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Genetics, Mitosis and Meiosis
Genetics, Mitosis and Meiosis
The synthesis of art and science is lived by the nurse in the nursing act
Josephine G Paterson
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
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
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
p35-42w48.indd 40
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
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
27/07/2012 12:21
Art & science life sciences: 3
References
Kumar P, Clark M (Eds) (2009) Patton KT, Thibodeau GA (2010) Principles of Anatomy and Version. Ninth edition. John Wiley
Kumar & Clark’s Clinical Medicine. Anatomy and Physiology. Physiology: Organization, and Sons, Hoboken NJ.
Seventh edition. Saunders Seventh edition. Mosby Elsevier, Support and Movement, and
Elsevier, London. St Louis MO. Control Systems of the Human Vanputte C, Regan J, Russo AF
Body. Volume 1. Twelfth (2009) Seeley’s Essentials of
National Library of Medicine Saladin KS (2011) Anatomy and edition. John Wiley and Sons, Anatomy and Physiology. Seventh
(2012) Genetics Home Reference. Physiology: The Unity of Form and Hoboken NJ. edition. McGraw-Hill, Boston MA.
Your Guide to Understanding Function. Second edition. McGraw
Genetic Conditions. http://ghr. Hill, Boston MA. Tortora GJ, Derrickson BH (2012) Watson R (2011) Anatomy and
nlm.nih.gov (Last accessed: Essentials of Anatomy and Physiology for Nurses. Thirteenth
July 12 2012.) Tortora GJ, Derrickson BH (2009) Physiology. International Student edition. Elsevier, Edinburgh.