Have people ever said to you, "It's in your genes"? They were probably talking about a physical characteristic, personality trait, or talent that you share with other members of your family.
We know that genes play an important role in shaping how we look and act and even whether we get sick. Now scientists are trying to use that knowledge in exciting new ways, such as treating health problems.
To understand how genes work, let's review some biology basics. Most living organisms are made up of cells that contain a substance called deoxyribonucleic (pronounced: dee-AHK-see-rye-bow-noo-KLEE-ik) acid (DNA).
DNA contains four chemicals (adenine, thymine, cytosine, and guanine — called A, T, C, and G for short) that are strung in patterns on extremely thin, coiled strands in the cell. How thin? Cells are tiny — invisible to the naked eye — and each cell in your body contains about 6 feet of DNA thread, for a total of about 3 billion miles of DNA inside you!
So where do genes come in? Genes are made of DNA, and different patterns of A, T, G, and C code for the instructions for making things your body needs to function (like the enzymes to digest food or the pigment that gives your eyes their color). As your cells duplicate, they pass this genetic information to the new cells.
DNA is wrapped together to form structures called chromosomes. Most cells in the human body have 23 pairs of chromosomes, making a total of 46. Individual sperm and egg cells, however, have just 23 unpaired chromosomes. You received half of your chromosomes from your mother's egg and the other half from your father's sperm cell. A male child receives an X chromosome from his mother and a Y chromosome from his father; females get an X chromosome from each parent.
Genes are sections or segments of DNA that are carried on the chromosomes and determine specific human characteristics, such as height or hair color. Because you have a pair of each chromosome, you have two copies of every gene (except for some of the genes on the X and Y chromosomes in boys, because boys have only one of each).
Some characteristics come from a single gene, whereas others come from gene combinations. Because every person has about 25,000 different genes, there is an almost endless number of possible combinations!
Heredity is the passing of genes from one generation to the next. You inherit your parents' genes. Heredity helps to make you the person you are today: short or tall, with black hair or blond, with brown eyes or blue.
Can your genes determine whether you'll be a straight-A student or a great athlete? Heredity plays an important role, but your environment (including things like the foods you eat and the people you interact with) also influences your abilities and interests.
A person can have changes (or mutations) in a gene that can cause many issues for them. Sometimes changes cause little differences, like hair color. Other changes in genes can cause health problems.
Mutations in a gene usually end up causing that particular gene copy to not do its job the way it normally should. Since we have two copies of every gene, typically there's still a "normal" working copy of the gene. In these cases, usually nothing out of the ordinary happens since the body can still do the jobs it needs to do. This is an example of an autosomal recessive trait.
For someone to have a recessive disease or characteristic, the person must have a gene mutation in both copies of the gene pair, causing the body to not have working copies of that particular gene.
Genes can be either dominant or recessive. Dominant genes show their effect even if there is just one mutation in one copy of that gene pair; the one mutation "dominates" the normal back-up copy of the gene, and the characteristic shows itself.
A person can be born with gene mutations, or they can happen over a lifetime. Mutations can occur when cells are aging or have been exposed to certain chemicals or radiation. Fortunately, cells usually recognize these types of mutations and repair them by themselves. Other times, however, they can cause illnesses, such as some types of cancer.
If the gene mutation exists in egg or sperm cells, children can inherit the gene mutation from their parents. When the mutation is in every cell of the body (meaning a child was born with it), the body is not able to "repair" the gene change.
Researchers have identified more than 4,000 diseases that are caused by mutations. But having a genetic mutation that may cause a disease or condition doesn't always mean that a person will actually develop that disease or condition.
On average, people probably carry from 5 to 10 genes with mutations in each of their cells. Problems happen when the particular gene is dominant or when a mutation is present in both copies of a recessive gene pair. Problems can also happen when several variant genes interact with each other — or with the environment — to increase susceptibility to diseases.
If a person has a change in a dominant gene that is associated with a particular condition, he or she will usually have features of that condition. And, each of the person's children will have a 1 in 2 (50%) chance of inheriting the gene and developing the same features. Diseases and conditions caused by a dominant gene include achondroplasia (pronounced: ay-kon-druh-PLAY-zhuh, a form of dwarfism), Marfan syndrome (a connective tissue disorder), and Huntington disease (a degenerative disease of the nervous system).
People who have a change in just one copy of a recessive gene are called "carriers." They don't usually have the disease because they have a normal gene copy of that pair that can do the job. When two carriers have a child together, however, the child has a 1 in 4 (25%) chance of getting a gene with a mutation from both parents, which would result in the child having the disease. Cystic fibrosis (a lung disease), sickle cell anemia (a blood disorder), and Tay-Sachs disease (which causes nervous system problems) are caused by recessive mutations from both parents coming together in a child.
With recessive gene mutations on the X chromosome, usually only guys can develop the disease because they have only one X chromosome. Girls have two X chromosomes — since they have a back-up copy of another X chromosome, they don't always show features of X-linked conditions. These include the bleeding disorder hemophilia (pronounced: hee-muh-FIL-ee-uh) and color blindness.
Sometimes when an egg and sperm unite, the new cell gets too many or too few chromosomes, which can cause issues for the child. For example, most children born with Down syndrome have an extra chromosome number 21.
In some cases, people who are concerned that they might carry certain variant genes can have genetic testing so they can learn their children's chances of inheriting a disease. Pregnant women can also have tests done to see if the fetus they are carrying might have certain genetic illnesses. Genetic testing usually involves taking a sample of someone's blood, skin, or amniotic fluid and checking it for genetic changes.
Sometimes scientists alter genes on purpose. For many years, researchers have altered the genes in plants to produce other plants with special characteristics, such as an increased resistance to disease and pests or the ability to grow in difficult environments. We call this genetic engineering.
Gene therapy is a promising new field of medical research. In gene therapy, researchers try to supply copies of healthy genes to cells with variant or missing genes so that the "good" genes will take over. Viruses are often used to carry the healthy genes into the targeted cells because many viruses can insert their own DNA into targeted cells.
But there are problems with gene therapy. Scientists still don't quite know what every gene in the human body does. Huge scientific efforts like The Human Genome Project and related projects have completed a map of the entire human genome (all of the genetic material on a living thing's chromosomes), but it will take many more years to find out what each gene does and how they interact with one another. For most diseases, scientists don't know if and how genes play a role. Plus, there are major difficulties inserting the normal genes into the proper cells without causing problems for the rest of the body.
There are also concerns that people might try changing genes for ethically troubling reasons, such as to make smarter or more athletic children. No one knows what the long-term effects of that kind of change would be.
Still, for many people who have genetic diseases, gene therapy holds the hope that they — or their children — will be able to live better, healthier lives.
Reviewed by: Angela L. Duker, MS, CGC
Date reviewed: June 2013
|National Human Genome Research Institute (NHGRI) The leader in the Human Genome Project, the NHGRI aims to improve human health and fighting disease through genomic research.|
|Genetic Science Learning Center (GSLC) GSLC is a joint project of the University of Utah Eccles Institute of Human Genetics and School of Medicine and the Utah Museum of Natural History, which helps people understand how genetics affect their lives and society.|
|Sickle Cell Information Center The mission of this site is to provide patient and professional education, news, research updates, and sickle cell resources.|
|Cystic Fibrosis Foundation This organization offers information about the illness, public policy, clinical trials and local chapters.|
|National Tay-Sachs and Allied Diseases Foundation The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families.|
|Little People of America LPA is a nonprofit organization that provides support and information to people of short stature and their families.|
|National Hemophilia Foundation (NHF) The NHF's Web site contains information on bleeding disorders such as hemophilia.|
|National Down Syndrome Society (NDSS) NDSS strives to ensure that all people with Down syndrome have the opportunity to achieve their full potential in community life. Call: (800) 221-4602|
|NOAH - The National Organization of Albinism and Hypopigmentation This site provides information about albinism and hypopigmentation.|
|DOEgenomes.org This Web site produced by the U.S. Department of Energy Office of Science focuses on genome programs including the Human Genome Project.|
|National Marfan Foundation The National Marfan Foundation is a resource for individuals and families affected by Marfan syndrome and related disorders.|
|von Willebrand Disease Excessive or prolonged bleeding could be a sign of a genetic disorder known as von Willebrand disease. Find out about this rare disorder in this article.|
|Dwarfism A dwarf is a short-statured person whose adult height is 4 feet 10 inches or under. Find out what happens when a person has dwarfism and why some people are born with it.|
|Cystic Fibrosis Cystic fibrosis (CF) is an inherited disease that causes the body to produce mucus that's extremely thick and sticky. It mainly affects the lungs and the pancreas, causing serious breathing and digestive problems.|
|Albinism Humans, animals, and even plants can have albinism, a condition that gives people a kind of pale appearance. Find out more about albinism here.|
|Turner Syndrome Turner syndrome is a genetic disorder that affects about 1 in every 2,500 females. Read this article to learn more about the condition and how doctors treat Turner syndrome.|
|Marfan Syndrome Marfan syndrome affects the body's connective tissue and can cause problems in the eyes, joints, and heart. But teens with Marfan syndrome can live normal lives. Find out how in this article.|
|Muscular Dystrophy Muscular dystrophy is a disorder that weakens a person's muscles. Because the condition weakens muscles over time, teens and adults who have the disease can gradually lose the ability to do everyday tasks.|
|Having a Healthy Pregnancy Whether you feel confused, worried, scared, or excited, you'll want to know how your life will change, what you can do to have a healthy baby.|
|Hemophilia For guys with a rare bleeding disorder called hemophilia, minor cuts and bruises can be a big deal. The good news is that it's a lot easier to control now than in the past, and most guys with hemophilia live pretty normal lives.|
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