22

Chapter 3

Chapter 3

Extensions to Mendel: Complexities in Relating Genotype to Phenotype

Synopsis:
This chapter builds on the principles of segregation and independent assortment that you learned in Chapter 2. An understanding of those basic principles will help you understand the more complex inheritance patterns in Chapter 3. While the basic principles for the inheritance of alleles of one or more genes hold true, the expression of the corresponding phenotypes is more complicated. Chapter 3 describes several examples of single gene inheritance in which phenotypic monohybrid ratios are different from the complete dominance examples in Chapter 2 see !ignificant "lements below and Table 3.1#. These variant phenotypic monohybrid ratios may be caused by$

incomplete dominance% codominance% dominance series of multiple alleles lethal alleles% pleiotropy. Also introduced in this chapter are examples in which two or more interacting genes determine

the phenotype. &emember from Chapter 2 that crosses involving two independently assorting genes have a ' A(B( $ 3 A( bb $ 3 aa B( $ ) aa bb dihybrid *2 phenotypic ratio. +f two genes interact then the dihybrid ratio is a modification of the '$3$3$) ratio. This modification involves the same genotypes for the progeny. ,ecause of the effect of an allele of one gene on the other gene epistasis#, the four classes can be added together in different combinations. -ultigene inheritance .2 genes involved# leads to even more phenotypic classes. With more genes controlling a trait you see a continuous range of phenotypes instead of discrete traits, as in Figure 3.21. Penetrance and expressivity are terms used to describe some cases of variable phenotypic expression in different individuals. /enetrance describes the fraction of individuals with a mutant genotype who are affected while expressivity describes the extent to which individuals with a mutant genotype are affected.

23

Chapter 3

Significant Elements:
After reading the chapter and thin0ing about the concepts you should be able to$

1nderstand that novel phenotypes arise when there is codominance or incomplete dominance. The novel phenotype will appear in the *) generation. +n the *2 generation, this same phenotype must be the largest component of the )$2$) monohybrid ratio.

&eali2e that if you see a series of crosses involving different phenotypes for a certain trait, for example coat color, and each individual cross gives a monohybrid ratio, then all the phenotypes are controlled by one gene with many alleles. +n other words, the problem involves an allelic series as in Figure 3.6. +t is important to write a dominance hierarchy for the alleles of the gene, e.g. a 3 b . c. Thus, a is codominant or incompletely dominant to b and both a and b are completely dominant to c.

1nderstand that lethal mutations are almost always recessive alleles, as shown in Figure 3.9. +f there is a recessive lethal allele present in a cross you can never ma0e that allele homo2ygous. Therefore the cross must have involved parents hetero2ygous for the lethal allele. +nstead of the expected )$2$) ratio in the progeny, one of the )45 classes is lethal, so the monohybrid phenotypic ration will be 243 hetero2ygous phenotype $ )43 other viable# homo2ygous phenotype caused by homo2ygosity for the other allele. The recessive lethal allele may be pleiotropic and show a different, dominant phenotype, as in Figure 3.9.

&emember that epistasis involves two genes. +n epistasis, none of the progeny die. All are present, but instead of four phenotypic classes in a '$3$3$) phenotypic dihybrid ratio, you will see an epistatic variation where 2 or 3 of the phenotypes have been summed together, for example '$3$5 or '$6 or )2$3$).

Problem Solving Tips:

!olve enough problems so you can distinguish single and two gene traits on the basis of inheritance patterns. 7oo0 for the number of classes in the *2 generation to identify single gene inheritance 3$), )$2$), )$) or 2$)# versus 2 gene inheritance '$3$3$) or an epistatic variation#. +n the !tudy 8uide 9monohybrid ratio9 is used in a more general sense than in the text to refer to any ratio that is based on the segregation of the alleles of a single gene 3$), )$2$), )$) or 2$)#. 7i0ewise, in the !tudy 8uide dihybrid ratio refers to any ratio based on the segregation of the alleles of 2 genes '$3$3$), )$3$5, ):$), etc#.

,e able to derive the monohybrid phenotypic ratios for incomplete dominance4codominance and lethal alleles involving inheritance of a single gene.

Chapter 3

25

+t is critical that you understand the '$3$3$) phenotypic dihybrid ratio involves the 5 classes '4); A( B( $ 34); A( bb $ 34); aa B( $ )4); aa bb, where a dashed line (# indicates either a dominant or recessive allele. +f the phenotype involves 2 genes, be able to propose ways in which two genes interact based on offspring ratios. <o not merely memori2e the altered ratios Table 3.2#% instead thin0 through what the combinations of alleles mean.

&emember the product rule of probability and use it to determine proportions of genotypes or phenotypes for independently assorting genes.

Problem Solving - How to Begin: THREE ESSENTIAL QUESTIONS (3EQ):

=). >ow many genes are involved in the cross? =2. *or each gene involved in the cross$ what are the phenotypes associated with the gene? Which phenotype is the dominant one and why? Which phenotype is the recessive one and why? @=3. *or each gene involved in the cross$ is it A(lin0ed or autosomal?B At this point, only Cuestions =) and =2 may be applied. The material that is the basis of Cuestion =3 will be covered in Chapter 5. Hints: ," CDE!+!T"ET. Always diagram the crosses and write out the genotypes. !et the problems up the same way. Eote the repetitive approach to many of the problems in this chapter. -a0e sure you always distinguish between genotypes and phenotypes when wor0ing the problems. To answer 3EQ=), loo0 for the number of phenotypic classes in the *2 progeny. Two phenotypes usually means ) gene, 5 phenotypes -1!T be due to 2 genes. Three phenotypic classes is an ambiguous result ( this could result from ) gene with codominance or incomplete dominance, or from 2 genes with epistasis. 1se the ratio of phenotypes to distinguish between these possibilities. Dne gene with codominance4incomplete dominance -1!T give )$2$) while 2 genes with 3 phenotypes will be an epistatic variation of a '$3$3$). *or 3EQ=2 when one gene is involved, loo0 at the phenotype of the *) individuals. +f the phenotype of the *) progeny is li0e one of the parents, then that phenotype is the dominant one. Also, examine the *2 progeny F the 345 portion of the 3$) phenotypic monohybrid ratio is the dominant one. +f the phenotype of the *) progeny is unli0e either parent, then it may be the alleles of the gene are codominant or incompletely dominant. +n this case, the novel *) phenotype will be seen again in the largest class of *2 progeny.

2:

Chapter 3

After you answer 3EQ=) and =2 to the best of your ability, use the answers to assign genotypes to the parents of the cross. Then follow the cross through, figuring out the expected phenotypes and genotypes in the *) and *2 generations. &emember to assign the expected phenotypes in a manner consistent with those initially assigned to the parents. Eext, compare your predicted results to the observed data you were given. +f the 2 sets of information match, then your initial genotypes were correctG +n many cases there may be two possible set of genotypes for the parents. +f your predicted results do not match the data given, try the other set of genotypes for the parents. !ee problem 3(25 for an illustration of this issue.

Solutions to Problems:

Vocabulary 3-1. a. 2 b. 6 c. 11 d. ! e. " f. 9 g. 12 h. 3 i. # H. $ 0. 1 l. 1%. Section 3.1 Single Gene Extensions to Mendel 3-2. The problem states that the intermediate pin0 phenotype is caused by incomplete dominance for the alleles of a single gene. We suggest that you employ genotype symbols that can show the lac0 of complete dominance% the obvious R for red and r for white does not reflect the complexity of this situation. +n such cases we recommend using a base letter as the gene symbol and then employing superscripts to show the different alleles. To avoid any possible misinterpretations, it is always advantageous to include a separate statement ma0ing the complexities of the dominant4recessive complications clear. <esignate the two alleles fr 3 red and fw 3 white, so the possible genotypes are frfr 3 red% frfw 3 pin0% and fwfw 3 white. Eote that the phenotypic ratio is the same as the genotypic ratio in incomplete dominance. a. <iagram the cross$ frfw x frfw I 1&$ frfr 're() * 1&2 frfw 'pin+) * 1&$ fwfw 'white). b. fwfw x frfw I 1&2 frfw 'pin+) * 1&2 fwfw 'white). c. frfr x frfr I 1 frfr 're(). d. frfr x frfw I 1&2 frfr 're() * 1&2 frfw 'pin+). e. fwfw x fwfw I 1 fwfw 'white). f. frfr x fwfw I 1 frfw 'pin+). The cross shown in part , is the most efficient way to produce pin0 flowers, because all the progeny will be pin0.

Chapter 3

2;

3-3. <iagram the cross$ yellow x yellow I 3J yellow $ 22 red $ 2K white Three phenotypes in the progeny show that the yellow parents are not true breeding. The ratio of the progeny is close to )42 $ )45 $ )45. This is the result expected for crosses between individuals hetero2ygous for incompletely dominant genes. Thus$ crcw x crcw - 1&2 crcw 'yellow) * 1&$ crcr 're() * 1&$ cwcw 'white). 3-$. a. <iagram the cross$ e+e+ x e+e I )42 e+e+ $ )42 e+e. The trident mar0ing is only found in the hetero2ygotes, so the probability is 1&2. b. The offspring with the trident mar0ing are e+e, so the cross is e+e x e+e I )45 ee $ )42 e+e $ )45 e+e+. Therefore, of 3KK offspring, "# shoul( have ebony bo(ies. 1#% shoul( have the tri(ent mar+ing an( "# shoul( have honey-colore( bo(ies.

3-#. The cross is$ white long x purple short I 3K) long purple $ '' short purple $ ;)2 long pin0 $ )': short pin0 $ 2': long white $ 'J short white <econstruct this dihybrid phenotypic ratio for two genes into separate constituent monohybrid ratios for each of the 2 traits, flower color and pod length. *or flower color note that there are 3 phenotypes$ 3K) L '' purple $ ;)2 L)': pin0 $ 2': L 'J white 3 5KK purple $ JK6 pin0 $ 3'3 white 3 )45 purple $ )42 pin0 $ )45 white. This is a typical monohybrid ratio for an incompletely dominant gene, so ,lower color is cause( by an incompletely (ominant gene with cp giving purple when homo/ygous. cw giving white when homo/ygous. an( the cpcw hetero/ygotes giving pin+. *or pod length, the phenotypic ratio is 3K) L ;)2 L 2': long $ '' L )': L 'J short 3 )2KJ long $ 3'2 short 3 345 long $ )45 short. This 3$) ratio is that expected for a cross between individuals hetero2ygous for a gene in which one allele is completely dominant to the other, so po( shape is controlle( by 1 gene with long 'L) completely (ominant to short 'l). 3-6. A cross between individuals hetero2ygous for an incompletely dominant gene give a ratio of )45 one homo2ygote# $ )42 hetero2ygote with the same phenotype as the parents# $ )45 other homo2ygote#. ,ecause the problem already states which genotypes correspond to which phenotypes, you 0now that the color gene will give a monohybrid phenotypic ratio of )45 red $ )42 purple $ )45 white, while the shape gene will give a monohybrid phenotypic ratio of )45 long $ )42 oval $ )45 round. ,ecause the inheritance of these two genes is independent, use the product rule to generate all the possible phenotype combinations note that there will be 3 x 3 3 ' classes# and their probabilities, thus generating the dihybrid phenotypic ratio for two incompletely dominant genes$ 1&16 re( long * 1&! re( oval * 1&16 re( roun( * 1&! purple long * 1&$ purple oval * 1&! purple roun( * 1&16 white long * 1&!

26

Chapter 3

white oval * 1&16 white roun(. As an example, to determine the probability of red long progeny, multiply )45 probability of red# x )45 probability of long# 3 )4);. +f you have trouble 0eeping trac0 of the ' possible classes, it may be helpful to list the classes in the form of a branch diagram. Phenotype red, long red, oval red, round purple, long purple, oval purple, round white, long white, oval white, round Probability of phenotype )45 )453)4); )45 )423)4J )45 )453)4); )42 )453)4J )42 )423)45 )42 )453)4J )45 )453)4); )45 )423)4J )45 )453)4);

3-". 0oman numerals are missing ,rom the (iagram in the textboo+. a. The most li0ely mode of inheritance is a single gene with incomplete (ominance such that fnfn 3 normal M2:K mg4dl#, fnfa 3 intermediate levels of serum cholesterol 2:K(:KK mg4dl# and fafa homo2ygotes 3 elevated levels .:KK mg4dl#. !ome of the individuals in the pedigrees do not fit this hypothesis. +n t 2 of the families, two normal parents have a child with intermediate levels of serum cholesterol$ Family 2 12-2 fnfn x 2-3 fnfn - 3 fafn chil(ren an( Family $ - 2-1 fnfn x 2-2 fnfn - 2 fnfa chil(ren. /art a as0s for special conditions that might explain these results. That Cuestion is similar to what is as0ed in part b. "ither combine parts a and b or phrase the Cuestion differently and provide some examples. b. Factors other than 3ust the genotype are involve( in the expression o, the phenotype. 4uch ,actors coul( inclu(e (iet. level o, exercise. an( other genes.

3-!. a. A person with sic0le(cell anemia is a homo2ygote for the sic0le(cell allele$ HbSHbS. b. The child must be homo2ygous HbSHbS and therefore must have inherited a mutant allele from each parent. ,ecause the parent is phenotypically normal, he4she must be a carrier with genotype HbSHbA. c. "ach individual has two alleles of every gene, including the N(globin gene. +f an individual is hetero2ygous, he4she has two different alleles. Thus, if each parent is hetero2ygous for different alleles, there are ,our possible alleles that could be found in the five children. This is the maximum number of different alleles possible barring the very rare occurrence of a new, novel mutation in a

Chapter 3

2J

gamete that gave rise to one of the children#. +f one or both of the parents were homo2ygous for any one allele, the number of alleles distributed to the children would of course be less than four. 3-9. &emember that the gene determining A,D blood groups has 3 alleles and that IA 3 IB . i. a. The D phenotype means the girl9s genotype is ii. "ach parent contributed an i allele, so her parents could be ii '5) or IAi '6) or IBi '7). b. A person with the , phenotype could have either genotype IBIB or genotype IBi. The mother is A and thus could not have contributed an IB allele to this daughter. +nstead, because the daughter clearly does not have an IA allele, the mother must have contributed the i allele to this daughter. The mother must have been an IAi hetero2ygote. The father must have contributed the IB allele to his daughter, so he could be either IBIB, IBi, or IBIA. c. The genotypes of the girl and her mother must both be IAIB. The father must contribute either the IA or the IB allele, so there is only one phenotype and genotype which would exclude a man as her father ( the 5 phenotype 'genotype ii). 3-1%. To approach this problem, loo0 at the mother4child combinations to determine what alleles the father must have contributed to each child9s genotype. a. The father had to contribute IB, N, and Rh- alleles to the child. The only male fitting these reCuirements is male ( whose phenotype is ,, -E, and &hL note that the father must be RhLRh( because the daughter is &h(#. b. The father had to contribute i, N, and Rh- alleles. The father could be either male c D -E &hL# or male d , -E &hL#. As we saw previously, male c is the only male fitting the reCuirements for the father in part a. Assuming one child per male as instructed by the problem, the father in part b must be male c. c. The father had to contribute IA, M, and Rh- alleles. Dnly male b A - &hL# fits these criteria. d. The father had to contribute either IB or i, M, and Rh-. Three males have the alleles reCuired$ these are male a, male c, and male d. >owever, of these three possibilities, only male a remains unassigned to a mother4child pair. 3-11. <esignate the alleles$ pm marbled# . ps spotted# 3 p flow, + would flip parts a and b. a. <iagram the crosses$ ). pmpm homo2ygous marbled# x psps spotted# I pmps marbled *)# 2. p p x pcpc I p pc dotted *)# dotted# . pc clear#. *or more logical

2'

Chapter 3

3. pmps x p pc I )45 pmp marbled# $ )45 pmpc marbled# $ )45 psp spotted dotted# $ )45 pspc spotted# 3 1&$ spotte( (otte( * 1&2 marble( * 1&$ spotte(. b. The *) from cross ) are marble( 'pmps) from the first cross an( (otte( (pdpc) from the second cross as shown in part a. 3-12. <esignate the gene p for pattern% this is a different p gene than that in the previous problem 3()) because the two problems involve different plant species#. There are 6 alleles, p!(p", with p" being the allele that codes for absence of pattern and p! . p# . p$ . p% . p& . p' . p". a. There are " (i,,erent patterns possible. These are associated with the following genotypes$ p!(, p#pa where pa 3 p#, p$, p%( p"#, p$pb where pb 3 p$, p%, p&( p"#, p%pc where pc 3 p%, p&, where p 3 p&, p', and p"#, p'pe where pe 3 p' and p"#, and p"p". b. The phenotype dictated by the allele p! has the greatest number of genotypes associated with it 3 " p!p! p!p# p!p$, etc.#. The absence o, pattern is caused by Hust one genotype, p"p". c. This finding suggests that the allele (etermining absence o, pattern 'p7) is very common in these clover plants with the p"p" genotype is the most freCuent in the population. The other alleles are present, but are much less common in this population. 3.13. a. *irst analy2e these crosses for the answers to the 3"O see /roblem !olving >ints above#. All of the crosses have results that can be explained by one gene ( either a 3$) phenotypic monohybrid ratio showing that one allele is completely dominant to the other, or a )$) ratio showing that a test cross was done for a single gene, or all progeny with the same phenotype as the parents. Pou can thus conclude that all of the coat colors are controlled by the alleles of one gene. with chinchilla 'C) 8 himalaya 'ch) 8 albino 'ca). b. ). chca x chca 2. chca x caca 3. Cch x C'ch or ca) 5. CC x ch 'ch or ca) :. Cca x Cca ;. chch x caca 6. Cca x caca J. caca x caca '. Cch x ch'ch or ca) or Cca x chch )K. Cca x chca. p', and p"#, p&p

Chapter 3

3K

c. Cch ',rom cross 9) x Cca ',rom cross 1%) - )45 )) chinchilla# $ )45 )ca chinchilla# $ )45 )ch chinchilla# $ )45 chca himalaya# 3 3&$ chinchilla * 1&$ himalaya, or Cca 'cross 9) x Cca 'cross 1%) - 3&$ C- chinchilla * 1&$ caca albino.

3)

Chapter 3

3.1$. Pou 0now from the incompatibility system that each plant must be hetero2ygous for two different alleles of the incompatibility gene. A 9(9 in the chart indicates no seeds were produced in a particular mating, which means the parents have an incompatibility allele in common. A 9L9 in the chart means the parents do not have any alleles in common so that they can produce seeds. Thus, loo0ing at the results in the table, plants 2, 3, and : must have one or both# of the alleles from plant ) since they are incompatible with plant ). Arbitrarily designate two different alleles for plant ) as i! and i#. /lants 2, 3 and : must have either allele i! or i# or both. /lant 5 has neither allele present in plant ). 7et9s give plant 5 alleles i$ and i%. *urthermore, plant 2 does not share alleles with plants 3, 5 or : so it must have the allele found in plant ) that plant : does not contain. <esignate i! as the allele shared between plants ) and 2 and designate i# as the allele shared between plants ) and 3 and :. /lant 3 shares an allele with plant :, i#, but it does not share an allele with plant 5. Call the second allele in plant 3 i&. /lants 5 and : share an allele, say i$. We still don9t 0now a second allele for plant 2, but it is not any of those carried by plants 3, 5, or :, so it must be another allele i'. Thus, there are six alleles total. plant ) 2 3 5 : 3-1#. a. This ratio is approximately 2&3 9urly * 1&3 normal. b. The expected result for this cross is$ )y+)y x )y+)y I )45 )y)y ?#$ )42 )y+)y Curly# $ )45 )y+)y+ normal#. +f the Cy/Cy genotype is lethal then the expected ratio will match the observed data. c. The cross is )y+)y x )y+)y+ I )42 )y+)y $ )42 )y+)y+, so there would be approximately 9% 9urly winge( an( 9% normal winge( ,lies. 3-16. a. There are actually two (i,,erent phenotypes mentioned in this problem. Dne phenotype is the shape of the erythrocytes. All people with the genotype Sph(Sph( have spherical erythrocytes. Therefore this phenotype is ,ully penetrant an( shows no variation in expression. The second phenotype is anemia. :ere the expressivity among anemic patients varies ,rom severe to mil(. There are even some people with the Sph-Sph- genotype '1#%&2$%%) with no symptoms o, genotype i!i# i!i' i#i& i$i% i#i$

Chapter 3

32

anemia at all. Thus the penetrance o, the anemic phenotype is 2.2$%&2.$%% or %.9$. b. The disease causing phenotype is the anemia and the severity of the anemia is greatly reduced when the spleen functions poorly and does not QreadQ the spherical erythrocytes. Therefore treatment might involve removing the spleen 'an organ which is not essential to survival). The more e,,iciently the spleen ,unctions the earlier in a patient;s li,e it shoul( be remove(. Sph(Sph( individuals with no symptoms of anemia should not be subHected to this drastic treatment.

3-1". a. The 243 monte2uma $ )43 wild type phenotypic ratio, and the statement that monte2umas are never true(breeding, together suggest that there is a recessive lethal allele of this gene. When there is a recessive lethal, crossing two hetero2ygotes results in a )$2$) genotypic ratio, but one of the )45 classes of homo2ygotes do not survive. The result is the 2*1 phenotypic ratio as seen in this cross. 7oth the monte/uma parents were there,ore hetero/ygous. Mm. The M allele must confer the monte2uma coloring in a dominant fashion, but homo2ygosity for M is lethal. b. <esignate the alleles$ M 3 monte2uma, m 3 greenish% * 3 normal fin, f 3 ruffled. <iagram the cross$ MmFF x mmff - expected monohybrid ratio for the M gene alone$ )42 Mm monte2uma# $ )42 mm wild type#% expected monohybrid ratio for the * gene alone$ all *f. The expected dihybrid ratio 3 1&2 Mm Ff 'monte/uma) * 1&2 mm Ff 'greenish. normal ,in). c. MmFf x Mm Ff - expected monohybrid ratio for the M gene alone$ 243 monte2uma Mm# $ )43 greenish mm#% expected monohybrid ratio for the * gene alone$ 345 normal fin *-# $ )45 ruffled ff#. The expectations when considering both genes together is$ 6&12 monte/uma normal ,in * 2&12 monte/uma ru,,le( ,in * 3&12 green normal ,in * 1&12 green ru,,le( ,in. 3-1!. a. The pattern in both families loo+s li+e a recessive trait since unaffected individuals have affected progeny and the trait s0ips generations. *or example, in the !miths ++(3 must be a carrier, but in order for +++(: to be affected ++(5 must also be a carrier. 2, the trait is rare 'as is this one) you woul(n;t expect two hetero/ygotes to marry by chance as many times as re<uire( by these pe(igrees. The alternative explanation is that the trait is (ominant but not 1%%= penetrant. b. Assuming this is a dominant but not completely penetrant trait, in(ivi(uals 22-3 an( 222-6 in the 4miths; pe(igree in(ivi(ual an( 22-6 in the >e,,ersons; pe(igree must carry the dominant allele but not express it in their phenotypes. c. +f the trait were common, recessive inheritance is the more li0ely mode of inheritance. d. ?one% in cases where two unaffected parents have an affected child, both parents would be carriers of the recessive trait.

33

Chapter 3

3-19. +f polycystic 0idney disease is dominant, then the child is Pp and inherited the P disease allele from one parent or the other, yet phenotypically the parents are pp. /erhaps one of the parents is indeed Pp, but this parent does not show the disease phenotype for some reason. As we will see in the next chapter, such situations are not uncommon$ the unexpressed dominant allele is said to have incomplete penetrance in these cases. Alternatively, it could be that both parents are indeed pp and the P allele inherited by the child was due to a spontaneous mutation during the formation of the gamete in one of the parents% again, we will discuss this topic in the next chapter. +t is also possible that the ,ather o, the chil( is not the male parent o, the couple. +n this case the biological father must have the disease. Section 3.2 Multifactorial Extensions to Mendel 3-2%. The cross is$ walnut x single I *) walnut x *) walnut I '3 walnut $ 2' rose $ 32 pea $ )) single a. 3"O=) ( four *2 phenotypes means there are 2 genes, A and B. ,oth genes affect the same structure, the comb. The *2 phenotypic dihybrid ratio among the progeny is close to '$3$3$), so there is no epistasis. ,ecause walnut is the most abundant * 2 phenotype, it must be the phenotype due to the A- B- genotype. !ingle combs are the least freCuent class, and are thus aa bb. Eow assign genotypes to the cross. +f the walnut *2 are A- B-, then the original walnut parent must have been AA BB$ AA BB x aa bb - Aa Bb 'walnut) - 9&16 A- B- 'walnut) * 3&16 A- bb 'rose) * 3&16 aa B- 'pea) * 1&6 aa bb 'single). b. <iagram the cross, recalling that the problem states the parents are homo2ygous$ AA bb 'rose) x aa BB 'pea) - Aa Bb 'walnut) - 9&16 A- B- 'walnut) * 3&16 A- bb 'rose) * 3&16 aa B- 'pea) * 1&6 aa bb 'single). This *2 is in identical proportions as the *2 generation in part a. The Cuestion in the boo0 is a little confusing in that it as0s the same thing twice in this part. c. <iagram the cross$ A- B- walnut# x aa B- pea# - )2 A- B- walnut# $ )) aa B- pea# $ 3 A- bb rose# $ 5 aa bb single#. ,ecause there are pea and single progeny, you 0now that the walnut parent must be Aa. The ) A( $ ) aa monohybrid ratio in the progeny also tells you the walnut parent must have been Aa. ,ecause some of the progeny are single, you 0now that both parents must be Bb. +n this case, the monohybrid ratio for the B gene is 3 B( $ ) bb, so both parents were Bb. The original cross must have been Aa Bb x aa Bb. Pou can verify that this cross would yield the observed ratio of progeny by multiplying the probabilities expected for each gene alone. *or example, you anticipate that )42 the progeny would be Aa and 345 of the progeny would be Bb, so

Chapter 3

35

)42 x 345 3 34J of the progeny should be walnut% this is close to the )2 walnut chic0ens seen among 3K total progeny. d. <iagram the cross$ A- B- walnut# x A- bb rose# - all A- B- walnut#. The progeny are all walnut, so the walnut parent must be BB. Eo pea progeny are seen, so both parents cannot be Aa, so one o, the two parents must be AA. This could be either the walnut or the rose parent or both. 3-21. blac0 x chestnut I bay I blac0 $ bay $ chestnut $ liver *our phenotypes in the *2 generation means there are two genes determining coat color. The *) bay animals produce four phenotypic classes, so they must be doubly hetero2ygous, Aa Bb. Crossing a liver colored horse to either of the original parents resulted in the parent9s phenotype. The liver horse9s alleles do not affect the phenotype, suggesting the recessive genotype aa bb. Though it is probable that the original blac0 mare was AA bb and the chestnut stallion was aa BB, each of these animals only produced 3 progeny, so it cannot be definitively concluded that these animals were homo2ygous for the dominant allele they carry. Thus, the blac+ mare was A- bb. the chestnut stallion was aa B-, an( the F1 bay animals are Aa Bb. The F2 horses were* bay 'A- B-). liver 'aa bb). chestnut 'aa B-). an( blac+ 'A- bb). 3-22. a. ,ecause unaffected individuals had affected children, the trait is recessive. *rom affected individual ++(), you 0now the mutant allele is present in this generation. The trait was passed on through ++(2 who was a carrier. All children of affected individuals +++(2 x +++(3 are affected, as predicted for a recessive trait. >owever, generation R seems inconsistent with recessive inheritance of a single gene. This result is consistent with two different genes involved in hearing with a defect in either gene leading to deafness. The two ,amily lines shown contain mutations in two separate genes. an( the mutant alleles o, both genes (etermining (ea,ness are recessive. b. +ndividuals in generation R are doubly hetero2ygous Aa Bb#, having inherited a dominant and recessive allele of each gene from their parents aa BB x AA bb#. The people in generation R are not affected because the pro(uct o, the (ominant allele o, each gene is su,,icient ,or normal ,unction. This is an example of the complementation of two genes. 3-23. green x yellow I green I ' green $ 6 yellow a. Two phenotypes in the *2 generation could be due to one gene or to two genes with epistasis. +f this is one gene, then ++ x ,, I +, I 345 +( green# $ )45 ,, yellow#. The actual result is a '$6 ratio, not a 3$) ratio. '$6 is an epistatic variant of the '$3$3$) phenotypic dihybrid ratio, so there are 2 genes controlling color. The genotypes are$

3:

Chapter 3

AA BB 'green) x aa bb 'yellow) - Aa Bb 'green) - 9&16 A- B- 'green) * 3&16 A- bb 'yellow) * 3&16 aa B- 'yellow) * 1&16 aa bb 'yellow). b. F1 Aa Bb x aa bb - 1&$ Aa Bb 'green) * 1&$ aa Bb 'yellow) * 1&$ Aa bb 'yellow) * 1&$ aabb 'yellow) @ 1&$ green * 3&$ yellow. 3-2$. a. white x white I *) white I )2; white $ 33 purple 3"O=) ( At first glance this cross seems to involve only one gene, as true breeding white parents give white *)s. >owever, if this were true, then the *2 -1!T be totally white as wellG The purple *2 plants show that this cross is EDT controlled by ) gene. These results must be (ue to 2 genes. What ratio is )2; $ 33? 1sually when you are given raw numbers of individuals for the classes, you divide through by the smallest number, yielding in this case 3.J white $ ) purple. This is neither a recogni2able monohybrid nor dihybrid ratio. <ividing through by the smallest class is EDT the correct way to convert raw numbers to a ratio. +n crosses controlled by 2 genes there must be ); genotypes in the *2 progeny, even though the phenotypes may not be distributed in the usual '4); $ 34); $ 34); $ )4); ratio. +f the ):' * 2 progeny are divided eCually into ); genotypes, then there are ):'4); 3 S)K * 2 plants4genotype. The )2; white *2s therefore represent )2;4)K 3 )3 of these genotypes. 7i0ewise the 33 purple plants represent 334)K 3 3 genotypes. The correct *2 dihybrid phenotypic ratio is thus )3 white $ 3 purple. Pou can now assign genotypes to the parents in the cross. ,ecause the parents are homo2ygous true(breeding# and there are 2 genes controlling the phenotypes, there are two possible ways to set up the genotypes of the parents. Dne option is$ AA BB 'white) x aa bb 'white) - Aa Bb 'white. same as AA BB parent) - 9 A- B- 'white) * 3A- bb 'un+nown phenotype) * 3aa B'un+nown phenotype) * 1 aa bb 'white. same as aa bb parent). +f you assume that A( bb is white and aa B( is purple or vice versa#, then this is a match for the observed data presented in the cross above ' L 3 L ) 3 )3 white $ 3 purple#. Alternatively, you could try to diagram the cross as AA bb x aa BB I Aa Bb whose phenotype is un0nown as this is EDT a genotype seen in the parents# I ' A(B( same un0nown phenotype as in the *)# $ 3 A( bb white li0e the AA bb parent# $ 3aa B( white li0e the aa BB parent# $ ) aa bb un0nown phenotype#. !uch a cross cannot give an *2 phenotypic ratio of )3 white $ 3 purple. The only *2 classes that could be purple are A( B(, but this is impossible because it is too large and because the *) flies must then have been purple, or the aa bb class which is too small. Therefore, the first set of possible genotypes written in bold above# is the best fit for the observed data. b. white *2 x self white *2 I 345 white $ )45 purple. Assume that the aa B( class is purple in part a above. A 3$) monohybrid ratio means the parents are both hetero2ygous for one gene with purple

Chapter 3

3;

due to the recessive allele. The second gene is not affecting the ratio, so both parents must be homo2ygous for the same allele of that gene. Thus the cross must be$ Aa BB white# x Aa BB white self cross# I 345 A( BB white# $ )45 aa BB purple#. c. purple *2 x self I 3 purple $ ) white. Again, the selfed parent must be hetero2ygous for one gene and homo2ygous for the other gene. ,ecause purple is aa B-, the genotypes of the purple *2 plant must be aa Bb. d. white *2 x white *2 not a self cross# I )42 purple $ )42 white. The )$) monohybrid ratio means a test cross was done for one of the genes. The second gene is not altering the ratio in the progeny, so the parents must be homo2ygous for that gene. +f purple is aa B(, then the genotypes of the parents must be aa bb 'white) x Aa BB 'white) I )42 Aa Bb white# $ )42 aa Bb purple#. 3-2#. <ominance relationships are between alleles of the same gene. 5nly one gene is involve( when consi(ering (ominance relationships. Apistasis involves two genes. The alleles of one gene affect the phenotypic expression of the second gene. 3-26. a. Aa Bb x Aa Bb I ' A( B( $ 3 A( bb $3 aa B( $ ) aa bb !ince the defect in en2yme is only seen if both genes are defective, only aa bb will result in abnormal progeny, giving a phenotypic dihybrid ratio of 1# normal * 1 abnormal. b. Aa Bb )c x Aa Bb )c I the dihybrid ratio for A and B is ' A( B( $ 3 A( bb $3 aa B( $ ) aa bb% while the monohybrid ratio for ) is 3 )( $ ) cc. 1se the product rule to generate the expected phenotypic trihybrid ratio. &emember that the only abnormal genotype will be aa bb cc, which will occur with a probability of )4); x )45 3 )4;5. The expected phenotypic trihybrid ratio is thus 63&6$ normal * 1&6$ abnormal. 3-2". IAIB Ss x IAIA Ss I expected monohybrid ratio for the I gene of )42 IAIA $ )42 IAIB% expected ratio for the S gene considered alone of 345 S( $ )45 ss. 1se the product rule to generate the phenotypic ratio for both genes considered together and then assign phenotypes, remembering that all individuals with the ss genotype loo0 li0e type D. The phenotypic ratio for both genes is$ 34J IAIA S( $ 34J IAIB S( $ )4J IAIA ss $ )4J IAIB ss 3 34J A $ 34J A, $ )4J D $ )4J D 3 3&! Type 6 * 3&! Type 67 * 2&! Type 5.

36

Chapter 3

3-2!. The difference between pleiotropic mutations and traits determined by several genes would be seen if crosses were done using pure(breeding plants wild type x mutant#, then selfing the * ) progeny. +f several genes were involved there woul( be several (i,,erent combinations o, the petal color. mar+ings an( stem position phenotypes in the *2 generation. +f all 3 traits were due to an allele present at one gene, the three phenotypes woul( always be inherite( together and the *2 plants would be either yellow, dar0 brown, erect D& white, no mar0ings and prostrate. 3-29. a. blood types$ 2-1 67 2-2 6 2-3 7 2-$ 67 22-1 5 22-2 5 22-3 67 222-1 6 222-2 5 . b. genotypes$ 2-1 Hh IAIB 2-2 Hh IAi 'or IAIA) 2-3 H- IBIB 'or IBi) 2-$ H- IAIB 22-1 H- ii 22-2 hh IAIA 'or IAi or IAIB) 22-3 Hh IAIB 222-1 Hh IAi 222-2 hh IAIA 'or IAIB or IAi or Ibi or IBIB) At first glance, you find inconsistencies between expectations and what could be inherited from a parent. *or example, +() A,# +(2 A# could not have an D child ++(2#. The epistatic h allele which causes the ,ombay phenotype# could explain these inconsistencies. +f ++(2 has an D phenotype because she is hh, her parents must both have been Hh. The ,ombay phenotype would also explain the second seeming inconsistency of two D individuals ++() and ++(2# having an A child. ++(2 could have received an A allele from one of her parents and passed this on to +++() together with one h allele. /arent ++() would have to contribute the H allele so that the A allele would be expressed% the presence of H means that ++() must also be ii in order to be type D. A third inconsistency is that individuals ++(2 and ++(3 could not have an ii child since ++(3 has the IAIB genotype, but +++(2 has the D phenotype. This could also be explained if ++(3 is Hh and +++(2 is hh. 3-3%. a. <iagram one of the crosses$ white() x white(2 I red *) I ' red $ 6 white "ven though there are only 2 phenotypes in the *2, this is not controlled by one gene ( the '$6 ratio shows that this is an epistatic variation of '$3$3$), so there are 2 genes controlling these phenotypes. +ndividuals must have at least one dominant allele of both genes in order to get the red color. Thus the genotypes of the two white parents in this cross are aa BB x AA bb. The same conclusions hold for the other 2 crosses. +f white() is mutant in gene A and white(2 is mutant in gene B, then white(3 must be mutant in gene ). Therefore, three genes are involve(. b. Bhite-1 is aa BB CC white-2 is AA bb CC an( white-3 is AA BB cc. c. aa BB CC 'white-1) x AA bb CC 'white-2) - Aa Bb CC 're() - 9&16 A- B- CC 're() * 3&16 A- bb CC 'white) * 3&16 aa B- CC 'white) * 1&6 aa bb CC 'white).

Chapter 3

3J

3-31. <iagram the cross. *igure out an expected monohybrid ratio for each gene separately, then apply the product rule to generate the expected dihybrid ratio. Also recall that the albino phenotype is epistatic to all other coat colors. AyA )c x AyA cc I monohybrid ratio for the A gene alone$ )45 AyAy dead# $ )42 AyA yellow# $ )45 AA agouti# 3 243 AyA yellow# $ )43 AA agouti#% monohybrid ratio for the ) gene$ )42 )c non(albino# $ )42 cc albino#. Dverall there will be 24; AyA )c yellow# $ 24; AyA cc albino# $ )4; AA )c agouti# $ )4; AA cc albino# 3 2&6 AyA Cc 'yellow) * 3&6 -- cc 'albino) * 1&6 AA Cc 'agouti). 3-32. a. ?o, a single gene cannot account for this result. While the )$) ratio seems li0e a testcross, the fact that the phenotype o, one class o, o,,spring 'linear) is not the same as either o, the parents argues against this being a testcross. b. The appearance of four phenotypes means two genes are controlling the phenotypes. c. The 3$) ratio suggests that two alleles o, one gene determine the difference between the wild(type and scattered patterns. d. The true(breeding wild(type fish are homo2ygous by definition, and the scattered fish have to be homo2ygous recessive according to the ratio seen in part c, so the cross is$ bb 'scattere() x BB 'wil( type) - F1 Bb 'wil( type) - 3&$ B- 'wil( type) * 1&$ bb 'scattere(). e. The inability to obtain a true(breeding nude stoc0 suggests that the nude fish are hetero2ygous Aa# and that the AA genotype (ies. Thus Aa 'nu(e) x Aa 'nu(e) - 2&3 Aa 'nu(e) * 1&3 aa 'scattere(). f. 8oing bac0 to the linear cross from part b, the fact that there are four phenotypes led us to propose two genes were involved. The ;$3$2$) ratio loo0s li0e an altered '$3$3$) ratio in which some genotypes may be missing, as predicted from the result in part e that AA animals do not survive. The '$3$3$) ratio results from crossing double hetero2ygotes, so the linear parents are (oubly hetero/ygous Aa Bb. The lethal phenotype associate( with the AA genotype pro(uces the 6*3*2*1 ratio. The phenotypes an( correspon(ing genotypes o, the progeny o, the linear x linear cross are* 6 linear. Aa B- * 3 wil(-type. aa B- * 2 nu(e. Aa bb * 1 scattere(. aa bb. Eote that the AA BB, AA Bb, AA Bb, and AA bb genotypes are missing due to lethality. 3-33. a. ,ased upon the Comprehensive "xample in the textboo0 at the end of Chapter 3, we can deduce some information about the genotypes of the parents from their phenotypes. The rest we have to deduce based on the phenotypes of the progeny. The yellow parent must have an Ay allele, but we don9t 0now the second allele of the A gene Ay(#. Ay is epistatic to the B gene so we don9t 0now

3'

Chapter 3

what alleles this yellow mouse has at the B gene we9ll leave these alleles as --#. !ince this mouse does show color we 0now it is not cc albino#, so it must have at least one ) allele )(#. The brown agouti parent has at least one A allele A (#% it must be bb at the B gene% and since there is color it must also be )-. The mating between these two can be represented as Ay- -- )- x A- bb )-. Eow consider the progeny. ,ecause one pup was albino cc#, the parents must both be )c. A brown pup bb# indicates that both parents had to be able to contribute a b allele, so we now 0now the first mouse must have had at least one b allele. The fact that this brown pup was non(agouti means both parents carried an a allele. The blac0 agouti progeny tells us that the first mouse must have also had a B allele but it was yellow because Ay is epistatic to B#. The complete genotypes of the mice are therefore$ Aya Bb Cc x Aa bb Cc. b. Thin0 about each gene individually, then the effect of the other genes in combination with that phenotype. )- leads to a phenotype with color% cc gives albino which is epistatic to all colors determined by the other genes#. The possible genotypes of the progeny of this cross for the A gene are AyA, Aya, Aa and aa, giving yellow, yellow, agouti and non(agouti phenotypes, respectively. !ince yellow is epistatic to B, non(albino mice with Ay will be yellow regardless of the genotype of the B gene. Aa is agouti% with the aa genotype there is no yellow on the hair non(agouti#. The type of coloration depends on the B gene. *or B the offspring could be Bb blac0# or bb brown#. +n total, six (i,,erent coat color phenotypes are possible* albino '-- -- cc). yellow 'Ay'A or a) -- C), brown agouti 'A- bb C-). blac+ agouti 'A- B- C-). brown 'aa bb C-). blac+ 'A- B- C-). These are the same genotypes. 3-3$. +n Figure 3.22 the A. and B. alleles are non(functional. The A! and B! alleles each have the same effect on the phenotype plant height in this example#. Thus, the shortest plants are A.A.B.B., and the tallest plants are A!A!B!B!. The phenotypes are (etermine( by the total number o,r A an( B alleles in the genotype. Thus, A!A.B.B. plants are the same phenotype as A.A.B.B!. +n total there will be : different phenotypes$ 5 9K9 alleles total 3 K#% ) 9)9 allele L 3 9K9 alleles total 3 )#% 2 9)9 alleles L 2 9K9 alleles total 3 2#% 3 9)9 alleles L ) 9K9 allele total 3 3#% and 5 9)9 alleles total 3 5#. +n Figure 3.1" the a allele 3 b allele 3 no function in this case no color 3 white#. +f the A allele has the same level of function as a B allele then you would see : phenotypes as was the case for Figure 3.22b. ,ut since there are a total of ' phenotypes, this cannot be true so ATB. Eotice that aa Bb is lighter than Aa bb even though both genotypes have the same number of dominant alleles. Thus an A allele has more e,,ect on coloration than a B allele. +f you assume, for example, that B 3 ) unit of color and A 3 ).: unit of color, then ); genotypes lead to ' phenotypes.

Chapter 3

5K

3-3#. a. Aa Bb )c x Aa Bb )c I '4); A- B- x 345 )( $ '4); A( B( x )45 cc $34); A( bb x 345 )( $ 34); A( bb x )45 cc$ 34); aa B( x 345 )- $34); aa B( x )45 cc $ )4); aa bb x 345 )( $ )4); aa bb x )45 cc 3 264;5 A( B( )( wild type# $'4;5 A( B( cc $ '4;5 A( bb )( $ 34;5 A( bb cc $ '4;5 aa B()( $ 34;5 aa B(cc $ 34;5 aa bb )( $ )4;5 aa bb cc 3 2"&6$ wil(type * 3"&6$ mutant. b. <iagram the crosses$ ). un0nown male x AA bb cc I )45 wild type A( B( )(# $ 345 mutant 2. un0nown male x aa BB cc I )42 wild type A( B( )(# $ )42 mutant 3. un0nown male x aa bb )) I )42 wild type A( B( )(# $ )42 mutant The )$) ratio in test crosses 2 and 3 is expected if the un0nown male is hetero2ygous for one of the genes that are recessive in the test cross parent. The ) wild type $ 3 mutant ratio arises when the male is hetero2ygous for two of the genes that are homo2ygous recessive in the test cross parent. +f you apply the product rule to )42 B( $ )42 bb and )42 )( $ )42 cc in the first cross, then you find )45 B- )-, )45 B- cc, )45 bb )-, and )45 bb cc. Dnly B- )- will be wild type, the other 3 classes will be mutant#. Thus the un0nown male must be Bb )c. +n test cross ) the male could be either AA or aa. Crosses 2 and 3 show that the male is only hetero2ygous for one of the recessive genes in each case ( gene ) in test cross 2 and gene B in test cross 3. +n order to get wild type progeny in both crosses, the male must be AA. Therefore the genotype of the un0nown male is AA Bb Cc. 3-36. a. Answer 3"O=) and =2 for all : crosses. Cross ) ( ) gene, red.blue. Cross 2 ( ) gene, lavender.blue. Cross 3 ( ) gene, codominance4incomplete dominance )$2$)#, bron2e is the phenotype of the hetero2ygote. Cross 5 ( 2 genes with epistasis ' red $ 5 yellow $ 3 blue#. Cross : ( 2 genes with epistasis ' lavender $ 5 yellow $ 3 blue#. 2n total there are 2 genes. 5ne gene controls blue 'cb). re( 'cr) an( laven(er 'cl) where cr @ cl 8 cb. The secon( gene controls the yellow phenotype* ! seems to be colorless 'or has no e,,ect on color). so the phenotype is (etermine( by the alleles o, the c gene. The y allele ma+es the ,lower yellow. an( is epistatic to the c gene. b. cross 1 1 crcr !! 're() x cbcb !! 'blue) - crcb !! 're() - 3&$ cr- !! 're() * 1&$ cbcb !! 'blue) cross 2 1 clcl !! 'laven(er) x cbcb !! 'blue) - clcb !! 'laven(er) - 3&$ cl- !! 'laven(er) * 1&$ cbcb !! 'blue) cross 3 1 clcl !! 'laven(er) x crcr !! 're() - clcr !! 'bron/e) - 1&$ clcl !! 'laven(er) * 1&2 clcr !! 'bron/e) * 1&$ crcr !! 're() cross $ 1 crc r!! x cbcb yy 'yellow) - crcb !y 're() - 9&16 cr- !- 're() * 3&16 cr- yy 'yellow) * 3&16 cbcb !- 'blue )* 1&16 cbcb yy 'yellow)

5)

Chapter 3

cross #- clcl yy 'yellow) x cbcb !! 'blue) - clcb !y 'laven(er) - 9&16 cl- !- 'laven(er) * 3&16 cl- yy 'yellow) * 3&16 cbcb !- 'blue) * 1&16 cbcb yy 'yellow) c. crcr yy yellow# x clcl // lavender# I crcl /y bron2e# I monohybrid ratio for the c gene is )45 crcr $ )42 crcl $ )45 clcl and monohybrid ratio for the / gene is 345 /( $ )45y. 1sing the product rule, these generate a dihybrid ratio of 3&16 crcr !- 're() * 3&! crcl !- 'bron/e) * 3&16 clcl !'laven(er) * 1&16 crcr yy 'yellow) * 1&! crcl yy 'novel genotype) * 1&16 clcl yy 'yellow). Pou expect the crcl yy genotype to be yellow as y is normally epistatic to the c gene. >owever, you have no direct evidence from the data in any of these crosses that this will be the case, so it is possible that this genotype could cause a different and perhaps completely new phenotype. 3-3". a. Analy2e each cross by answering 3"O=) and =2. +n cross ) F there are 2 genes because there are 3 classes in the *2 showing an epistatic )2$)$3 ratio, and 7& is the doubly homo2ygous recessive class. +n cross 2 F only ) gene is involved because there are 2 phenotypes in a 3$) ratio% W&.<&. +n cross 3 F again, there is only ) gene 2 phenotypes in a )$3 ratio#% <&.7&. +n cross 5 ( ) gene 2 phenotypes, with a 3$) ratio#% W&.7&. +n cross : ( 2 genes as in cross ), there is a )2$)$3 ratio of three classes#% 7& is the double homo2ygous recessive. +n total, there are 2 genes controlling these phenotypes in ,oxgloves. b. &emember that all four starting strains are true(breeding. +n cross ) the parents can be assigned the following genotypes$ AA BB 'B0-1) x aa bb 'C0) I Aa Bb W&# I ' A( B( W&# $ 3 A( bb W&% this class displays the epistatic interaction# $ 3 aa B( <&# $) aa bb 7&#. The results of cross 2 suggested that <& differs from W&() by one gene, so D0 is aa BB% cross 3 confirms these genotypes for <& and 7&. Cross 5 introduces W&(2, which differs from 7& by one gene and differs from <& by 2 genes, so B0-2 is AA bb. Cross : would then be AA bb W&(2# x aa BB <&# I Aa Bb W&# I ' A( B( W&# $ 3 A( bb W&# $ 3 aa B( <&# $ ) aa bb 7&# 3 )2 W& $ 3 <& $ ) 7&. c. W& from the *2 of cross ) x 7& I 2:3 W& $ )25 <& $ )23 7&. &emember from part b that 7& is aa bb and <& is aa B( while W& can be either A( B( or A( bb 3 A( --. The experiment is essentially a test cross for the W& parent. The observed monohybrid ratio for the A gene is )42 Aa $ )42 aa 2:3 Aa $ )25 L )23 aa#, so the W& parent must be Aa. The <& and 7& classes of progeny show that the W& parent is also hetero2ygous for the B gene <& is Bb and 7& is bb in these progeny#. Thus, the cross is Aa Bb 'B0) x aa bb 'C0).

Chapter 3

52

3-3!. The hairy x hairy I 243 hairy $ )43 normal cross tells us that the hairy flies are hetero2ygous, that the hairy phenotype is dominant to normal, and that the homo2ygous hairy progeny are lethal that is, hairy is a recessive lethal#. Thus, hairy is Hh, normal is hh, and the lethal genotype is HH. Eormal flies therefore should be hh 'normal-1) and a cross with hairy Hh# would be expected to always give )42 Hh hairy# $ )42 hh normal# as seen in cross ). +n cross 2, the progeny -1!T for the same reasons be )42 Hh $ )42 hh, yet they A77 appear normal. This suggests the normal(2 stoc0 has another mutation that suppresses the hairy wing phenotype in the Hh progeny. The hairy parent must have the recessive alleles of this suppressor gene ss#, while the normal(2 stoc0 must be homo2ygous for the dominant allele SS# that suppresses the hairy phenotype. Thus cross 2 is hh SS 'normal-2) x Hh ss hairy# I )42 Hh Ss normal because hairy is suppressed# $ )42 hh Ss normal#. +n cross 3, the normal( 3 parent is hetero2ygous for the suppressor gene$ hh Ss 'normal-3) x Hh ss hairy# I the expected ratios for each gene alone are )42 Hh $ )42 hh and )42 Ss $ )42 ss, so the expected ratio for the two genes together is )45 Hh Ss normal# $ )45 Hh ss hairy# $ )45 hh Ss normal# $ )45 hh ss normal# 3 345 normal $ )45 hairy. +n cross 5 you see a 243 $ )43 ratio again, as if you were crossing hairy x hairy. After a bit of trial(and(error examining the remaining possibilities for these two genes, you will be able to demonstrate that this cross was Hh Ss 'normal-$) x Hh ss hairy# I expected ratio for the individual genes are 243 Hh $ )43 hh and )42 Ss $ )42 ss, so the expected ratio for the two genes together from the product rule is 24; Hh Ss normal# $ 24; Hh ss hairy# $ )4; hh Ss normal# $ )4; hh ss normal# 3 243 normal $ )43 hairy. 3-39. <iagram the cross$ 0! ! 0# # $ $ x ! ! 0# # 0$ $ I calculate the expected monohybrid ratios for each gene here we consider only the phenotype for each of the three genes for simplicity rather than the corresponding genotypes#$ )42 0! $ )42 !% 345 0# $ )45 #% )42 0$ $ )42 $. 1se the product rule to determine the expected dihybrid ratio for <) and <2 3 34J 0! 0# $ )4J 0! # $ 34J ! 0# $ )4J ! #. Then multiply in the third gene to obtain the expected trihybrid ratio considering all three genes simultaneously 3 34); 0! 0# 0$ normal# $ 34); 0! 0# $ deaf ) gene# $ )4); 0! # 0$ deaf ) gene# $ )4); 0! # $ deaf 2 genes# $ 34); ! 0# 0$ deaf ) gene# $ 34); ! 0# $ deaf 2 genes# $ )4); ! # 0$ deaf 2 genes# $ )4); ! # $ deaf 3 genes#. The totals are 34); normal $ 64); deaf due to ) gene $ :4); deaf due to 2 genes $ )4); deaf due to 3 genes. Eow apply the product rule to account for the incompletely penetrant lethality for those mutant at 2 or 3 of the genes. *or the double mutant individuals, )45 die and 345 are alive and deaf. Thus :4); double mutant x 345 alive and deaf 3 ):4;5 live deaf children with double mutations. *or the triple mutant individuals 345 die and )45 are alive and deaf. Thus )4); triple mutant x )45 alive and deaf 3 )4;5 live, deaf triple mutants. +n total, there are 34); normal L 64); single mutant deaf L ):4;5 live double mutant deaf L )4;5 live triple mutant deaf children 3 )24;5 normal L 2J4;5 single mutant deaf L ):4;5 double mutant deaf L )4;5

53

Chapter 3

triple mutant deaf 3 :;4;5 live children and J4;5 dead fetuses. Df the live(born children, $$&#6 woul( be (ea,. This means that there is a "!.6= chance that any live-born chil( o, these two parents woul( be (ea,.