Chapter 2

Chapter 2

Mendel's Breakthrough: Patterns, Particles and Principles of Heredity

Synopsis:
Chapter 2 covers the basic principles of inheritance, first described by Mendel, that form the foundation of the Laws of Segregation and Independent Assortment !ou will see in chapter " how these laws relate to chromosome segregation during meiosis Chapter 2 contains most of the essential terminology used to describe inheritance !ou should become very familiar with and fluent in the use of these terms because they will be used in increasingly sophisticated ways in subse#uent chapters A good way to assure that you have a solid grasp of the meanings of the new terms is to pretend you are describing each word or phenomenon to a friend or relative who is not a science ma$or %ften giving an e&ample of each term is useful 'he first problem at the end of the chapter is also a useful gauge of how well you (now these terms A few of the terms defined in this chapter are very critical yet often misunderstood Learn to be precise about the way in which you use these terms) genes and alleles of genes * a gene determines a trait+ and there are different alleles or forms of a gene 'he color gene in pea has two alleles) the yellow allele and the green allele+ genotype and phenotype * genotype is the genetic ma(eup of an organism ,written as alleles- and phenotype is what the organism loo(s li(e+ homozygous and heterozygous * when both alleles of a gene are the same, we say the organism is homo.ygous for that gene+ if the two alleles are different, the organism is hetero.ygous+ dominant and recessive * the dominant allele is the one that controls the phenotype in the hetero.ygous genotype

Significant Elements:
After reading the chapter and thin(ing about the concepts you should be able to)

/emember there are two alleles of each gene when describing genotypes of individuals If you are describing gametes remember there is only one allele of each gene per gamete /ecogni.e if a trait is dominant or recessive by considering the phenotype of the 01 generation /ecogni.e ratios) ,i- in the Study 1uide monohybrid ratio refers to any ratio involving one gene, e g the phenotypic monohybrid ratio from a cross between two individuals hetero.ygous for one gene ,2 dominant )1 recessive-+

Chapter 2

,ii- in the Study 1uide dihybrid ratio refers to any ratio involving two genes, for e g a phenotypic dihybrid ratio from a cross between two individuals hetero.ygous for two genes ,3)2)2)1

/ecogni.e the need for and be able to set up a test cross 4etermine probabilities using the basic rules of probability) ,i- Product rule: If two outcomes must occur together, the probability of one outcome A54 the other occurring is the product of the two individual probabilities ,'he final outcome is the result of two independent events - So, the probability of getting a " on one die A54 a " on the second die is the product of the two individual probabilities ,ii- Sum rule: If there is more than one way in which an outcome can be produced, the probability of either one %/ the other occurring is the sum of the individual probabilities In this case, the outcomes are mutually e&clusive

4raw and interpret pedigrees as in Figures 2.21and 2.22 using the helpful information and hints found in Figure 2.20 and Table 2.2 Set up 6unnett s#uares by determining the gametes produced by the parents and the probabilities of the potential offspring as in Figures 2.11 and 2.15 7se and interpret branched line diagrams as in Figure 2.17 and 6roblem 2*2"a

Problem Solving - How to Begin:

As you wor( on problems in the first few chapters, you will begin to recogni.e some similarities in the type of problem 'he ma$ority of problems in the first few chapters involve genetic crosses It is best to 89 C%5SIS'95' in your approach and formatting to solve such problems 'o begin, rewrite the information given in a format that will be useful in solving the problem) in other words, learn to 4IA1/AM ':9 C/%SS phenotype of one parent x phenotype of other parent phenotype(s) of progeny 'he goal is to assign genotypes to the parents then use these predicted genotypes to generate genotypes, phenotypes and ratios of progeny If the predicted progeny match the observed data you were given in the problem then the genetic e&planation you have created is correct

7se the THREE ESSENTIAL QUESTIONS to determine basic information about the genotypes and;or phenotypes of the parents and;or offspring 'hese #uestions are distilled from many years of helping students figure out how to solve problems 'hey are designed to force you to focus on the underlying genetic basis of the information in a problem 9ach of the #uestions has an identifying characteristic that helps you answer the #uestion * see the Hints for an idea of what sort of information allows you to formulate specific answers As you go through further chapters the Hints will be further refined

Chapter 2

THREE ESSENTIAL QUESTIONS (3EQ):

1 :ow many genes are involved in the cross< 2 0or each gene involved in the cross) what are the phenotypes associated with the gene< =hich phenotype is the dominant one and why< =hich phenotype is the recessive one and why< >2 0or each gene involved in the cross) is it ?*lin(ed or autosomal<@ At this point, only #uestions 3EQ A1 and 3EQ A2 may be applied 'he material that is the basis of #uestion 3EQ A2 will be covered in Chapter " Hints: 0or 3EQ A1 loo( for the number of different phenotypes or phenotypic classes in the progeny In Chapter 2 each gene has only 2 phenotypes 0or 3EQ A2 if the parents of a cross are true*breeding, loo( at the phenotype of the 01 individuals 'heir genotype must be hetero.ygous, and their phenotype is thus controlled by the dominant allele of the gene Also, loo( at the 02 progeny B the 2;" portion of the 2)1 phenotypic monohybrid ratio is the dominant one

Solutions to Problems:
Vocabulary 2 1. a !+ b "+ c #+ d 7+ e 11+ f 1"+ g 10+ h 2+ i 1!+ $ $+ ( 12+ l %+ m 5+ n 1 Section 2.1 - Background 2 2. 6eople held t&o basic 'isconceptions about inheritance 0irstly, it was believed that one parent contributes the 'ost to an offspringCs inherited features Second was the idea of blended inheritance * the parental traits become mi&ed and forever changed in the offspring 2 ". 'here are se(eral ad(antages to using peas for the study of inheritance (1) )eas ha(e a fairly rapid generation ti'e ,at least two generations per year if grown in the field, three or four generations per year if grown in greenhouses- (2) )eas can either self fertili*e or be artificially crossed by an e&perimenter (") )eas produce large nu'bers of offspring ,hundreds per parent- (!) )eas can be 'aintained as pure breeding lines, simplifying the ability to perform subse#uent crosses (5) +ecause peas ha(e been 'aintained as inbred stoc,s- t&o easily distinguished- discrete for's of 'any phenotypic traits are ,no&n. (#) )eas are easy and inexpensi(e to gro&

"

Chapter 2

In contrast, studying genetics in hu'ans has se(eral disad(antages (1) The generation ti'e of hu'ans is long ,roughly 2D years- (2) There is no self fertili*ation in hu'ans- and it is not ethical to 'anipulate crosses. (") .u'ans produce only a s'all nu'ber of offspring per 'ating ,usually one- or per individual ,almost always less than 2D- (!) /lthough people that are ho'o*ygous for a trait (analogous to pure breeding) exist- ho'o*ygosity cannot be 'aintained because mating with another individual is needed to produce the ne&t generation (5) +ecause hu'an populations are not inbred- 'ost hu'an traits sho& a continuu' of phenotypes+ only a few traits have two very distinct forms (#) )eople re0uire a lot of expensi(e care to 1gro&1. There is nonetheless one ad(antage to the study of genetics in hu'ans 8ecause many inherited traits result in disease syndromes, and because the worldCs population now e&ceeds E billion, a (ery large nu'ber of indi(iduals &ith (ariant phenotypes can be recogni*ed. Thus- the nu'ber of genes identified in this &ay is rapidly increasing Section 2.2 Genetic Analysis According to Mendel 2 !. a. 'wo phenotypes are seen in the second generation of this cross, normal and albino 'hus there is one gene controlling the phenotypes in this cross ,29FA1- 'o answer 29FA2 note that the phenotype of the first generation progeny is normal color and that in the second generation there is a ratio of 2 normal ) 1 albino 8oth of these prove that allele controlling the nor'al phenotype is do'inant to the allele controlling the albino phenotype b

'est cross e s are cross e s betw e e n an orga nis m in which ther e is inter e s t and an orga nis m that is homo.yg o u s rece s siv e for all the gen e s of inter e s t 'he ' al e par e n t is albino and mus t hav e the aa geno t yp e 'he nor ' a ll y col or e d off s p ri n g mus t receive an A allele from the moth e r, so their genot yp e is Aa + th e albin o off s p ri n g mus t receive an a allele from the mot h e r, so their geno t yp e is aa 'herefor e th e fe ' a l e par e n t is h e t e r o * y g o u s Aa

2 5. 8ecause two phenotypes result from the mating of two cats of the same phenotype, the short* haired parent cats must have been hetero.ygous 'he phenotype e&pressed in the hetero.ygotes ,the parent cats- is the dominant phenotype 'herefore, short hair is do'inant to long hair

Chapter 2

2 #. a 29F A1 is answered in the problem ,1 gene-+ 29F A2 is the #uestionH 'wo affected individuals have an affected child and a normal child 'his is not possible if the affected individuals were homo.ygous for a recessive allele conferring piebald spotting 'herefore, the piebald trait 'ust be the do'inant phenotype. b If the trait is dominant, the piebald parents could be either homo.ygous ,PP- or hetero.ygous ,Pp:owever, because the two affected individuals have an unaffected child (pp), they both 'ust be hetero*ygous (Pp). 4iagram the cross) Spotted & spotted I 1 spotted ) 1 normal Pp & PpI 1 Pp ) 1 pp

2 7. 4o a test cross between your normal winged fly ,W-- and a short winged fly that must be homo.ygous recessive ,ww- 'he possible results are diagrammed here+ the first genotype in each cross is that of the normal winged fly whose genotype was originally un(nown) WW x ww all W- (nor'al &ings) or Ww x ww 122 W- (nor'al &ings) 3 122 ww (short &ings)

2 %. 4iagram the crosses) closed & open I 01 open I 02 1"G open ) G3 closed 01 open & closed I J1 open ) KK closed The results of the crosses all fit the pattern of inheritance of a single gene- &ith the closed trait being recessi(e 'he first cross is a cross li(e Mendel did with his pure*breeding plants, although we donCt (now from the information provided if the starting plants were pure*breeding or not 'he 0 1 result of this cross shows that open is dominant The closed parent 'ust be ho'o*ygous for the recessi(e allele. +ecause only one phenotype is seen the F1 the open parent 'ust be the ho'o*ygous do'inant genotype 'hus the parental cucumber plants were indeed true*breeding homo.ygotes 'he self*fertili.ation of the 01 resulting in a ratio of " open 3 1 closed ratio sho&s that these phenotypes are controlled by one gene and that the F1 plants are all hetero*ygous 'he second cross is a test cross It confirms that the 01 plants from the first cross are hetero.ygous hybrids, because there is a 131 ratio of open and closed progeny 'hus, all the data is consistent with one gene with two alleles and open being the dominant trait

Chapter 2

2 $. 'he do'inant trait (short tail) is easier to eli'inate from the population by selective breeding 4ou can recogni*e e(ery ani'al that has inherited the short tail allele, because only one such dominant allele is needed to see the phenotype 5hort tailed 'ice can be pre(ented fro' 'ating 'he recessive dilute coat color allele, on the other hand, can be passed unrecogni.ed from generation to generation in hetero.ygous mice ,carriers- 'he hetero.ygous mice do not e&press the phenotype, so they cannot be distinguished from homo.ygous dominant mice with normal coat color %nly the homo.ygous recessive mice e&press the dilute phenotype and could be prevented from mating+ the hetero.ygotes could not 2 10. a In this problem, the first of the 3 Essential Questions ,29F A1- is answered for you ,there is only 1 gene-, as is 29F A 2 ,the dominant allele is dimple D and the recessive allele is nondimple d+ this dominance relationship will be symboli.ed in the form dimple D L nondimple d from now on 5e&t, diagram the cross In all cases, the male parent is written first for consistency nondimple & dimpled I proportion 01 with dimple< 'herefore) dd & DdM I 122 di'ple ) 1;2 nondimple ,M5ote that the dimpled woman in this cross had a dd >nondimple@ mother, so the womanCs genotype M7S' be hetero.ygous b dimpled & nondimple I nondimple 01 D? & dd I dd 8ecause they have a nondimple child ,dd-, the husband must also have a d allele to contribute to the offspring The husband has genotype Dd. c dimpled & nondimple I eight 01, all dimpled D? & dd I J D'he D allele in the children must come from their father 'he father could be either DD or Dd but it is 'ore probable that his genotype is DD =e cannot rule out the hetero.ygous genotype ,Dd:owever, the probability that all J children would inherit the D allele from a Dd parent is only ,1;2-J or 1;2GE 2 11. a 'he only unambiguous cross is) homo.ygous recessive & homo.ygous recessive I all homo.ygous recessive 'he only cross that fits this criteria is) dry & dry I all dry 'herefore, dry is the recessi(e phenotype (ss) and stic,y is the do'inant phenotype (S-)

Chapter 2

A 1)1 ratio comes from a testcross of hetero.ygous stic(y ,Ss- & dry ,ss- :owever, the stic,y x dry 'atings here include both the Ss x ss /67 the ho'o*ygous stic,y (SS) x dry (ss) A 2)1 ratio comes from crosses between two hetero.ygotes, Ss & Ss :owever, the SS individuals are also stic(y 'hus the stic(y & stic(y matings in this human population are a mi& of matings between two hetero.ygotes ,Ss & Ss-, between two homo.ygotes ,SS & SS- and between a homo.ygote and hetero.ygote ,SS & Ss- The "31 ratio of the hetero*ygote cross is therefore obscured by being co'bined &ith results of the t&o other crosses.

2 12. 4iagram the cross) blac( & red I 1 blac( ) 1 red 6o, you cannot tell how coat color is inherited from the results of this one mating. In effect, this was a test cross B a cross between animals of different phenotypes resulting in offspring of two phenotypes 'his does not indicate whether red or blac( is the dominant phenotype 'o determine which phenotype is dominant, remember that an animal with a recessive phenotype must be homo.ygous 'hus, if you 'ate se(eral red horses to each other and also 'ate se(eral blac, horses to each other- the crosses that al&ays yield only offspring &ith the parental phenotype 'ust ha(e been bet&een ho'o*ygous recessi(es. 0or e&ample, if all the blac( & blac( matings result in only blac( offspring, blac( is recessive Some of the red & red crosses ,that is, crosses between hetero.ygotes- would then result in both red and blac( offspring in a ratio of 2)1 'o establish this point, you might have to do several red & red crosses, because some of these crosses could be between red horses homo.ygous for the dominant allele !ou could of course ensure that you were sampling hetero.ygotes by using the progeny of blac( & red crosses ,such as that described in the problem- for subse#uent blac( & blac( or red & red crosses 2 1". a b c d e 12# because a die has E different sides 'here are three possible even numbers ,2, ", and E- 'he probability of obtaining any one of these is 1;E 8ecause the 2 events are mutually e&clusive, use the sum rule) 1;E N 1;E N 1;E O 2;E O 122 !ou must roll either a 2 or a E, so 1;E N 1;E O 2;E O 12" 9ach die is independent of the other, thus the product rule is used) 1;E & 1;E O 12"# 'he probability of getting an even number on one die is 2;E O 1;2 ,see part b- 'his is also the probability of getting an odd number on the second die 'his result could happen either of 2 ways B you could get the odd number first and the even number second, or vice*versa 'hus the probability of both occurring is 1;2 & 1;2 & 2 O 122.

Chapter 2

'he probability of any specific number on a die O 1;E 'he probability of the same number on the other die O1;E 'he probability of both occurring at same time is 1;E & 1;E O 1;2E 'he same probability is true for the other G possible numbers on the dice 'hus the probability of any of these mutually e&clusive situations occurring is 1;2E N 1;2E N 1;2E N 1;2E N 1;2E N 1;2E O E;2E O 12#

'he probability of getting two numbers both over four is the probability of getting a G or E on one die ,1;E N 1;E O 1;2- and G or E on the other die ,1;2- 'he results for the two dice are independent events, so 1;2 & 1;2 O 12$

2 1!. 'he pro b a b ili t y of dra & i n g a fac e card O 12 face cards ; G2 cards

8 0. 2 " 1

'he prob a b i li t y of dra & i n g a red card O 2E ; G2 8 0. 5 'he

prob a b i li t y of dra & i n g a red fac e card O prob a bility of a red card & prob a bility of a face card O D 221 & D G 8 0. 1 1 #
2 15. a 'he Aa bb CC DD woman can produce 2 genetically different eggs that vary in their allele of the first gene ,A or a- She is homo.ygous for the other 2 genes and can only ma(e eggs with the b C D alleles for these genes 'hus, using the product rule ,because the inheritance of each gene is independent-, she can ma(e 2 & 1 & 1 & 1 O 2 different types of ga'etes) ,A b C D and a b C Db c d 7sing the same logic, an AA Bb Cc dd woman can produce 1 & 2 & 2 & 1 O ! different types of ga'etes) A ,B or b- ,C or c- d A woman of genotype Aa Bb cc Dd can ma(e 2 & 2 & 1 & 2 O % different types of ga'etes) ,A or a- ,B or b- c ,D or dA woman who is a #uadruple hetero.ygote can ma(e 2 & 2 & 2 & 2 O 1# different types of ga'etes) ,A or a- ,B or b- ,C or c- ,D or d2 1#. a 'he probability of any phenotype in this cross depends only on the gamete from the hetero.ygous parent alone 'he probability that a child will resemble the #uadruply hetero.ygous parent is thus 1;2A & 1;2B & 1;2C & 1;2D O 1;1E 'he probability that a child will resemble the #uadruply homo.ygous recessive parent is 1;2a & 1;2b & 1;2c & 1;2d O 1;1E The probability that a child &ill rese'ble either parent is then 121# 9 121# 8 12% 'his cross will produce 2 different phenotypes for each gene or 2 & 2 & 2 & 2 O 1# potential phenotypes. b 'he probability of a child resembling the recessive parent is D+ the probability of a child resembling the dominant parent is 1 & 1 & 1 & 1 O 1 'he probability that a child will resemble one of the two

Chapter 2

parents is DN1O1 :nly 1 phenotype is possible in the progeny ,dominant for all " genes-, as ,1-" O1 c 'he probability that a child would show the dominant phenotype for any one gene is 2;" in this sort of cross ,remember the 2;" ) 1;" monohybrid ratio of phenotypes-, so the probability of resembling the parent for all four genes is ,2;"-" O %1225# 'here are 2 phenotypes possible for each gene, so ,2-" O 1# different ,inds of progeny. d All progeny will resemble their parents because all of the alleles from both parents are identical, so the probability 8 1 'here is only 1 phenotype possible for each gene in this cross+ because ,1-"O1, the child can have only one possible phenotype when considering all four genes 2 17. a b 'he combination of alleles in the egg and sperm allows only one genotype) aa Bb Cc DD Ee 8ecause the inheritance of each gene is independent, you can use the product rule to determine the number of different types of gametes that are possible) 1 & 2 & 2 & 1 & 2 O J ,as in problem 2*1G'o figure out the types of gametes, consider the possibilities for each gene separately and then the possible combinations of genes in a consistent order 0or each gene the possibilities are) a, ,B ) b-, ,C ) c-, D, and ,E ) e- 'he possibilities can be determined using the product rule 'hus for the first 2 genes >a@ & >B ) b@gives >a B ) a b@ & >C ) c@ gives >a B C ) a B c ) a b C ) a b c@ & >D@ gives >a B C D ) a B c D ) a b C D ) a b c D@ & >E ) e@ gives >a B C D E 3 a B C D e 3 a B c D E 3 a B c D e 3 a b C D E 3 a b C D e 3 a b c D E 3 a b c D e; 'his problem can also be visuali.ed with a branch diagram)

8 a b

C c C c

4 4 4 4 4 4 4 4

9 e 9 e 9 e 9 e

a 8C4 a 8C4 9 e a 8c 4 a 98c 4 e a b C4 9 a b C4 a e b c 49 a b c 4e

2 1%. 'he first two parts of this problem involve the probability of occurrence of two independent traits) the se& of a child and galactosemia 'he parents are hetero.ygous for galactosemia, so there is a 1;" chance that a child will be affected ,that is, homo.ygous recessive- 'he probability that a child is a girl is 1;2 'he probability of an affected girl is therefore 1;2 & 1;" O 1;J

1D

Chapter 2

0raternal ,non*identical- twins result from two independent fertili.ation events and therefore the probability that both will be girls with galactosemia is the product of their individual probabilities ,see above-+ 1;J & 1;J O 12#!

0or identical twins, one fertili.ation event gave rise to two individuals 'he probability that both are girls with galactosemia is 12%

0or parts c*g, remember that each child is an independent genetic event 'he se& of the children is not at issue in these parts of the problem c d e f 8oth parents are carriers ,hetero.ygous-, so the probability of having an unaffected child is 2;" 'he probability of " unaffected children is 2;" & 2;" & 2;" & 2;" O %1225# 'he probability that at least one child is affected is all outcomes e&cept the one mentioned in part c 'hus, the probability is 1 * J1;2GE O 175225# 'he probability of an affected child is 1;" while the probability of an unaffected child is 2;" 'herefore 1;" & 1;" & 2;" & 2;" O $225# 'he probability of 2 affected and 1 unaffected in any one particular birth order is 1;" & 1;" & 2;" O 2;E" 'here are 2 mutually e&clusive birth orders that could produce 2 affecteds and 1 unaffected B unaffected child first born, unaffected child second born, and unaffected child third born 'hus, there is a 2;E" N 2;E" N 2;E" O $2#! chance that 2 out of 2 children will be affected g 'he phenotype of the last child is independent of all others, so the probability of an affected child is 12! 2 1$. 4iagram the cross, where P is the normal pigmentation allele and p is the albino allele) normal & normal I albino P? & P? I pp An albino must be homo.ygous recessive pp 'he parents are normal in pigmentation and therefore could be PP or Pp 8ecause they have an albino child, they 'ust both be carriers (Pp). The probability that their next child &ill ha(e the pp genotype is 12! 2 20. 4iagram the cross) yellow round & yellow round I 1GE yellow round ) G" yellow wrin(led 'he monohybrid ratio for seed shape is 1GE round ) G" wrin(led O 2 round ) 1 wrin(led 'he parents must therefore have been hetero.ygous ,Rr- for the pea shape gene All the offspring are yellow and therefore have the Yy or YY genotype 'he parent plants were - !r x one of the parents must have been YY2 21. 4iagram the cross) !r ,that is, you (now at least

Chapter 2

11

smooth blac( P & rough white Q I 01 rough blac( I 02 J smooth white ) 2G smooth blac( ) 22 rough white ) E3 rough blac( a Since only one phenotype &as seen in the first generation of the cross- &e can assu'e that the parents &ere true breeding, and that the 01 generation consists of hetero.ygous animals The phenotype of the F1 progeny indicates that rough and blac, are the do'inant phenotypes. Four phenotypes are seen in the F2 generation so there are t&o genes controlling the phenotypes in this cross 'herefore, ! 8 rough- r 8 s'ooth< B 8 blac,- b 8 &hite In the 02 generation, consider each gene separately 0or the coat te&ture, there were J N 2G O 22 smooth ) 22 N E3 O 32 round, or a ratio of R1 smooth ) 2 round 0or the coat color, there were J N 22 O 21 white ) 2G N E3 O 3" blac(, or about R1 white ) 2 blac(, so the 0 2 progeny support the conclusion that the 01 animals were hetero.ygous for both genes b An 01 male is hetero.ygous for both genes, or Rr Bb 'he smooth white female must be homo.ygous recessive+ that is, rr bb 'hus, Rr Bb & rr bb I 1;2 Rr ,rough- ) 1;2 rr ,smoothand 1;2 Bb ,blac(- ) 1;2 bb ,white- 'he inheritance of these genes is independent, so apply the product rule to find the e&pected phenotypic ratios among the progeny, or 12! rough blac, 3 12! rough &hite 3 12! s'ooth blac, 3 12! s'ooth &hite 2 22. 4iagram the cross) YY rr ? yy RR I all Yy Rr I 3;1E Y- R- ,yellow round- ) 2;1E Y- rr ,yellow wrin(led- ) 2;1E yy R- ,green round- )1;1E yy rr ,green wrin(led9ach 02 pea results from a separate fertili.ation event 'he probability of K yellow round 0 2 peas is ,3;1E-K O ",KJ2,3E3;2EJ,"2G,"GE O 0.01% 2 2". a 0irst diagram the cross, and then figure out the monohybrid ratios for each gene) Aa !t & Aa !t I 2;" A* ,achoo- ) 1;" aa ,non*achoo- and 2;" !* ,trembling- ) 1;" tt ,non* trembling'he probability that a child will be A- ,and have achoo syndrome- is independent of the probability that it will lac( a trembling chin, so the probability of a child with achoo syndrome but without trembling chin is 2;" A* & 1;" tt O "21# b 'he probability that a child would have neither dominant trait is 1;" aa & 1;" tt O 121#

12

Chapter 2

2 2!. 'he 01 must be hetero.ygous for all the genes because the parents were pure*breeding ,homo.ygous- 'he appearance of the 01 establishes that the dominant phenotypes for the four traits are tall, purple flowers, a&ial flowers and green pods a 0rom a hetero.ygous 01 & 01, both dominant and recessive phenotypes can be seen for each gene 'hus, you e&pect 2 & 2 & 2 & 2 O 1E different phenotypes when considering the four traits together 'he possibilities can be determined using the product rule with the pairs of phenotypes for each gene, because the traits are inherited independently 'hus) >tall ) dwarf@ & >green ) yellow@ gives >tall green ) tall yellow ) dwarf green ) dwarf yellow@ & >purple ) white@ gives >tall green purple ) tall yellow purple ) dwarf green purple ) dwarf yellow purple ) tall green white ) tall yellow white ) dwarf green white ) dwarf yellow white@ & >terminal ) a&ial@ which gives tall green purple ter'inal 3 tall yello& purple ter'inal 3 d&arf green purple ter'inal 3 d&arf yello& purple ter'inal 3 tall green &hite ter'inal 3 tall yello& &hite ter'inal 3 d&arf green &hite ter'inal 3 d&arf yello& &hite ter'inal 3 tall green purple axial 3 tall yello& purple axial 3 d&arf green purple axial 3 d&arf yello& purple axial 3 tall green &hite axial 3 tall yello& &hite axial 3 d&arf green &hite axial 3 d&arf yello& &hite axial 'he possibilities can also be determined using the branch method shown below, which might in this complicated problem be easier to trac(

Chapter 2

12

4esignate the alleles) ! O tall, t O dwarf+ " O green+ # O yellow+ P O purple, p O white+ A O a&ial, a O terminal 'he cross !t "# Pp Aa ,an 01 plant- & tt ## pp AA ,the dwarf parent- will produce 2 phenotypes for the tall, green and purple genes, but only 1 phenotype ,a&ial- for the fourth gene or 2 & 2 & 2 & 1 O % different phenotypes 'he first 2 genes will give a 1;2 dominant ) 1;2 recessive ratio of the phenotypes ,for e&ample 1;2 ! ) 1;2 t- as this is in effect a test cross for each gene 'hus, the proportion of each phenotype in the progeny will be 1;2 & 1;2 & 1;2 & 1 O 1;J 7sing either of the methods described in part a, the progeny will be 12% tall green purple axial 3 12% tall yello& purple axial 3 12% d&arf green purple axial 3 12% d&arf yello& purple axial 3 12% tall green &hite axial 3 12% tall yello& &hite axial 3 12% d&arf green &hite axial 3 12% d&arf yello& &hite axial

2 25. Apply the 29F to each cross separately /emember that " phenotypic classes in the progeny means there are 2 genes controlling the phenotypes 4etermine the phenotypic ratio for each gene separately A 2)1 monohybrid ratio tells you which phenotype is dominant and that both parents were hetero.ygous for the trait+ in contrast, a 1)1 ratio results from a test cross where the dominant parent was hetero.ygous a 29FA1 * there are 2 genes in this cross ," phenotypes- 29FA2 * one gene controls purple ) white with a monohybrid ratio of 3" N 2J O 122 purple ) 22 N 11 O "2 white or R2 purple ) 1 white 'he second gene controls spiny ) smooth with a monohybrid ratio of 3" N 22 O1 2E spiny ) 2J N 11 O 23 smooth or R2 spiny ) 1 smooth 'hus, designate the alleles P 8 purple- p 8 &hite< S 8 spiny- s 8 s'ooth 'herefore, this is a straightforward dihybrid cross) Pp Ss x Pp Ss $ P- S- 3 " P- ss 3 " pp S- 3 1 pp ss b 'he 1 spiny ) 1 smooth ratio indicates a test cross for the pod shape gene 8ecause all progeny were purple, at least one parent plant must have been homo.ygous for the P allele of the flower color gene 'he cross was either PP Ss x P- ss or P- Ss x PP ss

1"

Chapter 2

'his is similar to part b, e&cept that here all the progeny were spiny so at least one parent must have been homo.ygous for the S allele 'he 1 purple ) 1 white test cross ratio indicates that the parents were either Pp S- x pp SS or Pp SS x pp S-

Loo(ing at each trait individually, there are J3 N 21 O 12D purple ) 32 N 2K O 113 white A 1 purple)1 white monohybrid ratio denotes a test cross 0or the other gene, there are J3 N 32 O 1J1 spiny ) 21 N 2K OG J smooth, or a 2 spiny ) 1 smooth ratio indicating that the parents were both hetero.ygous for the S gene 'he genotypes of the parents were pp Ss x Pp Ss

'here is a 2 purple ) 1 white ratio among the progeny, so the parents were both hetero.ygous for the P gene All progeny have smooth pods so the parents were both homo.ygous recessive ss 'he genotypes of the parents are Pp ss x Pp ss

'here is a 2 spiny ) 1 smooth ratio, indicative of a cross between hetero.ygotes ,Ss & Ss- All progeny were white so the parents must have been homo.ygous recessive pp 'he genotypes of the parents are pp Ss x pp Ss

2 2#. 'hree characters ,genes- are being analy.ed in this cross =hile we can usually tell which alleles are dominant from the phenotype of the hetero.ygote, we are not told the phenotype of the hetero.ygote ,that is, the original pea plant that was selfed- Instead, use the monohybrid phenotypic ratios to determine which allele is dominant and which is recessive for each gene Consider height first 'here are 2K2 N 32 N JJ N 2G O "JK tall plants and 32 N 21 N 23 N 11 O 1E" dwarf plants 'his is a ratio of R2 tall ) 1 dwarf, indicating that tall is do'inant 5e&t consider pod shape, where there are 2K2 N 32 N 32 N 21 O "JJ inflated pods and JJ N 2G N 23 N 11 O 1E2 flat pods, or appro&imately 2 inflated ) 1 flat, so inflated is do'inant 0inally, consider flower color 'here were 2K2 N JJ N 32 N 23 N 11 O "32 purple flowers and 32 N 2G N 21 N 11 O 1E3 white flowers, or R2 purple ) 1 white 'hus, purple is do'inant 2 27. Apply 29FA1 and 29FA2 to each cross to help you diagram these crosses /emember that you are told that tiny wings O t, normal wings O ', narrow eye O n and oval ,normal- eye O 5 In cross 1 there are 2 phenotypes that differ in the offspring, so there is one gene controlling the oval and narrow eyes ,29FA1- All of the parents and offspring show the tiny wing phenotype so there is no variability in the gene controlling this trait, and all flies in this cross are tt In considering 29FA2 note that the eye phenotypes in the offspring are seen in a ratio of 2 oval ) 1 narrow 'his phenotypic monohybrid ratio means that both parents are hetero.ygous for the gene ,$%- 'hus the genotypes for the parents in cross 1 are) tt "n x tt "n In cross 2 consider the wing trait first 'he female parent is tiny ,tt- so this is a test cross for the wings 'he offspring show both tiny and normal in a ratio of J2 ) JG or a ratio of 1 tiny ) 1 normal

Chapter 2

1G

'herefore the normal male parent must be hetero.ygous for this gene ,!t- 0or eyes the narrow parent is homo.ygous recessive ,%%- so again this is a test cross for this gene Again both eye phenotypes are seen in the offspring in a ratio of 1 oval ) 1 narrow, so the oval female parent is a $% hetero.ygote 'hus the genotypes for the parents in cross 2 are) #t nn x tt "n Consider the wing phenotype in the offspring of cross 2 8oth wing phenotypes are seen in a ratio of E" normal flies ) 21 tiny or a 2 normal ) 1 tiny 'hus both parents are !t hetero.ygotes 'he male parent is narrow ,%%-, so cross 2 is a test cross for eyes 8oth phenotypes are seen in the offspring in a 1 normal ) 1 narrow ratio, so the female parent is hetero.ygous for this gene 'he genotypes of the parents in cross " are) #t nn x #t "n =hen e&amining cross " you notice a monohybrid phenotypic ratio of 2 normal ) 1 tiny for the wings in the offspring 'hus both parents are hetero.ygous for this gene ,!t- 8ecause the male parent has narrow eyes ,%%-, this cross is a test cross for eyes All of the progeny have oval eyes, so the female parent must be homo.ygous dominant for this trait 'hus the genotypes of the parents in cross ! are) #t nn x #t "" 2 2%. a Analy.e each gene separately) !t & !t will give 2;" !* ,normal wing- offspring 'he cross %% & $% will give 1;2 $* ,normal eye- offspring 'o calculate the probability of the normal offspring apply the product rule to the normal portions of the monohybrid ratios by cross multiplying these two fractions ,and their gene symbols-) 2;" !* & 1;2 $* O 2;J !* $* 'hus "2% of the offspring of this cross will have nor'al &ings and o(al eyes b 4iagram the cross) 't nn & 't 5n I < 0ind the phenotypic monohybrid ratio separately for each gene in the offspring 'hen cross multiply these monohybrid ratios to find the phenotypic dihybrid ratio A cross of !t & !t I 2;" !* ,normal wings- ) 1;" tt ,tiny wings- 0or the eyes the cross is %% & $% I 1;2 $* ,oval- ) 1;2 %% ,narrow- Applying the product rule gives 2;J !* $* ,normal oval- ) 2;J !* %% ,normal narrow- ) 1;J tt $* ,tiny oval- ) 1;J tt %% ,tiny narrow- =hen you multiply each fraction by 2DD progeny you will see 75 nor'al o(al 3 75 nor'al narro& 3 25 tiny o(al 3 25 tiny narro& Section 2.3 Mendelian Inheritance in Humans 2 2$. a =ecessi(e * two unaffected individuals have an affected child ,aa- 'herefore the parents involved in the consanguineous marriage must both be carriers ,Aa-

1E

Chapter 2

7o'inant * the trait is seen in each generation and every affected person ,A-- has an affected parent 5ote that III*2 is unaffected ,aa- even though both his parents are * this would not be possible for a recessive trait 'he term carrier is not applicable, because everyone with a single A allele shows the trait

=ecessi(e * two unaffected, carrier parents ,Aa- have an affected child ,aa-, as in part a

2 "0. )edigree diagra' in the boo, does not ha(e =o'an nu'erals a Cutis la&a must be a recessive trait because affected child II*" has normal parents 8ecause II*" is affected she must have received an affected allele ,C&- from both parents 'he mother ,I*2- is hetero.ygous ,C&' C&- If this trait was ? lin(ed then the father ,I*"- would be hemi.ygous C& on his ? chromosome and he would be affected 8ecause he is normal he must be hetero.ygous ,C&' C&- and the trait is autoso'al recessi(e b !ou are told that this trait is rare, so unrelated people in the pedigree, li(e I*2, are homo.ygous normal ,C&' C&'- 4iagram the cross that gives rise to II*2) C& C& ,I*1- & C&' C&' ,I*2- I C&' C& 'hus the probability that >> 2 is a carrier is 100? c As described in part a both parents in this cross are carriers) C&' C& & C&' C& II*2 is not affected so he can 5%' be the C& C& genotype 'herefore there is a 1;2 probability that he is the C&' C&' genotype and a 22" probability that he is a carrier ,C&' C&d As shown in part b II*2 must be a carrier ,C&' C&- In order to have an affected child II*2 must also be a carrier 'he probability of this is 2;2 as shown in part c 'he probability of two hetero.ygous parents having an affected child is 1;" Apply the product rule to these probabilities) 1 probability that II*2 is C&' C& & 2;2 probability that II*2 is C&' C& & 1" probability of an affected child O 2;12 O 12#

Chapter 2

1K

2 "1. 4iagram the crossH In humans, this is usually done as a pedigree /emember that the affected siblings must be C( C(
C(' C(

/oman numerals are missing on the pedigree diagram below

C(' C( C(' C( C(' C(

s ib lin g
C( C( C( C(

s ib lin g

'he probability that II*2 is a carrier is 22" 8oth families have an affected sibling, so both sets of parents ,that is, all the people in generation I- must have been carriers 'hus, the e&pected genotypic ratio in the children is 1;" affected ) 1;2 carrier ) 1;" homo.ygous normal II*2 is 5%' affected, so she cannot be C( C( %f the remaining possible genotypes, 2 are hetero.ygous 'here is therefore a 2;2 chance that she is a carrier

'he probability that II*2 & II*2 will have an affected child is 2;2 ,the probability that the mother is a carrier as seen in part a- & 2;2 ,the probability the father is a carrier using the same reasoning- & 1;" ,the probability that two carriers can produce an affected child- O 12$

'he probability that both parents are carriers and that their child will be a carrier is 2;2 & 2;2 & 1;2 O 2;3 ,using the same reasoning as in part b, e&cept as(ing that the child be a carrier instead of affected- :owever, it is also possible for C(' C(' & C(' C( parents to have children that are carriers /emember that there are 2 possible ways for this particular mating to occur B homo.ygous father & hetero.ygous mother or vice versa 'hus the probability of this sort of mating is 2 & 1;2 ,the probability that a particular parent is C(' C('- & 2;2 ,the probability that the other parent is C(' C( & 1;2 ,the probability such a mating could produce a carrier child O 2;3 'he probability that a child could be carrier from either of these two scenarios ,where both parents are carriers or where only one parent is a carrier- is the sum of these mutually e&clusive events, or 2;3 N 2;3 O !2$

2 "2. a b 8ecause the disease is rare the affected father is most li(ely to be hetero.ygous ,)*- 'here is a 122 chance that the son inherited the ) allele from his father and will thus develop the disease 'he probability of an affected child is) 1;2 ,the probability that Soe is )*- & 1;2 ,the probability that the child inherits the ) allele if Soe is )*- O 12!

1J

Chapter 2

2 "". 'he trait is recessi(e because pairs of unaffected individuals ,I*1 & I*2 as well as II*2 & II*"- had affected children ,II*1, III*1, and III*2- 'here are also two cases in which an unrelated individual must have been a carrier ,II*" and either I*1 or I*2-, so the disease allele appears to be co''on in the population 2 "!. a 'he inheritance pattern seen in Figure 2.21 could be caused by a rare do'inant 'utation In this case, the affected individuals would be hetero.ygous ,)*- and the normal individuals would be ** Any mating between an affected individual and an unaffected individual would give 1;2 normal ,**- ) 1;2 affected ,)*- children :owever, the same pattern of inheritance could be seen if the disease were caused by a co''on recessi(e 'utation In the case of a common recessive mutation, all the affected individuals would be ** 8ecause the mutant allele is common in the population, most or even all of the unrelated individuals could be assumed to be carriers ,)*Matings between affected and unaffected individuals would then also yield phenotypic ratios of progeny of 1;2 normal ,)*- ) 1;2 affected ,**b 7eter'ine the phenotype of the 1! children of >>> # and >@ %. If the disease is due to a recessi(e allele, then III*E and IT*J must be homo.ygotes for this recessive allele, and all their children 'ust ha(e the disease. If the disease is due to a do'inant 'utation, then III*E and IT*J must be hetero.ygotes ,because they are affected but they each had one unaffected parent-, and 12! of their 1! children &ould be expected to be unaffected. Alternatively, you could loo, at the progeny of 'atings bet&een unaffected indi(iduals in the pedigree such as III*1 and an unaffected spouse If the disease were due to a do'inant 'utation, these matings would all be homo.ygous recessive & homo.ygous recessive and would ne(er gi(e affected children If the disease is due to a recessi(e 'utation, then many of these individuals would be carriers, and if the trait is common then at least some of the spouses would also be carriers, so such matings could gi(e affected children

Chapter 2

13

2 "5. 4iagram the cross by drawing a pedigree /oman numerals are missing on the pedigree diagram below

))

**

))

)*

)*

))

affected<

Assuming the disease is very rare, the first generation is )) unaffected ,I*1- & ** affected ,I*2'hus, both of the children ,II*2 and II*2- must be carriers ,)*- Again assuming this trait is rare in the population, those people marrying into the family ,II*1 and II*"- are homo.ygous normal ,))'herefore, the probability that III*1 is a carrier is 1;2+ III*2 has the same chance of being a carrier 'hus the probability that a child produced by these two first cousins would be affected is 1;2 ,the probability that III*1 is a carrier- & 1;2 ,the probability that III*2 is a carrier- & 1;" ,the probability the child of two carriers would have an ** genotype- O 121# O D DE2G

If 1;1D people in the population are carriers, then the probability that II*1 and II*" are )* is D 1 for each In this case an affected child in generation IT can only occur if III*1 and III*2 are both carriers III*1 can be a carrier as the result of 2 different matings) ,i- II*1 homo.ygous normal & II* 2 carrier or ,ii- II*1 carrier & II*2 carrier ,5ote that II*2 must be a carrier because of the normal phenotype and the fact that one parent was affected - 'he probability of III*1 being a carrier is thus the probability of mating ,i- & the probability of generating a )* child from mating ,i- N the probability of mating ,ii- & the probability of generating an )* child from mating ,ii- O D 3 ,the probability II*1 is )), which is the probability for mating >i@- & 1;2 ,the probability that III*1 will inherit * in mating >i@- N D 1 ,the probability II*1 is )+ which is the probability for mating >ii@- & 2;2 ,the probability that III*1 will inherit * in mating >ii@+ remember that III*1 is (nown not to be **- O D "G N D DEK O D G1K 'he chance that III*2 will inherit * is e&actly the same 'hus, the probability that IT*1 is ** O D G1K ,the probability III*1 is )*- & D G1K ,the probability that III*2 is )*- ? 1;" ,the probability the child of two carriers will be **- O 0.0#7 'his number is slightly

2D

Chapter 2

higher than the answer to part a, which was D DE2G, so the increased li(elihood that II*1 or II*" is a carrier ma(es it only slightly more li(ely that IT*1 will be affected 2 "#. a 8oth diseases are (nown to be rare, so normal people marrying into the pedigree are assumed to be homo.ygous normal 6ail patella (") syndro'e is do'inant because all affected children have an affected parent /l,aptonuria (a) is recessi(e because the affected children are the result of a consanguineous mating between 2 unaffected individuals ,III*2 & III*"- 1enotypes) > 1 nn Aa< > 2 "n AA (or > 1 nn AA and > 2 "n Aa)< >> 1 nn AA< >> 2 nn Aa< >> " "n A < >> ! nn A < >> 5 "n Aa< >> # nn AA< >>> 1 nn AA< >>> 2 nn A < >>> " nn Aa< >>> ! "n Aa< >>> 5 nn A < >>> # nn A < >@ 1 nn A < >@ 2 nn A < >@ " "n A < >@ ! nn A < >@ 5 "n aa< >@ # nn aa< >@ 7 nn A . b 'he cross is %% A* ,IT*2- & $% aa ,IT*G- 'he ambiguity in the genotype of IT*2 is due to the uncertainty of her fatherCs genotype ,III*2- :is parentsC genotypes are %% AA ,II*1- & %% Aa ,II*2so there is a 1;2 chance III*2 is %% AA and a 1;2 chance he is %% Aa 'hus, for each of the phenotypes below you must consider both possible genotypes for IT*2 0or each part below, calculate the probability of the child inheriting the correct gametes from IT*2 & the probability of obtaining the correct gametes from IT*2 to give the desired phenotype If both the possible IT*2 genotypes can produce the needed gametes, you will need to sum the two probabilities * for the child to have both syndromes ,$* aa-, IT*2 would have to contribute an % a gamete 'his could only occur if IT*2 were %% Aa 'he probability IT*2 is %% Aa is 1;2, and the probability of receiving an % a gamete from IT*2 if he is %% Aa is also 1;2 'he probability that IT*G would supply an $ a gamete is also 1;2 'hus, 1;2 & 1;2 & 1;2 O 1;J 'here is no need to sum probabilities in this case because IT*2 cannot produce an % a gamete if his genotype is %% AA * for the child to have only nail*patella syndrome ,$- A--, IT*2 would have to provide an % A gamete and IT*G an $ a gamete 'his could occur if IT*2 were %% Aa+ the probability is 1;2 ,the probability IT*2 is Aa- & 1;2 ,the probability of an A gamete if IT*2 is Aa- & 1;2 ,the probability of an $ a gamete from IT*G@ O 1;J 'his could also occur if IT*2 were %% AA :ere, the probability is 1;2 ,the probability IT*2 is %% AA- & 1 ,the probability of an % A gamete if IT*2 is %% AA- & 1;2 ,the probability of an $ a gamete from IT*G@ O 1;" Summing the probabilities for the two mutually e&clusive IT*2 genotypes, 1;J N 1;" O "2% * for the child to have $ust al(aptonuria ,%% aa-, IT*2 would have to contribute an % a gamete 'his could only occur if IT*2 were %% Aa 'he probability IT*2 is %% Aa is 1;2, and the probability of receiving an % a gamete from IT*2 if he is %% Aa is also 1;2 'he probability that IT*G would supply an % a gamete is also 1;2 'hus, 1;2 & 1;2 & 1;2 O 12% 'here is no

Chapter 2

21

need to sum probabilities in this case because IT*2 cannot produce an % a gamete if his genotype is %% AA * the probability of neither defect is 1 B ,sum of the first 2- O 1 * ,1;J N 2;J N 1;J- O 1 * G;J O "2% !ou can ma(e this calculation because there are only the four possible outcomes and you have already calculated the probabilities of three of them 2 "7. 4iagram the cross,es-) midphalangeal & midphalangeal I 1JG2 midphalangeal ) 2D3 normal ,< ,, ,m ,, ,m & & & & & ,< ,, ,, ,m ,m I ,< ) mm I all ,, I all ,* I all ,* I 2;" ,* ) 1;" mm 'he following crosses are possible)

'he 2D3 normal children must have arisen from the last cross, so appro&imately 2 & 2D3 O E2D children should be their ,- siblings 'hus, about J"D of the children or A!0? ca'e fro' the last 'ating and the other EDU of the children were the result of one or more of the other matings 'his problem illustrates that much care in interpretation is re#uired when the results of many matings in mi&ed populations are reported