Understanding Genetics

Most people know that genetics has to do with heredity: the act of passing on individual or family characteristics to the next generation. However, exactly how this happens in the body and how this process is influenced by the environment are not as commonly understood. Genetics is fascinating because its all about you! Its good to understand a few of the key concepts in genetics because it explains how you inherit and then pass on the traits that make each of us all truly unique individuals. Genetics is the study of heredity Genetics is the study of heredity the process in which a parent passes certain genes on to their children. Genes determine what features or qualities we have, and these are called traits. Each of us has a different combination of traits that make us unique. Traits can be physical, such as our height or eye colour. They can also be behavioural or relate to our chances of developing certain health conditions. Traits are passed from generation to generation. We inherit our traits from our parents and they inherit their traits from their parents, and so on. As a result, our DNA can provide information about our ancestors. In fact, it can tell us how closely we are related to people from all over the world. DNA carries your genetic code Our bodies are made up of around five trillion cells. Each of these cells contains hereditary information in the form of DNA or deoxyribonucleic acid. The information in DNA is stored as a code made up of nucleotides. Nucleotides are made of up a molecule of sugar, one of phosphoric acid and one of four chemicals called bases: Adenine (A) Guanine (G) Cytosine (C) Thymine (T) The order, or sequence, of the nucleotides is like an instruction manual that gives you your unique traits and keeps your body functioning properly. DNA is packaged into chromosomes DNA is packaged tightly into structures called chromosomes. Humans have 23 pairs of chromosomes in almost every cell in the body. Each parent contributes one chromosome to each pair, so you get half our chromosomes from our mother and half from our father. What is genetics? Genetics is the area of biology that studies heredity and spontaneous changes in genetic material. Heredity refers to the passing of features, such as eye colour, from parent to child. In health care, genetics is important because some diseases, or the risk of getting some diseases, can be passed from parent to child or are caused by a spontaneous change in genetic material. As far back as Aristotle in Ancient Greece, scientists understood that children were like their parents because certain features were passed from generation to generation. In 1860, Gregor Mendel discovered rules about how some features were passed from generation to generation by studying pea plants. The rules he discovered are still useful for understanding how features that are controlled by single genes are passed from parent to child. Today, genetic research holds the promise of finding a cure for diseases that are caused or influenced by genes. Chromosomes carry genes Chromosomes contain all the bodys genes. Genes are segments of DNA that directly influence one or more traits. Each gene is like a recipe for making a certain protein with a specific function in the body. Your genes are what make you unique. They help determine your appearance from your height to your hair colour. They also determine your mental abilities and natural talents such as sporting abilities, and affect your chances of developing certain health conditions. The combination of all your genes together is called your genotype. Your genes interact with the environment to affect your physical appearance and this outward expression of your genes is known as your phenotype. For

example, while identical twins share exactly the same genotypes, they may appear less and less identical if they experience different environmental factors, such as diet, climate or stress. What are genes? Heredity is controlled by genes. Genes are the basic units of heredity, and are made of lengths of DNA, which stands for deoxyribonucleic acid. DNA is a complex molecule that carries the information, or genetic code, that will determine many features of a living thing. There are about 30,000 genes in humans. This entire collection of genes is known as the human genome. The Human Genome Project, a major research project begun in 1990 and funded by the U.S. government, succeeded in creating a map of all the human genes in 2001. Every person has a unique set of genes. This is known as the genotype of that person.Phenotype refers to the features and qualities of a living thing that come from the genotype influenced by the environment. DNA is organized in chromosomes, structures that are found in every cell in our body. Each chromosome has a single long DNA molecule. Cells are the basic building blocks of living things. Within each cell, there are 23 chromosome pairs. One chromosome in each pair comes from the mother, and the other comes from the father. Twenty-two of these chromosome pairs, numbered from one to 22 based on their features, including size, are the same for males and females. The 23 rd pair of chromosomes is called sex chromosomes. These are different in females and males. Females have two X chromosomes (XX). Males have an X chromosome and a Y chromosome (XY). Except for the sex chromosomes in males, both chromosomes in a pair contain genes with the same function in the same order, but one copy of each gene comes from the mother and one comes from the father. Another structure in each cell, the mitochondria, also contains DNA. Mitochondria are structures that make energy for the cells by way of a chemical called adenosine triphosphate (ATP). Genes in the mitochondria, as well as in the nucleus of the cell, direct the cells to make the enzymes needed for ATP production. The DNA in mitochondria is inherited only from the mother. Mutations in this DNA have been related to some hereditary disorders. What do genes do? Genes control the making of a protein or help control the activity of other genes. Proteins are very important molecules for living things. There are many types of proteins that do many things. Some form the parts of the body, while some help control functions of the body. The activity of a gene is affected by the environment around it. When a baby is growing during pregnancy, the protein controlled by a gene can control a particular feature. Some features are controlled by one gene, but many features are controlled by a number of genes acting together under the influence of the environment at many levels. Genes are always found in pairs that control the making of the same protein, or the same feature. In some cases, one gene of the pair will control the feature. In this case the gene that controls the feature is called the dominant gene, and the other gene in the pair is called the recessive gene. If there are two copies of the recessive gene, the feature is controlled by the recessive gene. There are more than two types, or alleles of many genes. Most of these alleles are normal, and do not cause problems. Some types that have come from a change called mutation can cause disease. Many of the genes that cause disease are recessive. If a baby has only one copy of a recessive gene that causes a disease, she will not have the disease. But if the disease is caused by a dominant gene, one copy is sufficient to produce the disease Genes vary between individuals Genes come in different forms and this is what makes us all unique. Different versions of the same gene are called alleles. For example, the gene for eye colour has alleles for blue, brown, black and green eyes. Because you inherited half your chromosomes from your mother and half from your father, you have two alleles for each of your characteristics. An allele may be dominant or recessive. A dominant allele is one of a pair of alleles that suppresses the expression of the other allele. The suppressed allele is known as the recessive allele. Recessive alleles have little or no effect on your phenotype when paired with a more dominantallele. They only have an effect when paired with another recessive allele.

SNPs are genetic markers Our body is constantly making new cells. To do this, cells must make a copy of the DNA contained in them. Sometimes they make small errors during this process. These errors are called single nucleotide polymorphisms or SNPs (pronounced snips). SNPs represent a difference in a single nucleotide (A, T, C or G) in a DNA sequence. SNPs are the most common type of genetic variation among people. In fact, it is estimated that you have around 10 million SNPs in total. While many SNPs dont seem to have any obvious effects, some may lead to differences in your health or physical appearance. They may also help predict your risk of developing certain diseases, your response to different medicines, and your susceptibility to environmental factors such as toxins. SNPs can also be used to track the inheritance of disease genes within families. . Genes and the environment It is important to realize that just as genes influence physical characteristics and behaviour, characteristics of the individual, the environment, and the way the individual behaves influence and regulate the expression of genes. With very few exceptions, most physical traits, behaviours, and susceptibilities to disease are influenced by not just one, but a number of genes. But genes by themselves are not destiny. Their ultimate effect is the consequence of a complex series of interactions between genes and the environment, as noted above. The idea of hereditability, expressed as a ratio or a percentage, captures this idea. Among humans, height is a highly heritable characteristic. Around seventysix per cent of the variation in height is due to genetic factors. The balance of the variation in height, 24%, is related to environmental factors and their interaction with genes. Genetic fact file Different animals have different numbers of chromosomes: humans have 23 pairs, chimpanzee have 24 pairs, while butterflies have around 190 pairs. Human beings differ only in 0.1% of their genetic material the other 99.9% is identical. Human beings share 7% of their genes with E. coli bacterium, 21% with worms, 90% with mice and 98% with chimpanzees. If all the DNA in your body was put end to end, it would reach to the sun and back over 600 times. Only 2% of the human genome contains information for the formation of proteins. The rest are called non-coding regions because it is still not known what their specific function is. Almost all the cells in your body have DNA, except red blood cells. It takes about eight hours for one of your cells to completely copy its DNA. If the human genome was a book, it would be the equivalent of 800 dictionaries.