Genes and Alleles Genes contain information about a specific characteristic or trait and can either be dominant or recessive

. Genes are found on chromosomes and each gene has a designated place on every chromosome, called a locus. Not all copies of a gene are identical and alternative forms of a gene, called alleles, lead to the alternative form of a trait. Alleles are a way of identifying the two members of a gene pair which produce opposite contrasting phenotypes. An allele of a gene is it's partner gene, for example b is an allele of B and vice versa. When the alleles are identical, the individual is homozygous for that trait. While if the pair is made of two different alleles, the individual is heterozygous. A homozygous pair of can be either dominant (AA, BB) or recessive (aa, bb). Heterozygous pairs are made up of one dominant and one recessive allele (Aa, Bb). In heterozygous individuals only one allele, the dominant, gains expression while the other allele, the recessive, is hidden but still present. Capital letters represent dominant genes and lower case letters, recessive genes. The word genotype is was created to identify genes of an individual and phenotype for the expression of the trait and genes. Phenotype and genotype are terms used to describe the difference between the visible expression of the trait vs. the actual gene makeup. An individual which expresses a dominant trait may carry a recessive allele, but the recessive expression is hidden by it's dominant partner. In Mendel's garden pea experiment, he also crossed plants that had two different pairs of alleles. He made a dihybrid cross of round, yellow seeds vs. wrinkled green seeds. The genes for round and yellow are dominant over their alleles of wrinkled and green. In the F1 generation all seeds were round and yellow as expected. Out of 556 plants in the F2 generation, 315 were round and yellow, 108 were round and green, 101 were wrinkled and yellow and 35 were wrinkled and green. When brought down to its lowest terms, it comes to a ratio of nearly 9:3:3:1. Mendel observed that the results were the same as the product of two monohybrid crosses. This lead to the law of probability which states that "the chance of two or more independent events occurring together is the product of the chances of their separate occurrences." For example, crosses between parents that differ in three traits, called trihybrid crosses, are a combination of three monohybrid crosses together. Mendel also noticed that the pairs of alleles separated and behaved independently with respect to the other pair. Mendel then wrote the law of independent assortment which observes that independent combinations of different pairs of alleles may occur. Mendel believed that a single gene was responsible for one single trait all by itself. We now know that many genes have control over the production of traits. Individuals inherit genes from their parents, not traits. Another important fact is that genes behave as separate units and traits are the product of complex gene interaction. Recessive Genes Recessive genes can only be expressed in homozygous (aa) individuals. There are more heterozygous (Aa) carriers than homozygous (aa) carriers who actually express the trait. All three genotypes (AA, aa, Aa) are possible throughout any population. Even in carriers that are not phenotypically expressed (Aa), the recessive allele can be identified in a cross. The three criteria for identifying recessive genes:

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The first appearance of the recessive trait within a family usually is in the children of the unaffected parents. 25% of the children will be express trait. Both males and females can express the trait unless it is a recessive sex linked gene.

Dominant Genes If a gene (A) is completely dominant, AA and Aa are phenotypically alike. Phenotypes specified by single gene substitutions are called dominants and those that require homozygous combinations for expression are called recessives. Dominants are easier to find than recessives, for dominants are fully expressed when paired with either allele. The individual's genotype may be homozygous or heterozygous if they express a dominant trait. In dominant the trait will be expressed in all generations. The 4 criteria for identifying dominant genes:

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If the trait if dominant, it will be expressed in all generations. The trait is passed from the affected parent to about 50% of his/her children. Any parent that does not express the trait does not transmit it to any of his/her children. Both males and females can express and transmit the trait.

Incomplete Dominance Alleles are not always recessive or dominant, but have a range of dominance. In simple or complete dominance the heterozygote, even though genetically different, has the exact same phenotype as one of the homozygotes. This leads to the conclusion that Aa is equal to AA, phenotypically speaking. The recessive gene is present in the heterozygote but hidden by the dominant. Dominance is then considered a physiological effect.

red. IBIB or IBi. A. If the recessive allele i is paired with IB or IA. one late and surprisingly two flowered somewhere in the middle. When both alleles for pigment are present the petals have a dark red color due to the heavy production of pigment. Even though the genotype ratio remains the same. On the other hand if none of the alleles for pigment exist. Incomplete dominance causes a distortion of the normal phenotypic ratio. examples of partial of incomplete dominance have been discovered in animals and plants. the recessive of the three. both proteins A and B are present and expressed. An excellent example of incomplete dominance are snapdragon flowers. Alleles are located in corresponding parts of . Codominance is clearly different than incomplete dominance. but this proves to be untrue when you cross two plants from the F1 generation. For one to fully understand the possibility of pink flowers. It is common knowledge that a blood transfusion can only take place between two people who have compatible types of blood. There are four possible blood types in order from most common to most rare: O. When one crosses a red flowered snapdragon with a white flowered. and IA and IB are both codominant when paired together. This is a definite exception to the 3:1 ratio that is observed with all examples of complete dominance. with a ratio of 1:2:1. Blood type O is not apparent if the individual has an allele for A or B. When the IB and IA are together in a pair. But in other plants the flower color is not necessarily one color or the other. Human blood is separated into different classifications because of the varying proteins contained in each blood type's red blood cells. The O blood type represents an individual who is homozygous recessive (ii) and does not have an allele for A or B. It appears that the red and white colors were mixed together two create a pink pigment. The first allele is. i. it is the phenotype ratio of 3:1 dominant-recessive that changes to 1:2:1. When both substances appear together in heterozygotes. The two alleles of a pair at a specific locus are not identical but the expression of both is observed. In incomplete dominance the heterozygote shows a phenotype which in between the homozygous recessive and homozygous dominant phenotypes. the flower is then white. creating a pink shade. all of the F1 generation have pink heterozygous flowers. Snapdragon Crosses Each allele is a code for a specific amount of pigment. B and AB. codominance occurs. Codominance and Blood Types Two alleles in a gene pair are each associated with different substances. The F2 generation have all three colors. it's expression is hidden and is not shown. The protein's structure is controlled by three alleles. The absence of complete dominance makes every genotype different. except flowering time. The ABO system is called a multiple allele system for there are more than two possible allele pairs for the locus. The individual's blood type is determined by which combination of alleles he/she has. These proteins are there to identify whether or not the blood in the individual's body is it's own and not something the immunity system should destroy. If the heterozygous phenotype (Rr) coincides with the phenotype of one of the homozygotes phenotypic effect of the heterozygote (rr) can then be termed incomplete dominance. but an individual who is IAIB has blood type AB. Individuals who have blood type A have a genotype of IAIA or IAi and those with blood type B. i. pink and white. An example of codominance is the ABO blood typing system used to determine the type of human blood. remember that the gene for flower color controls the amount of pigment in the flower petals. only half the pigment is produced. When one of the alleles is present. Ever since the time of Mendel. IA and IB.In Mendel's experiments all the chosen genes showed complete dominance. Blood types A and B are codominant alleles. Blood Type Chart Parent 1 Type O (i i) Type A (IA) Type B (IB) Type A (IA) Type B (IB) Type A (IA) Parent 2 Type O Type A (IA) Type B (IB) Type O (i i) Type O (i i) Type B (IB) Child Type O (i i) Type A (IAIA) Type B (IBIB) Type A (IAi) Type B (IBi) Type AB (IAIB) Multiple Alleles The source of new alleles was recognized as a gene change or a mutation. The recessive allele i for blood type O is only expressed when two recessive alleles are present. meaning that the plant may express a color between the two. One of his plants flowered early. Codominant alleles are expressed even if only one is present. The examples of dominance in the garden peas were flower color and seed shape.

The most famous example of multiple alleles was discovered in rabbits. Many examples were found where more than two alternative alleles. are present. but some produce very different phenotypes. while the F2 generation had three colored and one albino. This showed that one pair of alleles was involved. either c or c+. A diploid organism has. and you will grasp them more surely. it was discovered that the members of a pair of alternative genes. M b means megabase and cM means centimorgan) � Most genes generate traits (phenotype) via their coding for the synthesis of proteins [gene (Google Search)] [index] (d) (e) (3) Genotype (a) (b) (c) The sequence of nucleotides on chromosomes represents genotype Genotype is subdivided into discrete. After conducting a monohybrid cross between a colored and Albino rabbit. by its definition. problems which illustrate the various patterns of inheritance�� (Keeton. W.W. Norton & Company. each kind of allele affecting a trait differently than the other. The different alleles of a series are usually represented by the same symbol. heritable units called genes Genotype is what is passed from parent to offspring on chromosomes . . It was known that Albino rabbits were produced on occasion in variously colored rabbit populations. also called multiple alleles. Most alleles produce variations of the same trait. Alleles are genes that are members of the same gene pair. 621) [Mendel and the gene idea (Google Search)] [Genetic Science Learning Center] [Genetics (a journal) (The Genetics Society of America)] [Three neglected advances in classical genetics] [index] (b) (2) Gene [genotype] (a) (b) (c) A gene is a discrete heritable unit Genes are found at specific loci on chromosomes (loci mapped to human chromsome number 3 are shown to the right. Genotype cde/cde CDe/cde CDe/CDe cDE/cde CDe/cDE cDE/cDE Rhesus genotypes symbol rr R1 r R1R1 R2 r R1R2 R2R2 Rh(D) status Negative Positive Positive Positive Positive Positive (1) Chapter title: Mendel and the Gene Idea (a) �The best way to gain an understanding of genetics is to work with it. It was determined that c+ was dominant over c. In these cases two or more different mutations must have taken place at the same locus but in different individuals or at different times. the wild c+ and the mutant allele c. p. yet exceptions to the rules do appear. . if you carefully think through . A cross of homozygous colored (c+ c+) and albino (c c) rabbits was made and the F1 generation were all colored. only two alleles at one time. Subscripts and superscripts are used to identify different members of a series of alleles. only one member of a pair can be present in a given chromosome and only two are present in a cell of a diploid. must be responsible for colored or albino rabbits. 1980. The fundamental principles discussed (below) will become clear to you.homologous chromosomes. Biological Science third edition. Multiple alleles are alternative states at the same locus.

The results of Mendel�s F1 crosses for seven characteristics in pea plants [genetic character (Google Search)] [index] . etc. color. height. we have genes that are responsible for a given character A character is a heritable feature (phenotype) of an individual A character can vary For example. that differ in nucleotide sequence.3.e.5. ability to smell. etc. hair color is a character as is ear size.(4) Phenotype (a) (b) (c) (d) (e) (f) Phenotype is specified by genotype Phenotype is the stuff that you can see and measure about an organism For example.. Genotype versus phenotype (g) (5) Allele [genotype] (a) (b) (c) The genes found at a given locus may differ between homologous chromosomes Often the differences represent only one or a few nucleotides Two genes that are found at the same locus of a homologous pair of chromosomes. these forms are considered to be separate (i. alternative versions of a gene (d) (e) (f) (g) (6) Character [phenotype] (a) (b) (c) (d) (e) (7) Trait [phenotype] (a) (b) A variant of a character is a trait Thus. or as few as one See Figure 14. Alleles.1. See Table 14. different) alleles which give rise to distinct phenotypes (although it is also possible for two distinct alleles to give rise to the same phenotype) A diploid organism has up to two alleles present in their genome per locus. Phenotype imperfectly maps onto genotype That means that there may exist numerous genotypes for any one phenotype An example of such imperfect mapping are the phenotypes associated with dominant and recessive alleles See Figure 14. are referred to as different alleles Different alleles may or may not elicit (code for) different phenotypes When a gene has a dominant form and a recessive form. number of legs.

3.) always resembling the parents In such a situation we can infer that the parents together possessed only a single allele at the locus in question This would be a total of four identical alleles between the two original parents Such characters are said to be true breeding because they fail to vary through the generations ["true breeding" (Google Search)] [index] (d) (e) (f) (11) Homozygosity (homozygote) [genotype] (a) True breeding stems from homozygosity . The results of Mendel�s F1 crosses for seven characteristics in pea plants [genetic trait (Google Search)] [index] (d) (e) (f) (8) Diploidy [genotype] (a) (b) In diploid organisms. whether identical or different. etc. will interact to produce a trait The interaction between non-identical alleles results in interesting non-correspondences between genotype and phenotype (c) (d) (e) (9) Segregation of alleles (Mendel�s law of segregation) [genotype] (a) Note that during meiosis the allele found on one homologue will segregate from the homologous allele found on a the other homologue This is cytogenetical basis for Mendel�s law of segregation See Figure 14. flower color is the character and purple is the trait See Table 14. alternative versions of a gene Each of these alleles. Alleles. Mendel�s law of segregation [segregation of alleles.4.1.(c) And we have different alleles of that gene which are responsible for different traits associated with that character For example. phenotype typically imperfectly maps onto genotype This is in part because diploid organisms (but not haploids) can possess up to two alleles at a given locus (one on each homologue) See Figure 14. Mendel's law of segregation (Google Search)] [index] (b) (c) (d) (10) True breeding [genotype] (a) (b) (c) Diploidy also results in interesting patterns of inheritance The simplest pattern results in all offspring (and their offspring. a purple flower may have an allele which codes for a purple dye at the flower-color loci in the plant's genome.

typically the dominant allele is capitalized (e. homologous chromosome That is. each of which within the same individual is considered homologous to each of these other alleles Thus. (unless the gene has pleiotropic effects) [homologous alleles (Google Search)] [index] (c) (d) (14) Dominance relationships (dominant alleles) [phenotype] (a) Some alleles are capable of expressing a trait at the expense of a second. the homologous allele. might code for white flowers (or purple flowers or whatever). but not plant height. A) [dominance relationships genetics.(b) Homozygosity simply refers to a lack of non-identity (they�re the same) of the two alleles found at a given locus within a diploid individual Such an individual is said to be a homozygote [homozygosity. typically the recessive allele is written in lower case (e. dominant alleles (Google Search)] [index] (b) (c) (d) (15) Recessive alleles [phenotype] (a) An homologous allele that fails to have an impact on phenotype when paired with a dominant allele is said to be recessive When we abbreviate alleles..g. at a given locus a flower may contain an allele that codes for the trait purple flowers. a gene can consist of various alleles (up to 2 in a diploid individual).g.. homozygote (Google Search)] [index] (c) (d) (12) Heterozygosity (heterozygote) [genotype] (a) (b) An individual who possesses two different alleles at a given locus is said to be a heterozygote Note that the two alleles defining a heterozygote will segregate into different gametes such that 50% of gametes will posses one allele and the rest (50%) of the gametes will posses the other allele [heterozygosity. homologous allele within a heterozygote Such alleles (the former) are said to display dominance When we abbreviate alleles. heterozygote (Google Search)] [index] (c) (13) Homologous allele [genotype] (a) (b) A homologous allele is an allele that is found at the same locus on a different. a) [recessive alleles (Google Search)] [index] (b) (c) (16) Homozygous recessive [phenotype] (a) An individual who possesses only a recessive allele at a given locus is said to be homozygous recessive . etc. found on a homologous chromosome.

(b) That is. parental generation (Google Search)] [index] The F1 generation is the product (the offspring) of the parental cross (P generation) F stands for filial See Figure 14. at that locus the individual�s genotype would be aa where a is the abbreviation for the recessive allele [homozygous recessive (Google Search)] [index] (c) (17) Homozygous dominant [phenotype] (a) (b) An individual who possesses only the dominant allele at a given locus is said to be homozygous dominant That is. flower color in peas An example of a monohybrid cross could be abbreviated as Aa x Aa Note that each individual participating in a monohybrid cross is heterozygotic at the locus in question See Figure 14.g. AaBBcc x aaBBcc is a cross between two individuals where we are keeping track of alleles found at three different loci (locus A.e. mated) In an experimental breeding program this first generation is called the P generation See Figure 14.4. Mendel�s law of segregation . Mendel�s law of segregation ["P generation". and locus C) (19) Monohybrid cross [genotype] (a) A monohybrid cross is a mating between two individuals who we are scoring for variation in a single character controlled by a single locus For example.. at that locus the individual�s genotype would be AA where A is the abbreviation for the dominant allele CROSSES (18) Cross [genotype] (a) (b) A cross is a mating between two individuals We abbreviate the occurrence of a cross as an x found between two genotypes..4.4. locus B. e. Mendel�s law of segregation (b) (c) (d) (e) (20) P generation (a) (b) (c) (d) (e) (21) F1 generation (a) (b) (c) P stands for parental The parents are the first generation to be crossed (i.

often we may not know the genotype of an organism.(d) (22) F2 generation (a) (b) (c) [F1 generation.4. or by which one attempts to infer genotype information from phenotype information See Figure 14. to transcend messes such as this we will instead employ probability theory (c) (d) (e) (25) Testcross [genotype & phenotype] (a) Because phenotype maps imperfectly onto genotype. purple flowers may indicate either the heterozygous situation or the dominant homozygous situation How do we tell the two apart? The traditional way is to do a testcross (b) (c) (d) ... even if we know the phenotype and have a firm understanding of the underlying genetics For example. Mendel�s law of segregation (see in particular the diamond shaped box associated with the F2 generation) Note that each progeny organism inherits one allele (and only one allele) from each parent The Punnett square is limited in its power particularly because introducing multiple alleles (i. multiple loci into a cross results in an enormous mess. Mendel�s law of segregation AA x aa = P generation Aa = F1 generation AA + Aa + Aa + aa = F2 generation Say A is a dominant allele (e. Mendel�s law of segregation [F2 generation. second filial (Google Search)] [index] (23) Cross between homozygous dominant and homozygous recessive [genotype & phenotype] (a) (b) (c) (d) (e) (f) (g) (h) See Figure 14.4..g. codes for a purple flower color) Say a is a recessive allele (e. in particular. cods for a white flower color) Then the F1 generation will have only purple flowers The F2 generation will have three purple flowers for every white flower (24) Punnett square [genotype] (a) The Punnett square is a means by which one attempts to keep track of expected genotypes following crosses.g. first filial (Google Search)] [index] The F2 generation is the product (the offspring) of the interbreeding of the F1 generation See Figure 14.4. more than two) and.e.

6. a dihybrid is an individual that is heterozygous at two independent loci A dihybrid cross is AaBb x AaBb Follow this cross through the F2 generation See Figure 14. dihybrid cross. a genotype having an abbreviation of AaBb That is. thus the genotype of the first parent in each cross may be determined via this testcross) See Figure 14. for example. it is the individuals with the white flowers That is. A testcross [testcross (Google Search)] [index] (f) (g) (h) (i) (j) (k) (l) (26) Dihybrid cross (9:3:3:1 ratio) [genotype & phenotype] (a) (b) (c) (d) (e) (f) (g) (h) (i) Upping the ante of complexity is the dihybrid cross A dihybrid is. i. "9:3:3:1" genetics (Google Search)] [index] (27) Independent assortment [genotype] (a) (b) The 9:3:3:1 ratio requires independent assortment of loci That is. for this ratio to appear..7. dihybrid cross problems. the homozygous recessive can produce only the white flower trait (in this example) In other words. the homozygous recessive condition typically displays a one-to-one mapping of phenotype onto genotype Examples of a testcross: Aa x aa or AA x aa (the former will give rise to two phenotypes whereas the latter will give rise to only one phenotype. Testing two hypotheses for segregation in a dihybrid cross Note the final phenotypic ratio of 9:3:3:1 Make sure you understand this ratio as well as how to generate it [dihybrid.(e) In a testcross the individual with the unknown genotype is crossed with an individual with a known genotype What genotype is known? For the pea flower color example. the two loci in question must be both randomly and independently shuffled (segregated) between gametes during meiosis You will understand what I mean by this when we consider the opposite situation. when loci are not independently shuffled but instead are linked together [independent assortment (Google Search)] [index] (c) (d) (28) Trihybrid (and higher) crosses [genotype] .e.

we have begun to touch upon the theory of probabilities As we delve further into genetic variation and heredity (i...(a) (b) (c) (d) (e) (f) (g) The dihybrid cross can be understood employing the Punnett square However. genetics) we will also delve further into probability theory (e. Punnett squares become unwieldy as allele and locus number is increased A monohybrid cross looks like this: Aa x Aa A dihybrid cross looks like this: AaBb x AaBb A trihybrid cross looks like this: AaBbCc x AaBbCc A tetrahybrid cross looks like this: AaBbCcDd x AaBbCcDd.e. considers (i) (ii) (iii) (iv) (v) (e) Statistical independence A range of probabilities from 0 to 1 The law of multiplication Calculating for events not happening The law of addition Probability theory will be found on exams only in the guise of genetics problems. that is. at its simplest.g. trihybrid cross problems (Google Search)] [index] (h) PROBABILITY THEORY (know to solve genetics problems) (29) Probability theory (a) (b) In considering genetic variation. Hardy-Weinberg equilibrium) It has been my experience that students who fail to grasp probability theory to some extent go on to fail to grasp genetics Probability theory. we will assume that all events occur independently This means that the occurrence of one event has no impact on the occurrence of another event . To follow the products of these higher-order hybrid crosses it is far easier to employ the tools of probability theory [trihybrid. etc. trihybrid cross. don�t worry about the terms (unless you find them helpful) so much as how to employ probability theory when doing your genetics problems [probability theory (Google Search)] [index] (c) (d) (f) (30) Statistical independence (a) (b) As a simplifying assumption.

what is the likelihood of not rolling a total of exactly three 4�s in three rolls of dice? 1. this point can come back to haunt you all through biology (c) (d) (e) (33) Calculating for events not happening (a) (b) (c) Note that the law of multiplication can be used to calculate the probability of events not happening To do this.5 * 0.5 (e.0 means that an event will never happen A probability of 1. an event with a probability of 0. then subtract that likelihood from 1.5 x 0. when tossing dice.g.17) = 1 . it means that when you toss two coins. two subsequent tosses of a coin.(1/6)3 = 0.. four? 0.5 = 0.(c) Stated as an example. assume that it does always apply [statistical independence (Google Search)] [index] (d) (e) (31) Range of probabilities (a) (b) (c) (d) Probabilities are assigned numerical values A probability of 0.5 will occur half the times in which circumstances are such that such an event could occur (e.5 = 0.0625 = 0.. the more likely it will occur In other words. what is the likelihood that both will be heads?) The answer is that the likelihood that two events will occur in two chances is the product of each event occurring during each chance individually (note that this ability to use the law of multiplication fails to work if the two events are not statistically independent) For example..0.995 (34) Law of addition .g. the likelihood of a 3 being tossed is 1/6 = 0.5 = 0.0 and 1. the likelihood of obtaining two heads in two tosses of a coin are 0.17 will occur with much less likelihood than an event with a probability of 0.5 * 0. for now. half the time it will come up heads and half the time it will come up tails) An event with a probability of 0.125. assuming the dice aren�t loaded.5 * 0.g.5 x 0.17 x 0. a probability of 1/6 should be true for any given number per toss) [range of probabilities (Google Search)] [index] (e) (f) (g) (32) Law of multiplication (a) (b) Assume that two events are statistically independent What is the probability that two such events will occur during two circumstances during which the event could occur (e. when a coin is tossed.17 x 0.54) Note that doing stuff like this can often be much more difficult should one choose to avoid exponential notation.0 means that an event will always happen An event with a probability between 0.0 For example. simply calculate the likelihood that an event will happen.25 (three tosses? 0.0 will occur with some proportional likelihood such that the closer the probability is to 1.5 x 0.17. which side one coin lands on does not influence which side the other coin lands on Note that statistical independence need not always apply but.0 � (0.

(a) When a complex event (i. Calculate both phenotypic ratios and genotypic ratios for the results of each of the following crosses: (i) (ii) (iii) (iv) (c) (i) (ii) (iii) TtSs x TtSs Ttss x ttss���������� ttSs x Ttss TTss x ttSS What fraction of the offspring of parents each with the genotype KkLlMm will be: kkllmm kkLLmm kkLlmm .17)3 + (0. 5-4-3. one requiring more than one step) can occur via more than one series of steps. what is the probability that in three subsequent rolls of dice you will roll one 3. An allele of another independent gene produces smooth peas (S) and is dominant over the allele for wrinkled peas (s). and one 5? To answer this. Give the genotypic and phenotypic ratios for the results of each of the following crosses: (i) (ii) (iii) (b) WW x ww Ww x ww Ww x Ww In peas an allele for tall plants (T) is dominant over the allele for short plants (t).17)3 = 6 x (0.17)3 + (0.0 (and you have included all possibilities in your sum) then you have made some kind of mistake (and/or don�t understand the calculation) (35) Probability theory/genetics practice problems: (a) In squash an allele for white color (W) is dominant over the allele for yellow color (w).. distinguishing them by order: 3-4-5. 4-3-5.028 = 0. you should always use this fact as a check on your calculations � if your probabilities do not all add of to 1.17)3 for each Now add together all of the probabilities of having the event by each possible path: (0.e. first break down the problem into the many possible ways you can roll these numbers.028 The likelihood of not ending up with any of these combinations. what is the likelihood that the event will occur. calculate the likelihood for each set: here this works out to (0.17)3 = 0.17)3 + (0. 4-5-3 Now.972 (b) (c) (d) (e) (f) (g) Note that the sum of all possibilities must always add up to 1. one 4.17)3 + (0.17)3 + (0. is 1 � 0. by the way. 3-5-4. independent of route? The answer is the sum of the probabilities that it will occur by all of the individual routes For example. 5-3-4.0.

each genotype possesses a distinct phenotype) [incomplete dominance (Google Search)] [index] (d) (e) (f) (g) (39) Complete dominance [phenotype] (a) (b) Complete dominance up to now we have referred to simply as dominance (or dominant) Molecularly. with complete dominance the protein produced can make up for a lack of activity exhibited by the protein produced by the recessive allele Alternatively. the IA and IB alleles in the ABO blood group display codominance to each other (c) (d) (e) . in incomplete dominance only one allele produces a functional protein) Nevertheless. no color was produced Note that with incomplete dominance the phenotypic ratios mirror the genotypic ratios (i.. with codominance phenotype again mirrors genotype For example.e. what is happening is that the protein produced by the incompletely dominant allele is not able to make up (completely) for the lack of activity exhibited by the protein made by the recessive allele See Figure 14.e..(d) Note that for this latter problem it is far easier to employ probability theory than it is to employ a Punnett�s square (38) Incomplete dominance [phenotype] (a) (b) (c) Some alleles fail to completely dominate recessive alleles In this case we call the dominance relationship incomplete dominance Molecularly. is the product of a non-functional protein. i. Incomplete dominance in snapdragon color White.e. the effect of the recessive allele may be sufficiently slight that the phenotype associated with the completely dominant allele completely masks that associated with the recessive allele Example: brown and blue eye color Example: Black fur versus brown fur in mice Example: AO and BO in ABO blood group [complete dominance genetics (Google Search)] [index] (c) (d) (e) (f) (g) (40) Codominance [phenotype] (a) (b) Codominance occurs when two alleles both express functional proteins Very often the heterozygote possessing two codominant alleles displays the phenotypic product of both codominant alleles Note how this differs from the concept on incomplete dominance (i. in the example in the figure.9..

e. IB. one functional and one non-functional protein is describing two very real phenotypes associated with each allele [codominance (Google Search)] [index] (g) (h) (41) Multiple alleles [genotype] (a) (b) The simplest case is one allele per locus We have been considering the two allele. IA. at the molecular level.10.g. Multiple alleles for the ABO blood groups [ABO blood group (Google Search)] [index] (c) (43) Pleiotropy [phenotype] . the meaning of codominance is that both the A and the B phenotypes (oligosaccharides) are displayed by red blood cells Note that. diploid individual a maximum of only two alleles may present [multiple alleles (Google Search)] [index] (c) (d) (e) (f) (42) ABO blood group [genotype & phenotype] (a) (b) (i) (ii) (iii) An example of a locus that displays multiple alleles is the locus that controls the ABO blood groups The ABO blood groups are controlled by three alleles. more than one loci situations. and i IA is codominant to IB Both IA and IB are dominant to I Note the different notation from that we have employed so far.(f) In this case. dihybrid cross) In addition there exist numerous examples of more than two allele. for example.. in a single. variation in the notation used to specify genotype or phenotype is very common in genetics Possible phenotypes associated with ther ABO blood groups include (i) (ii) (iii) (iv) (d) (e) AB = IAIB (a codominant. one locus genetics (and various dominance relationships can exist between different alleles) This latter case may be referred to as examples of multiple alleles Note that no matter how many alleles may be found at a given locus within a population of individuals. heterozygous phenotype) A = IAIA or IAi (a dominant phenotype) B = IBIB or IBi (a dominant phenotype) O = ii (the homozygous recessive phenotype) See Figure 14. one locus situations (as well as two alleles per loci. all dominance relationships are ones of codominance since the very act of describing.

the effect of an allele is more or less constant. BBCc. white. or BbCc Brown fur = bbCC or bbCc White fur (albino) = BBcc. at some level of phenotype (e.g. Bbcc. BbCC. Note that typically.(a) (b) (c) The simplest case is where one locus controls only a single character (e.g..11. high susceptibility to skin cancer. eye color) Often. An example of epistasis Note that the albino syndrome is actually a pleiotropy since albinism results in many defects in addition to a lack of fur (or hair) color. e. red irises.. lack of skin color.g. or bbcc See Figure 14. however. etc. poor vision. etc. poor eyesight. molecular). but can have different effects on different systems (cells. tissues. [epistasis (Google Search)] [index] (b) (c) (d) (h) (45) Polygenic inheritance (quantitative characters) [genotype & phenotype] (a) Often one character is controlled by more than one locus (as with epistasis) but where loci display an additive effect (rather than qualitatively different effects as with the mouse example above) . nor affects the display of phenotype by alleles found at other loci Nevertheless. cross-eyed tigers.. organs) or with regard to different means of measuring the defect (d) (e) (44) Epistasis [phenotype] (a) The simplest case is where the phenotype controlled by one locus is neither affected by alleles found at other loci. a single locus will control more than one character The set of characters controlled by a single locus in this more-complicated case is known as that locus� pleiotropy Examples: albinism. often one locus will influence the expression of a second locus (though not necessarily more than one character) This inter-locus interacting is termed epistasis Example (from text): Mouse coat color (i) (ii) (iii) (iv) (e) (i) (ii) (iii) (f) (g) B = black coat color (dominant) b = brown coat color (recessive) C = coat is colored (dominant) c = coat displays no color (recessive) Phenotypes (with underlying genotypes) include Black fur = BBCC.

height and skin color (in humans) are quantitative characters Animal and plant breeding typically involves quantitative characters (bigger melons. this is why such alleles tend to be the products of same-generation mutational genesis Huntington�s disease is excepted because the time of typical onset of symptoms is after child rearing (e. that is) Mutational genesis of early-onset lethal traits Examples of human autosomal dominant traits include (no need to memorize unless you are interested): Brown eyes Widows peak Free (not attached) earlobes Huntington�s disease Etc. etc. 35 to 45 years old) Consequent to the self-culling effect of early onset.) Figure 14.14a.(b) (c) (d) (e) Such characters are termed quantitative and the associated genetics polygenic inheritance Typically quantitative characters can vary over a significant range controlled by their underlying genetics For example. higher yields.g... not affected) carriers (at least in principle. smaller dogs. quantitative characters (Google Search)] [index] (f) (g) (50) Autosomal dominant traits (a) (i) (ii) (iii) (iv) (b) (i) (ii) (iii) (iv) (v) (c) Dominant. lethal autosomally dominant alleles tend to be very rare See Figure 14.e. autosomal traits have the following characteristics in a pedigree No skipping of generations Typically only about half of offspring are also affected No silent (i. A simplified model of polygenic inheritance of skin color [polygenic inheritance. Pedigree analysis (d) (e) (f) .12. Note that lethal autosomally dominant diseases tend to be very rare because all affected individuals (all who carry the allele) die before passing that allele on to their offspring (evolution in action� literally).

autosomal traits have the following characteristics in a pedigree Skipping generations (essentially same thing as �silent carriers� for early onset diseases) Silent carriers (typically both parents) One-fourth progeny affected (when both parents are not affected) More likely early onset lethal than autosomal dominants For less serious conditions. parents can be homozygous recessives Examples of human autosomal recessive traits include (no need to memorize unless you are interested): Blue eyes Lack of widow�s peak Attached earlobes Cystic fibrosis Tay-Sachs disease Sickle-cell disease Etc.(g) (h) [autosomal dominant. autosomal dominant traits pedigree analysis. . autosomal dominant traits. autosomal dominant traits pedigree analysis problems (Google Search)] [index] (51) Autosomal recessive traits (a) (i) (ii) (iii) (iv) (v) (b) (i) (ii) (iii) (iv) (v) (vi) (vii) Recessive.

the underlying alleles tend to be rare in populations. life threatening) autosomal recessive trait. the majority of such alleles are found.14b. Pedigree analysis (d) . this is because the homozygous recessives tend to be �culled�..e. consequently. within populations.(c) For a serious (i. in individuals who are heterozygous at the loci in question See Figure 14.

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