Genetics

GENETICS
DNA, Proteins & Mutations Pedigree family charts

The nucleus, chromosomes & genes Mendel’s Peas
DNA structure Codominance: blood groups
DNA extraction Sex linked disorders
Effect of gene mutation on proteins Human genome project
Transcription (H) & (S) Variation
Translation (H) & (S)
Transcription & Translation (H) & (S)
Mutation in DNA (H) & (S)
Reproduction
Asexual vs sexual reproduction
Fertilisation
Meiosis
Meiosis vs mitosis
Genetics
Alleles: introduction
Inheriting eye colour (Bb)
Inheriting dominant linked phenotypes (polydactyly)
Inheriting sex (XX & XY)
Recessive linked diseases (Cystic fibrosos)
The nucleus, chromosomes & genes
• DNA - Deoxyribonucleic acid
• Genetic material
• polymer, a large and complex molecule.
• It is made up of two strands forming a twisted ladder structure
called a double helix.
• GENE - small section of DNA in a chromosome.

• unit of heredity.
DNA Structure
• DNA - Deoxyribonucleic acid
• Genetic material
• polymer, a large and complex molecule.
• It is made up of two strands forming a twisted
ladder structure called a double helix.
• 4 base pairs: thymine, T
adenine, A
guanine, G
cytosine, C
• Backbone of DNA- Sugar & Phosphate molecules
• Nucleotide
Genes
A gene is a small section of DNA on a chromosome. Each gene

codes for a particular sequence of amino acids that makes a
specific protein.
Protein synthesis
Protein synthesis
Mutation
• Mutations are random changes that occur in the sequence of DNA bases in a gene or a chromosome
• mutations in a gene can sometimes lead to a change in the protein that the gene codes for
• Most mutations do not alter the protein or only alter it slightly so that its appearance or function is not
changed
• small number of mutations code for a significantly altered protein with a different shape
• This may affect the ability of the protein to perform its function
DNA is a polymer made from four different nucleotides.
Figure 1 shows a molecule of DNA with the four bases represented by the letter A, B, C and D.
1. What are the components of nucleotide
2.The chain of bases shown in Figure 1 act as a 'hypothetical' gene for the synthesis of a protein, haemoglobin. Outline how
this chain of bases leads to the production of haemoglobin in the cell.
3. DNA can make copies of itself in a process known as replication. What property of DNA allows for DNA to replicate itself?
Sexual Reproduction
Sexual reproduction involves a male gamete (sex cell) and a female gamete (sex cell) from
two parents.
The gametes are produced by meiosis.
These gametes fuse together in a process called fertilisation.
The genetic information from both gametes is mixed, this leads to variation in the offspring.
The gametes in plants are pollen and egg cells.

The egg cell is found inside the ovary of the flower.
The pollen is produced by the anther.
When pollination occurs, the pollen and the egg cell meet and fuse in fertilisation.
Asexual Reproduction
Sexual Reproduction - Meiosis
Mitosis vs Meiosis
Genetics - Alleles
Gamate
Chromosome
Gene
Alleles
Genotype vs Phenotype
Eye color
Eye color
Punnett square
Sex determination
Inherited disorders - Cystic Fibrosis
Inherited disorders - Cystic Fibrosis
Recessive disorder
Inherited disorders - Polydactyl
Dominant allele
Pedigree family charts
Pedigree analysis: pedigree analysis chart is used to show how genetic disorders are inherited in a family. They can use this to
work out the probability that someone in a family will inherit a condition. A pedigree analysis is usually undertaken if families
are referred to a genetic counsellor following the birth of an affected child.
Disease DOMINANT or RECESSIVE linked ?
What must the genotype of the woman 1 be?

can you work out the genotypes of all 12 people on the diagram ?
Mendel’s peas
Codominance
Codominance: Some alleles are both expressed in the same phenotype
Codominance: blood groups
The ABO blood group system is controlled by a single gene on chromosome 9. There are three common alleles
for the gene, often represented by the letters IA (or A), IB (or B), and IO (or O). With three alleles, there are six
possible genotypes for the ABO blood group.
Sex linked disorders: Colour blindness
When a gene has its locus on the sex chromosomes, it is said to be sex-linked.
Males are more likely to suffer from sex-linked diseases than females
The Y chromosome is smaller than the X and is therefore missing some

of the genes that are carried on the X chromosome.
Pair 23
Sex linked disorders: Red-green colour blindness
 Affects the cones in the retina
 Sufferers cannot distinguish between red and green light
Human Genome Project (HGP)
Completed by 2003, the purpose of the Human Genome Project was to map and identify all the genes in the
human genome. Information about DNA can be very useful for forensic science, tracing human migration
patterns, and for the
understanding and treatment of inherited genetic disorders. The project helps scientists to:
  diagnose diseases before symptoms develop
  identify the genetic changes that are responsible for an already diagnosed disease
  help doctors to determine the best treatment
  identify genetic mutations that may increase the risk of developing a disease
  identify gene changes that could be inherited
  screen babies for treatable conditions.
Disadvantages
 Employers and insurers can use this to discriminate. If you are likely to develop a serious genetic
disease, life insurance can get really expensive and employers may also discriminate against you.
 This knowledge can increase stress. Knowing that you are susceptible to a genetic disease can cause
immense stress and panic every time you get a potential symptom.
 This knowledge could pressurise people not to have children. The fear of passing down the genetic
disorder could pressurise people into opting not to have children.
Variation
• blood group Difference in the phenotype
• skin colour
• natural eye colour
• sex
Causes:
 Genetic variation
 Environmental variation
 Both genetic and environmental
Types:
 Continuous
 Discontinuous
Normally distributed variation

Variation
Mutation
Mutations can have positive or negative effects:

 improve chances of survival
 increase genetic diversity
 can lead to diseases, such as cancer
 can lead to genetic disorders
Identical twins are individuals who developed from a single fertilised ovum (egg
cell). As aresult, they have identical DNA. Explain why identical twins may or
may not be identical when they reach adulthood. [3 marks]
Practice problems
A species of mammal has 32 chromosomes in its muscle cells. Consider the following statements about reproduction in
Which row in the table below shows the number of plants:
chromosomes in the mammal's skincells and sperm cells? • Large numbers of offspring are quickly produced
• There is little genetic variation in the offspring.
• A mechanism such as wind or insects is not needed for
pollination.
Which of the above are advantages of asexual reproduction

in plants?
 1 and 2
 1 and3
 2 and 3
 1, 2and3
Variation in organisms can be caused by the environment as
well as by the genes they inherit. For each of the following
examples, state whether the variation described is likely to be
genetic, environmental or both. In each case, give a reason for
your answers.
• Humans have brown, blue or green eyes.
• Half the human population is male, half is female.
• Cuttings of hydrangea plants grown in soils with different pH
values develop flowers with slightly different colours.

Genetics

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GENETICS

DNA, Proteins & Mutations Pedigree family charts

• GENE - small section of DNA in a chromosome.

A gene is a small section of DNA on a chromosome. Each gene

The gametes in plants are pollen and egg cells.

Disease DOMINANT or RECESSIVE linked ?

What must the genotype of the woman 1 be?

The Y chromosome is smaller than the X and is therefore missing some

Normally distributed variation

Mutations can have positive or negative effects:

Which of the above are advantages of asexual reproduction

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