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The Australasian Genetics Resource Book \u2013 \u00a9 20071
GENES AND CHROMOSOMES
1
FACT SHEET
Produced by the Centre for Genetics Education. Internet: http://www.genetics.edu.au
Your (Genetic) Book of Life

Our genetic information, sometimes described as the \u2018Book of
Life\u2019, can be thought of as being made up of two volumes. Each
volume of the book is contributed to a person by one of their
parents.

So in your \u2018Genetic Book of Life\u2019 (Figures 1.1 & 1.2):
\u2022\ue000 One\ue000volume\ue000was\ue000inherited\ue000from\ue000your\ue000Mum\ue000and\ue000one\ue000from\ue000your\ue000
Dad
\u2022\ue000 Both\ue000volumes\ue000contain\ue00023\ue000chapters\ue000each,\ue000and\ue000together\ue000are\ue000
equivalent\ue000to\ue000the\ue00023\ue000pairs\ue000of\ue000chromosomes\ue000present\ue000in\ue000your\ue000
body cells that contain your genetic information
\u2022\ue000 The\ue00023\ue000chapters\ue000(ie.\ue000chromosomes)\ue000are\ue000made\ue000up\ue000of\ue000a\ue000variable\ue000
number of pages (ie. genes)
\u2022\ue000 Some\ue000of\ue000the\ue000chapters\ue000contain\ue000many\ue000pages;\ue000others\ue000only\ue000a\ue000few.\ue000
In your cells, some chromosomes contain many thousands of
genes;\ue000others\ue000perhaps\ue000only\ue000a\ue000few\ue000thousand\ue000(Figure 1.2)
\u2022\ue000 Careful\ue000examination\ue000of\ue000the\ue000words\ue000on\ue000the\ue000pages\ue000show\ue000that\ue000all\ue000

the words are made up of only three of the four possible letters
(triplets):\ue000A,\ue000T,\ue000C\ue000&\ue000G.\ue000\ue000In\ue000your\ue000cells,\ue000these\ue000letters\ue000are\ue000the\ue000
chemical components of DNA

Important points
\u2022\ue000 In\ue000their\ue000body\ue000cells,\ue000humans\ue000have\ue00046\ue000chromosomes,\ue000made\ue000up\ue000of\ue00023\ue000pairs.\ue000There\ue000are\ue00044\ue000chromosomes\ue000numbered\ue0001-22\ue000(called\ue000
autosomes)\ue000according\ue000to\ue000size\ue000from\ue000the\ue000smallest\ue000to\ue000the\ue000largest\ue000and\ue000two\ue000sex\ue000chromosomes:\ue000X\ue000and\ue000Y

\u2022\ue000 Women\u2019s\ue000chromosomes\ue000are\ue000described\ue000as\ue00046,XX;\ue000men\u2019s\ue000as\ue00046,XY\ue000
\u2022\ue000 A\ue000mother\ue000passes\ue00023\ue000chromosomes\ue000to\ue000her\ue000child\ue000through\ue000her\ue000egg\ue000and\ue000a\ue000father\ue000passes\ue00023\ue000chromosomes\ue000through\ue000his\ue000sperm
\u2022\ue000 The\ue000chromosomes\ue000consist\ue000of\ue000two\ue000very\ue000long\ue000thin\ue000strands\ue000of\ue000DNA\ue000chains\ue000twisted\ue000into\ue000the\ue000shape\ue000of\ue000a\ue000double\ue000helix\ue000and\ue000are\ue000\ue000

located in the nucleus (the \u2018control centre\u2019) of our body cells

\u2022\ue000 The\ue000chromosomes\ue000are\ue000long\ue000strands\ue000of\ue000genes\ue000
\u2022\ue000 Since\ue000the\ue000chromosomes\ue000come\ue000in\ue000pairs,\ue000the\ue000genes\ue000also\ue000come\ue000in\ue000pairs
\u2022\ue000 Genes\ue000are\ue000also\ue000located\ue000in\ue000very\ue000small\ue000compartments\ue000called\ue000mitochondria that are randomly scattered in the cytoplasm of the cell

outside the nucleus
\u2022\ue000 In\ue000each\ue000of\ue000the\ue000approximate\ue00020,000\ue000genes\ue000there is a piece of genetic information which guides our growth, development and
health and is in the form of a chemical code, called the genetic code
\u2022\ue000 The\ue000genetic\ue000code\ue000in\ue000the\ue000DNA,\ue000is\ue000virtually\ue000identical\ue000across\ue000all\ue000living\ue000organisms\ue000and\ue000is\ue000like\ue000a\ue000recipe\ue000book\ue000for\ue000the\ue000body\ue000to\ue000make\ue000
proteins
\u2022\ue000 The\ue000DNA\ue000code\ue000is\ue000made\ue000up\ue000of\ue000very\ue000long\ue000chains\ue000of\ue000four\ue000chemical\ue000\u2018letters\u2019:\ue000Adenine (A), Guanine (G), Thymine\ue000(T)\ue000and\ue000
Cytosine\ue000(C)\ue000

\u2013\ue000 In\ue000the\ue000DNA\ue000information,\ue000each\ue000\u2018word\u2019\ue000is\ue000a\ue000combination\ue000of\ue000three\ue000of\ue000these\ue000four\ue000chemical\ue000\u2018letters\u2019\ue000A,\ue000G,\ue000C\ue000and\ue000T\ue000
\u2013\ue000 Each\ue000three-letter\ue000word\ue000(triplet) tells the cell to produce a particular amino acid that form proteins
\u2013\ue000 The\ue000sequence\ue000of\ue000three-letter\ue000words\ue000in\ue000the\ue000gene\ue000enables\ue000the\ue000cells\ue000to\ue000assemble\ue000the\ue000amino\ue000acids\ue000in\ue000the\ue000correct\ue000order\ue000to\ue000make\ue000

up a protein
\u2022\ue000 Different\ue000genes\ue000are\ue000active\ue000in\ue000different\ue000cell\ue000types,\ue000tissues\ue000and\ue000organs,\ue000producing\ue000the\ue000necessary\ue000speci\ue001c\ue000proteins;\ue000some\ue000genes\ue000are\ue000
\u2018switched off\u2019 and others are \u2018switched on\u2019
\u2022\ue000 Changes\ue000to\ue000the\ue000genetic\ue000code\ue000can\ue000mean\ue000that\ue000a\ue000particular\ue000protein\ue000is\ue000not\ue000produced\ue000properly,\ue000produced\ue000in\ue000the\ue000wrong\ue000amounts\ue000or\ue000
not produced at all
\u2022\ue000 In\ue000some\ue000cases,\ue000the\ue000change\ue000in\ue000the\ue000genetic\ue000code\ue000can\ue000result\ue000in\ue000a\ue000genetic\ue000condition,\ue000affecting\ue000our\ue000growth,\ue000development\ue000and\ue000how\ue000
our bodies work

Just like we read the words on a page to understand what the
author is telling us, the body reads the triplets of words in the
DNA (our genetic information) to tell us to grow and develop and
guide how our cells work in our bodies.

We\ue000may\ue000also\ue000read\ue000a\ue000book\ue000in\ue000different\ue000circumstances\ue000and\ue000
similarly, our genetic information is \u2018read\u2019 by the cells in a
background\ue000of\ue000our\ue000personal\ue000internal\ue000and\ue000external\ue000environments.\ue000
This\ue000includes\ue000our\ue000diet,\ue000the\ue000chemicals\ue000that\ue000we\ue000are\ue000exposed\ue000to\ue000

and the other genes in the cells. Books also get older and the
pages become brittle or the words are harder to read, our genes
are affected by the ageing process. It is important to remember
however that our environment also plays a major role in how we
develop and how our bodies work by interacting with the genetic

information\ue000(see\ue000Genetics\ue000Fact\ue000Sheet\ue00011).\ue000
Your genetic make-up in more detail
Our bodies are made up of millions of cells. Each cell contains a
complete\ue000copy\ue000of\ue000a\ue000person\u2019s\ue000genetic\ue000plan\ue000or\ue000blueprint.\ue000This\ue000genetic\ue000
plan is packaged in the cells in the form of genes.
Chromosomes\ue000can\ue000be\ue000thought\ue000of\ue000as\ue000being\ue000made\ue000up\ue000of\ue000strings\ue000
of genes.The\ue000chromosomes,\ue000and\ue000therefore\ue000the\ue000genes,\ue000are\ue000made\ue000up\ue000
2The Australasian Genetics Resource Book \u2013 \u00a9 2007
www.genetics.edu.au
GENES AND CHROMOSOMES
1
FACT SHEET
of\ue000the\ue000chemical\ue000substance\ue000called\ue000DNA\ue000(DeoxyriboNucleic\ue000Acid).\ue000
The\ue000chromosomes\ue000are\ue000very\ue000long\ue000thin\ue000strands\ue000of\ue000DNA,\ue000that\ue000are\ue000
coiled up like a ball of string as shown in Figure 1.3.
The\ue000chromosomes\ue000containing\ue000the\ue000genes\ue000are\ue000located\ue000in\ue000the\ue000
nucleus (or control centre) of our body cells (Figure 1.4). An
exception\ue000is\ue000our red blood cells, which have no nucleus and so
don\u2019t have any chromosomes.

Another place in the cell where DNA is found is in the cell
in very small compartments calledmitochondria that are found
randomly scattered in the cytoplasm outside the nucleus.

Figure 1.1: Your Genetic Book of Life \u2013 part 1
Figure 1.2: Your Genetic Book of Life \u2013 part 2
This is your genetic life
The book of your life
has two volumes

Information in volume 1 came
from your Mum.
Information in volume 2 came
from your Dad.

Each volume has 23 chapters

23 pairs o\ue000 chromosomes. Each
chromosome is like a chapter \ue000rom one
o\ue000 the volumes o\ue000 the book

This is your life
Each chapter
has many pages
Each chromosome
has many genes
Each page contains
specifc in\ue000ormation

Each gene gives a
specifc message to
the cells

\u2022\ue000 The\ue000mitochondria\ue000are\ue000the\ue000energy\ue000centres\ue000of\ue000the\ue000cell.\ue000
Mitochondria\ue000contain\ue000genes\ue000too,\ue000although\ue000the\ue000mitochondrial\ue000
DNA is one long string of genes and is not arranged as
chromosomes
\u2022\ue000 The\ue000genes\ue000in\ue000bacterial\ue000DNA\ue000are\ue000also\ue000arranged\ue000in\ue000a\ue000long\ue000string,\ue000

giving rise to the theory that the mitochondria originated from
bacteria that invaded a human cell long ago in evolution.
Further information on mitochondria can be found in Genetics

Fact\ue000Sheet\ue00012
All of the DNA in the human cell (in the nucleus and the
mitochondria) makes up the human genome.
Mitochondria
Cell
membrane
Genetic material
(DNA)
Nucleus
Cytoplasm
Figure 1.3. Chromosomes are like strings of genes
Figure 1.4: Diagram of a human cell
Chapter one
A, G, C, T
Chapter one
A, G, C, T
Genes
Chromosomes
This is your genetic life
Chromosomes
Genes
GENES AND CHROMOSOMES
1
FACT SHEET
www.genetics.edu.au
The Australasian Genetics Resource Book \u2013 \u00a9 20073
GENES AND CHROMOSOMES
1
FACT SHEET
Our chromosomes
There\ue000are\ue00046\ue000chromosomes\ue000in\ue000the\ue000nucleus\ue000of\ue000our\ue000body cells.
\u2022\ue000 Of\ue000these,\ue00023\ue000came\ue000through\ue000our\ue000mother\u2019s\ue000egg\ue000and\ue00023\ue000came\ue000
through our father\u2019s sperm
\u2022\ue000 When\ue000the\ue000egg\ue000and\ue000the\ue000sperm\ue000join\ue000together\ue000at\ue000the\ue000time\ue000of\ue000
conception,\ue000they\ue000form\ue000the\ue000\ue001rst\ue000cell\ue000of\ue000the\ue000baby\ue000
\u2022\ue000 The\ue000baby\u2019s\ue000body\ue000cells\ue000now\ue000have\ue00046\ue000chromosomes,\ue000made\ue000up\ue000of\ue000
23\ue000pairs,\ue000just\ue000like\ue000the\ue000parents\ue000(Figure 1.5)
The\ue000genes\ue000in\ue000the\ue000mitochondria\ue000are\ue000also\ue000important\ue000for\ue000the\ue000fertilised\ue000
egg to divide and grow and for development to occur
\u2022\ue000 The\ue000vast\ue000majority\ue000of\ue000our\ue000mitochondria\ue000are\ue000in\ue000the\ue000egg\ue000from\ue000
which we arise as the sperm contributes only a very small
number of mitochondria to the fertilised egg
\u2022\ue000 Therefore\ue000the\ue000genetic\ue000information\ue000passed\ue000on\ue000to\ue000a\ue000baby\ue000in\ue000the\ue000

mitochondria largely comes from the mother only, while the genetic information in the nucleus comes from both mother and father

Figure 1.5: At conception the sperm and egg combine
As we age and grow, our cells are continually dividing to
form new cells. During this division process, each of the long thin
chromosomes\ue000coils\ue000up\ue000tightly,\ue000so\ue000that\ue000each\ue000of\ue000the\ue00046\ue000individual\ue000
chromosomes\ue000become\ue000rod-shaped\ue000structures\ue000and\ue000can\ue000be\ue000seen\ue000when\ue000
using a microscope (Figure 1.6).
Figure 1.6: Normal chromosome picture (karyotype) from a male 46,XY
(SEALS Genetics Prince of Wales Hospital, Randwick)
In the laboratory, the chromosomes are coloured (stained)
with special dyes to produce distinctive banding patterns (Figure
1.6).
\u2022\ue000 Each\ue000chromosome\ue000has\ue000been\ue000arranged\ue000in\ue000pairs\ue000and\ue000in\ue000order\ue000of\ue000
size
\u2022\ue000 At\ue000one\ue000point\ue000along\ue000their\ue000length,\ue000each\ue000chromosome\ue000has\ue000a\ue000
constriction, called thec e n t ro m e re
\u2022\ue000 The\ue000centromere\ue000divides\ue000the\ue000chromosomes\ue000into\ue000two\ue000\u2018arms\u2019:\ue000a\ue000
long arm and a short arm
The\ue000chromosomes\ue000are\ue000numbered\ue000from\ue000the\ue000largest\ue000(chromosome\ue000
number\ue0001)\ue000to\ue000the\ue000smallest\ue000(chromosome\ue000number\ue00022):\ue000these\ue000
numbered paired chromosomes are calledautosomes.Fi g u re
1.7 shows a drawing of one of these autosomes (chromosome
number 7), illustrating its characteristic banding pattern and the
centromere.

There\ue000are\ue000also\ue000two\ue000chromosomes\ue000that\ue000have\ue000been\ue000given\ue000 the\ue000letters\ue000X\ue000and\ue000Y:\ue000these\ue000are\ue000the\ue000sex chromosomes.\ue000The\ue000X\ue000 chromosome\ue000is\ue000much\ue000larger\ue000than\ue000the\ue000Y\ue000chromosome.

Womenhave
\u2022\ue000 46\ue000chromosomes\ue000(44\ue000autosomes\ue000plus\ue000two\ue000copies\ue000of\ue000the\ue000X\ue000
chromosome)\ue000in\ue000their\ue000body\ue000cells:\ue00046,XX
\u2022\ue000 23\ue000chromosomes\ue000(22\ue000autosomes\ue000plus\ue000an\ue000X\ue000chromosome)\ue000in\ue000
their egg cells
Menhave
\u2022\ue000 46\ue000chromosomes\ue000(44\ue000autosomes\ue000plus\ue000an\ue000X\ue000and\ue000a\ue000Y\ue000
chromosome)\ue000in\ue000their\ue000body\ue000cells:\ue00046,XY
\u2022\ue000 23\ue000chromosomes\ue000(22\ue000autosomes\ue000plus\ue000an\ue000X\ue000or\ue000Y\ue000chromosome)\ue000
in their sperm cells
Figure 1.7: The chromosome 7 pair showing the banding pattern
Our genes
The\ue000DNA\ue000making\ue000up\ue000each\ue000chromosome\ue000is\ue000usually\ue000coiled\ue000up\ue000
tightly. If we imagine it stretched out, it would look like beads on a
string (Figure 1.3).

\u2022\ue000 Each\ue000of\ue000these\ue000beads\ue000is\ue000called\ue000a\ue000gene
\u2022\ue000 Each\ue000gene is a piece of genetic information
\u2022\ue000 Thousands\ue000of\ue000genes\ue000make\ue000up\ue000each\ue000chromosome

Since the chromosomes come in pairs, there are two copies of the
genes.\ue000The\ue000exception\ue000to\ue000this\ue000rule\ue000applies\ue000to\ue000the\ue000genes\ue000carried\ue000on\ue000
the\ue000sex\ue000chromosomes:\ue000the\ue000X\ue000and\ue000Y.\ue000
\u2022\ue000 Since\ue000men\ue000have\ue000only\ue000one\ue000copy\ue000of\ue000the\ue000X\ue000chromosome,\ue000
they\ue000have\ue000only\ue000one\ue000copy\ue000of\ue000all\ue000the\ue000genes\ue000carried\ue000on\ue000the\ue000X\ue000
chromosome
Centromere

Egg from the
mother containing
23 chromosomes

Sperm from the
father containing
23 chromosomes

Fertilised egg
containing 46
chromosomes
from which all
body cells arise

GENES AND CHROMOSOMES
1
FACT SHEET
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