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7/31/2019 champbell14 Lecture Presentation http://slidepdf.com/reader/full/champbell14-lecture-presentation 1/108 LECTURE PRESENTATIONS For CAMPBELL BIOLOGY, NINTH EDITION Jane B. Reece, Lisa A. Urry, Michael L. Cain, Steven A. Wasserman, Peter V. Minorsky, Robert B. Jackson © 2011 Pearson Education, Inc. Lectures by Erin Barley Kathleen Fitzpatrick Mendel and the Gene Idea Chapter 14
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LECTURE PRESENTATIONS 

For CAMPBELL BIOLOGY, NINTH EDITION Jane B. Reece, Lisa A. Urry, Michael L. Cain, Steven A. Wasserman, Peter V. Minorsky, Robert B. Jackson

© 2011 Pearson Education, Inc.

Lectures by

Erin Barley

Kathleen Fitzpatrick 

Mendel and the Gene Idea

Chapter 14

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Overview: Drawing from the Deck of Genes

•  What genetic principles account for the passing

of traits from parents to offspring?

•  The “blending” hypothesis is the idea that

genetic material from the two parents blendstogether (like blue and yellow paint blend to

make green)

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•  The “particulate” hypothesis is the idea thatparents pass on discrete heritable units(genes)

•  This hypothesis can explain the reappearanceof traits after several generations

•  Mendel documented a particulate mechanismthrough his experiments with garden peas

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Figure 14.1 

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Concept 14.1: Mendel used the scientific

approach to identify two laws of inheritance

•  Mendel discovered the basic principles of 

heredity by breeding garden peas in carefully

planned experiments

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Mendel’s Experimental, Quantitative

Approach

•   Advantages of pea plants for genetic study 

 –  There are many varieties with distinct heritable

features, or characters (such as flower color);character variants (such as purple or whiteflowers) are called traits

 –  Mating can be controlled

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

 –  Cross-pollination (fertilization between differentplants) involves dusting one plant with pollenfrom another 

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Figure 14.2 

Parentalgeneration

(P) Stamens

Carpel

First filialgenerationoffspring(F1)

TECHNIQUE

RESULTS

3

2

1

4

5

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Figure 14.2a 

Parentalgeneration(P) Stamens

Carpel

TECHNIQUE

2

1

3

4

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Figure 14.2b 

First filialgenerationoffspring(F1)

RESULTS

5

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•  Mendel chose to track only those characters

that occurred in two distinct alternative forms

•  He also used varieties that were true-breeding 

(plants that produce offspring of the samevariety when they self-pollinate)

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•  In a typical experiment, Mendel mated two

contrasting, true-breeding varieties, a processcalled hybridization

•  The true-breeding parents are the P generation•  The hybrid offspring of the P generation are called

the F1 generation

•  When F1 individuals self-pollinate or cross-

pollinate with other F1 hybrids, the F2 generationis produced

© 2011 Pearson Education, Inc.

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The Law of Segregation

•  When Mendel crossed contrasting, true-

breeding white- and purple-flowered pea plants,all of the F1 hybrids were purple

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

white

•  Mendel discovered a ratio of about three to one,

purple to white flowers, in the F2 generation

© 2011 Pearson Education, Inc.

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Figure 14.3-1 

P Generation

EXPERIMENT

(true-breedingparents) Purple

flowersWhite

flowers

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Figure 14.3-2 

P Generation

EXPERIMENT

(true-breedingparents)

F1 Generation

(hybrids)

Purpleflowers

Whiteflowers

All plants had purple flowers

Self- or cross-pollination

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Figure 14.3-3 

P Generation

EXPERIMENT

(true-breedingparents)

F1 Generation

(hybrids)

F2 Generation

Purpleflowers

Whiteflowers

All plants had purple flowers

Self- or cross-pollination

705 purple-flowered

plants

224 whiteflowered

plants

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•  Mendel reasoned that only the purple flower 

factor was affecting flower color in the F1 hybrids

•  Mendel called the purple flower color a dominant

trait and the white flower color a recessive trait•  The factor for white flowers was not diluted or 

destroyed because it reappeared in the F2

generation 

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•  Mendel observed the same pattern of 

inheritance in six other pea plant characters,each represented by two traits

•  What Mendel called a “heritable factor” is whatwe now call a gene

© 2011 Pearson Education, Inc.© 2011 Pearson Education, Inc.

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Table 14.1 

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 Mendel’s Model  •  Mendel developed a hypothesis to explain the

3:1 inheritance pattern he observed in F2 offspring

•  Four related concepts make up this model•  These concepts can be related to what we now

know about genes and chromosomes

© 2011 Pearson Education, Inc.© 2011 Pearson Education, Inc.

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

•  For example, the gene for flower color in peaplants exists in two versions, one for purpleflowers and the other for white flowers

•  These alternative versions of a gene are nowcalled alleles

•  Each gene resides at a specific locus on a

specific chromosome

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Figure 14.4 

Allele for purple flowers

Locus for flower-color gene

Allele for white flowers

Pair of homologouschromosomes

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•  Second: for each character, an organisminherits two alleles, one from each parent

•  Mendel made this deduction without knowingabout the role of chromosomes

•  The two alleles at a particular locus may beidentical, as in the true-breeding plants of Mendel’s P generation

•   Alternatively, the two alleles at a locus may

differ, as in the F1 hybrids

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•  Third: if the two alleles at a locus differ, then one

(the dominant allele) determines the organism’sappearance, and the other (the recessive allele)

has no noticeable effect on appearance•  In the flower-color example, the F1 plants had

purple flowers because the allele for that trait isdominant

© 2011 Pearson Education, Inc.

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

•  Thus, an egg or a sperm gets only one of the twoalleles that are present in the organism

•  This segregation of alleles corresponds to thedistribution of homologous chromosomes to

different gametes in meiosis

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•  Mendel’s segregation model accounts for the 3:1ratio he observed in the F2 generation of hisnumerous crosses

•  The possible combinations of sperm and egg canbe shown using a Punnett square, a diagram for predicting the results of a genetic cross betweenindividuals of known genetic makeup

•   A capital letter represents a dominant allele, and a

lowercase letter represents a recessive allele

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Figure 14.5-1 

P Generation

Appearance:

Genetic makeup:

Gametes:

Purple flowers White flowers

 PP   pp 

 P   p 

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Figure 14.5-2 

P Generation

F1 Generation

Appearance:

Genetic makeup:

Gametes:

Appearance:Genetic makeup:

Gametes:

Purple flowers White flowers

Purple flowers Pp 

 PP   pp 

 P 

 P 

 p 

 p 1 /2 1 /2 

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Figure 14.5-3 

P Generation

F1 Generation

F2 Generation

Appearance:

Genetic makeup:

Gametes:

Appearance:Genetic makeup:

Gametes:

Purple flowers White flowers

Purple flowers

Sperm from F1 ( Pp) plant

 Pp 

 PP   pp 

 P 

 P 

 P 

 P 

 p 

 p 

 p 

 p 

Eggs fromF1 ( Pp) plant

 PP 

 pp  Pp 

 Pp 

1 /2 1 /2 

3 : 1

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Useful Genetic Vocabulary •   An organism with two identical alleles for a

character is said to be homozygous for thegene controlling that character 

•   An organism that has two different alleles for agene is said to be heterozygous for the gene

controlling that character 

•  Unlike homozygotes, heterozygotes are not

true-breeding

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•  Because of the different effects of dominant and

recessive alleles, an organism’s traits do notalways reveal its genetic composition

•  Therefore, we distinguish between an organism’sphenotype, or physical appearance, and its

genotype, or genetic makeup

•  In the example of flower color in pea plants, PP 

and Pp plants have the same phenotype (purple)but different genotypes

© 2011 Pearson Education, Inc.

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Phenotype

Purple

Purple

Purple

White

3

1

1

1

2

Ratio 3:1 Ratio 1:2:1

Genotype

 PP 

(homozygous)

 Pp (heterozygous)

 Pp (heterozygous)

 pp (homozygous)

Figure 14.6 

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The Testcross •  How can we tell the genotype of an individual with

the dominant phenotype?

•  Such an individual could be either homozygous

dominant or heterozygous•  The answer is to carry out a testcross: breeding

the mystery individual with a homozygousrecessive individual

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

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Figure 14.7 

Dominant phenotype,unknown genotype: PP or  Pp?

Recessive phenotype,known genotype: pp 

Predictions

If purple-floweredparent is PP 

If purple-floweredparent is Pp 

or 

Sperm Sperm

Eggs Eggs

or 

All offspring purple 1 /2 offspring purple and1 /2 offspring white

 Pp   Pp 

 Pp   Pp 

 Pp   Pp 

 pp   pp 

 p   p   p   p 

 P 

 P 

 P 

 p 

TECHNIQUE

RESULTS

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The Law of Independent Assortment

•  Mendel derived the law of segregation by

following a single character 

•  The F1 offspring produced in this cross were

monohybrids, individuals that areheterozygous for one character 

•   A cross between such heterozygotes is called

a monohybrid cross 

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•  Mendel identified his second law of inheritance by

following two characters at the same time

•  Crossing two true-breeding parents differing in two

characters produces dihybrids in the F1 generation, heterozygous for both characters

•   A dihybrid cross, a cross between F1 dihybrids,

can determine whether two characters are

transmitted to offspring as a package or independently

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Figure 14.8 

P Generation

F1 Generation

Predictions

Gametes

EXPERIMENT

RESULTS

YYRR  yyrr 

 yr YR

YyRr 

Hypothesis of dependent assortment

Hypothesis of independent assortment

Predictedoffspring of 

F2 generation Sperm

Spermor 

Eggs

Eggs

Phenotypic ratio 3:1

Phenotypic ratio 9:3:3:1

Phenotypic ratio approximately 9:3:3:1315 108 101 32

1 /2 1 /2 

1 /2 

1 /2 

1 /4 1 /4 

1 /4 1 /4 

1 /4 

1 /4 

1 /4 

1 /4 

9 /16 3 /16 

3 /16 1 /16 

YR

YR

YR

YR yr 

 yr 

 yr 

 yr 1 /4 3 /4 

Yr 

Yr 

 yR

 yR

YYRR YyRr 

YyRr   yyrr 

YYRR YYRr  YyRR YyRr 

YYRr  YYrr  YyRr  Yyrr 

YyRR YyRr   yyRR  yyRr 

YyRr  Yyrr   yyRr   yyrr 

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•  Using a dihybrid cross, Mendel developed thelaw of independent assortment

•  The law of independent assortment states thateach pair of alleles segregates independently of each other pair of alleles during gameteformation

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

•  Genes located near each other on the samechromosome tend to be inherited together 

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Concept 14.2: The laws of probability govern

Mendelian inheritance

•  Mendel’s laws of segregation and independent

assortment reflect the rules of probability

•  When tossing a coin, the outcome of one tosshas no impact on the outcome of the next toss

•  In the same way, the alleles of one gene

segregate into gametes independently of 

another gene’s alleles

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•  The multiplication rule states that the probability

that two or more independent events will occur 

together is the product of their individualprobabilities

•  Probability in an F1 monohybrid cross can be

determined using the multiplication rule

•  Segregation in a heterozygous plant is like flippinga coin: Each gamete has a chance of carryingthe dominant allele and a chance of carrying the

recessive allele

The Multiplication and Addition Rules

Applied to Monohybrid Crosses

12

 

12

© 2011 Pearson Education, Inc.

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Figure 14.9 

Segregation of alleles into eggs

Segregation of alleles into sperm

Sperm

Eggs

1 /2 

1 /2 

1 /2 1 /2 

1 /4 1 /4 

1 /4 1 /4 

 Rr   Rr 

 R

 R R

 R  R

 R

r r  r 

 

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•  The addition rule states that the probability that

any one of two or more exclusive events willoccur is calculated by adding together their 

individual probabilities

•  The rule of addition can be used to figure out the

probability that an F2 plant from a monohybridcross will be heterozygous rather than

homozygous

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Solving Complex Genetics Problems with the

Rules of Probability

•  We can apply the multiplication and addition

rules to predict the outcome of crosses involving

multiple characters•   A dihybrid or other multicharacter cross is

equivalent to two or more independent

monohybrid crosses occurring simultaneously

•  In calculating the chances for various genotypes,each character is considered separately, andthen the individual probabilities are multiplied

© 2011 Pearson Education, Inc.

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Figure 14.UN01 

Probability of YYRRProbability of YyRR

1 / 4

(probability of YY )1 / 2 (Yy)

1 / 4

( RR)1 / 4 ( RR)

1 / 16

1 / 8

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Figure 14.UN02 

Chance of at least two recessive traits

 ppyyRr  ppYyrr  Ppyyrr  PPyyrr  ppyyrr 

1 / 4 (probability of  pp)  1 / 2 ( yy)  1 / 2 ( Rr ) 1 / 4   1 / 2   1 / 2 1 / 2   1 / 2   1 / 2 1 / 4   1 / 2   1 / 2 1 / 4   1 / 2   1 / 2 

 1 / 16  1 / 16  2

 / 16  1 / 16  1 / 16  6 / 16 or 3 / 8 

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Concept 14.3: Inheritance patterns are often

more complex than predicted by simpleMendelian genetics

•  The relationship between genotype and

phenotype is rarely as simple as in the peaplant characters Mendel studied

•  Many heritable characters are not determined

by only one gene with two alleles

•  However, the basic principles of segregationand independent assortment apply even to

more complex patterns of inheritance

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Extending Mendelian Genetics for a Single

Gene

•  Inheritance of characters by a single gene may

deviate from simple Mendelian patterns in the

following situations: –  When alleles are not completely dominant or 

recessive

 –  When a gene has more than two alleles

 –  When a gene produces multiple phenotypes

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 Degrees of Dominance

•  Complete dominance occurs when phenotypes

of the heterozygote and dominant homozygote areidentical

• In incomplete dominance, the phenotype of F1 hybrids is somewhere between the phenotypes of 

the two parental varieties

•  In codominance, two dominant alleles affect the

phenotype in separate, distinguishable ways

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Figure 14.10-1 

P Generation

Red White

Gametes

CW CW C RC R

C R CW 

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Figure 14.10-2 

P Generation

F1 Generation

1 /2 1 /2 

Red White

Gametes

Pink

Gametes

CW CW C RC R

C R CW 

C RCW 

C R CW 

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Figure 14.10-3 

P Generation

F1 Generation

F2 Generation

1 /2 1 /2 

1 /2 1 /2 

1 /2 

1 /2 

Red White

Gametes

Pink

Gametes

Sperm

Eggs

CW CW C RC R

C R CW 

C RCW 

C R CW 

CW C R

C R

CW C RC R C RCW 

C RCW  CW CW 

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•   A dominant allele does not subdue a recessive

allele; alleles don’t interact that way•   Alleles are simply variations in a gene’s

nucleotide sequence

•  For any character, dominance/recessiveness

relationships of alleles depend on the level atwhich we examine the phenotype

The Relation Between Dominance and

Phenotype

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•  Tay-Sachs disease is fatal; a dysfunctional

enzyme causes an accumulation of lipids in thebrain 

 –  At the organismal level, the allele is recessive

 –  At the biochemical level, the phenotype (i.e.,

the enzyme activity level) is incompletely

dominant

 –  At the molecular level, the alleles are

codominant

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Frequency of Dominant Alleles 

•  Dominant alleles are not necessarily more

common in populations than recessive alleles

•  For example, one baby out of 400 in the UnitedStates is born with extra fingers or toes

© 2011 Pearson Education, Inc.© 2011 Pearson Education, Inc.© 2011 Pearson Education, Inc.

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•  The allele for this unusual trait is dominant to the

allele for the more common trait of five digits per appendage

• In this example, the recessive allele is far moreprevalent than the population’s dominant allele

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 Multiple Alleles

•  Most genes exist in populations in more than twoallelic forms

•  For example, the four phenotypes of the ABOblood group in humans are determined by three

alleles for the enzyme (I) that attaches A or Bcarbohydrates to red blood cells: I  A, I B, and i .

•  The enzyme encoded by the I  A allele adds the Acarbohydrate, whereas the enzyme encoded by

the I B

allele adds the B carbohydrate; the enzymeencoded by the i allele adds neither 

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Figure 14.11 

Carbohydrate

Allele

(a) The three alleles for the ABO blood groups and their carbohydrates

(b) Blood group genotypes and phenotypes

Genotype

Red blood cellappearance

Phenotype(blood group)

A

A

B

B AB

none

O

 I  A  I  B i 

ii  I  A I  B I  A I  A or  I  Ai   I  B I  B or  I  Bi 

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 Pleiotropy

•  Most genes have multiple phenotypic effects, a

property called pleiotropy

•  For example, pleiotropic alleles are responsible for 

the multiple symptoms of certain hereditarydiseases, such as cystic fibrosis and sickle-cell

disease

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Extending Mendelian Genetics for Two or

More Genes

•  Some traits may be determined by two or more

genes

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 Epistasis

•  In epistasis, a gene at one locus alters thephenotypic expression of a gene at a secondlocus

•  For example, in Labrador retrievers and manyother mammals, coat color depends on twogenes

•  One gene determines the pigment color (withalleles B for black and b for brown)

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

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Figure 14.12 

Sperm

Eggs

9 : 3 : 4

1 /4 1 /4 

1 /4 1 /4 

1 /4 

1 /4 

1 /4 

1 /4 

 BbEe  BbEe

 BE

 BE

bE

bE

 Be

 Be

be

be

 BBEE  BbEE  BBEe  BbEe

 BbEE bbEE  BbEe bbEe

 BBEe  BbEe  BBee  Bbee

 BbEe bbEe  Bbee bbee

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 Polygenic Inheritance

•  Quantitative characters are those that vary in the

population along a continuum

•  Quantitative variation usually indicates polygenic

inheritance, an additive effect of two or moregenes on a single phenotype

•  Skin color in humans is an example of polygenic

inheritance

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Figure 14.13 

Eggs

Sperm

Phenotypes:

Number of dark-skin alleles: 0 1 2 3 4 5 6

1 /8 1 /8 

1 /8 1 /8 

1 /8 1 /8 

1 /8 1 /8 

1 /8 

1 /8 

1 /8 

1 /8 

1 /8 

1 /8 

1 /8 

1 /8 

1 /64 6 /64 

15 /64 20 /64 

15 /64 6 /64 

1 /64 

 AaBbCc  AaBbCc

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Nature and Nurture: The Environmental

Impact on Phenotype

•   Another departure from Mendelian genetics

arises when the phenotype for a character 

depends on environment as well as genotype•  The norm of reaction is the phenotypic range

of a genotype influenced by the environment

•  For example, hydrangea flowers of the same

genotype range from blue-violet to pink,depending on soil acidity

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Fi 14 14

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Figure 14.14 

Fi 14 14

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Figure 14.14a 

Fi 14 14b

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Figure 14.14b 

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•  Norms of reaction are generally broadest for 

polygenic characters

•  Such characters are called multifactorial 

because genetic and environmental factorscollectively influence phenotype

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Integrating a Mendelian View of Heredity

and Variation

•   An organism’s phenotype includes its physical

appearance, internal anatomy, physiology, and

behavior •   An organism’s phenotype reflects its overall

genotype and unique environmental history

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Concept 14.4: Many human traits follow

Mendelian patterns of inheritance

•  Humans are not good subjects for genetic

research

 – Generation time is too long

 –  Parents produce relatively few offspring

 –  Breeding experiments are unacceptable

•  However, basic Mendelian genetics endures

as the foundation of human genetics 

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Pedigree Analysis

•   A pedigree is a family tree that describes the

interrelationships of parents and childrenacross generations

•  Inheritance patterns of particular traits can be

traced and described using pedigrees

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Figure 14 15

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Figure 14.15 

Key

Male Female Affectedmale

Affectedfemale

Mating Offspring

1stgeneration

2ndgeneration

3rdgeneration

1stgeneration

2ndgeneration

3rdgeneration

Is a widow’s peak a dominant or recessive trait?

(a) Is an attached earlobe a dominantor recessive trait?

b)

Widow’speak

No widow’speak

Attachedearlobe

Freeearlobe

 FF or 

 Ff  WW  or Ww 

Ww  ww  ww  Ww 

Ww  Ww  Ww ww  ww  ww 

ww 

 Ff    Ff    Ff  

 Ff    Ff  

 ff  

 ff   ff   ff   FF or  Ff  

 ff  

Figure 14 15a

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Figure 14.15a 

Widow’speak

Figure 14 15b

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Figure 14.15b 

No widow’speak

Figure 14.15c

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Figure 14.15c 

Attachedearlobe

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•  Pedigrees can also be used to make

predictions about future offspring

•  We can use the multiplication and addition

rules to predict the probability of specificphenotypes

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Recessively Inherited Disorders

•  Many genetic disorders are inherited in a

recessive manner 

•  These range from relatively mild to life-

threatening

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The Behavior of Recessive Alleles

•  Recessively inherited disorders show up only in

individuals homozygous for the allele

•  Carriers are heterozygous individuals who

carry the recessive allele but are phenotypicallynormal; most individuals with recessive

disorders are born to carrier parents

•   Albinism is a recessive condition characterized

by a lack of pigmentation in skin and hair 

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Figure 14.16 

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ParentsNormal

 Aa 

Sperm

Eggs

Normal Aa 

 AA Normal

 Aa Normal(carrier)

 Aa Normal(carrier)

aa 

Albino

 A 

 A 

Figure 14.16a 

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•  If a recessive allele that causes a disease is

rare, then the chance of two carriers meetingand mating is low

•  Consanguineous matings (i.e., matings

between close relatives) increase the chance

of mating between two carriers of the samerare allele

•  Most societies and cultures have laws or 

taboos against marriages between close

relatives

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Cystic Fibrosis

•  Cystic fibrosis is the most common lethal

genetic disease in the United States,strikingone out of every 2,500 people of European

descent

•  The cystic fibrosis allele results in defective or 

absent chloride transport channels in plasmamembranes leading to a buildup of chloride

ions outside the cell

•  Symptoms include mucus buildup in some

internal organs and abnormal absorption of nutrients in the small intestine

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 Sickle-Cell Disease: A Genetic Disorder with

 Evolutionary Implications

•  Sickle-cell disease affects one out of 400

 African-Americans

• The disease is caused by the substitution of asingle amino acid in the hemoglobin protein inred blood cells

•  In homozygous individuals, all hemoglobin is

abnormal (sickle-cell)•  Symptoms include physical weakness, pain,

organ damage, and even paralysis

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Fig. 14-UN1 

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© 2011 Pearson Education, Inc.

•  Heterozygotes (said to have sickle-cell trait) are

usually healthy but may suffer some symptoms

•   About one out of ten African Americans has

sickle cell trait, an unusually high frequency of an allele with detrimental effects in

homozygotes

•  Heterozygotes are less susceptible to the

malaria parasite, so there is an advantage tobeing heterozygous

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Dominantly Inherited Disorders

•  Some human disorders are caused by

dominant alleles

•  Dominant alleles that cause a lethal disease

are rare and arise by mutation

•   Achondroplasia is a form of dwarfism caused

by a rare dominant allele

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Figure 14.17 

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Parents

Dwarf  Dd  

Sperm

Eggs

 Dd  Dwarf 

dd  Normal

 Dd  Dwarf 

dd  Normal

 D 

d  

d  

d  

Normaldd  

Figure 14.17a 

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•  The timing of onset of a disease significantly

affects its inheritance 

• Huntington’s disease is a degenerative diseaseof the nervous system

•  The disease has no obvious phenotypic effects

until the individual is about 35 to 40 years of age

•  Once the deterioration of the nervous systembegins the condition is irreversible and fatal

 Huntington’s Disease: A Late-Onset Lethal 

 Disease

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Multifactorial Disorders

•  Many diseases, such as heart disease,

diabetes, alcoholism, mental illnesses, andcancer have both genetic and environmental

components

•  Little is understood about the genetic

contribution to most multifactorial diseases

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Genetic Testing and Counseling

•  Genetic counselors can provide information to

prospective parents concerned about a familyhistory for a specific disease

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Counseling Based on Mendelian Genetics

and Probability Rules•  Using family histories, genetic counselors help

couples determine the odds that their childrenwill have genetic disorders

•  Probabilities are predicted on the most

accurate information at the time; predicted

probabilities may change as new informationis available

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Tests for Identifying Carriers

•  For a growing number of diseases, tests are

available that identify carriers and help define theodds more accurately

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Figure 14.18 

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Fetal Testing 

•  In amniocentesis, the liquid that bathes the

fetus is removed and tested

•  In chorionic villus sampling (CVS), a sample

of the placenta is removed and tested

•  Other techniques, such as ultrasound and

fetoscopy , allow fetal health to be assessed

visually in utero

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Video: Ultrasound of Human Fetus I

Figure 14.19 

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(a) Amniocentesis (b) Chorionic villus sampling (CVS)

Ultrasound monitor 

Amniotic

fluidwithdrawn

Fetus

Placenta

Uterus Cervix

Centrifugation

Fluid

Fetalcells

Several hours

Severalweeks

Several weeks

Biochemicaland genetic

tests

Karyotyping

Ultrasoundmonitor 

Fetus

Placenta

Chorionic villi

Uterus

Cervix

Suctiontubeinsertedthroughcervix

Severalhours

Fetal cells

Several hours

1

1

2

2

3

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 Newborn Screening 

•  Some genetic disorders can be detected at birth

by simple tests that are now routinely performedin most hospitals in the United States

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Figure 14.UN03 

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Complete dominanceof one allele

Relationship amongalleles of a single gene

Description Example

Incomplete dominanceof either allele

Codominance

Multiple alleles

Pleiotropy

Heterozygous phenotypesame as that of homo-zygous dominant

Heterozygous phenotypeintermediate betweenthe two homozygous

phenotypes

Both phenotypesexpressed inheterozygotes

In the whole population,some genes have morethan two alleles

One gene is able to affectmultiple phenotypiccharacters

ABO blood group alleles

Sickle-cell disease

 PP  Pp

C RC R C RCW  CW CW 

 I  A I  B

 I  A, I  B, i 

Figure 14.UN04 

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Epistasis

Polygenic inheritance

Relationship amongtwo or more genes

Description Example

The phenotypic

expression of onegene affects thatof another 

A single phenotypiccharacter is affectedby two or more genes

9 : 3 : 4

 BbEe  BbEe BE  BE

bE

bE

 Be

 Be

be

be

 AaBbCc  AaBbCc

Figure 14.UN05 

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Flower position

Stem length

Seed shape

Character  Dominant Recessive

Axial ( A)

Tall (T )

Round (R )

Terminal (a)

Dwarf (t )

Wrinkled (r )

Figure 14.UN06 

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Figure 14.UN07

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George Arlene

Sandra Tom Sam Wilma Ann Michael

Carla

Daniel Alan Tina

Christopher 

Figure 14.UN08

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Figure 14.UN09

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Figure 14.UN10

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Figure 14.UN11

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Figure 14.UN12

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Figure 14.UN13

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Figure 14.UN14

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