BIOLOGY FORM 5
CHAPTER 5
INHERITANCE
INHERITANCE
is the study of heredity
is the process in which traits are passed
from parents to offspring
Characters or Traits are resemblances
or differences which can be:
Seen e.g.
eye colour
flower colour
Tested for e.g.
blood groups
colour blindness
Gregor Mendel
(1822-1884)
Austrian monk who
formulated fundamental laws
of heredity in early 1860s
Experimented with peas
Over seven years, he made
crosses with 24,034 plants
Called the “Father of Genetics“
6
Mendel’s Experimental
Methods
Mendel hand-pollinated
flowers using a paintbrush
He could snip (cut) the
stamens to prevent
self-pollination
He traced traits through
the several generations
7
8
How Mendel Began?
Mendel
produced
pure
strains by
allowing the
plants to
self-
pollinate
for several
generations
9
10
11
Mendel stated that
physical traits are
inherited as “particles”
Mendel did not know
that the “particles”
were actually
Chromosomes & DNA
Particulate Inheritance
Let’s revise:
Genes:
 control the characteristics of living organisms
 are carried on the chromosomes
Chromosomes are in pairs, one from each
parent
Genes are in pairs
Genes controlling the same characteristics
occupy identical positions on homologous
chromosomes
The gene pairs control one characteristic
gene for
eye colour
gene for
nose shape
gene for
making insulin
The genes of a corresponding
pair are called alleles
Homologous chromosomes have the same
length and carry the same gene sequences
Alleles are alternative
forms of the same gene
Gene
Let’s take coat colour in mice as an
example
Mice can be:  Black  Brown
The allele for black fur is dominant to the
allele for brown fur
This combination of
alleles gives a
BLACK mouse
The dominant allele is expressed
The recessive allele is masked
Alleles are represented by letters
the alleles must have the same letter but
the dominant allele is always in capitals
Black mouse
(B – dominant allele)
Brown mouse
(b – recessive allele)
Possible combinations of alleles
A black mouse (BB) is crossed with a brown one (bb).
What will the offspring look like?
B
B
b
b
B
b
PURE-BREEDING organism – both alleles
are the same [BB and bb]
B
B
B
B
b
b
b
b
B
b
meiosis
meiosis
fertilisation
All offspring will
be black (Bb)
sperm mother cell
ovum mother cell
zygote
If two of the offspring (Bb)
thus produced are mated,
what type of offspring would
result?
Bb Bb
x
?
B
b
B
b
B
b
B
b
B
B
B
b
B
b
b
b
BB
Bb
Bb
bb
sperm mother cell
ovum mother cell
meiosis
Possible combinationsFertilisation
sperms
ova
zygotes
FIRST FILIAL GENERATION
(F1) the offspring produced
by a parental generation
xParents:
SECOND FILIAL
GENERATION (F2)
offspring of the F1
When two F1 offspring
mate, they produce the
F2
Homozygous & Heterozygous
HOMOZYGOUS – alleles on corresponding
positions of homologous chromosomes are
identical e.g. BB or bb
 HETEROZYGOUS – pairs of different alleles
are present on corresponding positions of
homologous chromosomes e.g. Bb
Genotype & Phenotype
genotype: describes the genetic make-up (all
of the genes) of an individual
homozygous dominant
heterozygous
homozygous recessive
phenotype: outward appearance of an
individual
27
 Genotype - gene combination for a
trait (e.g. RR, Rr, rr)
 Phenotype - the physical feature
resulting from a genotype (e.g. red,
white)
Which is the dominant allele?
Parents
(true breeding
parents)
F1 generation
F2 generation
Purple flowers White flowers

All plants have
purple flowers
Fertilisation
among F1 plants
(F1  F1)
3/4 of plants
have purple flowers
1/4 of plants
have white flowers
Alleleforpurplecolour[100% purpleinF1
generation]
Let us become familiar with terms learned
R represent round seed
r represent wrinkled seed
Round
What is the:
a) phenotype of a homozygous dominant plant?
b) genotype of a homozygous dominant plant?
c) genotype of a heterozygous plant?
RR
Rr
B represent yellow seed
b represent green seed
What is the:
a) dominant allele for seed colour?
b) genotype of a homozygous recessive plant?
B
bb
c) genotype of a true breeding plant that produces
green seeds?
bb
GENETIC CROSSES
32
Types of Genetic Crosses
 Monohybrid cross - cross involving a
single trait
e.g. flower color
 Dihybrid cross - cross involving two
traits
e.g. flower color & plant height
33
Monohybrid
Crosses
A - allele for purple flower colour
a - allele for white colour.
A pure breeding purple and a pure breeding white
flower are crossed.
What will the phenotype and genotype ratios be in the
F1 generation? purple - A – AA, Aa
white – a – aa
Parents: Purple x White
AA x aa
Gametes:
F1 generation: Aa Aa Aa Aa
A A ax a
F1 Phenotype: 100% purple
F1 Genotype: 100% heterozygous
The cross does NOT mean that FOUR offspring are
produced. It shows PROBABILITY.
Cross can be shown as:
Parents: Purple x White
AA x aa
Gametes:
F1 generation: Aa
A x a
F1 Phenotype: 100% purple
F1 Genotype: 100% heterozygous
IMPORTANT!!
Self-pollination occurs in one of the F1 plants.
What will the phenotype and genotype ratios
be in the F2 generation? purple – A – AA, Aa
white – a – aa
F1 generation: Purple x Purple
Aa x Aa
Gametes:
F2 generation:
xA a aA
AA Aa Aa aa
Phenotype- 3 purple : 1 white / 75% purple: 25% white( 3:1)
Genotype- 1 AA : 2 Aa : 1 aa (1:2:1)
Remember:
when both parents are heterozygous,
they produce offspring in 3:1 ratio
Pp Pp
x
Parents
Offspring
Gene diagram – Flower colour
Male female
RR rr
parent
gamete R R r r
Offspring
Rr RrRrRr
Genotype
Phenotype All red
Red – R
yellow – r
Gene diagram – Flower colour
Male female
Rr Rr
parent
gamete R r R r
Offspring
genotype RR RrRrrr
Phenotype Red yellow red red
3 red : 1 yellow
Gene diagram – Flower colour
Male female
Rr rr
parent
gamete R r r r
Offspring
genotype Rr Rrrrrr
Phenotype Red yellow yellow red
Red 50% yellow 50%
x
bb
50% black : 50% brown
x
100% black
bb
Bb
bbBb
Remember
THE PUNNETT SQUARE
METHOD
Reginald Punnett (1875-1967)
In 1902, created the Punnett Square - a
chart which helped to determine the
probable results of a genetic cross
T t
T TT Tt
t Tt tt
Male
gametes
Female
gametes
Tt
Tt
44
Dihybrid Crosses
Dihybrid Cross
Traits: Seed shape & Seed color
Alleles: R round r wrinkled
Y yellow y green
Pea plants seed A
Round
yellow
RRYY
Pea plant seed B
Wrinkled
green
rryy
Parental
Phenotype
RY ry
RrYy
All round and yellow seeds
Parental
genotype
gametes
F1 genotype
F1 phenotype
46
Dihybrid Cross
Traits: Seed shape & Seed color
Alleles: R round r wrinkled
Y yellow y green
RrYy x RrYy
RY Ry rY ry RY Ry rY ry
All possible gamete combinations
F1 x F1
gametes
49
Dihybrid Cross
RY Ry rY ry
RY
Ry
rY
ry
50
Dihybrid Cross
RRYY
RRYy
RrYY
RrYy
RRYy
RRyy
RrYy
Rryy
RrYY
RrYy
rrYY
rrYy
RrYy
Rryy
rrYy
rryy
Round/Yellow: 9
Round/green: 3
wrinkled/Yellow: 3
wrinkled/green: 1
9:3:3:1 phenotypic
ratio
RY Ry rY ry
RY
Ry
rY
ry
Alleles: R round
r wrinkled
Y yellow
y green
51
Dihybrid Cross
Round/Yellow: 9
Round/green: 3
wrinkled/Yellow: 3
wrinkled/green: 1
9:3:3:1
REMEMBER
52
MONOHYBRID CROSS eg (Rr x Rr)
Phenotype Ratio : 3:1
Genotype Ratio : 1:2:1
DIHYBRID CROSS eg (RrTt x RrTt)
Phenotype Ratio : 9:3:3:1
53
Question:
How many gametes will be produced
for the following allele arrangements?
Remember: 2n (n = # of heterozygotes)
1. RrYy
2. AaBbCCDd
3. MmNnOoPPQQRrssTtQq
54
Answer:
1. RrYy: 2n = 22 = 4 gametes
RY Ry rY ry
2. AaBbCCDd: 2n = 23 = 8 gametes
ABCD ABCd AbCD AbCd
aBCD aBCd abCD abCD
3. MmNnOoPPQQRrssTtQq: 2n = 26 = 64
gametes
55
Mendel’s Laws
1. Law of Dominance
2. Law of Segregation
3. Law of Independent assortment
56
Law of Dominance
In a cross of parents that are
pure for contrasting traits, only
one form of the trait will appear in
the next generation.
All the offspring will be
heterozygous and express only the
dominant trait.
RR x rr yields all Rr (round seeds)
57
Law of Dominance
MENDEL’S LAW
LAW OF SEGREGATION
Each individual characteristic
of a organism is determined
by a pair of allele.
The pairs of alleles
segregate during meiosis
Only one of each pair of
allele can be present in a
single gamete
58
61
Law of segregation
MENDEL’S LAW
LAW OF INDEPENDENT ASSORTMENT
Two or more pair of alleles
will segregate or assort
independently of one
another during gamete
formation
62
63
Instead of
1 trait at a
time, let’s
look at
how 2
traits can
be passed
together.
Connection: Mendel’s Laws and Meiosis
Different Patterns of Inheritance
As we now
know, many
traits do not
follow
Mendelian
Inheritance
patterns.
Co-dominance
When both
alleles are
expressed
equally in the
heterozygous
individual.
A and B blood type
alleles are co-
dominant.
Black and orange
color in cats are co-
dominant.
BLOOD GROUPS
In humans, there are four blood types: A, B, AB & O
BLOOD GROUPS
sometimes a characteristic is controlled by
more than two alleles
e.g. three alleles control human blood:
 A, B and O
a person has two out of three alleles
BLOOD GROUP
(phenotype)
GENOTYPE
A IA IA or IA IO
B IB IB or IB IO
AB IA IB
O Io Io
The alleles for groups A & B are CODOMINANT
O is recessive
70
Codominance Problem
Example: homozygous male Type B (IBIB)
 x
heterozygous female Type A (IAi)
1/2 = IAIB
1/2 = IBi
Parents: IBIB x IAIO
Gametes: IB
F1 generation:
IB IA IO
IBIOIAIB IBIO
IAIB
Phenotype AB B AB B
71
Another Codominance Problem
Example: male Type O (ii)
x
female type AB (IAIB)
1/2 = IAi
1/2 = IBi
Parents: IoIO x IAIB
Gametes: IO
F1 generation:
IO IA IB
IAIOIAIO IBIO
IBIO
Phenotype A A B B
2) Two parents, one with blood group A and the
other with blood group B, have a child whose
genotype is homozygous.
a) Complete the diagram below to show how
this can happen. (5)
IoIo
Io Io
IAIo
IBIo
IBIA
b) What is the chance of these parents
producing a homozygous child? (1)
Parents: IAIO x IBIO
Gametes: IA
F1 generation:
xIO IB IO
IAIOIAIB IOIO
IBIO
25%
c) What is the blood group phenotype of the
homozygous child? (1) Blood group O
74
• The differences in human blood
are due to the presence or
absence of certain protein
molecules called antigens and
antibodies.
• The antigens are on the surface of
the red blood cells
• the antibodies are in the blood
plasma.
• The blood group you belong to
depends on what you have inherited
from your parents.
Why the different blood
groups?
75
ABO BLOOD GROUP
Blood group A
 A antigens (on the surface of RBC)
 B antibodies (in blood plasma)
Blood group B
 B antigens (on the surface of RBC)
 A antibodies (in blood plasma)
76
Blood group AB
 A & B antigens (on the surface of RBC)
 No antibodies (in blood plasma)
Blood group O
 No antigens (on the surface of RBC)
 A & B antibodies (in blood plasma)
BLOOD GROUP ANTIGENS &
ANTIBODIES
BLOOD GROUP ANTIGEN
ON SURFACE
OF RBC
ANTIBODY
IN BLOOD
PLASMA
A A B
B B A
AB A and B None
O None A and B
79
Rhesus factor blood grouping system
 Rhesus = Rh Rh + ( dominant) Rh - (recessive)
 Rh + = has Rhesus antigen
(Cannot produce Rh antibody)
 Rh - = no Rhesus antigen
(Able to produce antibody if he or
she receives blood from a person
with Rh+ blood )
A person with Rh+ blood can receive blood from a
person with Rh- blood without any problems.
Rhesus Factor
 Rh - ( rh rh)
 Rh + (Rh Rh) or (Rh rh)
(Rh+ - dominant)
Rh inheritance
Mother Father
Rh – Rh +
( rh rh) X (Rh Rh)
Foetus : (Rh rh)
Rh+
Rh inheritance
Mother Father
Rh – Rh +
( rh rh) X (Rh rh)
Gamete rh Rh rh
Foetus : (Rh rh) (rhrh)
Phenotype Rh+ Rh-
Mother: Rh +ve, foetus : Rh –ve
No problem
Mother - antigen
in RBC unable to
diffuse through
placenta
Baby born alive
Rh +
Rh -
Rh -
Rh +
Mother: Rh – , Foetus: Rh +
Problem
 During delivery, baby’s blood in
placenta will mix with mother’s
blood
 1st baby will survive
 Rh antigen in RBC enter mother’s
blood system
 Mother’s lymphocytes stimulated
to produce Rh antibodies.
Rh -
Rh +
Mother: Rh – , Foetus: Rh +
Problem
 Rh Antibodies remain in mother’s
blood plasma
 Second pregnancy, if foetus also
Rh+
 Antibody from the mother’s blood
plasma diffuse into foetus blood
through placenta (leakage)
 Agglutination in foetus’ blood
Mom’s immune system recognizes that these cells are not like
hers, so the baby’s blood cells are attacked.
The same principle applies to rejected organ transplants and
blood transfusions.
Example of the immune system gone wrong…
90
Sex Chromosomes
The gender / sex of an individual is determined genetically by
the sex chromosomes.
XX = female, XY = male
All other chromosomes are called “autosomes”
Humans have 46 chromosomes
(44 autosomes+2 sex chromosomes)
91
Sex chromosomes
Every female cell has two
sex chromosomes which are
alike (XX)
Sex chromosome
XX
Human female: 44 + XX
92
Sex chromosomes
Every male cell has two
chromosomes which are
not alike (XY)
Human male: 44 + XY
93
Human male: 44 + XY
Human female: 44 + XX
94
cells in testis of male cell in ovary of female
44 +XY
44 +XX
there are two
types of sperm
22 + X
there is only one
type of ovum
22 + Y 22 + X 22 + X
44 +XY
44 +XY44 +XX44 +XX
Genotype: 44 +XX : 44 + XY
Female : Male
1 : 1
SEX DETERMINATION IN HUMANS
96
The type of sperm which fertilises
the ovum decides the sex of the
offspring
X sperm – baby girl Y sperm – baby boy
97
What is so different between the X and Y
chromosomes?
X- over 1000 genes identified
Y- 330 genes identified,
many are inactive
Y chromosome
SEX-LINKAGE
Sex-linked genes are carried on the
sex chromosomes (X chromosome)
autosomes Sex
chromosomes
X X
X Y
Female
carries two
alleles of a gene
Male
carries one
allele of a gene
Sex-Linkage
red-green colour
blindness haemophilia
“3” or “8”??
examples of sex linked traits:
Males are more likely to suffer from
sex-linked diseases
Normal
A
Females
carry two alleles of a
gene. If one allele is
defective, female is
still normal as effect
is masked by the
normal allele.
A
Normal: A
Sick: a
SickPhenotypically
normal / carrier
A
A
a
a
aa
Normal Sick
Female: 3 choices
Male : 2 choices
104
Colour blindness
105
Features of Colour blindness
Colour blindness – Inability to differentiate
between red and green
o hereditary disease
o It is common in male but rare in female.
o Caused by recessive allele located on X
chromosome
o Colour blindness follows criss- cross inheritance
as transmitted from father to grandson through
daughter.
o It is never transmitted from father to son
107
XCXC - Normal female
XCXc - Carrier female
XCY - Normal Male
XcY - Affected male
XcXc - Affected female
108
Red-green colour blindness
Parental
Phenotypes Carrier Female x Normal Male
Genotypes XBXb XBY
Gametes
Offspring 1
Genotypes
Phenotypes
Normal Female : Carrier Female : Normal Male : Colour blind Male
1 : 1 : 1 : 1
XB
XbXB Y
XB
XBXb Y
XB
XB Xb Y
109
GENETIC PEDIGREE FOR COLOUR BLINDNESS
110
111
This disease is
appeared as a mutant
in Queen Victoria and
from her it was
transmitted to her
descendants.
“Royal disease”
XH XH - Normal female
XH Xh - Carrier female
XH Y - Normal Male
Xh Y - Affected male
Xh Xh - Affected female
113
XhY
XH XH
Xh Y
XHXH
XH YXHXh
XHY XHXh
UNAFFECTED MOTHER FATHER - HAEMOPHILIA
Carrier Normal Carrier Normal
Female Male Female Male
115
XHY
XH Xh
XH Y
XHXh
Xh YXHXH
XHY XHXh
CARRIER MOTHER UNAFFECTED FATHER
Normal Normal Carrier Haemophilia
Female Male Female Male
117
XhY
XH Xh
Xh Y
XHXh
Xh YXHXh
XHY XhXh
CARRIER MOTHER FATHER - HAEMOPHILIA
Carrier Normal Haemophilia Haemophilia
Female Male Female Male
119
XHY
Xh Xh
XH Y
XhXh
Xh YXHXh
XhY XHXh
MOTHER - HEMOPHILIA Normal FATHER
Carrier Haemophilia Carrier Haemophilia
Female Male Female Male
121
XhY
Xh Xh
Xh Y
XhXh
Xh YXhXh
XhY XhXh
MOTHER - HAEMOPHILIA FATHER - HAEMOPHILIA
Haemophilia Haemophilia Haemophilia Haemophilia
Female Male Female Male
122
HEREDITARY DISEASE
Genetic diseases that offsprings inherit
from their parents
Eg. Haemophilia, red-green colour blindness,
Duchenne muscular dystrophy are caused by
recessive allele on the X chromosome.
Eg. Cystic fibrosis, albinism, sickle cell anemia,
thalassaemia are caused by defective genes
found on the autosomes.
Sickle-cell Anaemia
 Caused by defective
allele for synthesis
of haemoglobin
 Autosomal gene
located on
chromosome
number 11
 This is due to the clumping of the abnormal
haemoglobin molecules in the red blood cell
 When blood oxygen is low the red blood cell
has the shape of a sickle
Sickle-cell
Anaemia
Sickle Cell Disease
 They more likely to break, aggregate and
clog the blood capillaries
VIDEO
SICKLE CELL
DISEASE
http://www.yout
ube.com/watch?
v=R4-c3hUhhyc
Cystic fibrosis
 Caused by a lack of transport protein which
allows chloride ions to move across plasma
membranes
 Normally water will pass through the
plasma membranes after the chloride ions
passes
 Caused by cystic fibrosis gene
located on chromosome number 7
 Affected persons – frequent respiratory
infections
Thalassaemia
 Anaemia
 Red blood cells cannot carry enough oxygen.
Deficiency of iron.
 Caused by recessive gene
 Synthesis of abnormal haemoglobin in red blood
cells
 Passed down by parents who carry thalassaemia
genes in their cells
 Symptoms :
 Appear healthy at birth
 After two years – become pale, listless, fussy,
poor appetite
 Grow slowly
 Develop jaundice
 Treatment :
 Frequent blood transfusion
 Bone marrow transplant
VIDEO
http://www.youtube.com/watch?v=Ul7m_FNsd_c
The End
Biology Form 5 Chapter 5 : 5.1 Inheritance

Biology Form 5 Chapter 5 : 5.1 Inheritance

  • 1.
  • 2.
  • 3.
    is the studyof heredity is the process in which traits are passed from parents to offspring
  • 4.
    Characters or Traitsare resemblances or differences which can be: Seen e.g. eye colour flower colour Tested for e.g. blood groups colour blindness
  • 5.
    Gregor Mendel (1822-1884) Austrian monkwho formulated fundamental laws of heredity in early 1860s Experimented with peas Over seven years, he made crosses with 24,034 plants Called the “Father of Genetics“
  • 6.
    6 Mendel’s Experimental Methods Mendel hand-pollinated flowersusing a paintbrush He could snip (cut) the stamens to prevent self-pollination He traced traits through the several generations
  • 7.
  • 8.
    8 How Mendel Began? Mendel produced pure strainsby allowing the plants to self- pollinate for several generations
  • 9.
  • 10.
  • 11.
    11 Mendel stated that physicaltraits are inherited as “particles” Mendel did not know that the “particles” were actually Chromosomes & DNA Particulate Inheritance
  • 12.
    Let’s revise: Genes:  controlthe characteristics of living organisms  are carried on the chromosomes
  • 13.
    Chromosomes are inpairs, one from each parent
  • 14.
    Genes are inpairs Genes controlling the same characteristics occupy identical positions on homologous chromosomes The gene pairs control one characteristic gene for eye colour gene for nose shape gene for making insulin
  • 16.
    The genes ofa corresponding pair are called alleles Homologous chromosomes have the same length and carry the same gene sequences Alleles are alternative forms of the same gene Gene
  • 17.
    Let’s take coatcolour in mice as an example Mice can be:  Black  Brown
  • 18.
    The allele forblack fur is dominant to the allele for brown fur This combination of alleles gives a BLACK mouse The dominant allele is expressed The recessive allele is masked
  • 19.
    Alleles are representedby letters the alleles must have the same letter but the dominant allele is always in capitals Black mouse (B – dominant allele) Brown mouse (b – recessive allele)
  • 20.
    Possible combinations ofalleles A black mouse (BB) is crossed with a brown one (bb). What will the offspring look like? B B b b B b PURE-BREEDING organism – both alleles are the same [BB and bb]
  • 21.
    B B B B b b b b B b meiosis meiosis fertilisation All offspring will beblack (Bb) sperm mother cell ovum mother cell zygote
  • 22.
    If two ofthe offspring (Bb) thus produced are mated, what type of offspring would result? Bb Bb x ?
  • 23.
    B b B b B b B b B B B b B b b b BB Bb Bb bb sperm mother cell ovummother cell meiosis Possible combinationsFertilisation sperms ova zygotes
  • 24.
    FIRST FILIAL GENERATION (F1)the offspring produced by a parental generation xParents: SECOND FILIAL GENERATION (F2) offspring of the F1 When two F1 offspring mate, they produce the F2
  • 25.
    Homozygous & Heterozygous HOMOZYGOUS– alleles on corresponding positions of homologous chromosomes are identical e.g. BB or bb  HETEROZYGOUS – pairs of different alleles are present on corresponding positions of homologous chromosomes e.g. Bb
  • 26.
    Genotype & Phenotype genotype:describes the genetic make-up (all of the genes) of an individual homozygous dominant heterozygous homozygous recessive phenotype: outward appearance of an individual
  • 27.
    27  Genotype -gene combination for a trait (e.g. RR, Rr, rr)  Phenotype - the physical feature resulting from a genotype (e.g. red, white)
  • 28.
    Which is thedominant allele? Parents (true breeding parents) F1 generation F2 generation Purple flowers White flowers  All plants have purple flowers Fertilisation among F1 plants (F1  F1) 3/4 of plants have purple flowers 1/4 of plants have white flowers Alleleforpurplecolour[100% purpleinF1 generation]
  • 29.
    Let us becomefamiliar with terms learned R represent round seed r represent wrinkled seed Round What is the: a) phenotype of a homozygous dominant plant? b) genotype of a homozygous dominant plant? c) genotype of a heterozygous plant? RR Rr
  • 30.
    B represent yellowseed b represent green seed What is the: a) dominant allele for seed colour? b) genotype of a homozygous recessive plant? B bb c) genotype of a true breeding plant that produces green seeds? bb
  • 31.
  • 32.
    32 Types of GeneticCrosses  Monohybrid cross - cross involving a single trait e.g. flower color  Dihybrid cross - cross involving two traits e.g. flower color & plant height
  • 33.
  • 34.
    A - allelefor purple flower colour a - allele for white colour. A pure breeding purple and a pure breeding white flower are crossed. What will the phenotype and genotype ratios be in the F1 generation? purple - A – AA, Aa white – a – aa Parents: Purple x White AA x aa Gametes: F1 generation: Aa Aa Aa Aa A A ax a F1 Phenotype: 100% purple F1 Genotype: 100% heterozygous
  • 35.
    The cross doesNOT mean that FOUR offspring are produced. It shows PROBABILITY. Cross can be shown as: Parents: Purple x White AA x aa Gametes: F1 generation: Aa A x a F1 Phenotype: 100% purple F1 Genotype: 100% heterozygous IMPORTANT!!
  • 36.
    Self-pollination occurs inone of the F1 plants. What will the phenotype and genotype ratios be in the F2 generation? purple – A – AA, Aa white – a – aa F1 generation: Purple x Purple Aa x Aa Gametes: F2 generation: xA a aA AA Aa Aa aa Phenotype- 3 purple : 1 white / 75% purple: 25% white( 3:1) Genotype- 1 AA : 2 Aa : 1 aa (1:2:1)
  • 37.
    Remember: when both parentsare heterozygous, they produce offspring in 3:1 ratio Pp Pp x Parents Offspring
  • 38.
    Gene diagram –Flower colour Male female RR rr parent gamete R R r r Offspring Rr RrRrRr Genotype Phenotype All red Red – R yellow – r
  • 39.
    Gene diagram –Flower colour Male female Rr Rr parent gamete R r R r Offspring genotype RR RrRrrr Phenotype Red yellow red red 3 red : 1 yellow
  • 40.
    Gene diagram –Flower colour Male female Rr rr parent gamete R r r r Offspring genotype Rr Rrrrrr Phenotype Red yellow yellow red Red 50% yellow 50%
  • 41.
    x bb 50% black :50% brown x 100% black bb Bb bbBb Remember
  • 42.
  • 43.
    Reginald Punnett (1875-1967) In1902, created the Punnett Square - a chart which helped to determine the probable results of a genetic cross T t T TT Tt t Tt tt Male gametes Female gametes Tt Tt
  • 44.
  • 45.
    Dihybrid Cross Traits: Seedshape & Seed color Alleles: R round r wrinkled Y yellow y green Pea plants seed A Round yellow RRYY Pea plant seed B Wrinkled green rryy Parental Phenotype RY ry RrYy All round and yellow seeds Parental genotype gametes F1 genotype F1 phenotype
  • 46.
    46 Dihybrid Cross Traits: Seedshape & Seed color Alleles: R round r wrinkled Y yellow y green RrYy x RrYy RY Ry rY ry RY Ry rY ry All possible gamete combinations F1 x F1 gametes
  • 47.
    49 Dihybrid Cross RY RyrY ry RY Ry rY ry
  • 48.
    50 Dihybrid Cross RRYY RRYy RrYY RrYy RRYy RRyy RrYy Rryy RrYY RrYy rrYY rrYy RrYy Rryy rrYy rryy Round/Yellow: 9 Round/green:3 wrinkled/Yellow: 3 wrinkled/green: 1 9:3:3:1 phenotypic ratio RY Ry rY ry RY Ry rY ry Alleles: R round r wrinkled Y yellow y green
  • 49.
    51 Dihybrid Cross Round/Yellow: 9 Round/green:3 wrinkled/Yellow: 3 wrinkled/green: 1 9:3:3:1
  • 50.
    REMEMBER 52 MONOHYBRID CROSS eg(Rr x Rr) Phenotype Ratio : 3:1 Genotype Ratio : 1:2:1 DIHYBRID CROSS eg (RrTt x RrTt) Phenotype Ratio : 9:3:3:1
  • 51.
    53 Question: How many gameteswill be produced for the following allele arrangements? Remember: 2n (n = # of heterozygotes) 1. RrYy 2. AaBbCCDd 3. MmNnOoPPQQRrssTtQq
  • 52.
    54 Answer: 1. RrYy: 2n= 22 = 4 gametes RY Ry rY ry 2. AaBbCCDd: 2n = 23 = 8 gametes ABCD ABCd AbCD AbCd aBCD aBCd abCD abCD 3. MmNnOoPPQQRrssTtQq: 2n = 26 = 64 gametes
  • 53.
    55 Mendel’s Laws 1. Lawof Dominance 2. Law of Segregation 3. Law of Independent assortment
  • 54.
    56 Law of Dominance Ina cross of parents that are pure for contrasting traits, only one form of the trait will appear in the next generation. All the offspring will be heterozygous and express only the dominant trait. RR x rr yields all Rr (round seeds)
  • 55.
  • 56.
    MENDEL’S LAW LAW OFSEGREGATION Each individual characteristic of a organism is determined by a pair of allele. The pairs of alleles segregate during meiosis Only one of each pair of allele can be present in a single gamete 58
  • 57.
  • 58.
    MENDEL’S LAW LAW OFINDEPENDENT ASSORTMENT Two or more pair of alleles will segregate or assort independently of one another during gamete formation 62
  • 59.
    63 Instead of 1 traitat a time, let’s look at how 2 traits can be passed together. Connection: Mendel’s Laws and Meiosis
  • 61.
    Different Patterns ofInheritance As we now know, many traits do not follow Mendelian Inheritance patterns.
  • 62.
    Co-dominance When both alleles are expressed equallyin the heterozygous individual. A and B blood type alleles are co- dominant. Black and orange color in cats are co- dominant.
  • 63.
    BLOOD GROUPS In humans,there are four blood types: A, B, AB & O
  • 64.
    BLOOD GROUPS sometimes acharacteristic is controlled by more than two alleles e.g. three alleles control human blood:  A, B and O a person has two out of three alleles
  • 65.
    BLOOD GROUP (phenotype) GENOTYPE A IAIA or IA IO B IB IB or IB IO AB IA IB O Io Io The alleles for groups A & B are CODOMINANT O is recessive
  • 66.
    70 Codominance Problem Example: homozygousmale Type B (IBIB)  x heterozygous female Type A (IAi) 1/2 = IAIB 1/2 = IBi Parents: IBIB x IAIO Gametes: IB F1 generation: IB IA IO IBIOIAIB IBIO IAIB Phenotype AB B AB B
  • 67.
    71 Another Codominance Problem Example:male Type O (ii) x female type AB (IAIB) 1/2 = IAi 1/2 = IBi Parents: IoIO x IAIB Gametes: IO F1 generation: IO IA IB IAIOIAIO IBIO IBIO Phenotype A A B B
  • 68.
    2) Two parents,one with blood group A and the other with blood group B, have a child whose genotype is homozygous. a) Complete the diagram below to show how this can happen. (5) IoIo Io Io IAIo IBIo IBIA
  • 69.
    b) What isthe chance of these parents producing a homozygous child? (1) Parents: IAIO x IBIO Gametes: IA F1 generation: xIO IB IO IAIOIAIB IOIO IBIO 25% c) What is the blood group phenotype of the homozygous child? (1) Blood group O
  • 70.
    74 • The differencesin human blood are due to the presence or absence of certain protein molecules called antigens and antibodies. • The antigens are on the surface of the red blood cells • the antibodies are in the blood plasma. • The blood group you belong to depends on what you have inherited from your parents. Why the different blood groups?
  • 71.
    75 ABO BLOOD GROUP Bloodgroup A  A antigens (on the surface of RBC)  B antibodies (in blood plasma) Blood group B  B antigens (on the surface of RBC)  A antibodies (in blood plasma)
  • 72.
    76 Blood group AB A & B antigens (on the surface of RBC)  No antibodies (in blood plasma) Blood group O  No antigens (on the surface of RBC)  A & B antibodies (in blood plasma)
  • 73.
    BLOOD GROUP ANTIGENS& ANTIBODIES BLOOD GROUP ANTIGEN ON SURFACE OF RBC ANTIBODY IN BLOOD PLASMA A A B B B A AB A and B None O None A and B
  • 75.
    79 Rhesus factor bloodgrouping system  Rhesus = Rh Rh + ( dominant) Rh - (recessive)  Rh + = has Rhesus antigen (Cannot produce Rh antibody)  Rh - = no Rhesus antigen (Able to produce antibody if he or she receives blood from a person with Rh+ blood ) A person with Rh+ blood can receive blood from a person with Rh- blood without any problems.
  • 76.
    Rhesus Factor  Rh- ( rh rh)  Rh + (Rh Rh) or (Rh rh) (Rh+ - dominant)
  • 77.
    Rh inheritance Mother Father Rh– Rh + ( rh rh) X (Rh Rh) Foetus : (Rh rh) Rh+
  • 78.
    Rh inheritance Mother Father Rh– Rh + ( rh rh) X (Rh rh) Gamete rh Rh rh Foetus : (Rh rh) (rhrh) Phenotype Rh+ Rh-
  • 79.
    Mother: Rh +ve,foetus : Rh –ve No problem Mother - antigen in RBC unable to diffuse through placenta Baby born alive Rh + Rh -
  • 80.
    Rh - Rh + Mother:Rh – , Foetus: Rh + Problem  During delivery, baby’s blood in placenta will mix with mother’s blood  1st baby will survive  Rh antigen in RBC enter mother’s blood system  Mother’s lymphocytes stimulated to produce Rh antibodies.
  • 81.
    Rh - Rh + Mother:Rh – , Foetus: Rh + Problem  Rh Antibodies remain in mother’s blood plasma  Second pregnancy, if foetus also Rh+  Antibody from the mother’s blood plasma diffuse into foetus blood through placenta (leakage)  Agglutination in foetus’ blood
  • 82.
    Mom’s immune systemrecognizes that these cells are not like hers, so the baby’s blood cells are attacked. The same principle applies to rejected organ transplants and blood transfusions. Example of the immune system gone wrong…
  • 83.
    90 Sex Chromosomes The gender/ sex of an individual is determined genetically by the sex chromosomes. XX = female, XY = male All other chromosomes are called “autosomes” Humans have 46 chromosomes (44 autosomes+2 sex chromosomes)
  • 84.
    91 Sex chromosomes Every femalecell has two sex chromosomes which are alike (XX) Sex chromosome XX Human female: 44 + XX
  • 85.
    92 Sex chromosomes Every malecell has two chromosomes which are not alike (XY) Human male: 44 + XY
  • 86.
    93 Human male: 44+ XY Human female: 44 + XX
  • 87.
    94 cells in testisof male cell in ovary of female 44 +XY 44 +XX there are two types of sperm 22 + X there is only one type of ovum 22 + Y 22 + X 22 + X 44 +XY 44 +XY44 +XX44 +XX Genotype: 44 +XX : 44 + XY Female : Male 1 : 1 SEX DETERMINATION IN HUMANS
  • 88.
    96 The type ofsperm which fertilises the ovum decides the sex of the offspring X sperm – baby girl Y sperm – baby boy
  • 89.
    97 What is sodifferent between the X and Y chromosomes? X- over 1000 genes identified Y- 330 genes identified, many are inactive Y chromosome
  • 90.
  • 91.
    Sex-linked genes arecarried on the sex chromosomes (X chromosome) autosomes Sex chromosomes X X X Y Female carries two alleles of a gene Male carries one allele of a gene
  • 92.
    Sex-Linkage red-green colour blindness haemophilia “3”or “8”?? examples of sex linked traits:
  • 93.
    Males are morelikely to suffer from sex-linked diseases Normal A Females carry two alleles of a gene. If one allele is defective, female is still normal as effect is masked by the normal allele. A Normal: A Sick: a SickPhenotypically normal / carrier A A a a aa Normal Sick Female: 3 choices Male : 2 choices
  • 94.
  • 95.
    105 Features of Colourblindness Colour blindness – Inability to differentiate between red and green o hereditary disease o It is common in male but rare in female. o Caused by recessive allele located on X chromosome o Colour blindness follows criss- cross inheritance as transmitted from father to grandson through daughter. o It is never transmitted from father to son
  • 96.
    107 XCXC - Normalfemale XCXc - Carrier female XCY - Normal Male XcY - Affected male XcXc - Affected female
  • 97.
    108 Red-green colour blindness Parental PhenotypesCarrier Female x Normal Male Genotypes XBXb XBY Gametes Offspring 1 Genotypes Phenotypes Normal Female : Carrier Female : Normal Male : Colour blind Male 1 : 1 : 1 : 1 XB XbXB Y XB XBXb Y XB XB Xb Y
  • 98.
    109 GENETIC PEDIGREE FORCOLOUR BLINDNESS
  • 99.
  • 100.
    111 This disease is appearedas a mutant in Queen Victoria and from her it was transmitted to her descendants. “Royal disease” XH XH - Normal female XH Xh - Carrier female XH Y - Normal Male Xh Y - Affected male Xh Xh - Affected female
  • 101.
    113 XhY XH XH Xh Y XHXH XHYXHXh XHY XHXh UNAFFECTED MOTHER FATHER - HAEMOPHILIA Carrier Normal Carrier Normal Female Male Female Male
  • 102.
    115 XHY XH Xh XH Y XHXh XhYXHXH XHY XHXh CARRIER MOTHER UNAFFECTED FATHER Normal Normal Carrier Haemophilia Female Male Female Male
  • 103.
    117 XhY XH Xh Xh Y XHXh XhYXHXh XHY XhXh CARRIER MOTHER FATHER - HAEMOPHILIA Carrier Normal Haemophilia Haemophilia Female Male Female Male
  • 104.
    119 XHY Xh Xh XH Y XhXh XhYXHXh XhY XHXh MOTHER - HEMOPHILIA Normal FATHER Carrier Haemophilia Carrier Haemophilia Female Male Female Male
  • 105.
    121 XhY Xh Xh Xh Y XhXh XhYXhXh XhY XhXh MOTHER - HAEMOPHILIA FATHER - HAEMOPHILIA Haemophilia Haemophilia Haemophilia Haemophilia Female Male Female Male
  • 106.
    122 HEREDITARY DISEASE Genetic diseasesthat offsprings inherit from their parents Eg. Haemophilia, red-green colour blindness, Duchenne muscular dystrophy are caused by recessive allele on the X chromosome. Eg. Cystic fibrosis, albinism, sickle cell anemia, thalassaemia are caused by defective genes found on the autosomes.
  • 107.
    Sickle-cell Anaemia  Causedby defective allele for synthesis of haemoglobin  Autosomal gene located on chromosome number 11
  • 108.
     This isdue to the clumping of the abnormal haemoglobin molecules in the red blood cell  When blood oxygen is low the red blood cell has the shape of a sickle Sickle-cell Anaemia
  • 109.
  • 110.
     They morelikely to break, aggregate and clog the blood capillaries VIDEO SICKLE CELL DISEASE http://www.yout ube.com/watch? v=R4-c3hUhhyc
  • 111.
    Cystic fibrosis  Causedby a lack of transport protein which allows chloride ions to move across plasma membranes  Normally water will pass through the plasma membranes after the chloride ions passes
  • 112.
     Caused bycystic fibrosis gene located on chromosome number 7
  • 113.
     Affected persons– frequent respiratory infections
  • 114.
    Thalassaemia  Anaemia  Redblood cells cannot carry enough oxygen. Deficiency of iron.  Caused by recessive gene  Synthesis of abnormal haemoglobin in red blood cells  Passed down by parents who carry thalassaemia genes in their cells
  • 115.
     Symptoms : Appear healthy at birth  After two years – become pale, listless, fussy, poor appetite  Grow slowly  Develop jaundice  Treatment :  Frequent blood transfusion  Bone marrow transplant VIDEO http://www.youtube.com/watch?v=Ul7m_FNsd_c
  • 116.