Classical Mendelian Genetics

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Classical Genetics

Gregor Mendel
Vocabulary
Genetics The scientific study of heredity
Allele Alternate forms of a gene/factor
Genotype Combination of alleles in an organism
Phenotype How an organism appears
Dominant An allele which is expressed (masks
the other allele)
Recessive An allele which is present but remains
unexpressed

Homozygous Both alleles for a trait are the same

Heterozygous The organism’s alleles for a trait are


different
History

developed in the
mid 19th century by
Gregor Mendel

Developed the fundamental laws of heredity


Blended Concept of Inheritance vs Particulate Theory of
Inheritance
Mendel chose garden peas (Pisum sativum) as his subjects
as they are easily grown and their pollination is easily
controlled. He controlled pollination by manually moving
pollen between plants
Developed True-breeding plants by self-pollination
History

developed in the
mid 19th century by
Gregor Mendel
Why Mendel Was Successful:
• Unbiased
• Selected good model organism
• Used pure breeds as parents
• Large sample size
• Quantitative analysis
• Controlled experiments
• Studied obvious traits
History

developed in the
mid 19th century by
Gregor Mendel
MENDEL’S CONCLUSIONS
Genes do not blend together. The hereditary
determinants, or genes, maintain their integrity
from generation to generation. They do not blend
together, and they do not acquire characteristics in
response to actions by an individual
Peas have two versions, or alleles, of each gene.
This is also true for many other organisms.
Each gamete contains one allele of each gene.
Pairs of alleles segregate during the formation
of gametes
Males and females contribute equally to the
genotype of their offspring. When gametes
fuse, offspring acquire a total of two alleles—
one from each parent.
Some alleles are dominant to others. When a
dominant and recessive allele for the same gene
are found in the same individual, that individual
exhibits the dominant phenotype.
History

developed in the
mid 19th century by
Gregor Mendel
Laws of Inheritance
Law of
Segregation
Alleles occur in pairs and that in the
formation of gametes, these segregate so
that only one member of a pair goes into
a particular gamete.

Law of
Independent Assortment
based on dihybrid crosses where two genes
are considered simultaneously
alleles in different gene pairs separate
cleanly from each other and randomly
combine during gamete formation
Punnett Squares
Genetic problems can be easily solved using
a tool called a punnett square.

Tool for calculating genetic probabilities

A punnett square
Monohybrid cross

Problem

Tallness (T) is dominant over shortness (t) in


pea plants. A Homozygous tall plant (TT) is
crossed with a short plant (tt). What is the
genotypic makeup of the offspring? The
phenotypic makeup ?
Punnett process
Determine alleles of
each parent
TT tt

Take each possible


allele of each
parent

separate them,

and place each


allele on the square
Punnett process

Write the letter for


each allele across
each column or down
each row.
Punnett process

If F1 offspring (Tt) self


pollinates, what
genotypes and
phenotypes would be
obtained?

parent’s contribution:
T and t
Punnett process
Results:

3 genotypes (TT, Tt, & tt)


1:2:1 genotypic ratio

2 different phenotypes
(Tall & short)
3:1 phenotypic ratio
Dihybrid crosses
Dihybrid crosses are made when 2
independent gene pairs are analyzed at
the same time

Example:

 Plant height (Tt)


tall is dominant to short

 Flowercolor (Ww)
Purple is dominant to white
Dihybrid crosses
Example
P: tall, purple plant x short, white plant

Gamete of
tall, purple plant

Gamete of
short,white plant
F1 generation
Dihybrid crosses

P: TtWw x TtWw

F2 Generation
Dihybrid crosses
9:3:3:1 phenotypic ratio
9/16 - both dominant traits
3/16 & 3/16 one of the recessive traits
1/16 - both recessive traits
DICHOTOMOUS BRANCHING METHOD
To get the F2 genotypic ratio of the cross RrYy x RrYy, derive the expected
genotypic ratios for each gene pair:
Rr x Rr = 1 RR: 2Rr: 1 rr Yy x Yy = 1 YY: 2Yy : 1 yy

Combine the different genotypes from each gene pair.

1YY 1RRYY
1 RR 2Yy 2RRYy
1 yy 1RRyy

1YY 2RrYY
2 Rr 2Yy 4RrYy
1yy 2Rryy

1YY 1rrYY
1rr 2Yy 2rrYy
1yy 1rryy
MENDELIAN DISORDERS IN HUMANS

ptosis

Progeria

polydactyly
achondroplasia
ALBINISM
ALBINISM
Chromosomes and Classical Genetics

Walter Sutton (1902)


“chromosomes were the physical
carriers of Mendel's alleles”

Question:
Why are the number of alleles which
undergo independent assortment greater
than the number of chromosomes of an
organism?

 Linkage and crossing over


Sex Linkage

All chromosomes are homologous


except on sex chromosomes.
X or Y

XX – female XY – male

X a ≠ Y a
Human Sex Linkage
Hemophilia
Disorder of the blood where clotting does
not occur properly due to a faulty protein.
Hemophilia and Royalty
Other Factors Multiple Alleles
Phenotypes are controlled by more than 1
allele.
e.g. Blood types

ABO
Rh Blood
Factortyping
3 alleles determine blood types
A, B, and O
Rh + Rh-
blood type combinations
A
B A+ B+ AB+ O+
A- B- AB-
AB (Universal recipient)
O (Universal donor)
O-
Other Factors Incomplete Dominance

Some alleles for a gene


are not completely
dominant over the others.
Other Factors Continuous Variation

traits that have a


wide range of
continuous values.
e.g. Human height
Other Factors Gene Interactions

Two gene pairs of different loci interact


together for one phenotype

e.g. Epistasis
Other Factors Environmental Effects

Sometimes genes will not be fully


expressed owing to external factors.

Example: Human height

Phenotype = Genotype x Environment


The
Average
American
Phenotype

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