Overview: Drawing from the Deck of Genes

¥                  What genetic principles account for the passing of traits from parents to offspring?

¥                  The ÒblendingÓ hypothesis is the idea that genetic material from the two parents blends together (like blue and yellow paint blend to make green)

¥                  The ÒparticulateÓ hypothesis is the idea that parents pass on discrete heritable units (genes)

¥                  This hypothesis can explain the reappearance of traits after several generations

¥                  Mendel documented a particulate mechanism through his experiments with garden peas


Concept 14.1: Mendel used the scientific approach to identify two laws of inheritance

¥                  Mendel discovered the basic principles of heredity by breeding garden peas in carefully planned experiments


MendelÕs Experimental, Quantitative Approach

¥                  Advantages of pea plants for genetic study

              There are many varieties with distinct heritable features, or characters (such as flower color); character variants (such as purple or white flowers) are called traits

              Mating can be controlled

              Each flower has sperm-producing organs (stamens) and an egg-producing organ (carpel)

              Cross-pollination (fertilization between different plants) involves dusting one plant with pollen from another

¥                  Mendel chose to track only those characters that occurred in two distinct alternative forms

¥                  He also used varieties that were true-breeding (plants that produce offspring of the same variety when they self-pollinate)

¥                  In a typical experiment, Mendel mated two contrasting, true-breeding varieties, a process called hybridization

¥                  The true-breeding parents are the P generation

¥                  The hybrid offspring of the P generation are called the F1 generation

¥                  When F1 individuals self-pollinate or cross- pollinate with other F1 hybrids, the F2 generation is produced


The Law of Segregation

¥                  When Mendel crossed contrasting, true-breeding white- and purple-flowered pea plants, all of the F1 hybrids were purple

¥                  When Mendel crossed the F1 hybrids, many of the F2 plants had purple flowers, but some had white

¥                  Mendel discovered a ratio of about three to one, purple to white flowers, in the F2 generation

¥                  Mendel reasoned that only the purple flower factor was affecting flower color in the F1 hybrids

¥                  Mendel called the purple flower color a dominant trait and the white flower color a recessive trait

¥                  The factor for white flowers was not diluted or destroyed because it reappeared in the F2 generation

¥                  Mendel observed the same pattern of inheritance in six other pea plant characters, each represented by two traits

¥                  What Mendel called a Òheritable factorÓ is what we now call a gene


MendelÕs Model

¥                  Mendel developed a hypothesis to explain the 3:1 inheritance pattern he observed in F2 offspring

¥                  Four related concepts make up this model

¥                  These concepts can be related to what we now know about genes and chromosomes


¥                  First: alternative versions of genes account for variations in inherited characters

¥                  For example, the gene for flower color in pea plants exists in two versions, one for purple flowers and the other for white flowers

¥                  These alternative versions of a gene are now called alleles

¥                  Each gene resides at a specific locus on a specific chromosome


¥                  Second: for each character, an organism inherits two alleles, one from each parent

¥                  Mendel made this deduction without knowing about the role of chromosomes

¥                  The two alleles at a particular locus may be identical, as in the true-breeding plants of MendelÕs P generation

¥                  Alternatively, the two alleles at a locus may differ, as in the F1 hybrids


¥                  Third: if the two alleles at a locus differ, then one (the dominant allele) determines the organismÕs appearance, and the other (the recessive allele) has no noticeable effect on appearance

¥                  In the flower-color example, the F1 plants had purple flowers because the allele for that trait is dominant


¥                  Fourth (now known as the law of segregation): the two alleles for a heritable character separate (segregate) during gamete formation and end up in different gametes

¥                  Thus, an egg or a sperm gets only one of the two alleles that are present in the organism

¥                  This segregation of alleles corresponds to the distribution of homologous chromosomes to different gametes in meiosis


¥                  MendelÕs segregation model accounts for the 3:1 ratio he observed in the F2 generation of his numerous crosses

¥                  The possible combinations of sperm and egg can be shown using a Punnett square, a diagram for predicting the results of a genetic cross between individuals of known genetic makeup

¥                  A capital letter represents a dominant allele, and a lowercase letter represents a recessive allele


Useful Genetic Vocabulary

¥                  An organism with two identical alleles for a character is said to be homozygous for the gene controlling that character

¥                  An organism that has two different alleles for a gene is said to be heterozygous for the gene controlling that character

¥                  Unlike homozygotes, heterozygotes are not true-breeding

¥                  Because of the different effects of dominant and recessive alleles, an organismÕs traits do not always reveal its genetic composition

¥                  Therefore, we distinguish between an organismÕs phenotype, or physical appearance, and its genotype, or genetic makeup

¥                  In the example of flower color in pea plants, PP and Pp plants have the same phenotype (purple) but different genotypes


The Testcross

¥                  How can we tell the genotype of an individual with the dominant phenotype?

¥                  Such an individual could be either homozygous dominant or heterozygous

¥                  The answer is to carry out a testcross: breeding the mystery individual with a homozygous recessive individual

¥                  If any offspring display the recessive phenotype, the mystery parent must be heterozygous


The Law of Independent Assortment

¥                  Mendel derived the law of segregation by following a single character

¥                  The F1 offspring produced in this cross were monohybrids, individuals that are heterozygous for one character

¥                  A cross between such heterozygotes is called a monohybrid cross


¥                  Mendel identified his second law of inheritance by following two characters at the same time

¥                  Crossing two true-breeding parents differing in two characters produces dihybrids in the F1 generation, heterozygous for both characters

¥                  A dihybrid cross, a cross between F1 dihybrids, can determine whether two characters are transmitted to offspring as a package or independently


¥                  Using a dihybrid cross, Mendel developed the law of independent assortment

¥                  The law of independent assortment states that each pair of alleles segregates independently of each other pair of alleles during gamete formation

¥                  Strictly speaking, this law applies only to genes on different, nonhomologous chromosomes or those far apart on the same chromosome

¥                  Genes located near each other on the same chromosome tend to be inherited together


Concept 14.2: The laws of probability govern Mendelian inheritance

¥                  MendelÕs laws of segregation and independent assortment reflect the rules of probability

¥                  When tossing a coin, the outcome of one toss has no impact on the outcome of the next toss

¥                  In the same way, the alleles of one gene segregate into gametes independently of another geneÕs alleles


The Multiplication and Addition Rules Applied to Monohybrid Crosses

¥                  The multiplication rule states that the probability that two or more independent events will occur together is the product of their individual probabilities

¥                  Probability in an F1 monohybrid cross can be determined using the multiplication rule

¥                  Segregation in a heterozygous plant is like flipping a coin: Each gamete has a 50% chance of carrying the dominant allele and a 50% chance of carrying the recessive allele


¥                  The addition rule states that the probability that any one of two or more exclusive events will occur is calculated by adding together their individual probabilities

¥                  The rule of addition can be used to figure out the probability that an F2 plant from a monohybrid cross will be heterozygous rather than homozygous


Solving Complex Genetics Problems with the Rules of Probability

¥                  We can apply the multiplication and addition rules to predict the outcome of crosses involving multiple characters

¥                  A dihybrid or other multicharacter cross is equivalent to two or more independent monohybrid crosses occurring simultaneously

¥                  In calculating the chances for various genotypes, each character is considered separately, and then the individual probabilities are multiplied


Concept 14.3: Inheritance patterns are often more complex than predicted by simple Mendelian genetics

¥                  The relationship between genotype and phenotype is rarely as simple as in the pea plant characters Mendel studied

¥                  Many heritable characters are not determined by only one gene with two alleles

¥                  However, the basic principles of segregation and independent assortment apply even to more complex patterns of inheritance


Extending Mendelian Genetics for a Single Gene

¥                  Inheritance of characters by a single gene may deviate from simple Mendelian patterns in the following situations:

              When alleles are not completely dominant or recessive

              When a gene has more than two alleles

              When a gene produces multiple phenotypes


Degrees of Dominance

¥                  Complete dominance occurs when phenotypes of the heterozygote and dominant homozygote are identical

¥                  In incomplete dominance, the phenotype of F1 hybrids is somewhere between the phenotypes of the two parental varieties

¥                  In codominance, two dominant alleles affect the phenotype in separate, distinguishable ways


¥                  A dominant allele does not subdue a recessive allele; alleles donÕt interact that way

¥                  Alleles are simply variations in a geneÕs nucleotide sequence

¥                  For any character, dominance/recessiveness relationships of alleles depend on the level at which we examine the phenotype


¥                  Tay-Sachs disease is fatal; a dysfunctional enzyme causes an accumulation of lipids in the brain

              At the organismal level, the allele is recessive

              At the biochemical level, the phenotype (i.e., the enzyme activity level) is incompletely dominant

              At the molecular level, the alleles are codominant


Frequency of Dominant Alleles

¥                  Dominant alleles are not necessarily more common in populations than recessive alleles

¥                  For example, one baby out of 400 in the United States is born with extra fingers or toes


¥                  The allele for this unusual trait is dominant to the allele for the more common trait of five digits per appendage

¥                  In this example, the recessive allele is far more prevalent than the populationÕs dominant allele


Multiple Alleles

¥                  Most genes exist in populations in more than two allelic forms

¥                  For example, the four phenotypes of the ABO blood group in humans are determined by three alleles for the enzyme (I) that attaches A or B carbohydrates to red blood cells: IA, IB, and i.

¥                  The enzyme encoded by the IA allele adds the A carbohydrate, whereas the enzyme encoded by the IB allele adds the B carbohydrate; the enzyme encoded by the i allele adds neither



¥                  Most genes have multiple phenotypic effects, a property called pleiotropy

¥                  For example, pleiotropic alleles are responsible for the multiple symptoms of certain hereditary diseases, such as cystic fibrosis and sickle-cell disease


Extending Mendelian Genetics for Two or More Genes

¥                  Some traits may be determined by two or more genes



¥                  In epistasis, a gene at one locus alters the phenotypic expression of a gene at a second locus

¥                  For example, in Labrador retrievers and many other mammals, coat color depends on two genes

¥                  One gene determines the pigment color (with alleles B for black and b for brown)

¥                  The other gene (with alleles C for color and c for no color) determines whether the pigment will be deposited in the hair


Polygenic Inheritance

¥                  Quantitative characters are those that vary in the population along a continuum

¥                  Quantitative variation usually indicates polygenic inheritance, an additive effect of two or more genes on a single phenotype

¥                  Skin color in humans is an example of polygenic inheritance


Nature and Nurture: The Environmental Impact on Phenotype

¥                  Another departure from Mendelian genetics arises when the phenotype for a character depends on environment as well as genotype

¥                  The norm of reaction is the phenotypic range of a genotype influenced by the environment

¥                  For example, hydrangea flowers of the same genotype range from blue-violet to pink, depending on soil acidity


¥                  Norms of reaction are generally broadest for polygenic characters

¥                  Such characters are called multifactorial because genetic and environmental factors collectively influence phenotype


Integrating a Mendelian View of Heredity and Variation

¥                  An organismÕs phenotype includes its physical appearance, internal anatomy, physiology, and behavior

¥                  An organismÕs phenotype reflects its overall genotype and unique environmental history


Concept 14.4: Many human traits follow Mendelian patterns of inheritance

¥                  Humans are not good subjects for genetic research

              Generation time is too long

              Parents produce relatively few offspring

              Breeding experiments are unacceptable

¥                  However, basic Mendelian genetics endures as the foundation of human genetics


Pedigree Analysis

¥                  A pedigree is a family tree that describes the interrelationships of parents and children across generations

¥                  Inheritance patterns of particular traits can be traced and described using pedigrees


¥                  Pedigrees can also be used to make predictions about future offspring

¥                  We can use the multiplication and addition rules to predict the probability of specific phenotypes


Recessively Inherited Disorders

¥                  Many genetic disorders are inherited in a recessive manner

¥                  These range from relatively mild to life-threatening


The Behavior of Recessive Alleles

¥                  Recessively inherited disorders show up only in individuals homozygous for the allele

¥                  Carriers are heterozygous individuals who carry the recessive allele but are phenotypically normal; most individuals with recessive disorders are born to carrier parents

¥                  Albinism is a recessive condition characterized by a lack of pigmentation in skin and hair


¥                  If a recessive allele that causes a disease is rare, then the chance of two carriers meeting and mating is low

¥                  Consanguineous matings (i.e., matings between close relatives) increase the chance of mating between two carriers of the same rare allele

¥                  Most societies and cultures have laws or taboos against marriages between close relatives


Cystic Fibrosis

¥                  Cystic fibrosis is the most common lethal genetic disease in the United States,striking one out of every 2,500 people of European descent

¥                  The cystic fibrosis allele results in defective or absent chloride transport channels in plasma membranes leading to a buildup of chloride ions outside the cell

¥                  Symptoms include mucus buildup in some internal organs and abnormal absorption of nutrients in the small intestine


Sickle-Cell Disease: A Genetic Disorder with Evolutionary Implications

¥                  Sickle-cell disease affects one out of 400 African-Americans

¥                  The disease is caused by the substitution of a single amino acid in the hemoglobin protein in red blood cells

¥                  In homozygous individuals, all hemoglobin is abnormal (sickle-cell)

¥                  Symptoms include physical weakness, pain, organ damage, and even paralysis


¥                  Heterozygotes (said to have sickle-cell trait) are usually healthy but may suffer some symptoms

¥                  About one out of ten African Americans has sickle cell trait, an unusually high frequency of an allele with detrimental effects in homozygotes

¥                  Heterozygotes are less susceptible to the malaria parasite, so there is an advantage to being heterozygous


Dominantly Inherited Disorders

¥                  Some human disorders are caused by dominant alleles

¥                  Dominant alleles that cause a lethal disease are rare and arise by mutation

¥                  Achondroplasia is a form of dwarfism caused by a rare dominant allele


HuntingtonÕs Disease: A Late-Onset Lethal Disease

¥                  The timing of onset of a disease significantly affects its inheritance

¥                  HuntingtonÕs disease is a degenerative disease of the nervous system

¥                  The disease has no obvious phenotypic effects until the individual is about 35 to 40 years of age

¥                  Once the deterioration of the nervous system begins the condition is irreversible and fatal


Multifactorial Disorders

¥                  Many diseases, such as heart disease, diabetes, alcoholism, mental illnesses, and cancer have both genetic and environmental components

¥                  Little is understood about the genetic contribution to most multifactorial diseases


Genetic Testing and Counseling

¥                  Genetic counselors can provide information to prospective parents concerned about a family history for a specific disease


Counseling Based on Mendelian Genetics and Probability Rules

¥                  Using family histories, genetic counselors help couples determine the odds that their children will have genetic disorders

¥                  Probabilities are predicted on the most accurate information at the time; predicted probabilities may change as new information is available


Tests for Identifying Carriers

¥                  For a growing number of diseases, tests are available that identify carriers and help define the odds more accurately


Fetal Testing

¥                  In amniocentesis, the liquid that bathes the fetus is removed and tested

¥                  In chorionic villus sampling (CVS), a sample of the placenta is removed and tested

¥                  Other techniques, such as ultrasound and fetoscopy, allow fetal health to be assessed visually in utero


Newborn Screening

¥                  Some genetic disorders can be detected at birth by simple tests that are now routinely performed in most hospitals in the United States