MENDEL AND THE
GENE IDEA
GREGOR MENDEL
Austrian monk
Brought experimental and
quantitative approach to
genetics
Bred pea plants to study
inhertance
Why peas?
Control mating (self- vs. cross-
pollination)
Many varieties available
Short generation time
P (parental) generation = true breeding plants
F1 (first filial) generation = offspring
F2 (second filial) generation = F1 offspring
ALLELES: ALTERNATE VERSIONS OF A GENE
7 CHARACTERS IN
PEA PLANTS
Dominant vs. Recessive
(expressed) or (hidden)
MENDEL’S PRINCIPLES
1. Alternate version of genes (alleles) cause
variations in inherited characteristics among
offspring.
2. For each character, every organism inherits
one allele from each parent.
3. If 2 alleles are different, the dominant allele
will be fully expressed; the recessive allele
will have no noticeable effect on offspring’s
appearance.
4. Law of Segregation: the 2 alleles for each
character separate during gamete formation.
LAW OF
SEGREGATION
dominant (P), recessive (p)
homozygous = 2 same alleles (PP or pp)
heterozygous = 2 different alleles (Pp)
Phenotype: expressed physical traits
Genotype: genetic make-up
PUNNETT SQUARE
Device for predicting offspring from a cross
Example: Pp x Pp (P=purple, p=white)
Genotypic Ratio:
Phenotypic Ratio:
Testcross: determine if dominant trait is
homozygous or heterozygous by crossing with
recessive (pp)
Law of Independent Assortment:
Each pair of alleles segregates (separates)
independently during gamete formation
Eg. color is separate from shape
Monohybrid cross: study 1 character
eg. flower color
Dihybrid cross: study 2 characters
eg. flower color & seed shape
DIHYBRID CROSS
Example: AaBb x AaBb
THE LAWS OF PROBABILITY GOVERN
MENDELIAN INHERITANCE
Rule of Multiplication:
probability that 2+ independent events will occur
together in a specific combination multiply
probabilities of each event
Ex. 1: probability of throwing 2 sixes
1/6 x 1/6 = 1/36
Ex. 2: probability of having 5 boys in a row
½ x ½ x ½ x ½ x ½ = 1/32
Ex. 3: If cross AABbCc x AaBbCc, probability of
offspring with AaBbcc is:
Answer: ½ x ½ x ¼ = 1/16
THE LAWS OF PROBABILITY GOVERN
MENDELIAN INHERITANCE
Rule of Addition:
Probability that 2+ mutually exclusive events will
occur add together individual probabilities
Ex. 1: chances of throwing a die that will land on 4 or
5?
1/6 + 1/6 = 1/3
SEGREGATION OF ALLELES AND
FERTILIZATION AS CHANCE EVENTS
EXTENDING MENDELIAN GENETICS
The relationship between genotype and phenotype
is rarely simple
Complete Dominance:
heterozygote and homozygote
for dominant allele are
indistinguishable
• Eg. YY or Yy = yellow seed
Incomplete Dominance: F1
hybrids have appearance that
is between that of 2 parents
• Eg. red x white = pink flowers
Codominance: phenotype of both alleles is expressed
• Eg. red hair x white hairs = roan horses
Multiple Alleles: gene has 2+ alleles
• Eg. human ABO blood groups
• Alleles = IA, IB, i
• IA,IB = Codominant
BLOOD TYPING
Phenotype
Genotype(s)
(Blood Group)
Type A IAIA or IAi
Type B IBIB or IBi
Type AB IA IB
Type O ii
BLOOD TRANSFUSIONS
Blood transfusions must match blood type
Mixing of foreign blood clumping death
Rh factor: protein found on RBC’s (Rh+ = has
protein, Rh- = no protein)
Polygenic Inheritance: the effect of 2 or more
genes acting upon a single phenotypic character
(eg. skin color, height)
Nature and Nurture: both genetic and
environmental factors influence phenotype
Hydrangea flowers vary in shade and intensity of color
depending on acidity and aluminum content of the soil.
Mendelian Inheritance in Humans
Pedigree: diagram that shows the relationship
between parents/offspring across 2+ generations
Woman =
Man =
Trait expressed:
GENETIC DISORDERS
Autosomal Recessive Autosomal Dominant
Cystic fibrosis (CF) Huntington’s disease
Tay-Sachs disease (HD)
Sickle-cell disease
Lethal dominant allele
Phenylketonuria
(PKU)
