Genetic Variation | chapter 2.

2  leads to genetic variation, depending on

which chromosome (paternal
Inquiry question: How can the genetic similarities
or maternal) of each pair ends up in which
and differences within and between species be
daughter cell
compared
 Many combinations of chromosomes are
Examining variation and variability will allow us to possible in gametes as a result of meiosis,
view the presence of genetic differences resulting in a variety of gametes forming

Variation is evident in individuals The genetic consequences of fertilisation:

 E.g differences in fur colour or height  Two haploid gametes fuse to form a
diploid zygote
Variability relates to the different forms of a gene
within a population. That is, the total of all alleles The genes in the zygote are a combination of the
present in the gene pool of a population genes contributed by the parents

 E.g coat colour in a population of Combinations of gametes during fusion of the

Australian kelpie dogs includes black, red, sperm cell and egg cell, increase variation that
blue or fawn leads to greater variability in a population of the
organism (50% paternal and 50% maternal)

To help understand the genetic differences and The mutation may arise at any point in the process,
similarities we can examine the  more so commonly during the replication of DNA

crossing over of homologous chromosomes |

genetic consequences of meiosis
Consequences of self-fertilisation or cross
 One cell undergoes two meiotic divisions fertilisation
to generate 4 haploid cells genetically dissimilar parents of the same species
produce offspring that differ & vice versa
 During this process the 2 sets of
chromosomes one paternal and one Offspring from cross-fertilisation between plants
maternal set, each pair termed will have greater genetic diversity than those of
homologous pair self-fertilisation

Homologous pair means  having the same offspring arising from gametes produced by
relation, relative position, or structure unisexual animals (having both reproductive
organs) have greater genetic diversity than
Therefore chromosome carries alleles for the same hermaphroditic (bisexual) animals
genes (traits)

When the homologous pairs of chromosomes align

in early meiosis, each pair is called bivalent Variability:

Once crossing over occurs (synapsis), a new  Variations in the gene content of the
combination will result and random segregation gametes give rise to individuals in the
occurs. population with new gene variations,
increasing variability
Allowing the individual alleles of maternally
(mother) and paternally (father) derived
 Mutations may further contribute to
chromosomes to assort independently
genetic variation in an individual and
Independent assortment is what chromosome genetic variability within a population
(paternal or maternal) of each pair, ends up in
Limitations
which daughter cell
Models of meiosis are simplifications of the actual
Important to understand that synapsis does not link
process, designed to demonstrate specific aspects,
all genes on a chromosome, it introduces genetic
such as the introduction of genetic variation
variation, hence 
These models have limitations, for example in not In short | summation
demonstrating all aspects of a process
Alleles are an alternative form of the same gene
and occur as pairs in a diploid individual
Genotypes and inheritance patterns | chapter 2.3 Alleles may differ or be the same in an individual,
that is
Autosomal recessive inheritance
 Pure breeding  homozygous
Autosomal recessive is one of several ways that a
 Hybrid  heterozygous
trait, disorder, or disease can be passed down
through families As they occur as pairs in diploid cells, they
contribute to the organism's phenotype (outward
It is a version of each characteristic or trait in an
appearance of the organism) via shared genetic
individual that is inherited from both parents and is
information ( alleles )
therefore controlled by a pair of inherited factors
called alleles However, before this occurs the diploid cell will
experience “Genotyping” which is the process of
This is based on Mendel’s model of inheritance
determining differences in the genetic make-up
was based on a specific set of conditions. A pattern
of inheritance known as an autosomal recessive DNA sequencing and other methods can be used to
inheritance is: determine the genotypes ( punnet squares )

Once this undergoes then Mendel’s terms ‘pure-

breeding’ and ‘hybrid’ known as Homozygous
Mendel’s first law | Dominance
and heterozygous genotypes are used to
A trait expressed in Hybrid individuals is known as ‘categorise’ the genotypes
the dominant allele, whereas the hidden trait is the
 homozygous’ as in (e.g. TT or tt)
recessive allele
‘heterozygous’ (e.g. Tt) respectively
For a recessive trait to be expressed, both alleles in
an individual must be recessive The term ‘homozygous’ is derived from two words:
homo = the same; and zygote = a fertilised
Mendel’s first law | segregation
the egg that has received half its genetic material
During gamete formation, the pairs of alleles for a from each parent
trait segregate, where each gamete receives only
one allele for the trait/ gene
Terms to familiarise with | Terminology
Mendel’s second law | independent assortment
Genes: found on chromosomes and determine
The pairs of alleles for each trait separate
characteristics that are inherited
independently of the other pairs of alleles (found
via studying ) Alleles: different forms of the same gene and occur
in pairs in diploid individuals

 are found in indelible positions or loci on

a pair of homologous chromosomes within
cells

Diploid: cells have two alleles of each gene

haploid: cells have only one allele of each gene

Phenotype: the appearance of an organism

Genotype: a combination of genes in an organism,

present in each cell
Determining Genotype | solving genetic problems Test cross chart

 solving technique for organising

information and representing a genetic
cross is to draw a Punnett square

 Similarly a test cross is used to determine

whether an individual is homozygous
dominant or heterozygous for a particular
trait

 A pedigree chart is used to trace the

inheritance of a particular trait through
several generations of a family
Constructing pedigree charts

Punnet square
1) Gather phenotypic records
2) Use symbols to represent the various
family members
3) Assign a number to each generation of the
family
4) Linking lines to represent relationships
between people

Punnet chart

Pedigree chart

Deviations from Mendel’s ratio | Sex-linkage, co-

dominance incomplete dominance and multiple
alleles chapter 2.4

It is important to understand that with Mendel’s

Test cross
ratios, at times there are deviations under certain
conditions, this includes
 genes that are not dominant nor recessive, may If a gene occurs on the X chromosomes of females,
be expressed as co-dominance as they have two alleles, they are not affected

a blending of their characteristics may be If a gene occurs on the X chromosome of a male, as

expressed as incomplete dominance they have one allele of X and Y, they are affected

genes may not assort independently this is Thus, it can be concluded that recessive disorders
expressed as sex-linked inheritance will appear more frequently in males

Sex determination ( sex linkage ) | Symbols used to represent alleles in sex-linked

crosses |
Sex determination is the separation of
chromosomes during meiosis that recombines 1) Alleles of the gene must be shown
during fertilisation to determine if the offspring is ( H = normal blood clotting, h =
male or female haemophilia )
Note that:
2) Type of chromosome on which the alleles
 Femaleses have 44 autosomes + XX are carried on must be shown
 Males have 44 autosomes + XY ( X or Y )

Recap: during meiosis, cells divide ( cells are For instance:

halved ) until there are 4 haploid cells (gametes)
that contain 23 chromosomes

Hence, as cells are halved, therefore: the female

gamete (egg cell) receives 22 autosomes + X

Males gametes (sperm cells) receive 22 autosomes

+ X and the other half receive 22 autosomes + Y
Punnet square chart – sex linkage
A zygote inherits an x chromosome from both
mother and father = female (XX)

A zygote that receives an x chromosome from the

mother and a y chromosome from the father = male Co-dominance
(XY)

In codominance is when both alleles are expressed,

creating a new phenotype

Where both alleles behave as dominant alleles

because they are both expressed

For instance: Pure-breeding (homozygous) cattle

may have a red or white coat colour

Hybrid individuals (heterozygotes), which have one

During the process of fertilisation and determining allele for red and one for white coat colour with a
the sex, some genes carried on the X and Y roan appearance
chromosomes code for characteristics other than
the gender  this is sex linkage
 Population genetics | represent frequencies of
characteristics in a population chapter 5.4

The genetic similarities and differences may be

determined by the phenotype, to do this scientists,
examine frequency data in genetic studies
including:

 The study of population genetics

 The gene pool
 Genetic diversity and genetic variability

Population genetics combines Mendelian genetics

Incomplete dominance and Darwinian evolution to explain how changes in
allele frequencies arise in populations and how
Incomplete dominance is the blending of two
these changes can lead to microevolution and
alleles expressed, producing a hybrid
macroevolution
Special notation is used to present alleles that do
Population geneticists’ (gene pool) study
not show complete dominance ( written as
mathematical changes in gene and allele
superscripts )
frequencies in populations to develop quantitative
For instance: Red snapdragon flowers crossed with ways of exploring different evolutionary
white snapdragon flowers give pink flowers hypotheses

Allele frequency (genetic diversity) is a measure of

how common an allele is in a population:

Analysing single nucleotide polymorphism (SNP)

The term polymorphism refers to individuals with

different phenotypes. Polymorphisms usually arise
as a result of a mutation – an error in DNA
replication

A single nucleotide polymorphism (SNP) is like a

typing error in DNA, rising during DNA
replication, where a single nucleotide is
incorrectly inserted
Multiple alleles
An important note to make is that the term
Individuals usually have 2 alleles for each gene "haplotype" can be referred to as the inheritance of
however, there may be three or more alleles for a a cluster of single nucleotide polymorphisms
single gene trait, termed as multi-allelic (SNPs)
For instance: The gene for human blood type has Hence, a haplotype is a cluster of marker alleles on
three alleles in the population A, B and O the same chromosome and can be used for
association studies in disease and to track the
To represent multi-allelic blood groups using
inheritance of different regions of the genome
correct genetic notation’
In other words, SNPs are useful in genetic studies
as they are ‘genetic markers’ currently used to
distinguish disease susceptibility in individuals