Understandings:

Mendel discovered the principles of inheritance with experiments in which large numbers
of pea plants were crossed
From the findings, Mendel drew the following conclusions:
■ Organisms have discrete factors that determine its features (these ‘factors’ are now
recognised as genes)
■ Furthermore, organisms possess two versions of each factor (these ‘versions’ are now
recognised as alleles)
■ Each gamete contains only one version of each factor (sex cells are now recognised to
be haploid)
■ Parents contribute equally to the inheritance of offspring as a result of the fusion
between randomly selected egg and sperm
■ For each factor, one version is dominant over another and will be completely expressed
if present
Certain rules can be established:
1. Law of Segregation: When gametes form, alleles are separated so that each gamete
carries only one allele for each gene
2. Law of Independent Assortment: The segregation of alleles for one gene occurs
independently to that of any other gene*
3. Principle of Dominance: Recessive alleles will be masked by dominant alleles†
† Not all genes show a complete dominance hierarchy – some genes show co-dominance or
incomplete dominance
Gametes are haploid so contain only one allele of each gene
The two alleles of each gene separate into different haploid daughter nuclei during
meiosis
○ During meiosis I, homologous chromosomes are separated into different nuclei
prior to cell division
○ As homologous chromosomes carry the same genes, segregation of the
chromosomes also separates the allele pairs
○ Consequently, as gametes contain only one copy of each chromosome they
therefore carry only one allele of each gene
Fusion of gametes results in diploid zygotes with two alleles of each gene that may be
the same allele or different alleles
● Gametes are haploid, meaning they only possess one allele for each gene
○ When male and female gametes fuse during fertilisation, the resulting zygote will
contain two alleles for each gene
○ Exception: Males have only one allele for each gene located on a sex
chromosome, as these chromosomes aren’t paired (XY)
● For any given gene, the combination of alleles can be categorised as follows:
●
The maternal and paternal alleles are the homozygous
same

The maternal and paternal alleles are heterozygous

different

Males only have one allele for each gene hemizygous

located on a sex chromosome

Dominant alleles mask the effect of recessive alleles but co-dominant alleles have joint
effects
● The gene composition for a specific trait is referred to as the genotype
○ The genotype of a particular gene will typically be either homozygous or
heterozygous
● The observable characteristics of a specific trait is referred to as the phenotype
○ The phenotype is determined by both the genotype and environmental influences

Complete Most traits follow a classical dominant / ■ The dominant allele will mask the
Dominance recessive pattern of inheritance, recessive allele when in a
 whereby one allele is expressed over heterozygous state
the other ■ Homozygous dominant and
heterozygous forms will be
phenotypically indistinguishable
■ The recessive allele will only be
expressed in the phenotype when in
a homozygous state
■ When representing alleles, the
convention is to capitalise the
dominant allele and use a lower case
letter for the recessive allele

Co- occurs when pairs of alleles are both ■ Heterozygotes therefore have an
dominance expressed equally in the phenotype of a altered phenotype as the alleles are
heterozygous individual having a joint effect

● When representing alleles, the

convention is to use superscripts for
the different co-dominant alleles
(recessive still lower case)
Many genetic diseases in humans are due to recessive alleles of autosomal genes,
although some genetic diseases are due to dominant or co-dominant alleles
● Genetic diseases are caused when mutations to a gene (or genes) abrogate normal
cellular function, leading to the development of a disease phenotype
○ Genetic diseases can be caused：
Recessive alleles autosomal recessive genetic Heterozygous individuals will possess one
disease will only occur if both copy of the faulty allele but not develop
alleles are faulty disease symptoms (they are carriers)

E.g. cystic fibrosis

Dominant alleles autosomal dominant genetic Homozygous dominant and heterozygous

disease only requires one copy of a individuals will both develop the full range
faulty allele to cause the disorder of disease symptoms

E.g. Huntington’s disease

co-dominant If a genetic disease is caused by However, heterozygous individuals will

alleles co-dominant alleles it will also only have milder symptoms due to the
require one copy of the faulty allele moderating influence of a normal allele
to occur
E.g. sickle cell anaemia

Some genetic diseases are sex linked

● Sex linkage refers to when a gene controlling a characteristic is located on a sex
chromosome (X or Y)
 ○ The Y chromosome is much shorter than the X chromosome and contains only a
few genes
○ The X chromosome is longer and contains many genes not present on the Y
chromosomes
● Hence, sex-linked conditions are usually X-linked - as very few genes exist on the
shorter Y chromosome
The pattern of inheritance is different with sex-linked genes due to their location on sex
chromosomes
● Sex-linked inheritance patterns differ from autosomal patterns due to the fact that the
chromosomes aren’t paired in males (XY)
○ Only females can be carriers (a heterozygote for a recessive disease condition),
males cannot be heterozygous carriers
○ Males will always inherit an X-linked trait from their mother
○ Females cannot inherit an X-linked recessive condition from an unaffected father
(must receive his dominant allele)
Many genetic diseases have been identified in humans but most are very rare
● There are over 4,000 identified single gene defects that lead to genetic disease, but
most are very rare
○ Any allele that adversely affects survival and hence the capacity to reproduce is
unlikely to be passed on to offspring
● Recessive conditions tend to be more common, as the faulty allele can be present in
carriers without causing disease
● Dominant conditions may often have a late onset, as this does not prevent reproduction
and the transfer of the faulty allele
Radiation and mutagenic chemicals increase the mutation rate and can cause genetic
diseases and cancer
■ Agents which increase the rate of genetic mutations are called mutagens, and can lead
to the formation of genetic diseases
■ Mutations can be spontaneous (caused by copying errors during DNA replication) or
induced by exposure to external elements
○ Examples of factors which can induce mutations include:
■ Radiation – e.g. UV radiation from the sun, gamma radiation from
radioisotopes, X-rays from medical equipment
■ Chemical – e.g. reactive oxygen species , alkylating agents (found in
cigarettes)
■ Biological Agents – e.g. bacteria (such as Helicobacter pylori), viruses

Applications:
Inheritance of ABO blood groups
● Human red blood cells can be categorised into different blood groups based on the
structure of a surface glycoprotein (antigen)
 ○ The ABO blood groups are controlled by a single gene with multiple alleles (A, B,
O)
● The A, B and O alleles all produce a basic antigen on the surface of red blood cells
○ The A and B alleles are co-dominant and each modifies the structure of the
antigen to produce different variants
○ The O allele is recessive and does not modify the basic antigenic structure
AB blood groups can receive blood from as they already possess both antigenic
any other type variants on their cells

A blood groups cannot receive B blood or as the isoantigen produced by the B allele
AB blood is foreign)

B blood groups cannot receive A blood or as the isoantigen produced by the A allele
AB blood is foreign

O blood groups can only receive both antigenic variants are foreign
transfusions from other O blood donor

Red-green colour blindness and haemophilia as examples of sex-linked inheritance

Red-green colour blindness and haemophilia are both examples of X-linked recessive
conditions
■ Consequently, they are both far more common in males than in females
○ When assigning alleles for a sex-linked trait, the convention is to write the allele
as a superscript to the sex chromosome (X)
Haemophilia genetic disorder whereby the body’s ability to control blood
clotting (and hence stop bleeding) is impaired

Red-Green Colour Blindness genetic disorder whereby an individual fails to discriminate

between red and green hues

Inheritance of cystic fibrosis and Huntington’s disease

Cystic Fibrosis ■ Individuals with cystic fibrosis produce mucus which is unusually thick and
sticky
■ This mucus clogs the airways and secretory ducts of the digestive system,
leading to respiratory failure and pancreatic cysts
■ Heterozygous carriers who possess one normal allele will not develop
disease symptoms

Huntington’s ■ When the number of repeats exceeds ~40, the huntingtin protein will misfold
Disease and cause neurodegeneration
■ This usually occurs in late adulthood and so symptoms usually develop
noticeably in a person’s middle age (~40 years)
■ Symptoms of Huntington’s disease include uncontrollable, spasmodic
movements (chorea) and dementia
Consequences of radiation after nuclear bombing of Hiroshima and accident at
Chernobyl
■ The Chernobyl meltdown involved far more fissionable material and produced different
isotopes with much longer half-lives
■ The Hiroshima nuclear bomb was detonated above ground and radiation was dispersed,
resulting in less irradiation of the soil
Some of the long-term consequences of radiation exposure following these disasters include:
■ An increased incidence in cancer development
■ Altered immune functions, leading to higher rates of infection
■ A wide variety of organ-specific health effects

Skill:
Construction of Punnett grids for predicting the outcomes of monohybrid genetic
crosses
A monohybrid cross determines the allele combinations for potential offspring for one gene only
Monohybrid crosses can be calculated according to the following steps:
■ Step 1: Designate letters to represent alleles (dominant = capital letter ; recessive =
lower case ; co-dominant = superscript)
■ Step 2: Write down the genotype and phenotype of the prospective parents
■ Step 3: Write down the genotype of the parental gametes
■ Step 4: Draw a grid with maternal gametes along the top and paternal gametes along
the left (this is a Punnett grid)
■ Step 5: Complete the Punnett grid to determine potential genotypes and phenotypes of
offspring

Comparison of predicted and actual outcomes of genetic crosses using real data
● The genotypic and phenotypic ratios calculated via Punnett grids are only probabilities
and may not always reflect actual trends
● When comparing predicted outcomes to actual data, larger data sets are more likely to
yield positive correlations
○ Gregor Mendel performed over 5,000 crosses as part of his pea plant experiment
○ However many statisticians believe Mendel’s results are too close to the exact
ratios predicted to be genuine

Analysis of pedigree charts to deduce the patterns of inheritance of genetic diseases

A pedigree is a chart of the genetic history of a family over several generations
■ Males are represented as squares, while females are represented as circles
■ Shaded symbols mean an individual is affected by a condition, while an unshaded
symbol means they are unaffected
■ A horizontal line between man and woman represents mating and resulting children are
shown as offshoots to this line