Observable Patterns of Inheritance

Earlobe Variation 
Whether a person has attached or
detached earlobes depends on a single gene  Attached earlobes: two copies of the recessive allele for this gene  Detached earlobes: either one or two copies of the dominant allele

Early Ideas about Heredity 
People knew that sperm and eggs
transmitted information about traits  Blending theory  Problem: 
Would expect variation to disappear  Variation in traits persists

Gregor Mendel
in plant breeding and mathematics  Using pea plants, found indirect but observable evidence of how parents transmit genes to offspring 

Strong background

Comments: Gene 
Mendel never used the term, gene, gene,
although he clearly made a distinction between, genotypes and phenotypes.  The term, gene, was coined by Wilhelm Johannsen (1909) based on the term, Pangenisis which Hugo de Vries (1889) used to describe Mendel¶s concept of inherited units that determine phenotypes.

Genes 
Units of information about specific traits  Passed from parents to offspring  Each has a specific location (locus) on a
chromosome

Alleles 
Different molecular forms of a gene  Arise by mutation  Dominant allele masks a recessive
allele that is paired with it

Allele Combinations 
Homozygous 
having two identical alleles at a locus  AA or aa 

Heterozygous 
having two different alleles at a locus  Aa

Genetic Terms
A pair of homologous chromosomes

Figure 11.4 Page 179
A gene locus

A pair of alleles

Three pairs of genes

Figure 11.4 Page 179

Genotype & Phenotype 
Genotype refers to particular genes an
individual carries 

Phenotype refers to an individual¶s
observable traits 

Cannot always determine genotype by
observing phenotype

Parental generation P mates to produce First-generation offspring F1 mate to produce Second-generation offspring F2

Monohybrid Crosses
Experimental intercross between two F1 heterozygotes AA X aa Aa X Aa Aa (F1 monohybrids) ?

Mendel¶s Monohybrid Cross Results
F2 plants showed dominant-torecessive ratio that averaged 3:1

5,474 round

1,850 wrinkled 2,001 green

6,022 yellow

882 inflated 428 green

299 wrinkled

152 yellow

705 purple

224 white

651 long stem

207 at tip

Figure 11.5 Page 180

787 tall

277 dwarf

Probability
The chance that each outcome of a given event will occur is proportional to the number of ways that event can be reached

Monohybrid Cross Illustrated

True-breeding homozygous recessive parent plant

F1 PHENOTYPES

aa
True-breeding homozygous dominant a parent plant

Aa a Aa Aa Aa

Aa

A AA A

Aa Aa

Aa

An F1 plant self-fertilizes and produces gametes:

F2 PHENOTYPES

Aa AA A A AA a Aa aa Aa aa Aa

Figure 11.7 Page 181

a

Aa

Monohybrid Cross #1 
Long hair is dominant to short hair in
guinea pigs. Show the results of a cross between a homozygous short haired male and a pure long haired female.

Monohybrid Cross #1 
What do we know?  Both parents are homologous.  Short haired male hh  Long haired female HH (³H´ gene is
dominant)  hh x HH  Draw the Punnett Square

#1 Punnett Square 
hh x HH
H H
Meiosis 2n -> n Ova

h

Hh

Hh zygotes

h

Hh

Hh

sperm All of the F1¶s are hybrids, or heterogenous and they are long haired.

Monohybrid #2 
What is the probability that a cross
between two guinea pigs both heterogeneous for long would produce a short haired guinea pig?

Monohybrid #2 
Hh x Hh  Draw the Punnett square
H H h h 

Complete the problem (p = ¼ or 25%)

Monohybrid #3 
In Holstein cattle the spotting of the coat is
due to a recessive allele while the solid colored coat is controlled by a dominant allele. What types of offspring might be produced by a cross between two spotted animals?

Monohybrid #3 
Cross: spotted cow x spotted cow  Cross: ss x ss 
(where S = solid and s = spotted) 

Is it possible to have a solid calf?

Monohybrid #4 
In lemurs brown eyes are dominant over
blue eyes. If a heterozygous brown eyed female mates with a blue eyed male, what would be the expected genotypic and phenotypic ratios of their offspring?

Monohybrid #4 
Cross: Brown eyed heterozygous female
and a blue eyed male (homozygous)  B = brown and b = blue 

Bb x bb = 2 Bb and 2 bb  Genotypic ratio  Bb:bb 1:1  Phenotypic ratio  Brown: blue 1:1

Monohybrid Problem Set 1 On the Web Courtesy of the University of Arizona 

Form cooperative groups of 2 to 4 and  Solve the problems in the Monohybrid
Problem Set.  We¶ll check the answers in class.  Monohybrid Cross Problem Set  http://www.biology.arizona.edu/mendelian _genetics/problem_sets/monohybrid_cros s/monohybrid_cross.html

Monohybrid Problem Set 2 
In unit 2 of Scribd you¶ll find a word
document with some additional monohybrid probles (Mono Hybrid Crosses Key). You are responsible for mastering this too.  http://www.scribd.com/doc/38884141/Mon o-Hybrid-Crosses-Key Hybrid-Crosses-

Mendel¶s Theory of Segregation 
An individual inherits a unit of information
(allele) about a trait from each parent 

During gamete formation, the alleles
segregate from each other

Test Cross 
Individual that shows dominant phenotype
is crossed with individual with recessive phenotype 

Examining offspring allows you to
determine the genotype of the dominant individual
BB or Bb ? Both brown phenotypes

Punnett Squares of Test Crosses
Homozygous recessive a a A a Aa aa Aa aa A A Homozygous recessive a a Aa Aa Aa Aa

Two phenotypes 1:1

All dominant phenotype

Dihybrid Cross

Experimental cross between individuals that are homozygous for different versions of two traits (Note: You¶ll not have any dihybrid problems to solve on any test)

Dihybrid Cross: F1 Results
TRUEBREEDING PARENTS: purple flowers, tall AABB x aabb white flowers, dwarf

GAMETES:

AB

AB AaBb

ab

ab

F1 HYBRID OFFSPRING:

All purple-flowered, tall

Figure 11.9 (1) Page 183

Dihybrid Cross: F2 Results
AaBb X AaBb 1/4 AB 1/4 Ab 1/4 aB 1/4 AB 1/16 AABB 1/16 AABb 1/16 AaBB 1/16 AaBb 1/16 AABb 1/16 AAbb 1/16 AaBb 1/16 Aabb 1/16 AaBB 1/16 AaBb 1/16 aaBB 1/16 aaBb 1/4 ab 1/16 AaBb 1/16 Aabb 1/16 aaBb 1/16 aabb 9/16 purple-flowered, tall 3/16 purple-flowered, dwarf 3/16 white-flowered, tall 1/16 white-flowered, dwarf

1/4 Ab

1/4 aB

1/4 ab

Figure 11.9(2) Page 183

Independent Assortment 
Mendel concluded that the two ³units´ for
the first trait were to be assorted into gametes independently of the two ³units´ for the other trait 

Members of each pair of homologous

chromosomes are sorted into gametes at random during meiosis

Independent Assortment

Metaphase I:
A B A a B b a b

OR
a b a b A b A b

A b

A a b B

a B

Metaphase II:
A B A B a B a B

Gametes:

B A A 1/4 AB

B a

b a 1/4 ab

b A

b A 1/4 Ab

b a

B a 1/4 aB

B

Tremendous Variation
Number of genotypes possible in offspring as a result of independent assortment and hybrid crossing is 2n (n is the number of gene loci at which the parents differ)

Impact of Mendel¶s Work 
Mendel presented his results in 1865  Paper received little notice  Mendel discontinued his experiments in
1871 

Paper rediscovered in 1900

Dominance Relations
Complete dominance Incomplete dominance Codominance

Incomplete Dominance

X Incomplete Homozygous Homozygous parent parent Dominance All F1 are heterozygous

X

Figure 11.10 Page 184 F2 shows three phenotypes in 1:2:1 ratio

Codominance: ABO Blood Types 
Gene that controls ABO type codes for
enzyme that dictates structure of a glycolipid on blood cells 

Two alleles (IA and IB) are codominant (I
when paired 

Third allele (i) is recessive to others (i

ABO Blood Type: Allele Combinations
Range of genotypes: IA IA or IA i IA IB IB IB or IB i ii

Blood types:

A

AB

B

O

Figure 11.11 Page 184

ABO and Transfusions 
Recipient¶s immune system will attack
blood cells that have an unfamiliar glycolipid on surface 

Type O is universal donor because it has
neither type A nor type B glycolipid

Pleiotropy 
Alleles at a single locus may have effects
on two or more traits 

Marfan syndrome - Mutation in gene for
fibrillin affects skeleton, cardiovascular system, lungs, eyes, and skin

Marfan Syndrome

Campodactyly: Unexpected Phenotypes 
Effect of allele varies: 
Bent fingers on both hands  Bent fingers on one hand  No effect 

Many factors affect gene expression

Continuous Variation 
A more or less continuous range of small
differences in a given trait among individuals 

The greater the number of genes and
environmental factors that affect a trait, the more continuous the variation in versions of that trait

Human Variation 
Some human traits occur as a few discrete
types 
Attached or detached earlobes  Many genetic disorders 

Other traits show continuous variation 
   Height Weight Eye color IQ

Polygenic Inheritance 
Suppose height in humans is controlled by
three sets of genes each on a different chromosome (independently assorted). Assume that each dominant allele contributes ³1 unit of height´ and a recessive allele produces only ³½ unit of height´.  Two average heigth parents have the genotypes:  AaBbCc x AaBbCc

Polygenic Inheritance 
Each parent can produce 8 gametic gene
combinations:  ABC, ABc, AbC, aBC, Abc, aBc, abC, abc ABc, AbC, aBC, Abc, aBc, abC,  What size Punnett Square would we need?

ABC

AB c

Ab C

aB C

ab C AaBb CC AaBb Cc AabbC C aaBb CC aabb CC aaBb Cc Aabb Cc aabb Cc

aB c AaBB Cc AaBB cc AaBb Cc aaBB Cc aaBb Cc aaBB cc AaBb cc aaBbc c

A bc
AABb Cc AABb cc AAbb Cc AaBb Cc AaBb cc AaBb cc AAbb cc Aabb cc

ab c AaBb Cc AaBb cc Aabb Cc aaBb Cc aabb Cc aaBbc c Aabb cc
aabbcc

ABC

AAB BCC
AABB Cc AABb CC AaBB CC AaBb CC AaBB Cc AABb Cc

AABB Cc AABB cc AABb Cc AaBB Cc AaBb Cc

AABb CC AABb Cc AAbb CC AaBb CC Aabb CC

AaBB CC
AaBB Cc
AaBbC C

ABc

AbC

aBC abC aBc Abc `abc

aaBB CC

aaBb CC

AaBB cc AABb cc AaBb cc

AaBb Cc AAbb Cc Aabb Cc

aaBB Cc AaBb Cc aaBb Cc

AaBb Cc

6 units

5.5 units 5 units

4.5 units 4 units

Polygenic inheritance produces a more or less continuous distribution of phenotypes. The more genes involved, the smoother the distribution. Parents AaBbCc 4.5 units each

3.5 units 3 units

Roughly bell shaped

Describing Continuous Variation

Number of individuals with some value of the trait

(line of bell-shaped curve indicates continuous variation in population)

Range of values for the trait

Number of individuals with some value of the trait

Range of values for the trait

Temperature Effects on Phenotype 
Rabbit is homozygous for
an allele that specifies a heatheat-sensitive version of an enzyme in melaninmelaninproducing pathway  Melanin is produced in cooler areas of body
Figure 11.18 Page 190

Environmental Effects on Plant Phenotype 
Hydrangea macrophylla  Action of gene responsible for floral
color is influenced by soil acidity  Flower color ranges from pink to blue

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