CHAPTER 16 – CHROMOSOMES GENES AND DNA

 3.14 understand that the genome is the entire DNA of an organism and that a gene is a
section of a molecule of DNA that codes for a specific protein
 3.15 understand that the nucleus of a cell contains chromosomes on which genes are
located

The nucleus of the cell contains chromosomes. Chromosomes

are strands of DNA. In humans, we have 46 chromosomes,
organised in 23 pairs. Each chromosome is organised into
sections called genes. All of the genes in an organism is the
organism’s genome. Each gene codes for a specific protein.

GENE: Section of a molecule of DNA that codes for a specific

protein, such as:
 Structural protein such as skin cells
 Hormones
 Proteins with specialised functions such as antibodies

 PAPER 2 ONLY: 3.16B describe a DNA molecule as two strands coiled to form a
double helix, the strands being linked by a series of paired bases: adenine (A) with
thymine (T), and cytosine (C) with guanine (G)

DNA: DNA stands for

deoxyribonucleic acid. It
is made of two strands,
each strand is called a
polynucleotide.

DNA is shaped in a double helix. The sides

of the helix is made of repeating units of
deoxyribose sugar and phosphate – this is
called the sugar-phosphate backbone.

The middle of the helix is made of bases –

there are four different types: adenine (A),
guanine (G), cytosine (C) and thymine (T).

The two strands of DNA are held together by

hydrogen bonds between the bases on each
strand – the bases form base pairs. The
bases always pair the same way: A-T and C-
G
  PAPER 2 ONLY: 3.17B understand that an RNA molecule is single stranded and
contains uracil (U) instead of thymine (T)

RNA is similar to DNA, it has sugar, phosphate and bases, but it is

single stranded, not double.

SIMILARITIES BETWEEN DNA & RNA:

 Has sugar molecules
 Has phosphate molecules
 Has adenine, cytosine and guanine

DIFFERENCES BETWEEN DNA & RNA:

 RNA is single stranded, DNA is double stranded
 RNA has uracil, DNA has adenine
 RNA has ribose sugar, DNA has deoxyribose sugar

 PAPER 2 ONLY: 3.18B describe the stages of protein synthesis including

transcription and translation, including the role of mRNA, ribosomes, tRNA, codons
and anticodons

PROTEIN SYNTHESIS: process in which cells make proteins using the instructions from genes

PROTEIN SYNTHESIS - TRANSCRIPTION

THE PROCESS:
 When a gene is expressed, the base sequence of DNA is copied or transcribed into
mRNA (messenger RNA)
 RNA polymerase moves along the DNA unwinding the strand
 Hydrogen bonds between base pairs break which allows the unzipping of the double helix
 As RNA polymerase breaks the bonds, it synthesises a primary transcript of mRNA using
RNA nucleotides which form hydrogen bonds with the exposed DNA strand by
complementary base pairing
 The primary transcript of mRNA is processed to produce a mature transcript of mRNA
 The mature mRNA transcript is now ready to leave the nucleus and travel to the ribosome
 PROTEIN SYNTHESIS - TRANSLATION

THE PROCESS:
 The mRNA molecule travels through the cytoplasm and attaches to ribosome
 tRNA molecules transport specific amino acids to the ribosome
 Each mRNA codon (a triplet of bases) codes for a specific amino acid
 The first codon of an mRNA molecule is a start codon. This signals the beginning of
translation
 The anti-codons and codons match up and form complementary base pairs
 Peptide bonds form between the adjacent amino acids to form the polypeptide (protein)
 Used tRNA molecules exit the ribosome and collect another specific amino acid
 The last codon of an mRNA molecule is a stop codon which signals the end of a
translation
 After translation, the polypeptide chain can be changed by cutting and combining
polypeptide chains or by adding phosphate or carbohydrate groups to the protein

 3.32 know that in human cells the diploid number of chromosomes is 46 and the haploid
number is 23

DIPLOID – cells that have pairs of chromosomes are diploid (all body cells except gametes).
Diploid cells are made by mitosis. In humans, diploid cells have 46 chromosomes, organised in 23
pairs. One from each pair comes from each parent.
HAPLOID – cells that have unpaired chromosomes are haploid. The sex cells are haploid (sperm,
egg, pollen…). Haploid cells are made by meiosis. In humans, haploid cells have 23
chromosomes.

 3.33 understand that variation within a species can be genetic, environmental, or a

combination of both

VARIATION: differences between individuals within a species

VARIATION WITHIN SPECIES:

GENETICS ENVIRONMENT

EXPLANATION: EXPLANATION:
Variation in a species can be caused by Variation in a species can be caused by
genetics by the inheritance of genes and environmental factors, causing organisms to
alleles from parents adapt or change
EXAMPLES: EXAMPLES:
 Eye Colour  Lifestyle
 Hair Colour  Climate
 Blood Type  Diet
 Inherited Disorders  Culture

BOTH GENETIC AND ENVIRONMENT

Variation can be influenced by both genetic and
environmental factors as although genes decide
what characteristics we inherit, our surrounding
environment will affect how these inherited
characteristics develop.

EXAMPLE:
1. Plants
Plants may have the potential for strong growth, but if they do not receive sufficient
mineral resources from the soil, they may hardly grow at all

2. Child
A child might inherit the tendency to be tall, but a poor diet during childhood will cause
poor growth
  3.34 understand that mutation is a rare, random change in genetic material that can be
inherited
 PAPER 2 ONLY: 3.37B understand that the incidence of mutations can be increased
by exposure to ionising radiation (for example, gamma rays, x-rays and ultraviolet
rays) and some chemical mutagens (for example, chemicals in tobacco)

MUTATION: rare, random change in genetic material

that can be inherited
 Mutations are random changes that occur in
genes
 They occur spontaneously throughout life
 The rate if mutation can be increased by
exposure to ionising radiation (UV, X-rays or
gamma) or chemical mutagens (eg tar in
cigarettes)
 This will cause an alteration to the base pair
sequence in the genetic code, coding for a
different protein that will not carry out its usual
function, causing the body or organs to behave differently

 PAPER 2 ONLY: 3.35B understand how a change in DNA can affect the phenotype by
altering the sequence of amino acids in a protein

 Each gene acts as a code or set of

instructions for making a specific
protein
 To enable genes to code for proteins,
the bases A, T, G and C are read in
triplets
 Each protein is made up of a large
number of amino acid molecules
 Each triplet of bases codes for one
particular amino acid
 Amino acids are made in the number
and order dictated by the number and order of base triplets
 Finally, the amino acid molecules join together in a long chain to make a protein molecule.
The number and sequence of amino acids determines which protein results
 This means that if a mutation occurs it will change the sequence of bases, changing the
base triplets
 This means the wrong amino acids are incorporated into the protein
 The protein will now be different, this will change its function / phenotype
  PAPER 2 ONLY: 3.36B understand how most genetic mutations have no effect on the
phenotype, some have a small effect and rarely do they have a significant effect

Mutations are rare, but when they occur they can have one of three effects:

HARMFUL

 Mutations will cause alteration to the base pair sequence in the genetic code, coding for a
different protein which may cause the body or organ to not carry out its normal function
 Mutations will cause genetic disorders that can be passed onto generations such as
cystic fibrosis
 Mutations may cause drastic effect on phenotype

NEUTRAL
 Mutations may have no effect on the phenotype
 Mutations may have no effect. E.g, the protein that a mutated gene produces may work
just as well as the protein from the non - mutated gene
 Mutations may not affect the chances of survival of species

BENEFICIAL
 Mutations may be caused by evolution as a means of natural selection, increasing the
chances of survival of species
 Mutations that are beneficial can be passed on to generations which can increase
populations of species and save them from extinction
 Allows people to be resistant to certain diseases, e.g people who are carriers for the
sickle cell allele are more resistant to malaria