Learning outcomes After studying this Unit you should know: that certain minerals are required in the body and that some minerals form essential structural components of tissues; that sodium, potassium, calcium and chloride ions are important in maintaining the correct composition of cells and of the tissue fluids around them (homeostasis); that some minerals are essential components of important molecules such as hormones and enzymes; that the correct
Acknowledgements Except for third party materials and otherwise stated (see terms and conditions), this content is made available under a Creative Commons Attribution-NonCommercial-ShareAlike 2.0 Licence All other materials included in this unit are derived from content originated at the Open University. 1. Join the 200,000 studen
9 Summary In this unit you have found out that: The sensation of pain is caused by the release of a chemical (prostaglandin) that stimulates the nerve endings and sends an electrical message to the brain. Pain can be reduced if the formation of prostaglandin can be inhibited. Prostaglandin is formed, from arachidonic acid, in a cavity in the active site of the enzyme cyclooxygenase (COX). Geometrical isomerism
1.8 Enter aspirin! Aspirin is able to release part of its ester group (Figure 15) in a hydrolysis reaction. Look again at the structure of aspirin, 2.8, and identify this group on the molecule. It is known as an acetyl group and accounts for aspirin also being called acetylsalicylic acid. The acetyl group on aspirin is fairly easily removed and can be available for forming another ester with an —OH group on another molecule; in this case, part of the structure that makes up the inside of the cavi
1.1.1 The chemical structure of DNA This unit explores the chemical nature of the genome. Genomes are composed of DNA, and a knowledge of the structure of DNA is essential to understand how it can function as hereditary material. DNA is remarkable, breathtakingly simple in its structure yet capable of directing all the living processes in a cell, the production of new cells and the development of a fertilized egg to an individual adult. DNA illustrates beautifully the precise relationship between molecular structure and b
Learning outcomes After studying this unit you should understand: the basic composition and structure of DNA; what is meant by complementary DNA base pairing; how base pairing allows a mechanism for DNA replication; the number of DNA molecules within a chromosome.
4 From DNA to RNA: transcription In the process of transcription, the information in a gene, i.e. the DNA base sequence, is copied, or transcribed, to form an RNA molecule. RNA is therefore an intermediary in the flow of information from DNA to protein. Before we consider the details of transcription, we will first look at the structure of RNA. The name ribonucleic acid suggests that RNA is chemically related to DNA. Like DNA, RNA is a chain of nucleotides. 3 The flow of information from DNA to RNA to protein The information flow from DNA to protein is more complex than shown in Figure 1. The genetic information encoded within the DNA of a gene is carried via an intermediary molecule, RNA (ribonucleic acid). Information within a cell can therefore be seen as passing from DNA, via RNA, to a protein. This flow of information can b 2 One gene–one protein A gene is a short section of a long DNA double helix molecule, which comprises a linear sequence of base pairs. What is the basic (primary) structure of a protein? 1 Using information stored in DNA One important property of DNA is that it carries genetic information in the simple coding language of just four bases. These bases, which can be arranged in a huge variety of sequences, represent a vast potential store of information. In this unit, we consider how this information is used by the cell. The key structural feature of complementary base pairs, which plays an important role in both stability and replication, is also the basis for how DNA functions as genetic material. How do Learning outcomes After studying this unit you should understand: how the linear sequence of DNA within a gene is related to the linear sequence of amino acids of a protein how the information in DNA is carried via RNA to make a protein how RNA is synthesised from DNA by the process of transcription where the processes of transcription and translation occur within the cell Introduction This unit explores how information contained in DNA is used, explaining the flow of information from DNA to RNA to protein. Also introduced are the concepts of transcription (as occurs between DNA and RNA) and translation. This unit is an adapted extract from the course Human genetics and health issues
(SK195) Acknowledgements The content acknowledged below is Proprietary (see terms and conditions) and is used under licence. Grateful acknowledgement is made to the following sources for permission to reproduce material in this unit: 1.1.6 Late-onset multifactorial disorders It is becoming clear that many, if not most, of the common diseases that affect the Western world are multifactorial disorders with some inherited genetic component. Some of the genes that render individuals susceptible to diabetes, coronary heart disease, hypertension and many cancers, including breast cancer, have been identified and can be tested now for the presence of mutations. Multifactorial disorders present a real challenge for genetic medicine. For example, while it may be true that 1.1.5 Late-onset single-gene disorders An individual might know that a late-onset disease such as Huntington's disease (HD) is present in their immediate family and that they might have inherited the disease gene(s). The problems of genetic testing for HD revolve around the fact that it is pre-symptomatic. One dilemma is the long delay between testing positive and developing the clinical symptoms of the disorder in middle age. Is it better not to know and live in hope, or as one victim cried ‘get it over, I'm so tir 1.1.4 Genetic testing of adults Huntington's disease is a good example of a late-onset disorder because it is fatal, non-treatable, relatively frequent and has a strong genetic element that can be tested for. There are others that fall into a similar category, i.e. mainly relate to a single gene, such as adult polycystic kidney disease. The issues surrounding late-onset multifactorial diseases, such as diabetes and breast cancer, will be dealt with separately. To date, relatively few diseases that fall into both these categ 1.1.3 Genetic testing of children Within clinical genetic services, a difference has grown up between the testing of children and the testing of adults. Sometimes the genetic testing of children is relatively uncontroversial. For example, the genetic test may simply be to confirm a medical diagnosis that has been made on clinical grounds. So a three-year-old with low weight, blocked lungs and poor digestion may be given a genetic test to see whether they have CF or not. There are other cases where a test is used predict 1.1.2 Pre-natal diagnosis The type of genetic testing that the majority of us are most likely to come across is still pre-natal diagnosis (PND). This involves testing a fetus during pregnancy, to see whether it is likely to suffer from a number of different disorders — some genetic, some not. While recent developments allow tests for certain multifactorial genetic diseases (such as spina bifida), pre-natal diagnosis has been available since the 1960s to test for Down's syndrome. Most cases of Down's syn 1.1.1 Genetic counselling In the UK and many other countries, genetic testing is provided by the National Health Service (NHS) or its equivalent, only after patients have undergone genetic counselling. This is defined as the provision of information and advice about inherited disorders, and includes helping people to: Understand medical facts; Appreciate the way in which inheritance contributes to the disease in question; Understand the Learning outcomes After studying this unit you should understand: something of the role of a genetic counsellor and its non-directiveness the difference between pre-natal diagnosis, childhood testing and adult testing and give some examples of diseases that may be tested for the ethical and moral difficulties involved in making decisions on whether or not to carry out such tests
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