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UNIT 4:
GENETICS AND
INHERITANCE
Campbell & Reece:
Chapters 14 and 15
1. WHAT IS GENETICS
• Genetics: The study of heredity.
• Heredity is the relations between
successive generations.
• Why do children look a little bit like their
parents but also different?
• What is responsible for these
similarities and differences?
2. MENDEL’S GENETICS
• Gregory Mendel is the father of
Genetics.
• Mendel discovered the basic principles
of heredity by breeding garden peas in
carefully planned experiments.
• Advantages of pea plants for genetic
study: Cross-pollination (fertilization
between different plants) can be achieved by
dusting one plant with pollen from another.
• Cross-pollination (fertilization between
different plants) can be achieved by dusting
one plant with pollen from another.
• He also used varieties that were true-breeding
(organisms with only one variety of a type e.g.
red flowers can only produce red flowers)
• In a typical experiment, Mendel mated two
contrasting, true-breeding varieties, a process
called 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, the F2
generation is produced
• 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.
• 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
• What Mendel called a “heritable factor” is
what we now call a gene
• He did 7 other crosses using different traits
and found the same phenomenon.
• Mendel noted that the gene for flower color for
example exists in two versions, one for purple
flowers and the other for white flowers
• These alternative versions of a gene are now
called alleles
• Each gene is found at a specific locus (position) on
a specific chromosome.
• The two alleles at a locus on a homologous
chromosome pair may be identical, as in the
true-breeding plants – they are then said to
be homozygous for that trait/gene.
• Alternatively, the two alleles at a locus may
differ – they are said to be heterozygous for
that gene/trait.
• If the two alleles at a locus differ, then one
(the dominant allele) determines the
organism’s appearance (we refer to it as its
phenotype), and the other (the recessive
allele) has no noticeable effect on
• Mendel then formulated the law of
segregation, states that the two alleles for a
heritable character separate (segregate)
during gamete formation and end up in
different gametes
• Thus, an egg or a sperm gets only one of the
two alleles that are present in the somatic
cells of an organism.
• An organism traits are indicated via its
genotype and phenotype.
 Genotype: The genetic composition of
the gene, indicated by letters e.g. GG,
Gg, gg. (A capital letter represents a
dominant allele, and a lowercase letter
represents a recessive allele)
 Phenotype: The external appearance of
the gene e.g. Brown hair, white hair.
3. GENETIC CROSSES
• HOW CAN WE NOW MORE OF LESS
DETERMINE WHAT WILL BE THE
OUTCOME IF 2 ORGANISMS HAVE A
BABY?
TWO TYPES OF
GENETIC CROSSES
• MONOHYBRID CROSSES: A cross
between 2 organisms where we only
look an one pair of contrasting traits.
• DIHYBRID CROSS: A cross between 2
organisms where we look at two pairs
of contrasting traits at the same time.
MONOHYBRID CROSS -EXAMPLE
• Determine the outcome/ F1 generation
of a cross between a homozygous tall
plant and a homozygous short plant.
Tall plants are dominant over short
plants.
STEPS TO SOLVE A CROSS PROBLEM
1. What trait are we looking at?
2. Choose a letter to represent the trait.
3. See if you can identify which trait is dominant –
allocate the capital letter to that trait.
4. Identify the recessive trait and allocate a lower case
letter to that trait.
5. Determine the genotypes of the parents. –
Homozygous dominant – Two capital letters e.g. GG
Homozygous recessive – Two lower case letter. E.g.
gg
Heterozygous – One capital letter and one lower
case letter e.g. Gg
1. Start with cross
SOLUTION
1. Trait – Size of plant.
2. Letter chosen to represent size of plant = T/t
3. Tall plants are dominant. (Given in problem) –
Given the – “T” (capital T)
4. Short plants are recessive – given the “t”
(lower case t)
5. One parent is homozygous tall – TT
other parent is homozygous short - tt
CROSS SHOWN AS A GENETIC DIAGRAM
Why?
Tall is dominant over short plants – Babies have both
alleles: tall and short
Cross shown as a punnet square
CROSS BETWEEN F1 GENERATION
INDIVIDUALS (INTERBREED F1 GENERATION)
MONOHYBRID CROSS –EXAMPLE 2
A heterozygous blue eyed rabbit is crossed
with a rabbit with pink eyes. What is the
possibility of the babies being born with
pink eyes?
SOLUTION
1. Trait: eye colour of rabbit.
2. Letter used: E/e
3. Dominant trait: Blue eyes (Why? The first rabbit is
heterozygous – both alleles – but blue is being
expressed in rabbit eyes.) = E
4. Recessive trait: pink eyes = e
5. Rabbit one – heterozygous: Ee
Rabbit two – homozygous: ee (why?)
The only way that a rabbit can have pink eyes
expressed externally is if both alleles code for pink
eyes.
EXAMPLE OF A DIHYBRID CROSS
Determine the F2 generation of a cross
between yellow round seeded peas and
wrinkled green seeded peas. Yellow and
round seeds are dominant.
• Using a dihybrid cross, Mendel developed
the law of independent assortment
• The law of independent assortment states
that each pair of alleles segregates
independently from another pair of alleles
during gamete formation.
• Strictly speaking, this law applies only to
genes on different, nonhomologous
chromosomes
• Genes located near each other on the
same chromosome tend to be inherited
together.
Dihybrid cross
• In humans there is a disease called Phenylketonuria
(PKU) which is caused by a recessive allele. People with
this allele have a defective enzyme and cannot break
down the amino acid phenylalanine. This disease can
result in mental retardation or death. Let “E” represent
the normal enzyme. Also in humans in a condition
called galactose intolerance or galactosemia, which is
also caused by a recessive allele. Let “G” represent the
normal allele for galactose digestion. In both diseases,
normal dominates over recessive.
• If two adults were heterozygous for both traits, what
are the chances of having a child that is completely
normal?
• Has just PKU?
• Has just galactosemia?
• Has both diseases?
EG Eg eG eg
EG EEGG EEGg EeGG EeGg
Eg EEGg EEgg EeGg Eegg
eG EeGG EeGg eeGG eeGg
eg EeGg Eegg eeGg eegg
P1 EeGg x EeGg
Meiosis
F1 EG Eg eG eg EG Eg eG eg
4. DEGREES OF DOMINANCE
•Complete dominance One allele
suppresses the expression of the other
allele.
• Incomplete dominance: phenotype of F1
hybrids is somewhere between the
phenotypes of the 2 parental varieties –
neither allele completely dominant
(White x Red = Pink)
• Codominance, 2 dominant alleles affect
the phenotype in separate,
distinguishable ways. (Red and white
flowers = White and red visible.)
5. MULTIPLE ALLELES
 Most genes exist in populations in more than two
allelic forms.
 For example, the four phenotypes of the ABO
blood group in humans are determined by three
alleles for the enzyme (I) that attaches A or B
carbohydrates to red blood cells: IA, IB, and i.
 The enzyme encoded by the IA allele adds the A
carbohydrate, whereas the enzyme encoded by
the IB allele adds the B carbohydrate; the enzyme
encoded by the i allele adds neither.
6. PLEIOTROPY
 Most genes have multiple phenotypic effects, a
property called pleiotropy
 For example, pleiotropic alleles are responsible
for the multiple symptoms of certain hereditary
diseases, such as cystic fibrosis and sickle-cell
disease
7. Polygenic Inheritance
 Polygenic inheritance is an additive effect of two
or more genes on a single phenotype
 Skin color in humans is an example of polygenic
inheritance.
8. DETERMINING THE SEX OF A BABY
 In humans and other mammals, there are
two varieties of sex chromosomes: a larger
X chromosome and a smaller Y
chromosome
 Only the ends of the Y chromosome have
regions that are homologous with the X
chromosome
 The SRY gene on the Y chromosome codes
for the development of testes.
X and Y CHROMOSOMES
 Females are XX, and males are XY
 Each ovum contains an X
chromosome, while a sperm may
contain either an X or a Y
chromosome.
DIAGRAM TO DETERMINE THE SEX OF
A BABY
9. Inheritance of Sex-Linked Genes
 The sex chromosomes have genes for many
characters unrelated to sex
 A gene located on either sex chromosome is
called a sex-linked gene
 In humans, sex-linked refers to a gene on the
larger X chromosome.
 For a recessive sex-linked trait to be expressed
 A female needs two copies of the allele
 A male needs only one copy of the allele.
 Sex-linked recessive disorders are much more
common in males than in females.
Some disorders caused by recessive alleles on
the X chromosome in humans:
• Color blindness
• Duchenne muscular dystrophy
• Hemophilia

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Unit 4 genetics and inheritance(2)

  • 1. UNIT 4: GENETICS AND INHERITANCE Campbell & Reece: Chapters 14 and 15
  • 2. 1. WHAT IS GENETICS • Genetics: The study of heredity. • Heredity is the relations between successive generations. • Why do children look a little bit like their parents but also different? • What is responsible for these similarities and differences?
  • 3. 2. MENDEL’S GENETICS • Gregory Mendel is the father of Genetics. • Mendel discovered the basic principles of heredity by breeding garden peas in carefully planned experiments. • Advantages of pea plants for genetic study: Cross-pollination (fertilization between different plants) can be achieved by dusting one plant with pollen from another.
  • 4. • Cross-pollination (fertilization between different plants) can be achieved by dusting one plant with pollen from another.
  • 5. • He also used varieties that were true-breeding (organisms with only one variety of a type e.g. red flowers can only produce red flowers) • In a typical experiment, Mendel mated two contrasting, true-breeding varieties, a process called 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, the F2 generation is produced
  • 6. • When Mendel crossed contrasting, true- breeding white and purple flowered pea plants, all of the F1 hybrids were purple
  • 7. • 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.
  • 8.
  • 9. • 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 • What Mendel called a “heritable factor” is what we now call a gene • He did 7 other crosses using different traits and found the same phenomenon.
  • 10.
  • 11. • Mendel noted that the gene for flower color for example exists in two versions, one for purple flowers and the other for white flowers • These alternative versions of a gene are now called alleles • Each gene is found at a specific locus (position) on a specific chromosome.
  • 12. • The two alleles at a locus on a homologous chromosome pair may be identical, as in the true-breeding plants – they are then said to be homozygous for that trait/gene. • Alternatively, the two alleles at a locus may differ – they are said to be heterozygous for that gene/trait. • If the two alleles at a locus differ, then one (the dominant allele) determines the organism’s appearance (we refer to it as its phenotype), and the other (the recessive allele) has no noticeable effect on
  • 13.
  • 14. • Mendel then formulated the law of segregation, states that the two alleles for a heritable character separate (segregate) during gamete formation and end up in different gametes • Thus, an egg or a sperm gets only one of the two alleles that are present in the somatic cells of an organism.
  • 15. • An organism traits are indicated via its genotype and phenotype.  Genotype: The genetic composition of the gene, indicated by letters e.g. GG, Gg, gg. (A capital letter represents a dominant allele, and a lowercase letter represents a recessive allele)  Phenotype: The external appearance of the gene e.g. Brown hair, white hair.
  • 16. 3. GENETIC CROSSES • HOW CAN WE NOW MORE OF LESS DETERMINE WHAT WILL BE THE OUTCOME IF 2 ORGANISMS HAVE A BABY?
  • 17. TWO TYPES OF GENETIC CROSSES • MONOHYBRID CROSSES: A cross between 2 organisms where we only look an one pair of contrasting traits. • DIHYBRID CROSS: A cross between 2 organisms where we look at two pairs of contrasting traits at the same time.
  • 18. MONOHYBRID CROSS -EXAMPLE • Determine the outcome/ F1 generation of a cross between a homozygous tall plant and a homozygous short plant. Tall plants are dominant over short plants.
  • 19. STEPS TO SOLVE A CROSS PROBLEM 1. What trait are we looking at? 2. Choose a letter to represent the trait. 3. See if you can identify which trait is dominant – allocate the capital letter to that trait. 4. Identify the recessive trait and allocate a lower case letter to that trait. 5. Determine the genotypes of the parents. – Homozygous dominant – Two capital letters e.g. GG Homozygous recessive – Two lower case letter. E.g. gg Heterozygous – One capital letter and one lower case letter e.g. Gg 1. Start with cross
  • 20. SOLUTION 1. Trait – Size of plant. 2. Letter chosen to represent size of plant = T/t 3. Tall plants are dominant. (Given in problem) – Given the – “T” (capital T) 4. Short plants are recessive – given the “t” (lower case t) 5. One parent is homozygous tall – TT other parent is homozygous short - tt
  • 21. CROSS SHOWN AS A GENETIC DIAGRAM Why? Tall is dominant over short plants – Babies have both alleles: tall and short
  • 22. Cross shown as a punnet square
  • 23. CROSS BETWEEN F1 GENERATION INDIVIDUALS (INTERBREED F1 GENERATION)
  • 24. MONOHYBRID CROSS –EXAMPLE 2 A heterozygous blue eyed rabbit is crossed with a rabbit with pink eyes. What is the possibility of the babies being born with pink eyes?
  • 25. SOLUTION 1. Trait: eye colour of rabbit. 2. Letter used: E/e 3. Dominant trait: Blue eyes (Why? The first rabbit is heterozygous – both alleles – but blue is being expressed in rabbit eyes.) = E 4. Recessive trait: pink eyes = e 5. Rabbit one – heterozygous: Ee Rabbit two – homozygous: ee (why?) The only way that a rabbit can have pink eyes expressed externally is if both alleles code for pink eyes.
  • 26.
  • 27. EXAMPLE OF A DIHYBRID CROSS Determine the F2 generation of a cross between yellow round seeded peas and wrinkled green seeded peas. Yellow and round seeds are dominant.
  • 28.
  • 29.
  • 30. • Using a dihybrid cross, Mendel developed the law of independent assortment • The law of independent assortment states that each pair of alleles segregates independently from another pair of alleles during gamete formation. • Strictly speaking, this law applies only to genes on different, nonhomologous chromosomes • Genes located near each other on the same chromosome tend to be inherited together.
  • 31. Dihybrid cross • In humans there is a disease called Phenylketonuria (PKU) which is caused by a recessive allele. People with this allele have a defective enzyme and cannot break down the amino acid phenylalanine. This disease can result in mental retardation or death. Let “E” represent the normal enzyme. Also in humans in a condition called galactose intolerance or galactosemia, which is also caused by a recessive allele. Let “G” represent the normal allele for galactose digestion. In both diseases, normal dominates over recessive. • If two adults were heterozygous for both traits, what are the chances of having a child that is completely normal? • Has just PKU? • Has just galactosemia? • Has both diseases?
  • 32. EG Eg eG eg EG EEGG EEGg EeGG EeGg Eg EEGg EEgg EeGg Eegg eG EeGG EeGg eeGG eeGg eg EeGg Eegg eeGg eegg P1 EeGg x EeGg Meiosis F1 EG Eg eG eg EG Eg eG eg
  • 33. 4. DEGREES OF DOMINANCE •Complete dominance One allele suppresses the expression of the other allele. • Incomplete dominance: phenotype of F1 hybrids is somewhere between the phenotypes of the 2 parental varieties – neither allele completely dominant (White x Red = Pink) • Codominance, 2 dominant alleles affect the phenotype in separate, distinguishable ways. (Red and white flowers = White and red visible.)
  • 34. 5. MULTIPLE ALLELES  Most genes exist in populations in more than two allelic forms.  For example, the four phenotypes of the ABO blood group in humans are determined by three alleles for the enzyme (I) that attaches A or B carbohydrates to red blood cells: IA, IB, and i.  The enzyme encoded by the IA allele adds the A carbohydrate, whereas the enzyme encoded by the IB allele adds the B carbohydrate; the enzyme encoded by the i allele adds neither.
  • 35.
  • 36. 6. PLEIOTROPY  Most genes have multiple phenotypic effects, a property called pleiotropy  For example, pleiotropic alleles are responsible for the multiple symptoms of certain hereditary diseases, such as cystic fibrosis and sickle-cell disease
  • 37. 7. Polygenic Inheritance  Polygenic inheritance is an additive effect of two or more genes on a single phenotype  Skin color in humans is an example of polygenic inheritance.
  • 38. 8. DETERMINING THE SEX OF A BABY  In humans and other mammals, there are two varieties of sex chromosomes: a larger X chromosome and a smaller Y chromosome  Only the ends of the Y chromosome have regions that are homologous with the X chromosome  The SRY gene on the Y chromosome codes for the development of testes.
  • 39. X and Y CHROMOSOMES
  • 40.  Females are XX, and males are XY  Each ovum contains an X chromosome, while a sperm may contain either an X or a Y chromosome.
  • 41. DIAGRAM TO DETERMINE THE SEX OF A BABY
  • 42. 9. Inheritance of Sex-Linked Genes  The sex chromosomes have genes for many characters unrelated to sex  A gene located on either sex chromosome is called a sex-linked gene  In humans, sex-linked refers to a gene on the larger X chromosome.  For a recessive sex-linked trait to be expressed  A female needs two copies of the allele  A male needs only one copy of the allele.  Sex-linked recessive disorders are much more common in males than in females.
  • 43.
  • 44. Some disorders caused by recessive alleles on the X chromosome in humans: • Color blindness • Duchenne muscular dystrophy • Hemophilia