CHAPTER 9 GENETICS
Jan 02, 2016
CHAPTER 9
GENETICS
MENDEL’S LAWS
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Flower color White
Axial
Purple
Flower position Terminal
YellowSeed color Green
RoundSeed shape Wrinkled
InflatedPod shape Constricted
GreenPod color Yellow
TallStem length Dwarf
Mendel’s law of segregation describes the inheritance of a single character
Example of a monohybrid (HETEROZYGOUS) cross • Parental generation (HOMOZYGOUS): purple flowers
white flowers• F1 generation: all plants with purple flowers • F2 generation: ¾ of plants with purple flowers
¼ of plants with white flowers Mendel needed to explain
• Why one trait seemed to disappear in the F1 generation• Why that trait reappeared in one quarter of the F2
offspring
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P generation(true-breedingparents)
Purple flowers White flowers
F1 generation All plants havepurple flowers
F2 generation
Fertilizationamong F1 plants(F1 F1)
of plantshave purple flowers
3–4 of plants
have white flowers
1–4
Mendel’s law of segregation describes the inheritance of a single character
Four Hypotheses 1. Genes are found in alternative versions called ALLELES; a
GENOTYPE is the listing of alleles an individual carries for a specific gene
2. For each characteristic, an organism inherits two alleles, one from each parent; the alleles can be the same or different
– A homozygous genotype has identical alleles
– A heterozygous genotype has two different alleles
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Mendel’s law of segregation describes the inheritance of a single character
Four Hypotheses 3. If the alleles differ, the DOMINANT allele determines the
organism’s appearance, and the RECESSIVE allele has no noticeable effect
– The PHENOTYPE is the appearance or expression of a trait
– The same phenotype may be determined by more than one GENOTYPE (the alleles carried by the organism)
4. Law of segregation: Allele pairs separate (segregate) from each other during the production of gametes (MEIOSIS) so that a sperm or egg carries only one allele for each gene
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P plants
1–2
1–2
Genotypic ratio1 PP : 2 Pp : 1 pp
Phenotypic ratio3 purple : 1 white
F1 plants(hybrids)
Gametes
Genetic makeup (alleles)
All
All Pp
Sperm
Eggs
PP
p
ppPp
Pp
P
pP
pP
P
p
PP pp
All
Gametes
F2 plants
F1 genotypes
1–2
1–2
1–2
1–2
1–4
1–4
1–4
1–4
Formation of eggs
Bb female
F2 genotypes
Formation of sperm
Bb male
B
BB B B
B
b
b
bbbb
COIN TOSS DEMONSTRATION
• 4 students toss coin once…RESULTS?
• 4 students toss coin 3 times…RESULTS?
• All students toss coin once…RESULTS?
• All students toss coin 3 times…RESULTS?
Homologous chromosomes bear the alleles for each character
For a pair of homologous chromosomes, alleles of a gene reside at the same locus
• Homozygous individuals have the same allele on both homologous chromosome
• Heterozygous individuals have a different allele on each homologous chromosome
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Gene loci
Homozygousfor thedominant allele
Dominantallele
Homozygousfor therecessive allele
Heterozygous
Recessive allele
Genotype:
P Ba
P
PP
a
aa
b
Bb
HUMAN EXAMPLESof
Dominant and Recessive Genes
Freckles
Widow’s peak
Free earlobe
No freckles
Straight hairline
Attached earlobe
Dominant Traits Recessive Traits
CLASSROOM EXAMPLE
• How many students have free earlobes?
• How many students have attached earlobes?
• Which trait (phenotype) is caused by the DOMINANT gene?
CLASSROOM EXAMPLE (cont.)
• Free earlobe gene = F• Attached earlobe gene = f• What are the possible GENOTYPES for earlobe
shape in the human population?
• What PHENOTYPES are produced by the different genotypes?
CLASSROOM EXAMPLE (cont.)
• A genetics problem:If Mary has attached earlobes and John has free
earlobes (John’s mother has attached earlobes) what are the chances that their children will have attached earlobes? Free earlobes?
Use a PUNNETT SQUARE to prove your answer!
CLASSROOM EXAMPLE
1.) Determine the possible genotypes for Mary and John.
2.) Create a PUNNETT SQUARE.
3.) Determine the PHENOTYPES of the children.
CONNECTION: Genetic traits in humans can be tracked through family pedigrees
A pedigree • Shows the inheritance of a trait in a family
through multiple generations• Demonstrates dominant or recessive inheritance• Can also be used to deduce genotypes of family
members
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Ff
Female Male
Attached
Free
First generation(grandparents)
Second generation(parents, aunts,and uncles)
Third generation(two sisters)
Ff Ff
Ff
Ff Ff
Ff
ff
ff ff ff
ff
FF
FF
or
or
MORE GENETICS PROBLEMS
• See LAB MANUAL…
The law of independent assortment is revealed by tracking two characters at once
Example of a dihybrid (HETEROZYGOUS) cross
• Parental generation: round yellow seeds wrinkled green seeds • F1 generation: all plants with round yellow seeds • F2 generation: 9/16 of plants with round yellow seeds
3/16 of plants with round green seeds 3/16 of plants with wrinkled yellow
seeds 1/16 of plants with wrinkled green
seeds Mendel needed to explain
• Why nonparental combinations were observed • Why a 9:3:3:1 ratio was observed among the F2 offspring
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The law of independent assortment is revealed by tracking two characters at once
Law of independent assortment • Each pair of alleles segregates
independently of the other pairs of alleles during gamete formation
• R = round; r = wrinkledY = yellow; y = green
• For genotype RrYy, four gamete types are possible: RY, Ry, rY, and ry
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P generation
1–2
Hypothesis: Dependent assortment Hypothesis: Independent assortment
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
RRYY
Gametes
Eggs
F1
generation
SpermSperm
F2
generation
Eggs
Gametes
rryy
RrYy
ryRY
ryRY
ry
RY
Hypothesized(not actually seen)
Actual results(support hypothesis)
RRYY rryy
RrYy
ryRY
RRYY
rryy
RrYy
ry
RY
RrYy
RrYy
RrYy
rrYYRrYY
RRYyRrYY
RRYy
rrYy
rrYy
Rryy
Rryy
RRyy
rY
Ry
ry
Yellowround
Greenround
Greenwrinkled
Yellowwrinkled
RY rY Ry
F1 generation R
Metaphase Iof meiosis(alternative
arrangements)
r
Y
y
Rr
Y y
R r
Y y
All round yellow seeds(RrYy)
F1 generation R
Metaphase Iof meiosis(alternative
arrangements)
r
Y
y
Rr
Y y
R r
Y y
All round yellow seeds(RrYy)
Anaphase Iof meiosis
Metaphase IIof meiosis
R
y
r
Y
r
y
R
Y
R r
Y y
Rr
Y y
F1 generation R
Metaphase Iof meiosis(alternative
arrangements)
r
Y
y
Rr
Y y
R r
Y y
All round yellow seeds(RrYy)
Anaphase Iof meiosis
Metaphase IIof meiosis
R
y
r
Y
r
y
R
Y
R r
Y y
Rr
Y y
1–4
R
y
Ry
R
y
r
Y
1–4 rY
r
Y
1–4 ry
r
y
1–4RY
R
Y
R
YGametes
Fertilization among the F1 plants
:39 :3 :1F2 generation
r
y
QUESTION…
• Why would genes independently assort even if they are on the same chromosome???
HINT: Think Prophase I (meiosis)…
Gametes
Tetrad Crossing over
Yr yrr y
R YR Y R y
CONNECTION: Many inherited disorders in humans are controlled by a single gene
Inherited human disorders show• Recessive inheritance
– Two recessive alleles are needed to show disease– Heterozygous parents are carriers of the disease-
causing allele– Probability of inheritance increases with inbreeding,
mating between close relatives• Dominant inheritance
– One dominant allele is needed to show disease– Dominant lethal alleles are usually eliminated from
the population
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EXAMPLES of HUMAN DISORDERS
The next slide lists a number of Recessive and Dominant AUTOSOMAL disorders…
AUTOSOMAL means that the defective gene is found on one of the autosomes.
AUTOSOMES = Chromosomes that are NOT one of the sex chromosomes
SEX Chromosomes = The X or Y chromosomes that determine the sex of the human
XX = Female XY = Male
Genetics Problem
• Cystic Fibrosis (Autosomal Recessive):• If Mary and John are both heterozygous
(carriers) for the cystic fibrosis gene, what are the chances that their children will have cystic fibrosis???
Parents NormalCarrierCc
Offspring
Sperm
Eggs
ccCystic
Fibrosisc
CcNormal(carrier)
CCNormalC
C c
CcNormal(carrier)
NormalCarrierCc
Genetics Problem
• Huntington’s (Autosomal Dominant):• Only Genotypes = Hh (Huntington’s) or hh
(normal)• If Mary is normal and John will eventually
develop Huntington’s disease, what are the chances that their children will develop Huntington’s disease???
Parents Maryhh
Offspring
Sperm
Eggshh
Normal
h
hhNormal
HhHuntington’s
h
H h
HhHuntington’s
JohnHh
VARIATIONS ON MENDEL’S LAWS
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Incomplete dominance results in intermediate phenotypes
Incomplete dominance• Neither allele is dominant over the other• Expression of both alleles is observed as an
intermediate phenotype in the heterozygous individual
Copyright © 2009 Pearson Education, Inc.
Flower Color in Plants…
P generation
1–2
1–2
1–2
1–2
1–2
1–2
F1 generation
F2 generation
RedRR
Gametes
Gametes
Eggs
Sperm
RR rR
Rr rr
R
r
R r
R r
PinkRr
R r
Whiterr
Hypercholesterolemia in Humans…
HHHomozygous
for ability to makeLDL receptors
hhHomozygous
for inability to makeLDL receptors
HhHeterozygous
LDL receptor
LDL
CellNormal Mild disease Severe disease
Genotypes:
Phenotypes:
Sickle Cell Anemia in Humans
• HH = Normal Hemoglobin• Hh = Sickle Cell Trait• hh = Sickle Cell Anemia
The sickle cell gene also affects many phenotypic characters
Pleiotropy• One gene influencing many characteristics• The gene for sickle cell disease
– Affects the type of hemoglobin produced– Affects the shape of red blood cells– Causes anemia– Causes organ damage– Is related to susceptibility to malaria
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Clumping of cellsand clogging of
small blood vessels
Pneumoniaand otherinfections
Accumulation ofsickled cells in spleen
Pain andfever
Rheumatism
Heartfailure
Damage toother organs
Braindamage
Spleendamage
Kidneyfailure
Anemia
ParalysisImpairedmental
function
Physicalweakness
Breakdown ofred blood cells
Individual homozygousfor sickle-cell allele
Sickle cells
Sickle-cell (abnormal) hemoglobin
Abnormal hemoglobin crystallizes,causing red blood cells to become sickle-shaped
Genetics Problem: Sickle Cell Anemia
• If Mary has normal hemoglobin and John has sickle cell anemia, what are the chances that their children will have sickle cell anemia? Will have sickle cell trait? Will have normal hemoglobin?
Sickle Cell Anemia Problem (cont.)
• What is Mary’s genotype?• What is John’s genotype?• Create the Punnett Square…
Many genes have more than two alleles in the population: MULTIPLE ALLELES
Multiple alleles• More than two alleles are found in the
population• A diploid individual can carry any two of
these alleles• The ABO blood group has three alleles,
leading to four phenotypes: type A, type B, type AB, and type O blood
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CODOMINANCE
Codominance• Neither allele is dominant over the
other• Expression of both alleles is observed
as a distinct phenotype in the heterozygous individual
• Observed for type AB blood
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BloodGroup(Phenotype) Genotypes
O
A
ii
IAIA
orIAi
Red Blood Cells
Carbohydrate A
AntibodiesPresent inBlood
Anti-AAnti-B
Reaction When Blood from Groups Below Is Mixedwith Antibodies from Groups at Left
Anti-B
O A B AB
BIBIB
orIBi
Carbohydrate B
AB IAIB —
Anti-A
GENETICS PROBLEMS
• ABO BLOOD TYPE…See Lab Manual
A single character may be influenced by many genes: POLYGENIC INHERITANCE
Polygenic inheritance• Many genes influence one trait• Skin color is affected by at least three genes
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P generation
1–8
F1 generation
F2 generation
Fra
ctio
n o
f p
op
ula
tio
n
Skin color
Eggs
Sperm1–8
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
aabbcc(very light)
AABBCC(very dark)
AaBbCc AaBbCc
1––64
15––64
6––64
1––64
15––64
6––64
20––64
1––64
15––64
6––64
20––64
The environment affects many characters
Phenotypic variations are influenced by the environment
• Skin color is affected by exposure to sunlight • Susceptibility to diseases, such as cancer, has
hereditary and environmental components
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SEX CHROMOSOMES AND
SEX-LINKED GENES
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Chromosomes determine sex in many species
X-Y system in mammals (HUMANS), fruit flies
• XX = female; XY = male X-O system in grasshoppers and roaches
• XX = female; XO = male
Z-W in system in birds, butterflies, and some fishes• ZW = female, ZZ = male
Chromosome number in ants and bees• Diploid = female; haploid = male
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X
Y
GENETICS PROBLEM
• What are the chances that Mary and John’s children will be Boys? Girls?
• Mary = XX• John = XY• Create a PUNNETT SQUARE…
CONNECTION: Sex-linked disorders affect mostly males
Males express X-linked disorders such as the following when recessive alleles are present in one copy
• Hemophilia• Colorblindness• Duchenne muscular dystrophy
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QueenVictoria
Albert
Alice Louis
Alexandra CzarNicholas IIof Russia
Alexis
GENETICS PROBLEMS
• SEX LINKED TRAITS…See Lab Manual