- Describe inheritance in humans for autosomal and X-linked traits.
- Identify complex modes of human inheritance.
- Describe genetic disorders caused by mutations or abnormal numbers of chromosomes.
- situation in which one gene affects the expression of another gene
- gene therapy
- way to cure genetic disorders by inserting normal genes into cells with mutant genes
- genetic trait
- characteristic that is encoded in DNA
- multiple allele trait
- trait controlled by one gene with more than two alleles
- failure of replicated chromosomes to separate during meiosis II, resulting in some gametes with a missing chromosome and some with an extra chromosome
- chart showing how a trait is passed from generation to generation within a family
- situation in which a single gene affects more than one trait
- sex-linked trait
- traits controlled by a gene located on a sex chromosome
- X-linked trait
- trait controlled by a gene located on the X chromosome
Characteristics that are encoded in DNA are called genetic traits. Different types of human traits are inherited in different ways. Some human traits have simple inheritance patterns like the traits that Gregor Mendel studied in pea plants. Other human traits have more complex inheritance patterns.
Mendelian Inheritance in Humans
Mendelian inheritance refers to the inheritance of traits controlled by a single gene with two alleles, one of which may be dominant to the other. Not many human traits are controlled by a single gene with two alleles, but they are a good starting point for understanding human heredity. How Mendelian traits are inherited depends on whether the traits are controlled by genes on autosomes or the X chromosome.
Autosomal traits are controlled by genes on one of the 22 human autosomes. Consider earlobe attachment. A single autosomal gene with two alleles determines whether you have attached earlobes or free-hanging earlobes. The allele for free-hanging earlobes (F) is dominant to the allele for attached earlobes (f). Other single-gene autosomal traits include widow’s peak and hitchhiker’s thumb. The dominant and recessive forms of these traits are shown in Figure below. Which form of these traits do you have? What are your possible genotypes for the traits? The chart in Figure below is called a pedigree. It shows how the earlobe trait was passed from generation to generation within a family. Pedigrees are useful tools for studying inheritance patterns.
You can watch a video explaining how pedigrees are used and what they reveal at this link: http://www.youtube.com/watch?v=HbIHjsn5cHo.
CMIcreationstation – Pain in Pedigree Pups
Other single-gene autosomal traits include widow’s peak and hitchhiker’s thumb. The dominant and recessive forms of these traits are shown in Figure below. Which form of these traits do you have? What are your possible genotypes for the traits?
Traits controlled by genes on the sex chromosomes are called sex-linked traits, or X-linked traits in the case of the X chromosome. Single-gene X-linked traits have a different pattern of inheritance than single-gene autosomal traits. Do you know why? It’s because males have just one X chromosome. In addition, they always inherit their X chromosome from their mother, and they pass it on to all their daughters but none of their sons. This is illustrated in Figure below.
Because males have just one X chromosome, they have only one allele for any X-linked trait. Therefore, a recessive X-linked allele is always expressed in males. Because females have two X chromosomes, they have two alleles for any X-linked trait. Therefore, they must inherit two copies of the recessive allele to express the recessive trait. This explains why X-linked recessive traits are less common in females than males. An example of a recessive X-linked trait is red-green color blindness. People with this trait cannot distinguish between the colors red and green. More than one recessive gene on the X chromosome codes for this trait, which is fairly common in males but relatively rare in females (Figure below). At the link below, you can watch an animation about another X-linked recessive trait called hemophilia A.
Pedigree Analysis Activity
The following link is to a pedigree analysis activity. Autosomal dominant, autosomal recessive and sex-linked recessive inheritance is explored through an interactive activity. CK-12 Pedigree Analysis Animation
Most human traits have more complex modes of inheritance than simple Mendelian inheritance. For example, the traits may be controlled by multiple alleles or multiple genes.
Multiple Allele Traits
The majority of human genes are thought to have more than two alleles. Traits controlled by a single gene with more than two alleles are called multiple allele traits. An example is ABO blood type. There are three common alleles for this trait, which can be represented by the letters A, B, and O. As shown in Table below, there are six possible ABO genotypes but only four phenotypes. This is because alleles A and B are codominant to each other and both are dominant to O.
Blood Types: ABO and Rh (with donuts and sprinkles):
Can we take a break for a second and get some donuts? That was just cruel to have to watch that video and not have a box of donuts sitting on the counter.
Many human traits are controlled by more than one gene. These traits are called polygenic traits (or characteristics). The alleles of each gene have a minor additive effect on the phenotype. There are many possible combinations of alleles, especially if each gene has multiple alleles. Therefore, a whole continuum of phenotypes is possible. An example of a human polygenic trait is adult height. Several genes, each with more than one allele, contribute to this trait, so there are many possible adult heights. For example, one adult’s height might be 1.655 m (5.430 feet), and another adult’s height might be 1.656 m (5.433 feet) tall. Adult height ranges from less than 5 feet to more than 6 feet, but the majority of people fall near the middle of the range, as shown in Figure below.
Many polygenic traits are affected by the environment. For example, adult height might be negatively impacted by poor diet or illness during childhood. Skin color is another polygenic trait. There is a wide range of skin colors in people worldwide. In addition to differences in skin color genes, differences in exposure to UV light explain most of the variation. As shown in Figure below, exposure to UV light darkens the skin.
Sometimes a single gene may affect more than one trait. This is called pleiotropy. An example is the gene that codes for the main protein in collagen, a substance that helps form bones. The gene for this protein also affects the ears and eyes. This was discovered from mutations in the gene. They result in problems not only in bones but also in these sensory organs.
In other cases, one gene affects the expression of another gene. This is called epistasis. Epistasis is similar to dominance, except that it occurs between different genes rather than between different alleles for the same gene. An example is the gene coding for widow’s peak. A gene that codes for baldness would “hide” the widow’s peak trait if it occurred in the same person.
Many genetic disorders are caused by mutations in one or a few genes. Other genetic disorders are caused by abnormal numbers of chromosomes.
Genetic Disorders Caused by Mutations
Table below lists several genetic disorders caused by mutations in just one gene. Some of the disorders are caused by mutations in autosomal genes, others by mutations in X-linked genes. Which disorder would you expect to be more common in males than females?
You can click on any human chromosome at this link to see the genetic disorders associated with it:
|Genetic Disorder||Direct Effect of Mutation||Signs and Symptoms of the Disorder||Mode of Inheritance|
|Marfan syndrome||defective protein in connective tissue||heart and bone defects and unusually long, slender limbs and fingers||autosomal dominant|
|Sickle cell anemia||abnormal hemoglobin protein in red blood cells||sickle-shaped red blood cells that clog tiny blood vessels, causing pain and damaging organs and joints||autosomal recessive|
|Vitamin D-resistant rickets||lack of a substance needed for bones to absorb minerals||soft bones that easily become deformed, leading to bowed legs and other skeletal deformities||X-linked dominant|
|Hemophilia A||reduced activity of a protein needed for blood clotting||internal and external bleeding that occurs easily and is difficult to control||X-linked recessive|
Few genetic disorders are controlled by dominant alleles. A mutant dominant allele is expressed in every individual who inherits even one copy of it. If it causes a serious disorder, affected people may die young and fail to reproduce. Therefore, the mutant dominant allele is likely to die out of the population. A mutant recessive allele, such as the allele that causes sickle cell anemia (see Figure below and the link that follows), is not expressed in people who inherit just one copy of it. These people are called carriers. They do not have the disorder themselves, but they carry the mutant allele and can pass it to their offspring. Thus, the allele is likely to pass on to the next generation rather than die out.
CMIcreationstation – Sickle Cell Anemia – not evidence for evolution
Cystic Fibrosis and Tay-Sachs disease are two additional severe genetic disorders. They are discussed in the following video: http://www.youtube.com/watch?v=8s4he3wLgkM&feature=related (9:31).
Cystic Fibrosis “A Day in the Life”
Nathan’s Story; Tay-Sachs
Mistakes may occur during meiosis that result in nondisjunction. This is the failure of replicated chromosomes to separate during meiosis (the animation at the link below shows how this happens). Some of the resulting gametes will be missing a chromosome, while others will have an extra copy of the chromosome. If such gametes are fertilized and form zygotes, they usually do not survive. If they do survive, the individuals are likely to have serious genetic disorders. Table below lists several genetic disorders that are caused by abnormal numbers of chromosomes. Most chromosomal disorders involve the X chromosome. Look back at the X and Y chromosomes and you will see why. The X and Y chromosomes are very different in size, so nondisjunction of the sex chromosomes occurs relatively often. http://learn.genetics.utah.edu/content/begin/traits/predictdisorder/index.html
|Genetic Disorder||Genotype||Phenotypic Effects|
|Down syndrome||extra copy (complete or partial) of chromosome 21 (see Figure below)||developmental delays, distinctive facial appearance, and other abnormalities (see Figure below)|
|Turner’s syndrome||one X chromosome but no other sex chromosome (XO)||female with short height and infertility (inability to reproduce)|
|Triple X syndrome||three X chromosomes (XXX)||female with mild developmental delays and menstrual irregularities|
|Klinefelter’s syndrome||one Y chromosome and two or more X chromosomes (XXY, XXXY)||male with problems in sexual development and reduced levels of the male hormone testosterone|
Trisomy 21 (Down Syndrome) Karyotype. A karyotype is a picture of a cell’s chromosomes. Note the extra chromosome 21. Child with Down syndrome, exhibiting characteristic facial appearance.
A&E’s Born This Way:
You may wish to do a search on YouTube for Born This Way episodes.
Click the link below for an interactive karyotype activity:
Diagnosing Genetic Disorders
A genetic disorder that is caused by a mutation can be inherited. Therefore, people with a genetic disorder in their family may be concerned about having children with the disorder. Professionals known as genetic counselors can help them understand the risks of their children being affected. If they decide to have children, they may be advised to have prenatal (“before birth”) testing to see if the fetus has any genetic abnormalities. One method of prenatal testing is amniocentesis. In this procedure, a few fetal cells are extracted from the fluid surrounding the fetus, and the fetal chromosomes are examined.
KQED: Treating Genetic Disorders
The symptoms of genetic disorders can sometimes be treated, but cures for genetic disorders are still in the early stages of development. One potential cure that has already been used with some success is gene therapy. This involves inserting normal genes into cells with mutant genes. At the following link, you can watch the video Sickle Cell Anemia: Hope from Gene Therapy, to learn how scientists are trying to cure sickle-cell anemia with gene therapy.
If you could learn your risk of getting cancer or another genetic disease, would you? Though this is a personal decision, it is a possibility. A San Francisco company now makes it easy to order medical genetic tests through the Web. See Genetic Testing through the Web at
- A minority of human traits are controlled by single genes with two alleles. They have different inheritance patterns depending on whether they are controlled by autosomal or X-linked genes.
- Most human traits have complex modes of inheritance. They may be controlled by one gene with multiple alleles or by multiple genes. More complexity may be introduced by pleiotropy (one gene, multiple effect) and epistasis (gene-gene interactions).
- Many genetic disorders are caused by mutations in one or a few genes. Other genetic disorders are caused by abnormal numbers of chromosomes.
Lesson Review Questions
1. Describe the inheritance pattern for a single-gene autosomal dominant trait, such as free-hanging earlobes.
2. Give an example of a multiple allele trait and a polygenic trait.
3. Identify factors that influence human skin color.
4. Describe a genetic disorder caused by a mutation in a single gene.
5. What causes Down syndrome?
6. What is gene therapy?
7. Draw a pedigree for hitchhiker’s thumb. Your pedigree should cover at least two generations and include both dominant and recessive forms of the trait. Label the pedigree with genotypes, using the letter H to represent the dominant allele for the trait and the letter h to represent the recessive allele.
8. How might red-green color blindness affect the health of a person with this trait?
9. Compare and contrast dominance and epistasis.
10. Explain why genetic disorders caused by abnormal numbers of chromosomes most often involve the X chromosome.
Points to Consider
Technology has been developed to cure some genetic disorders with gene therapy. This involves inserting normal genes into cells with mutations. Scientists use genetic technology for other purposes as well.
- What other genetic problems might scientists try to solve with genetic technology? What about problems in agriculture?
- Why might scientists want to alter the genes of other organisms? How might this be done?
Previous: Human Chromosomes and Genes
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