosses
 Dihybrid crosses: Mendel conducted crosses
of varieties that differed in 2 characteristics
◦ Mendel obtained the result
in F2:
 Phenotypic ratio 9:3:3:1
 The principle of
independent
assortment: when
alleles are at different
loci, they separate
independently of one
another.
Applying probability ad Branch
diagram to dihybrid crosses
Applying probability ad Branch
diagram to dihybrid crosses
Topic for discussion

Dwarfism is a recessive trait in Hereford cattle. A

rancher in western Texas discovers that several of the
calves in his herd are dwarfs, and he wants to
eliminate this undesirable trait from the herd as
rapidly as possible.
# Suppose that the rancher hires you as a genetic
consultant to advise him on how to breed the
dwarfism trait out of the herd.
# What crosses would you advise the rancher to
conduct to ensure that the allele causing dwarfism is
eliminated from the herd?
SEND ME YOUR DISCUSSION THROUGH BLACKBOARD FORUM
Genetic analysis
 The complementation test in gene
identification
◦ Used for mutant screen: finding the mutant in the
population
4. Chi-square test on observed and
expected ratios
Lets see one example problem from this chapter
 The expected ratios are what base on the
Mendelian principles of independent
segregations
 The observed ratios are what obtained from

the real crosses.

 Chance plays a critical role in genetic crosses.

This ratio comes close to the expected one

when tested in the large sample number.
The goodness-of-fit Chi square test
(G-Cs)
 Test defines how well observed value fits the expected one
 Indicates the probability that the difference between the
observed and expected values is due to chance
 To use the G-Cs:
◦ Determine the expected results (number of progeny)
◦ Apply the formula
Σ means the sum of all
squared difference s between
observed and expected values

◦ Determine the probability associated with this calculated

Chi square: compare the Chi square value with the
theoretical value that has the same degree of freedom
(in G-cs, df equal n-1 where n is the number of different
expected phenotype)