Autosomal: the gene responsible for the phenotype is located on one of the 22 pairs of autosomes (non-sex determining

chromosomes). X-linked: the gene that encodes for the trait is located on the X chromosome. Dominant: conditions that are manifest in heterozygotes (individuals with just one copy of the mutant allele). Recessive: conditions are only manifest in individuals who have two copies of the mutant allele (are homozygous).

Autosomal Dominant
Dominant conditions are expressed in individuals who have just one copy of the mutant allele. The pedigree on the right illustrates the transmission of an autosomal dominant trait. Affected males and females have an equal probability of passing on the trait to offspring. Affected individual's have one Autosomal Dominant normal copy of the gene and one mutant copy of the gene, thus Conditions: each offspring has a 50% chance on inheriting the mutant ‡ Huntington Disease allele. As shown in this pedigree, approximately half of the ‡ acondroplasia (short-limbed dwarfism) children of affected parents inherit the condition and half do ‡ polycystic kidney disease not.

Autosomal Recessive
Recessive conditions are clinically manifest only when an individual has two copies of the mutant allele. When just one copy of the mutant allele is present, an individual is a carrier of the mutation, but does not develop the condition. Females and males are affected equally by traits transmitted by autosomal recessive inheritance. When two carriers mate, each child has a 25% chance of being homozygous wild-type (unaffected); a 25% chance of being homozygous mutant (affected); or a 50% chance of being heterozygous (unaffected carrier).

Affected individuals are indicated by solid black symbols and unaffected carriers are indicated by the half black symbols. Autosomal recessive diseases: ‡ Cystic fibrosis ‡ Tay-Sachs ‡ hemochromatosis ‡ phenylketonuria (PKU)

X-linked Recessive
X-linked recessive traits are not clinically manifest when there is a normal copy of the gene. All X-linked recessive traits are fully evident in males because they only have one copy of the X chromosome, thus do not have a normal copy of the gene to compensate for the mutant copy. For that same reason, X-linked Recessive Disorders: ‡ Duchenne muscular women are rarely affected by X-linked recessive diseases, dystrophy however they are affected when they have two copies of the
‡ hemophilia A

X-linked Dominant Disorders ‡ some forms of retinitis pigmentosa ‡ Chondrodysplasia Punctata ‡ hypophosphatemic rickets Whats the difference between autosomal and sex linked traits? Autosomal traits are inherited via genes that do NOT determine an individual's sex. or one X may be dominant while the other is recessive (heterozygous. The laws were derived by the Austrian monk Gregor Mendel (1822±1884) based on experiments he conducted in the period from about 1857 to 1865. ‡ X-linked severe combined immune disorder (SCID) ‡ some forms of congenital deafness X-linked Dominant Because the gene is located on the X chromosome.the dominant trait would be physically represendted). Because the gene is on the X chromosome there is no father to son transmission. freckles/no freckles. widows peak/continuous hairline. Two examples of sex-linked traits are Colorblindness and Hemophilia. As a simple example of this kind of experiment.mutant allele. both Xs may be recessive (homozygous recessesive). and the length of plant stems. This means that both Xs may be dominant (homozygous dominant). are inherited via genes that DO determine and individual's sex (X and Y chromosomes). Sex-linked traits. because sex-linked traits are carried on the X chromosome and NOT the Y chromosome. Among the traits that Mendel studied were the color of a plant's flowers. but there is father to daughter and mother to daughter and son transmission. What Mendel wanted to know is what color the flowers would be in the offspring of these two plants. For his experiments. etc.) Autosomal traits are passed on from parents to offspring independent of gender. males (XY (hemizygous)) have a 50% chance of being either recessesive or dominant for the trait . the shape and color of seeds. females however have more possible outcomes in terms of dominant/recessive traits because of their two X chromosomes (XX). the shape and color of pea pods. their location on the plant. With sex-linked traits. whereas. there is no transmission from father to son. Mendel . If a man is affected with an X-linked recessive condition. X-linked dominant disorders are clinically manifest when only one copy of the mutant allele is present. Some examples of autosomal traits are ability/inabilitiy to roll toungue. In a second series of experiments. suppose that one takes pollen from a pea plant with red flowers and uses it to fertilize a pea plant with white flowers. all his daughter will inherit one copy of the mutant allele from him. Mendel's approach was to transfer pollen (which contains male sex cells) from the stamen (the male reproductive organ) of one pea plant to the pistil (female reproductive organ) of a second pea plant. however. Mendel used ordinary pea plants. but there can be transmission from father to daughter (all daughters of an affected male will be affected since the father has only one X chromosome to transmit). (The use of Punnett squares is the best way to help visualize this difference. Children of an affected woman have a 50% chance of inheriting the X chromosome with the mutant allele. Mendelian laws of inheritance are statements about the way certain characteristics are transmitted from one generation to another in an organism.

called the alleles (pronounced uhLEELZ) of that gene. but by biologists some years after his research was originally published. called gametes. a plant with red flowers must carry a gene for that characteristic. the gene for color in pea plants can occur in the form (allele) for a white flower or in the form (allele) for a red color. Mendel was able to state three generalizations about the way characteristics are transmitted from one generation to the next in pea plants. What color will the flowers be in this second generation of plants? As a result of these experiments. A gene for any given characteristic may occur in one of two forms.studied the changes that occurred in the second generation. Words to Know Allele: One of two or more forms a gene may take. Gamete: A reproductive cell. Dominant: An allele whose expression overpowers the effect of a second form of the same gene. Heterozygous: A condition in which two alleles for a given gene are different from each other. A zygote contains genetic information from both parents. The first step that takes place in reproduction is for the sex cells in plants to divide into two halves. Recessive: An allele whose effects are concealed in offspring by the dominant allele in the pair. Most of these terms were invented not by Mendel. For example. Homozygous: A condition in which two alleles for a given gene are the same. The plant that develops from that zygote would said to be heterozygous for that trait since its gene for flower color . Terminology Before reviewing these three laws. For example. it will be helpful to define some of the terms used in talking about Mendel's laws of inheritance. The next step is for the gametes from the male plant to combine with the gametes of the female plant to produce a fertilized egg. For example. suppose two offspring of the red/white mating ("cross") are themselves mated. a zygote might contain one allele for white flowers and one allele for red flowers. Genes are the units in which characteristics are passed from one generation to the next. That fertilized egg is called a zygote. That is.

as in Rr. a second gene determines length of stem. That law refers to the fact that any plant contains many different kinds of genes.) Mendel's laws Mendel's law of segregation describes what happens to the alleles that make up a gene during formation of gametes. . it is said to be homozygous. One way to represent that condition is to write RR. Mendel discovered that the way in which alleles from different genes separate and then recombine is unconnected to other genes. or segregate. suppose that a pea plant contains a gene for flower color in which both alleles code for red. white. That is. Another gene might have a different combination of alleles. in this case. a third gene determines shape of pea pods. during the formation of gametes. Mendel's law of segregation says that the alleles that make up a gene separate from each other. In this case. which indicates that both alleles (R and R) code for the color red. If the zygote contains a gene with two identical alleles. Mendel's Law of Segregation. One gene determines flower color. For example. the symbol R stands for red color and the r for "not red" or. (Reproduced by permission of The Gale Group .has two different alleles. such as: RR R + R or Rr R+r Mendel's second law is called the law of independent assortment. and so on. That fact can be represented by simple equations.

However. However. the results are different from those in the first generation. for example. In this case. . as: RR R + R and TT T+T Mendel's third law deals with the matter of dominance. the alleles of each plant separate from each other: Rr R+r Rr. The possible results of these combinations are two Rr combinations. The picture on page 1248. Predicting traits The application of Mendel's three laws makes it possible to predict the characteristics of offspring produced by parents of known genetic composition. Biologists have discovered that Mendel's laws are simplifications of processes that are sometimes much more complex than the examples given here.suppose that a plant contains genes for color (RR) and for shape of pod (TT). In the example of an Rr gene. the flowers produced will be red because the allele R is dominant over the allele r. and one rr combination. one is more likely to be expressed than the other. In other words. Suppose that a gene contains an allele for red color (R) and an allele for white color (r). all four combinations produce the same result: R + r an allele for red (R) and an allele for "not red" (r). Then Mendel's second law says that the two genes will segregate independently. shows the cross between a sweet pea plant with red flowers (RR) and one with white flowers (rr). three of the four combinations will produce plants with red flowers and one (the rr option) will product plants with non-red (white) flowers. The drawing at the right in the picture on page 1248 shows what happens when two plants from the first generation are crossed with each other. the gene formed will consist of Again. Again. the alleles can recombine in four ways. one RR combination. one allele is dominant and the other allele is recessive. four ways in which those alleles can recombine. Notice that the genes from the two parents will segregate to produce the corresponding alleles: RR R + R and rr r+r There are. What will be the color of the flowers produced on this plant? Mendel's answer was that in every pair of alleles. In every case. however. as shown in the same picture. then. those laws still form an important foundation for the science of genetics. Since R is dominant over r.

snapdragons. The sizes of all of these body parts are. in primroses. red or white flowers are homozygous while pink ones are heterozygous. The combined size of all of the body parts from head to foot determines the height of an individual. our knowledge of the mechanisms of genetic inheritance has grown immensely. There is an additive effect. or continuous. there are degrees of dominance and recessiveness with some traits. increase the chance of inheriting another or can affect how and when a trait is expressed in an individual's phenotype. For instance.Exceptions to Simple Inheritance Since Mendel's time. NOTE: whether an individual achieves his or her genetically programmed height is significantly affected by human growth hormones (HGH) produced in the pituitary gland. Too much of them can cause excessive growth resulting in exceptional height. These are referred to as polygenic . Intermediate Expression Apparent blending can occur in the phenotype when there is incomplete dominance resulting in an intermediate expression of a trait in heterozygous individuals. hair. The pink flowers result because the . For instance. Polygenic Traits Some traits are determined by the combined effect of more than one pair of genes. determined by numerous genes. about 10% of an individual's height is due to the environment. Human skin. They are said to have non-Mendelian inheritance patterns. The simple rules of Mendelian inheritance do not apply in these and other exceptions. The result is the perception of continuous gradation in the expression of these traits. Usually. and four-o'clocks. traits. in turn. An example of this is human stature. Differences in diet and other environmental factors during the crucial growth years can also be important in determining stature and other complex traits. at times. it is now understood that inheriting one allele can. Likewise. and eye color are also polygenic traits because they are influenced by more than one allele at different loci. A deficiency in the amount of these hormones during childhood and puberty can result in stunted growth.

he probably would not have discovered the basic rules of genetic inheritance. it is due to a multiple-allele series. An example of this is people who have an AB blood type for the ABO blood system. the pea plant traits that he studied were controlled by genes that do not exhibit an intermediate expression in the phenotype. In other words. both are expressed in heterozygous individuals. The lowest and highest pitches apparently are found in men who are homozygous for this trait (AA and aa). while the intermediate range baritones are heterozygous (Aa). Their phenotype is not intermediate between the two. two alleles can be codominant.single "red" allele is unable to code for the production of enough red pigment to make the petals dark red. Another example of an intermediate expression may be the pitch of human male voices. Otherwise. these individuals actually have the characteristics of both type A and type B blood. Heterozygous individuals are genetically programmed to produce only 40-60% of the normal amount of an enzyme that prevents the disease. Codominance For some traits. In this . Type AB blood testing as both A and B Multiple-allele Series The ABO blood type system is also an example of a trait that is controlled by more than just a single pair of alleles. Fortunately for Mendel. The child-killer disease known as Tay-Sachs is also characterized by incomplete dominance. That is to say. When they are tested.

cataracts also can be promoted by diabetes and common environmental factors such as excessive ultraviolet radiation. B. legs. and alcoholism. and O). homeobox . the human HLA system. However. For instance. there are three alleles (A. etc. For instance. Regulator genes can either initiate or block the expression of other genes. but each individual only inherits two of them (one from each parent). the time of production of specific proteins that will be new structural parts of our bodies can be controlled by such regulator genes. regulator genes work as master switches orchestrating the timely development of our body parts. Modifying genes alter how certain other genes are expressed in the phenotype. In other words. arms. it now appears that they are more common than simple two allele ones. For instance.000 different genotypes. Modifying and Regulator Genes There are two classes of genes that can have an effect on how other genes function. They are called modifying genes and regulator genes. Nearly half of all people in North America over 65 years of age eventually develop them. It is the HLA system which causes the rejection of organ transplants. In fact.case. they control the maturation and aging processes. They are responsible for setting generalized cells on the path to become a head.000. They are also responsible for changes that occur in our bodies as we grow older. or Hox genes. there is a dominant cataract gene which will produce varying degrees of vision impairment depending on the presence of a specific allele for a companion modifying gene. can have at least 30. Gene Control--video clip from Teachers' Domain View in: QuickTime or Windows Media Player . Some traits are controlled by far more alleles. Regulator genes that are involved in subdividing an embryo into what will become the major body parts of an individual are also referred to as homeotic . They control the production of a variety of chemicals in plants and animals. Shortly after conception. which is responsible for identifying and rejecting foreign tissue in our bodies. The more we learn about human genetics the more it becomes clear that multiple-allele series are very common. torso.

Recent research by Catherine Dulac of Harvard University points to genetic imprinting as being an important factor in causing male and female brains to develop somewhat differently. The heavy male beard is an example. Similarly. An example of this is gout . can follow this inheritance pattern. the genes that cause the chronic autoimmune disease. genome imprinting Sex-limited genes are ones that are inherited by both men and women but are normally only expressed in the phenotype of one of them. men are nearly eight times more likely than women to have severe symptoms. These are referred to as: 1. or do not get enough sleep on a regular basis. For example. sex-controlled genes 3. Apparently. sex-controlled genes are expressed in both sexes but differently. Some genes are known to have a different effect depending on the gender of the parent from whom they are inherited. sex-limited genes 2. This phenomenon is referred to as genome or genetic imprinting. She . persistently stressed psychologically. multiple sclerosis . such as a form of mental retardation known as Angelman syndrome . may be triggered by the Epstein-Barr virus and possibly other specific environmental stresses. While women have facial hair it is most often very fine and comparatively sparse. and some imprinting rare genetically inherited diseases. Subsequently. That is to say. a disease that causes painfully inflamed joints. their effect does not normally occur unless certain environmental factors are present. Sex Related Genetic effects There are three categories of genes that may have different effects depending on an individual's gender. psoriasis . New research suggests that abundant exposure to the sun in childhood can provide some protection from developing MS. If the gene is present. people who grow up in tropical and subtropical regions of the world have significantly lower rates of MS as adults. you may inherit the genes that are responsible for type 2 diabetes but never get the disease unless you become greatly overweight. diabetes . In contrast.(length = 2 mins 58 secs) Incomplete Penetrance Some genes are incompletely penetrant.

The specific environmental characteristics of the uterus in which a fertilized egg is implanted and the health of the mother can have major impacts on the phenotype of the future child. Pleiotropy A single gene may be responsible for a variety of traits. A single gene results in irregularly shaped red blood cells that painfully block blood vessels. kidney. and is albinism eye pigmentation but also causes defects in vision. Unstable alleles are an important exception to this rule. lung. and eye problems. fragile-X syndrome. it is now known that some genetically inherited diseases have more severe symptoms each succeeding generation due to segments of the defective genes being doubled in their transmission to children (as illustrated below). Environmental Influences The phenotype of an individual is not only the result of inheriting a particular set of parental genes. and the myotonic form of muscular dystrophy . For instance. Examples of this phenomenon areHuntington's disease. is an example. hair. or sickle-cell anemia. The gene for this trait not only results in a deficiency of skin. These are referred to as stuttering alleles or unstable alleles. poor . accidents. cause poor overall physical development. devastating effects. Stuttering Alleles Lastly. Another pleiotropic trait . Likewise. as well as related heart. This is called pleiotropy . The complex of symptoms that are collectively referred to as sickle-cell trait . Unstable allele doubling each generation Mendel believed that all units of inheritance are passed on to offspring unchanged. oxygen deprivation or inappropriate hormone levels can cause lifelong.suggests that this is due to the fact that some of the genes inherited from the opposite sex parent are likely to be turned off following conception.

nutrition. and other environmental influences throughout life can alter an individual's phenotype. relatively common. Since monozygotic twins come from the same zygote. they are essentially identical in their genetic makeup. However. As we learn more about the inheritance patterns for these traits. Geneticists study identical or monozygotic twins to determine which traits are inherited and which ones were acquired following conception. Summary Researchers have identified more than 5. Mendel's Genetics For thousands of years farmers and herders have been selectively breeding their plants and animals to produce . one monozygotic twin will be clearly right-handed while the other will be left-handed. in fact. it is important to keep in mind that there are at least 18.000 human traits controlled by genes that follow the basic Mendelian rules of inheritance. This suggests that there may be both genetic and environmental influences in the development of this trait. It was somewhat of a hit or more useful hybrids miss process since the actual mechanisms governing inheritance were unknown. It would not be surprising if other "exceptions" were discovered in the future. In rare instances. If there are any differences in their phenotypes. Such differences show up in basic capabilities such as handedness.000 genetically inherited human diseases and abnormalities. Hybridized domesticated horses . the environment is virtually always responsible. Knowledge of these genetic mechanisms finally came as a result of careful laboratory breeding experiments carried out over the last century and a half. it is becoming clear that at least some of the twelve exceptions to the simple Mendelian rules of inheritance described here are. which had been assumed to be entirely genetically determined.

His ideas had been published in 1866 but largely went unrecognized until 1900. pod shape is inflated or constricted 7. but Gregor Mendel . In his later years. they can either selfpollinate themselves or cross-pollinate with another plant. the pea flowers are either purple or white--intermediate colors do not appear in the offspring of cross-pollinated pea plants. 2. This was essentially a variation of Lamarck's incorrect idea of the "inheritance of acquired characteristics.By the 1890's. Mendel ." Charles Darwin proposed another equally wrong theory known as "pangenesis" . was the only one who got it more or less right. These modified particles were thought to migrate via blood to the reproductive cells and subsequently could be inherited by the next generation. For instance. 4. Mendel observed seven traits that are easily recognized and apparently only occur in one of two forms: 1. This held that hereditary "particles" in our bodies are affected by the things we do during our lifetime. he became the abbot of his monastery and put aside his scientific work. The focus of genetics research then shifted to understanding what really happens in the transmission of hereditary traits from parents to children. A number of hypotheses were suggested to explain heredity. Through the selective cross-breeding of common pea plants Common edible peas (Pisum sativum) over many generations. pod color is yellow or green This observation that these traits do not show up in offspring plants with intermediate forms was critically important because the leading theory in biology at the time was that inherited traits blend from generation to generation. In his experiments. flower color is purple or white flower position is axil or terminal stem length is long or short seed shape is round or wrinkled 5. Pea plants have both male and female reproductive organs. the invention of better microscopes allowed biologists to discover the basic facts of cell division and sexual reproduction. which was long after his death. the basic underlying principles of heredity that he discovered also apply to people and other animals because the mechanisms of heredity are essentially the same for all complex life forms." Mendel picked common garden pea plants for the focus of his research because they can be grown easily in large numbers and their reproduction can be manipulated. His early adult life was spent in relative obscurity doing basic genetics research and Gregor Mendel teaching high school mathematics. a little known Central European monk. physics. As a result. 3. and Greek in Brno (now 1822-1884 in the Czech Republic). While Mendel's research was with plants. seed color is yellow or green 6. Most of the leading scientists in the 19th century accepted this "blending theory. Mendel discovered that certain traits show up in offspring without any blending of parent characteristics.

was able to selectively cross-pollinate purebred plants with particular traits and observe the outcome over many generations. Reproductive structures of flowers In cross-pollinating plants that either produce yellow or green pea seeds exclusively. the following generation (f2) consistently has a 3:1 ratio of yellow to green. However. Mendel found that the first offspring generation (f1) always has yellow seeds. He came to three important conclusions from these experimental results: . This was the basis for his conclusions about the nature of genetic inheritance. This 3:1 ratio occurs in later generations as well. Mendel realized that this was the key to understanding the basic mechanisms of inheritance.

When the f1 plants breed. when the genotype for pea seed color is YG (heterozygous). the dominant yellow allele does not alter the recessive green one in any way. or observable physical characteristics. one form appeared dominant over the other. the phenotype is yellow. the starting parent plants were homozygous for pea seed color. thephenotype Note that each of the f1 generation plants (shown above) inherited a Y allele from one parent and a G allele from the other. the principle of independent assortment According to the principle of segregation. We now know . In other words. of the pea plants instead of only . However. that an individual inherits one such unit from each parent for each trait 3. for any particular trait. they each had inherited two different alleles--one from each parent plant. It is important to realize that. the pair of alleles of each parent separate and only one allele passes from each parent on to an offspring.1. That is to say. each has an equal chance of passing on either Y or G alleles to each offspring. With all of the seven pea plant traits that Mendel examined. that a trait may not show up in an individual but can still be passed on to the next generation. For example. the principle of segregation 2. The plants in the f1 generation were all heterozygous . that the inheritance of each trait is determined by "units" or "factors" that are passed on to descendents unchanged ) (these units are now called genes 2. in this experiment. Both alleles can be passed on to the next generation unchanged. or genotype . which is to say it masked the presence of the other allele. they each had two identical forms (oralleles ) of the gene for this trait--2 yellows or 2 greens. Which allele in a parent's pair of alleles is inherited is a matter of chance. It becomes clearer when we look at the actual genetic makeup. Mendel's observations from these experiments can be summarized in two principles: 1.

Likewise. along with the understanding of unit inheritance and dominance. Segregation of alleles in the production of sex cells According to the principle of independent assortment. were the beginnings of our modern science of genetics. we know this is due to the fact that the genes for independently . The result is that new combinations of genes present in neither parent are possible. Mendel did not realize that there are exceptions to these rules. Today.e. However.. By focusing on Mendel as the father of genetics. Mendel rarely gets credit for this because his work remained essentially unknown until long after Lamarck's ideas were widely rejected as being improbable. modern biology often forgets that his experimental results also disproved Lamarck's theory of the inheritance of acquired characteristics described in the Early Theories of Evolution tutorial. a pea plant's inheritance of the ability to produce purple flowers instead of white ones does not make it more likely that it will also inherit the ability to produce yellow pea seeds in contrast to green ones. For example. Some of these exceptions will be explored in the third section of this tutorial and in the Synthetic Theory of Evolution tutorial. assorted traits are located on different chromosomes These two principles of inheritance. different pairs of alleles are passed to offspring independently of each other. .that this segregation of alleles occurs during the process of sex cell formation (i. the principle of independent assortment explains why the human inheritance of a particular eye color does not increase or decrease the likelihood of having 6 fingers on each hand. meiosis ).

The presence of differences between living things of the same species is called variation. Variation between different species is always greater than the variation within a species. They belong to the same species. . Some will be boys and some will be girls. Some will be tall and some will be shorter.What is variation? All people are human. Your friends and classmates may have different eye colour and hair colour.