Genes & Inheritance

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Page 5 of 8

  • Genes and Inheritance
  • Genes and DNA
  • DNA & Cloning
  • DNA & Inheritance
  • What can go wrong?
  • Cystic Fibrosis: Paul's Story
  • How we can use Genes
  • Quiz

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What can go wrong?

Mutation

drawing of budgies
The basic colour of wild budgies is green. The many colour variations are a result of mutations in specific genes.

Mutation is a sudden change in a gene or a whole chromosome and will be passed on to new cells by mitosis, or to new individuals by meiosis.


In chromosome mutation an individual may be missing a chromosome or have an extra one. Down's syndrome is caused in humans by the presence of an extra copy of chromosome 21. A gene mutation is a change in the order of bases in the DNA molecule. The change may be very small but could have a severe effect on the individual as in certain diseases, for example, sickle cell anaemia .


Mutations happen randomly and by chance but the risk of mutation is increased by exposure to radiation and to certain chemicals, known as mutagens. If a mutation results in cancer, the mutagens responsible are known as carcinogens.


Most mutations are harmful or even fatal to an organism. However, on rare occasions, a mutation results in a new characteristic which can help the organism survive in unfavourable environmental conditions. The new characteristic will be passed to its offspring who can survive where others may die. This is an example of how natural selection and, over a long period, evolution, occurs.


Inherited diseases

Cystic fibrosis
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Cystic Fibrosis, one of the most common genetic diseases, develops as a result of a faulty recessive gene (c) which was identified as recently as 1989. To develop the disease a child must inherit the gene from both parents. If, as in the diagram, both parents are carriers, there is a one-in-four chance that a child will have the disease, a two-in-four chance of a child being a carrier and a one-in-four chance of the child being unaffected.


Huntington's family tree and cross diagram (affected people in blue)
Huntington's family tree (affected people in blue)

Unlike cystic fibrosis, Huntington's Disease is dominant, that is, it can be inherited if just one parent has this gene.



The diagram shows what can happen if one parent has the HD gene (and therefore has Huntington's disease) and the other parent does not. In this diagram the presence of the disease is shown by a capital H. In Huntington's the symptoms do not show until the sufferer is 35-40 years of age, by which time the faulty gene may have been passed on to children and even grandchildren.


Huntingtons disease
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Continuing genetic research has meant development of tests for some genetic diseases both in utero and after birth and treatments such as gene therapy.




Question 4


Study the sentences below, and drag and drop in the missing words.
suffer
carcinogens
survival
recessive
gene
disease
chromosome
21
DNA
mutation
 
 
1. In Down's Syndrome there is an extra
 
  number
 
.
2. A small change in the bases of
 
  is called a
 
.
3. Mutagens can cause
 
.
4.
 
            are chemicals that cause mutations in cells.
5. Natural selection could be said to be
 
  of the fittest.
6. Cystic Fibrosis occurs in children that have inherited both
 
  genes.
7. In genetics, a carrier is someone who has the
 
  for a disease but does not actually
 
  from it.

Mutation
A change in the arrangement or amount of genetic material in a cell.
Gene
A short piece of DNA which is responsible for the inheritance of a particular characteristic. It codes for the production of a specific protein.
Chromosomes
A chromosome is like a packet of coiled up DNA. Humans have 23 pairs of chromosomes. They are in the nucleus of every human cell.
Mitosis
Division of a cell nucleus which results in each daughter cell having the same number of chromosomes as the parent cell.
Meiosis
The type of cell division, which occurs in the ovaries and testes, to produce cells with a haploid number of chromosomes.
Down's syndrome
A disorder in which there is an extra number 21 chromosome in the body cells so that there are 47 chromosomes altogether. This results in a variable degree of learning difficulties and a characteristic appearance.
Bases
Bases, sometimes called nitrogenous bases, are the parts of the DNA molecule that join the two helix strands. They are like rungs on a ladder. There are four bases: adenine (A), thymine (T), guanine (G) and cytosine (C). Each base can only join with one other base - i.e. they join together in pairs: A with T and G with C.
DNA
Deoxyribonucleic acid. This is the molecule which contains the genetic code. It coils up tightly inside chromosomes. DNA is a double helix made from two strands which are joined together by pairs of bases.
Sickle cell anaemia
An inherited blood disease in which the red blood cells contain an abnormal type of haemoglobin.
Mutagen
A substance or process that increases the rate of mutation.
Carcinogen
Any substance that causes cancer.
Natural selection
The process in nature where the fittest individuals survive, reproduce and pass their characteristics on to their offspring.
Evolution
A theory, supported by much evidence, which suggests that the animal and plant species inhabiting the earth today are descended from simpler forms by a gradual process of change.
Cystic fibrosis
A genetic disease caused by a defective, recessive gene. It is characterised by the production of thick, sticky mucous in the lungs and pancreas which cause respiratory and digestive problems.
Carrier
A person who has the recessive genes for an inheritable disease but shows no symptoms.
Huntington's disease
An inherited disease caused by a single dominant gene. It typically develops between the ages of 35-50 and at present there is no cure.
Gene therapy
A new, experimental method of fighting disease by replacing a defective gene with a healthy gene.