Classical Mendelian Genetics
Classical Mendelian Genetics
Classical Mendelian 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
developed in the
mid 19th century by
Gregor Mendel
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.
A punnett square
Monohybrid cross
Problem
separate them,
parent’s contribution:
T and t
Punnett process
Results:
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:
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
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
Question:
Why are the number of alleles which
undergo independent assortment greater
than the number of chromosomes of an
organism?
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
e.g. Epistasis
Other Factors Environmental Effects