History of Genetics

• Spermists
– “animalcules” in the sperm of
BSB 212 humans and other animals
Introduction to Genetics
• Ovists
Ms. Lesedi Williams – that the future human was in
2011 the egg, and that sperm 1694
merely stimulated the
growth of the egg

Gregor Mendel (1822-1884)

• Pangenesis
– males and females formed "pangenes" in • Developed the fundamental principles
every organ which move in the blood to the
of inheritance that would become
genitals
modern day genetics

• 19th century
– The mixture of sperm and egg resulted in 1. Law of segregation
progeny that were a "blend" of two parents'
characteristics 2. Law of independent assortment
– Sex cells are known collectively as gametes
(gamos, Greek, meaning marriage)

Law of Segregation • Mendel performed several monohybrid

• Each genotype consists of two alleles
which segregate at random during
meiosis such that only one allele will
enter each gamete
crosses (one trait observed)
• Studies were conducted on peas
– Seed shape and colour
– Pod shape and colour
– Flower position and colour
– Stem height

1
 Mendel’s experiments with the Garden Pea
7 traits examined
• When crossing “pure breeding” plants,
only one trait was present in the first
generation

• The trait not shown in the F1

reappeared in the F2 in about 25% of
the offspring

Conclusions
• Factors could be hidden or unexpressed in
offspring, these are the recessive traits - “a”
• Factors that are always expressed are
therefore dominant traits - “A”
• The term phenotype refers to the outward
appearance of a trait, while the term genotype
is used for the genetic makeup of an organism.
• Male and female both contributed equally to
the offspring's genetic makeup
• Therefore offspring contain two different
forms of a trait.
– Different forms of a gene are called alleles.
– Homozygous contain identical alleles of a given
gene e.g. AA, aa
– Heterozygous contains different alleles of a given
gene e.g. Aa

Then cross the resulting offspring i.e.

Offspring inherit alleles from both parents. Ss x Ss
Chances of inheriting an allele from a parent
is 50% or ½ .
½S ½ X½ =¼ SS
Consider crossing Parent SS with parent ss.
½ S
S being smooth seed texture and s being ½s ½ X½ =¼ Ss
Ss
wrinkled. Smooth is dominant over wrinkled
½S ½ X½ =¼ sS
SS X ss All heterozygous Ss ½ s
½s ½ X½ =¼ ss
F1 S S
All Smooth
s Ss Ss
s Ss Ss Genotypes : ¼ SS, ½ Ss and ¼ ss
Phenotypes: ¾ Smooth and ¼ wrinkled

2
 The two alleles
making up each
Law of Independent
genotype are
located on deferent
Assortment
Homologous numbers of a
chromosomes homologous
replicate chromosome pair
and separate during • The alleles for one trait segregate
anaphase 1 of
meiosis 1 and assort independently of the
alleles of a different trait

Two alleles
segregate into
daughter cells

The alleles for each of the two • When considering two traits per cross the
traits are located on different
pairs of homologous chromosomes resulting (F2) generation did not have 3:1
dominant: recessive phenotype ratios.
• Instead of 4 possible genotypes from a
Each pair orientate
independently on monohybrid cross, dihybrid crosses have as
the required plane many as 16 possible genotypes
during metaphase 1
of meiosis 1

• Consider crossing parent SSYY with ssyy

During Meiosis 1, – S (smooth) is dominant to s (wrinkle)
homologous – Y (Yellow) is dominant to y (green)
chromosomes are
separated into new
cells

¾ Y_ ¾ X ¾ = 9/16 S_Y_ Smooth and Yellow

We can calculate ¾ S_
the outcome of all
¼ yy ¾ X ¼ = 3/16 S_yy
dihybrid crosses Smooth and Green
using a punnett
square or
preferably a ¾ Y_ ¼ X ¾ = 3/16 ssY_ Wrinkled and Yellow
forked diagram
¼ ss
¼ yy ¼ X ¼ = 1/16 ssyy Wrinkled and Green

Phenotypic ratio 9:3:3:1

3
What genotypic and phenotype frequencies would you
expect in the progeny of a smooth yellow pod (SsYY) and
wrinkled yellow (ssYy)?

½ YY ½ X½ =¼ SsYY Smooth and Yellow

½ Ss

½ Yy ½ X½=¼ SsYy Smooth and Yellow

½ YY ½ X½=¼ ssYY Wrinkled and Yellow

½ ss
½ Yy ½ X½=¼ ssYy Wrinkled and Yellow

½ smooth & yellow ½ wrinkled &yellow

Levels of Dominance Complete Dominance

Genes code for specific cellular products The product of a single allele is
which determine the phenotype significant to give full expression of the
phenotype

transcription translation
Level of expression

DNA mRNA Protein

The activity of gene products

determine what level of dominance a
trait shows AA Aa aa

Genotypes

In the snap-dragon, crosses between red and

Incomplete Dominance white flower yield pink progeny

Two copies of an allele are necessary for What are the genotypes of red, pink and white flowers?
full expression of the phenotype. The Red =RR Pink= RW White=WW
heterozygous has an intermediate
phenotype
What phenotype frequencies would you expect in the
Level of expression

progeny of a pink and white flowers?

R W
½ pink
W RW WW
½ white
AA Aa aa W RW WW
Genotypes

4
Yellow coat colour in guinea pigs is produced by Co-dominance
homozygous genotype CYCY; cream colour by
heterozygous genotype CYCW; and white colour by Two different alleles are both fully
homozygous genotype CWCW functionally expressed in the
What genotypic and phenotypic ratios are produced by heterozygote
mating between cream-coloured individuals?

Level of expression
CY CW
CY CY CY CY CW

CW CY CW CW CW
AA AB BB

1 yellow: 2 cream: 1 white Genotypes

Multiple Allelism Explaining in terms of gene product

Blood Genotype Gene product
The genotype of an individual can only Group
contain two alleles, but they may be many A IAIA, IAIO A cell-surface antigens
different alleles for a particular gene in a
population, hence multiple alleleism B IBIB, IBIO B cell-surface antigens

Eg O IOIO none

the ABO blood group system in humans has AB IAIB A and B cell-surface
3 alleles IA, IB and IO antigens

These display complete and incomplete

The rhesus group shows complete dominance with
dominance rh+ dominant to rh-

What is the probability of parents with the

genotype IAIB rh+ rh- and IAIO rh+ rh- producing
a blood group B- child?

IBIO rh- rh- genotype gives B- Phenotype

P(IBIO) =¼
P (rh- rh-) = ¼

So P(IBIO rh- rh-) = ¼ X ¼ = 1/16