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Patterns of Inheritance: Biology: Concepts & Connections
Patterns of Inheritance: Biology: Concepts & Connections
Chinese Shar-Pei
Ancestral
canine
Akita Siberian Husky
Afghan hound
Saluki
Rottweiler
Sheepdog
Retriever
MENDEL’S LAWS
Stamen
Carpel
White
1 Removed
stamens from
purple flower
Stamens
Carpel 2 Transferred
Parents pollen from stamens of white
Purple
(P) flower to carpel of purple flower
White
1 Removed
stamens from
purple flower
Stamens
Carpel 2 Transferred
Parents pollen from stamens of white
Purple
(P) flower to carpel of purple flower
3 Pollinated carpel
matured into pod
White
1 Removed
stamens from
purple flower
Stamens
Carpel 2 Transferred
Parents pollen from stamens of white
Purple
(P) flower to carpel of purple flower
3 Pollinated carpel
matured into pod
4 Planted seeds
from pod
Offspring
(F1)
Flower color Purple White
Fertilization
among F1 plants
(F1 ´ F1)
F2 generation
3 1
– of
– of plants plants
4 4
have purple flowers have white flowers
9.3 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
F1 plants
All Pp
(hybrids)
1
– 1
Gametes P – p
2 2
Sperm
P p
P a b
Recessive
allele
Genotype: PP aa Bb
Homozygous Homozygous Heterozygous
for the for the
dominant allele recessive allele
9.5 The law of independent assortment is
revealed by tracking two characters at once
Example of a dihybrid 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
Copyright © 2009 Pearson Education, Inc.
9.5 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
– For genotype RrYy, four gamete types are possible:
RY, Ry, rY, and ry
Gametes RY ry Gametes RY ry
F1 RrYy RrYy
generation
Sperm Sperm
1
– 1 1 1
RY – rY – Ry – ry
4 4 4 4
1
– 1
–
2 RY 2 ry
1
–
F2 4 RY
1
–
generation 2 RY RRYY RrYY RRYy RrYy
Eggs 1
– rY
1 4
– ry RrYY rrYY RrYy rrYy
2 Eggs
1 9 Yellow
– ––
4 Ry 16 round
RRYy RrYy RRyy Rryy
3
––
Green
16 round
1
–
Hypothesized 4 ry
3
–– Yellow
(not actually seen) RrYy rrYy Rryy rryy 16
wrinkled
Actual results 1
–– Green
(support hypothesis) 16
wrinkled
Blind Blind
Phenotypes Black coat, normal vision Black coat, blind (PRA) Chocolate coat, normal vision Chocolate coat, blind (PRA)
Genotypes B_N_ B_nn bbN_ bbnn
Phenotypic ratio 9 black coat, 3 black coat, 3 chocolate coat, 1 chocolate coat,
of offspring normal vision blind (PRA) normal vision blind (PRA)
9.6 Geneticists use the testcross to determine
unknown genotypes
Testcross
– Mating between an individual of unknown genotype
and a homozygous recessive individual
– Will show whether the unknown genotype includes a
recessive allele
– Used by Mendel to confirm true-breeding genotypes
Genotypes B_ bb
Gametes B B b
b Bb b Bb bb
Rule of addition
– Add probabilities of events that can happen in
alternate ways
Formation of sperm
Bb female
Formation of eggs
1 1
–
– B 2 b
2
B B B b
1
–
2 B
1
– 1
–
4 4
1 b B b b
– b
2
1
– 1
–
4 4
F2 genotypes
9.8 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
Freckles No freckles
Second generation
(parents, aunts,
and uncles) FF ff ff Ff Ff ff
or
Ff
Third generation
(two sisters)
ff FF
or
Female Male Ff
Affected
Unaffected
9.9 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
Copyright © 2009 Pearson Education, Inc.
Parents Normal Normal
Dd ´ Dd
Sperm
D d
Dd
DD
D Normal
Normal
(carrier)
Offspring Eggs
Dd dd
d Normal Deaf
(carrier)
9.10 CONNECTION: New technologies can
provide insight into one’s genetic legacy
Genetic testing of parents
Fetal testing: biochemical and karyotype analyses
– Amniocentesis
– Chorionic villus sampling
Fetus
Fetus
Placenta Placenta
Chorionic
Uterus villi
Cervix Cervix
Uterus
Amniotic Centrifugation
fluid
Fetal Fetal
cells cells
Biochemical
tests
Several Several
weeks hours
Karyotyping
VARIATIONS ON MENDEL’S
LAWS
Red White
RR rr
Gametes R r
F1 generation
Pink
Rr
1
– 1
Gametes R – r
2 2
Sperm
1
– 1
R – r
2 2
F2 generation 1
– RR rR
2 R
Eggs
1
– Rr rr
2 r
Genotypes:
HH Hh hh
Homozygous Heterozygous Homozygous
for ability to make for inability to make
LDL receptors LDL receptors
Phenotypes:
LDL
LDL
receptor
Cell
Normal Mild disease Severe disease
9.12 Many genes have more than two alleles in
the population
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
O ii Anti-A
Anti-B
I AI A
A or Carbohydrate A Anti-B
I Ai
IBIB
B or Carbohydrate B Anti-A
IBi
AB IAIB —
Blood
Group
(Phenotype) Genotypes Red Blood Cells
O ii
IAIA
A or Carbohydrate A
IAi
IBIB
B or Carbohydrate B
IBi
AB IAIB
Blood Antibodies Reaction When Blood from Groups Below Is Mixed
Group Present in with Antibodies from Groups at Left
(Phenotype) Blood
O A B AB
O Anti-A
Anti-B
A Anti-B
B Anti-A
AB —
9.13 A single gene may affect 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
Sickle cells
Clumping of cells
Breakdown of Accumulation of
and clogging of
red blood cells sickled cells in spleen
small blood vessels
aabbcc AABBCC
(very light) (very dark)
F1 generation
AaBbCc AaBbCc
Sperm
1
– 1 1 1 1 1 1 1
– – – – – – –
8 8 8 8 8 8 8 8
F2 generation
1
–
8
1
–
8
1
–
8 20
––
64
1
–
8
Eggs
1
Fraction of population
– 15
8 ––
64
1
–
8
1
–
8
1
–
8
6
––
64
1
––
64
1 6 15 20
–– 15 6
–– 1
––
–– –– –– –– Skin color
64 64 64 64 64 64 64
P generation
aabbcc AABBCC
(very light) (very dark)
F1 generation
AaBbCc AaBbCc
Sperm
1
– 1 1 1 1 1 1 1
– – – – – – –
F2 generation 8 8 8 8 8 8 8 8
1
–
8
1
–
8
1
–
8
1
–
8
Eggs
1
–
8
1
–
8
1
–
8
1
–
8
1 6 15 20
–– 15 6
–– 1
––
–– –– –– ––
64 64 64 64 64 64 64
20
––
64
Fraction of population
15
––
64
6
––
64
1
––
64
Skin color
9.15 The environment affects many characters
R r r R
Metaphase I
y
of meiosis Y y
Y
(alternative
arrangements)
All round yellow seeds
F1 generation R (RrYy)
y
r
Y
R r r R
Metaphase I
y
of meiosis Y y
Y
(alternative
arrangements)
R r r R
Anaphase I
Y y of meiosis Y y
R r r R
Metaphase II
Y y of meiosis Y y
All round yellow seeds
F1 generation R (RrYy)
y
r
Y
R r r R
Metaphase I
y
of meiosis Y y
Y
(alternative
arrangements)
R r r R
Anaphase I
Y y of meiosis Y y
R r r R
Metaphase II
Y y of meiosis Y y
y
Gametes
Y Y y Y Y y y
R R r r r r R R
1 1 1
–
1 – ry – rY Ry
– RY 4 4 4
4
Fertilization among the F1 plants
F2 generation 9 :3 :3 :1
9.17 Genes on the same chromosome tend to be
inherited together
Linked Genes
– Are located close together on the same chromosome
– Tend to be inherited together
Purple flower
Observed Prediction
Phenotypes offspring (9:3:3:1)
Purple long 284 215
Purple round 21 71
Red long 21 71
Red round 55 24
Parental PL
diploid cell
PpLl pl
Meiosis
Most PL pl
gametes
Fertilization
Sperm
PL pl
PL PL
PL
Most PL pl
offspring Eggs
pl pl
pl
PL pl
Purple flower
Observed Prediction
Phenotypes offspring (9:3:3:1)
Purple long 284 215
Purple round 21 71
Red long 21 71
Red round 55 24
Explanation: linked genes
Parental PL
diploid cell
PpLl pl
Meiosis
Most PL pl
gametes
Fertilization
Sperm
PL pl
PL PL
PL
Most PL pl
offspring Eggs
pl pl
pl
PL pl
a b a B a b
Tetrad Crossing over
Gametes
Experiment
Gray body, Black body,
long wings vestigial wings
(wild type)
GgLl ggll
Female Male
Offspring
Gray long Black vestigial Gray vestigial Black long
Parental Recombinant
phenotypes phenotypes
Explanation
GL g l
GgLl ggll
(female) (male)
g l g l
GL g l Gl gL g l
Eggs Sperm
GL g l Gl gL
g l g l g l g l
Offspring
Experiment
Gray body, Black body,
long wings vestigial wings
(wild type)
GgLl ggll
Female Male
Offspring
Gray long Black vestigial Gray vestigial Black long
Parental Recombinant
phenotypes phenotypes
GL g l Gl gL gl
Eggs Sperm
GL gl Gl gL
gl gl gl gl
Offspring
9.19 Geneticists use crossover data to map genes
Genetic maps
– Show the order of genes on chromosomes
– Arrange genes into linkage groups representing
individual chromosomes
17%
9% 9.5%
Recombination
frequencies
Mutant phenotypes
Short Black Cinnabar Vestigial Brown
aristae body eyes wings eyes
(g) (c) (l)
Y
(male) (female)
44 Parents’ 44
+ +
XY diploid XX
cells
22 22 22
+ + +
X Y X
Sperm Egg
44 Offspring 44
+ +
XX (diploid) XY
22 22
+ +
XX X
76 76
+ +
ZW ZZ
32 16
9.21 Sex-linked genes exhibit a unique pattern of
inheritance
Sex-linked genes are located on either of the
sex chromosomes
– Reciprocal crosses show different results
– White-eyed female red-eyed male red-eyed females
and white-eyed males
– Red-eyed female white-eyed male red-eyed females
and red-eyed males
XR XR Xr Y
Sperm
Xr Y
Eggs XR XR Xr XR Y
R = red-eye allele
r = white-eye allele
Female Male
XR Xr XR Y
Sperm
XR Y
XR XR XR XR Y
Eggs
Xr Xr XR Xr Y
Female Male
XR Xr Xr Y
Sperm
Xr Y
XR XR XR XR Y
Eggs
Xr Xr Xr Xr Y
9.22 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
Alice Louis
Alexandra Czar
Nicholas II
of Russia
Alexis
9.23 EVOLUTION CONNECTION: The Y
chromosome provides clues about human
male evolution
Similarities in Y chromosome sequences
– Show a significant percentage of men related to the
same male parent
– Demonstrate a connection between people living in
distant locations
Meiosis
Gamete Diploid zygote
from other (containing
parent paired alleles)
Paired alleles,
alternate forms
of a gene Haploid gametes
(allele pairs separate)
Incomplete
dominance
Polygenic
Multiple inheritance
Single characters
genes (such as skin color)
Genes
located alternative
on versions called
chromosomes (a)
expressed unexpressed
allele called allele called
(d) (e)
(f)
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