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The synthesis of art and science is lived by the nurse in the nursing act
Josephine G Paterson

Genetics, mitosis and meiosis


McLafferty E et al (2012) Genetics, mitosis and meiosis.
Nursing Standard. 26, 48, 35-42. Date of acceptance: March 29 2012.

this genetic code are active and therefore direct


Abstract the cell to different functions – however, each
As part of the life sciences series, this article describes the role of cell contains the entire blueprint for the person.
deoxyribonucleic acid and ribonucleic acid, genes and chromosomes. This is why it is possible to take the nucleus from,
The processes of mitosis and meiosis are discussed and some genetic for example, a skin cell and place it within an
disorders outlined. Possible strategies for future management of enucleated ovum and produce a new individual
genetic disorders are introduced. who is identical in almost every respect to the
original nuclear donor. This is called cloning.
Authors To date, no human beings have been artificially
cloned and in most countries the ethical concerns
Ella McLafferty
surrounding this are such that even if it were
Retired, was senior lecturer, School of Nursing and Midwifery,
technically possible it would be illegal. This article
University of Dundee.
examines the structures that carry the genetic code
Charles Hendry
from one generation of cells to the next, as well as
Retired, was senior lecturer, School of Nursing and Midwifery,
the nature and mechanisms of cell division, namely
University of Dundee.
mitosis and meiosis. Gene inheritance and what
Alistair Farley
can go wrong when abnormalities occur in the
Lecturer in nursing, School of Nursing and Midwifery,
genetic code are also discussed.
University of Dundee.
Correspondence to: a.h.farley@dundee.ac.uk
Deoxyribonucleic acid and ribonucleic acid
Keywords The genetic code is contained within the
Cell division, genetics, life sciences, meiosis, mitosis nucleic acids deoxyribonucleic acid (DNA) and
ribonucleic acid (RNA) found in cells. Nucleic
Review acids contain carbon, hydrogen, oxygen, nitrogen
and phosphorus. DNA forms the genetic material
All articles are subject to external double-blind peer review and
that is responsible for passing on inherited
checked for plagiarism using automated software.
characteristics from one generation to the next.
RNA relays instructions from genes to direct the
Online synthesis of proteins from amino acids within
Guidelines on writing for publication are available at the cell. Specific genes contain the code for the
www.nursing-standard.co.uk. For related articles visit the archive synthesis of specific proteins.
and search using the keywords above.
Deoxyribonucleic acid
DNA is a double-stranded helical molecule
In the previous article, the cell was identified made up of four chemical bases or nucleotides
as the smallest living structure in the body. All (Figure 1). There are four bases, or nucleotides,
cells in the body, with the exception of mature in human DNA. These are adenine (A), thymine
erythrocytes (red blood cells), have a nucleus (T), cytosine (C) and guanine (G). Each strand of
containing the genetic code or blueprint for the DNA contains a backbone made up of sugar and
individual. In different cells, various sections of phosphate to which the nucleotides are attached.

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Art & science life sciences: 3

As a result of their chemical structure, adenine FIGURE 2


can only pair with thymine, and cytosine can
Deoxyribonucleic acid replication
only pair with guanine. This specific pairing
means that knowledge of the sequence of bases on
one strand of DNA can enable prediction of the
sequence of bases on the complementary strand
(Tortora and Derrickson 2009).
When cell division takes place the double helix
unwinds and separates and each strand acts as a
template for the production of its partner strand
(Figure 2). Sometimes during DNA replication a
change in the base sequence can occur – known
as mutation. Some mutations can lead to a greater
or lesser change in protein synthesis and may lead
to reduced function, cancer or cell death. Genetic
defects in future individuals can arise if the mutation
occurred in the cells that form ova or sperm.
sequence coded for in the mRNA. In this way, a
Ribonucleic acid protein is assembled.
RNA differs from DNA in a number of important A sequence of three DNA nucleotides or bases
ways. RNA is a single-stranded molecule made up is known as a base triplet. The mirror image of
of the sugar ribose, and includes uracil (U) instead such a sequence in mRNA is called a codon. A
of thymine. codon codes for a specific amino acid. With four
There are three different types of RNA nucleotides available to make up a 3 codon amino
including messenger RNA (mRNA), ribosomal acid, it is possible to produce 64 distinct codons,
RNA (rRNA), and transfer RNA (tRNA). that is 43. There are more than enough possible
mRNA is produced when a gene or genes in the combinations to code for the 20 amino acids which
DNA are expressed or activated, thus generating are used to form a wide range of proteins in the
a copy of the gene. Ribosomes in the cytoplasm body. Humans can make 12 amino acids from
then read coding information in the mRNA. simple organic molecules found in the diet, and the
Ribosomes are composed of rRNA and proteins. remaining eight which must be ingested are known
tRNA transports amino acids to the ribosome, as essential amino acids (Vanputte et al 2009).
which selects the appropriate ones that match the

Genes
FIGURE 1 The nucleus in each cell of the body contains
Deoxyribonucleic acid molecule genes from both biological parents. Each gene is
made up of a segment of DNA. It is estimated that
humans have about 20,000-30,000 genes (Tortora
and Derrickson 2009, Patton and Thibodeau
2010). This accounts for about 3% of total DNA
in humans; the remaining 97% does not code
for anything (Saladin 2011). This ‘junk’ DNA
has been accumulated over the course of human
Nucleotides
evolution, with no known purpose. Genes can vary
in length, with most being 20,000-40,000 base
pairs long; however, some are one million base
pairs long (Kumar and Clark 2009). Because vast
amounts of information have to be carried in each
nucleus, every strand of DNA has to be carefully
and precisely packaged. When tightly packaged,
Sugar the DNA is found in the form of chromosomes.
phosphate
backbone
Chromosomes
In every cell in the body (with the exception of the
gametes or sex cells (ova and sperm)) the nucleus

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contains 46 chromosomes arranged in pairs. FIGURE 4
In both males and females there are 23 pairs of
Mitosis
chromosomes: 22 identical (homologous) pairs
called autosomes and one pair of sex chromosomes
(Figure 3). In females the 23rd pair is also identical, Prophase
consisting of a pair of X chromosomes, whereas
in the male the pair of sex chromosomes is made
up of two different chromosomes, one X and Metaphase
one Y chromosome.
The classic image of human chromosomes is
usually one of the chromosome in a condensed, Anaphase
tightly coiled state. Most of the time – that is,
when the cell is not undergoing cell division – the
chromosome is relaxed and partially unwound. Telophase
In this state, it is known as chromatin and makes
DNA more easily accessible for DNA replication
and subsequent protein synthesis.

Cell division
Cell division is the process whereby the cell two cells, the cell undergoes nuclear division
reproduces itself (a parent cell divides into two or or mitosis, whereby the cell separates the
more daughter cells). It consists of a nuclear division chromosones in its nucleus into two identical sets
and a cytoplasmic division. Two types of nuclear in two separate nuclei. When the cytoplasm of
cell division are recognised: mitosis and meiosis. In the parent cell divides to form two cells, each new
mitosis, the number of chromosomes is maintained, cell contains the identical number and types of
that is, the daughter cells contain the same number chromosomes that were present in the parent cell
of chromosomes as the parent cells. In meiosis, the (46 chromosomes in 23 pairs) (Figure 4).
final daughter cells (or gametes) only contain half Before onset of cell division by mitosis, a cell
the number of chromosomes found in the parent cell replicates its DNA and other intracellular material
– this is known as a reduction division. such as organelles, in preparation for this division.
At the end of this phase each chromosome consists
of two distinct, but genetically identical, strands of
Mitosis and the cell cycle chromatin known as chromatids. These chromatids
Mitosis involves duplication of the parent cell. are linked by a part of the chromosome known as
Before the cytoplasm of a cell divides to form the centromere.
The cytoplasm, cell membrane and other cell
structures are also being replicated in anticipation of
FIGURE 3 cell division. The phase between active cell divisions
Human chromosones is known as interphase – a period of high metabolic
activity. It is during this phase that much of a cell’s
growth takes place (Tortora and Derrickson 2012).
Mitosis follows on from interphase and can be
divided into four stages: prophase, metaphase,
anaphase and telophase.

Prophase
During prophase the nuclear envelope begins to
disintegrate as the chromatin in the nucleus coils
up to form dense, compact chromosomes. Each
chromosome is made up of one pair of identical,
double-stranded chromatids. At the end of
prophase there are 46 double-stranded chromatids.
As the chromatids are forming, two centrioles
(which derive from the centrosome, an organelle
close to the nucleus) move towards opposite ends
ALAMY

of the parent cell. As they prepare to migrate, an

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Art & science life sciences: 3

arrangement of microtubules called spindle fibres meiosis. Cells produced by meiosis each have
is constructed between the centrioles. By the end 23 chromosomes. During fertilisation, the sperm
of prophase the nucleolus and nuclear envelopes contributes 23 chromosomes and the secondary
completely disappear. oocyte contributes another 23 chromosomes.
Therefore the zygote (fusion of the nuclear
Metaphase material of the ovum and sperm) receives half its
The chromatids are arranged along the centre of chromosomes from each parent, giving a total of
the cell midway between the centrioles located at 46 chromosomes.
opposite ends of the cell. They line up centrally Meiosis involves two cell divisions in succession
along the spindle fibres. One strand of each with the production of four haploid daughter cells
chromatid faces one pole of the cell, and the other (Figure 5) (Vanputte et al 2009). Each daughter cell
strand faces the opposite pole. has half the number of chromosomes of the parent
cell. The different stages involved in meiosis are:
Anaphase Prophase
 I.
At the beginning of anaphase the centromere of Metaphase
 I.
each of the 46 chromatids divides, separating the Anaphase
 I.
two parts of each chromatid. One chromatid is Telophase
 I.
now pulled towards one pole of the cell, while the Interkinesis.

other is pulled towards the opposite pole of the cell. Prophase
 II.
Once separated, the chromatids are referred to as Metaphase
 II.
chromosomes (Tortora and Derrickson 2012). Anaphase
 II.
Telophase
 II.
Telophase During prophase I the chromatin condenses to form
During telophase the chromosomes at opposite ends pairs of chromosomes, each of which is composed
of the cell begin to unravel and lengthen (Tortora of two chromatids joined by a centromere. It is
and Derrickson 2012). The spindle fibres disappear worth highlighting that one chromosome originates
and a new nuclear envelope appears around from the male and the other from the female
both sets of chromatin and the chromosomes are
organised to form two separate nuclei at opposite
ends of the cell (Vanputte et al 2009). The cell now FIGURE 5
cleaves down the midline and divides into two parts. Meiosis
Each nucleus is now surrounded by cytoplasm and
the organelles are equally divided between the two
new genetically identical cells. Each cell now enters
interphase where there is much metabolic activity
and cellular growth takes place.

Clinical note
Nerve cells or neurones lose the capacity to undergo Cell
mitosis. This means that if neurones are damaged division 1
or destroyed, such as occurs in stroke patients,
then new nerve cells are not produced to repair the
damage. The functions that those nerve cells were
responsible for will be lost, although other areas of
the brain may be able to compensate for some or all
of the lost function.

Meiosis
Sexual reproduction necessitates the fusion of a
sperm cell from the male with a secondary oocyte
Cell
(an immature egg cell) from the female. To ensure division 2
that the number of chromosomes remains constant
from generation to generation, the number of
chromosomes in the sex cells must be half that
present in the somatic cells (Watson 2011). This
requires a special form of cell division known as

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parent. The centrioles produce spindle fibres during present on a single chromosome, the characteristic
prophase I and the nuclear membrane begins to will not be expressed. This means that the gene is
disintegrate. In metaphase I, the chromosomes not activated and therefore the characteristic will
are arranged along the equator of the cell with not be seen. These genes are therefore said to be
their centromeres attached to the spindle fibres. recessive. An example of a recessive gene would be
During anaphase I each of the paired chromosomes the gene that causes cystic fibrosis. If only one copy
separate and are pulled to opposite poles of the of the gene is present then disease will not arise.
cell. However, this separation does not involve the However, if two copies of the gene are present then
splitting of the centromere nor do the chromatids the person will have cystic fibrosis.
separate from each other. Rather, each chromosome
separates from its ‘twin’ (Saladin 2011). In telophase
I the cell divides to form two new daughter cells Genetic mutations
each with double-stranded chromosomes. However, Each time a cell divides the DNA double helix
each cell contains 23 unpaired chromosomes. New unwinds and each strand acts as a template for
nuclear membranes form around the chromosomes the production of a new strand of DNA – DNA
and the cytoplasm divides. replication. The enzyme DNA polymerase enables
The period of interkinesis is similar to interphase this process. However, errors can occur during
in mitosis and is a brief rest period in the cell replication. Some errors are of no consequence. For
division process. example, ACC and ACG both code for threonine,
The daughter cells now enter prophase II so if the third nucleotide ‘C’ is replaced by a ‘G’ the
during which the nuclear membrane of the two end result would be the same. However, a different
daughter cells disintegrates and new spindle error may lead to the failure of the gene to code for
fibres are produced. Metaphase II involves the a protein properly, such that the effectiveness of the
arrangement of chromosomes along the equator protein is reduced or it is not produced at all.
of the cell with their centromeres attached to To minimise the number of errors that may
spindle fibres. The centromeres divide during occur during replication, another enzyme, also a
anaphase II and single chromatids are pulled polymerase, scans the newly replicated strand of
to opposite poles of the cell. Each chromatid is DNA for errors and corrects them. This reduces
composed of a single-stranded chromosome. significantly the number of errors that occur, but
During telophase II nuclear envelopes develop does not eliminate them completely.
around the chromosomes, the cytoplasm divides While some mutations are of no consequence,
and the two daughter cells from telophase I others may lead to the cell functioning less
divide to form four daughter cells, each with efficiently. If the mutation is severe enough the
23 single-stranded chromosomes. As previously daughter cell may not survive. Some mutations go
mentioned, when fertilisation of an ovum by a on to cause cancers. Carcinogens – environmental
sperm occurs each contributes 23 chromosomes agents that cause mutations in the DNA – also
giving the new cell a total of 46 chromosones. cause cancer.
Mutations that occur in the formation of the sex
cells, gametes, can go on to cause genetic defects in
Genetic inheritance future generations.
Humans have genetic material from both
biological parents. The genes carry information
that codes for various characteristics. The total Genetic disease
of all genetic material contained within a cell is Several disorders result from the inheritance of
known as the genotype of that individual. The a faulty gene or chromosome. Table 1 highlights
total of all characteristics that can be observed some genetic and chromosomal disorders. It should
as a result of the actions of the genotype is called be noted that conditions such as hypertension,
the phenotype. coronary heart disease and diabetes involve the
Each individual receives half of his or her DNA complex interaction of several genes with a range
from each parent. Some genes are said to be of environmental factors.
dominant for a given characteristic; only one copy
of the gene needs to be present for the characteristic
to be evident. A good example of this would be Gene therapy
the gene that codes for facial dimples – only one Gene therapy is a form of treatment that aims to
copy of the gene needs to be present for dimples to correct the underlying genetic defect. Its potential
be present. Other characteristics require the gene is still being explored in laboratory and clinical
to be present on each of the chromosomes. If only trials. This technique may allow doctors to treat

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TABLE 1
Examples of inherited disorders

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Disorder Gene of chromosome involved Prevalence Effect Treatment
Haemochromatosis A mutation known as C282Y One in 200 people in northern Europe Iron overload resulting in damage to a Regular venesection. Reduction
of the HFE gene. Another has haemochromatosis. More than one wide range of tissues and organs, including in the amount of iron ingested
mutation, H63D, on the same in ten carries a single gene mutation but not restricted to type 2 diabetes, in the diet.
HFE gene can also cause for this disorder. heart failure, arthritis, liver damage and
this disorder. It is autosomal impotence.
recessive.
Cystic fibrosis Mutation of the CFTR gene Around one in 25 people carry a single Production of abnormally thick and sticky A range of healthcare

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located on chromosome 7. It is recessive gene for cystic fibrosis. mucus affecting primarily the respiratory professionals is involved
autosomal recessive. There are approximately 8,000 people and gastrointestinal systems. This leads in caring for people with
with cystic fibrosis in the UK. to repeated chest infections, culminating cystic fibrosis. These include
Art & science life sciences: 3

in respiratory failure. It also causes physiotherapists to help clear


malnutrition. Cystic fibrosis-related diabetes the chest of mucus and to
may occur secondary to pancreatic damage. assist the person in taking
exercise. Dietitians assist
with maintaining adequate
nutrition. Drugs used include
bronchodilators and antibiotics,
DNase to help break down
mucus and pancreatic enzymes
to help with digestion.
Breast cancer Variations of the BRCA1, An estimated 5-10% of all breast Cancer. A range of treatment options
BRCA2, CDH1, PTEN, STK11 cancers are hereditary. are available for breast cancer.
and TP53 genes increase Some women now choose
the risk of developing breast preventive mastectomy should
cancer. they have a gene for hereditary
breast cancer.
Huntington’s disease Mutation of the HTT gene. It is It is estimated that 6,000-10,000 This is a disorder of the central nervous Symptomatic treatment,
autosomal dominant. people in the UK have Huntington’s system affecting men and women. Onset is for example speech therapy
disease. Approximately 3% of cases usually between 30 and 50 years. Clinical to improve speech and
have no previous family history of the features include motor effects, diminished communication difficulties, and
disease, which suggests that it has cognitive function and mood changes. As a high calorie diet to prevent
arisen as a new mutation. the disease progresses features may include weight loss.
involuntary movements, difficulty in speech
and swallowing, and weight loss.
Down’s syndrome Trisomy 21 – an affected Affects about one in 1,000 infants Characteristic facial appearance with small N/A.
individual has three copies of born in the UK each year. The ears, protruding tongue, small stature.
chromosome 21 instead of the likelihood of having a baby with Heart defects, gastrointestinal problems,
usual two. This accounts for Down’s syndrome increases with constipation, thyroid problems as well as

© NURSING STANDARD / RCN PUBLISHING


about 94% of all cases. Other maternal age. hearing and sight difficulties.

27/07/2012 12:21
types include translocation Susceptibility to infection is also common.

p35-42w48.indd 41
of chromosome 21 where the Later in life, leukaemia and Alzheimer’s
extra chromosome is attached disease are more prevalent. Individuals may
to another chromosome; and have moderate to severe learning disabilities.
mosaic Down’s syndrome Autistic spectrum disorders are more
when only some of the cells in common.
the individual carry the extra
chromosome – these individuals
usually have a milder
presentation and account for
about 2% of all cases.
Retinoblastoma Mutations in the RB1 gene About 40-50 children develop Visual defect may range from slight to Depending on location and
cause most cases of retinoblastoma each year in the UK. severe. Occasionally, surgical removal of the extent of tumour – cryotherapy,
retinoblastoma. Approximately eye is required. There is also an increased laser therapy, radiotherapy and
40% of cases are germinal, lifetime risk of other cancers, notably chemotherapy may be possible.
that is the mutation is present osteosarcoma, soft tissue cancers and

© NURSING STANDARD / RCN PUBLISHING


in the sex cells, and is therefore melanoma.
inherited. It is an autosomal
dominant condition.
Sickle cell anaemia Mutations in the HBB gene More than 12,500 people in the UK People with sickle cell anaemia have an There is no cure, but the
cause a range of blood have sickle cell anaemia. People with abnormal form of haemoglobin (HbS as frequency and severity of
disorders, including sickle cell sickle cell anaemia are mostly of opposed to HbA) in their red blood cells. so-called sickle cell ‘crises’
disease and beta thalassaemia. African or Caribbean origin although This causes their red blood cells to assume can be reduced by prompt
It is an autosomal recessive it can also affect those from Asia, an abnormal shape and to be more rigid. recognition and treatment.
condition. the Middle East and the eastern These cells can become lodged in blood Regular checks should be
Mediterranean. There are about capillaries preventing oxygen from reaching made to assess end organ
240,000 carriers (people who only the tissues and causing damage and pain. damage. Treatment can include
have one copy of the faulty gene) in These cells also break up easily leading to prophylactic antibiotics,
the UK. They are said to have sickle anaemia. supplemental oxygen, and
cell trait. pain-relieving measures
including analgesics. Anaemia
may require repeated blood
transfusions that can then
lead to iron overload. As iron
overload is toxic this must be
dealt with by administration of
an iron-chelating agent.
Muscular dystrophy Mutations in the DMD gene One in 3,500 male births is at risk of Characterised by progressive muscle There is no cure for this
on the X chromosome cause developing muscular dystrophy. There weakness in skeletal muscle. It may also condition, but medication,
Duchenne’s muscular dystrophy. are approximately 1,500 boys living affect cardiac muscle leading to dilated exercise and physiotherapy can
This is one of 20 different with the disease in the UK at any given cardiomyopathy. Muscular atrophy is also help in symptom management.
forms of muscular dystrophy. It time. a feature of certain types of muscular Physical aids can assist patient
is X-linked recessive. dystrophy. mobility.

august 1 :: vol 26 no 48 :: 2012  41 


(Adapted from the National Library of Medicine 2012)

27/07/2012 12:21
Art & science life sciences: 3

POINTS FOR PRACTICE a disorder by inserting a gene into a patient’s


Consider the patients with whom you are currently working. Is there a cells. Researchers are testing several different
genetic component to any of their health problems? In what way does approaches to gene therapy. These include:
this genetic element result in ill health? Replacing
 the mutated gene with a healthy copy
What carcinogens might you be exposed to in your everyday life? What of the gene.
cancers might they trigger? How might you lessen the risk? Inactivating
 the gene that is functioning
Consider how you might use your knowledge and understanding of improperly.
genetics and inheritance in your everyday practice?
Introducing
 a new gene into the body to help
combat a specific disease.
Work is ongoing to make sure that such therapy
GLOSSARY will be safe and effective.
Autosome
Any chromosome other than a sex chromosome.
Chromosomes Conclusion
Deoxyribonucleic acid (DNA) is packaged within the cell as a tightly
Knowledge of genetics and inheritance is often
wound substance known as a chromosome. There are 23 pairs of
chromosomes in human body (somatic) cells and 23 chromosomes in
key to understanding how individuals become ill.
human sex cells or gametes. Several disorders have clear patterns of inheritance,
Deoxyribonucleic acid (DNA) such as cystic fibrosis or haemochromatosis,
A molecule which stores genetic information. It is located in the nucleus others such as coronary heart disease or diabetes
of the cell although a small amount is contained within the mitochondria. have a genetic element, but the way in which
Gamete the disease finds expression in any individual
This term refers to the germ cells or sex cells of an organism, for example is often complicated and varied. Genes also
sperm cells in males and ova in females. interact in many instances with the environment
Genes in which we live and as no two individuals live
A section of DNA which codes for the production of a specific protein.
in identical environments then this can also alter
Meiosis
A form of cell division that produces daughter cells with only half the
the outcome of diseases with a genetic element.
number of chromosomes. Meiosis produces the sex cells, sperm and ova, An understanding of genetics can help healthcare
within the body. professionals communicate more effectively with
Mitosis patients and assist in planning and delivering
A form of cell division where the parent cells replicate to produce two appropriate care. In this article the authors have
daughter cells, which are genetically identical to the parent. tried to explain information in such a way to allow
Ribonucleic acid (RNA) the nurse to appreciate the complexity of genetics
Three molecules (mRNA, rRNA, tRNA) found in the cell which converts and to apply that information to his or her area
the genetic information from DNA into a particular protein. of practice NS

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