IB Biology

2023
D3.2 Inheritance

1. What patterns of inheritance exist in

plants and animals?
2. What is the molecular basis of
inheritance patterns

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 D3.2 Inheritance Sub-Topics

Sub-Topic Clarification
D3.2.1—Production of haploid gametes in parents and their fusion to form a diploid zygote as the means Students should understand that this pattern of inheritance is common to all eukaryotes with a sexual life cycle. They should also understand that a diploid cell has two copies of each autosomal gene.
of inheritance

D3.2.2—Methods for conducting genetic crosses in flowering plants Use the terms “P generation”, “F1 generation”, “F2 generation” and “Punnett grid”. Students should understand that pollen contains male gametes and that female gametes are located in the ovary, so pollination is needed to carry out a cross. They should also understand that plants such as peas
produce both male and female gametes on the same plant, allowing self-pollination and therefore self-fertilization. Mention that genetic crosses are widely used to breed new varieties of crop or ornamental plants.

D3.2.3—Genotype as the combination of alleles inherited by an organism Students should use and understand the terms “homozygous” and “heterozygous”, and appreciate the distinction between genes and alleles.

D3.2.4—Phenotype as the observable traits of an organism resulting from genotype and environmental Students should be able to suggest examples of traits in humans due to genotype only and due to environment only, and also traits due to interaction between genotype and environment.
factors

D3.2.5—Effects of dominant and recessive alleles on phenotype Students should understand the reasons that both a homozygous-dominant genotype and a heterozygous genotype for a particular trait will produce the same phenotype.

D3.2.6—Phenotypic plasticity as the capacity to develop traits suited to the environment experienced by Phenotypic plasticity is not due to changes in genotype, and the changes in traits may be reversible during the lifetime of an individual.
an organism, by varying patterns of gene expression

D3.2.7—Phenylketonuria as an example of a human disease due to a recessive allele Phenylketonuria (PKU) is a recessive genetic condition caused by mutation in an autosomal gene that codes for the enzyme needed to convert phenylalanine to tyrosine.

D3.2.8—Single-nucleotide polymorphisms and multiple alleles in gene pools Students should understand that any number of alleles of a gene can exist in the gene pool but an individual only inherits two.

D3.2.9—ABO blood groups as an example of multiple alleles Use IA, IB and i to denote the alleles.

D3.2.10—Incomplete dominance and codominance Students should understand the differences between these patterns of inheritance at the phenotypic level. In codominance, heterozygotes have a dual phenotype. Include the AB blood type (IAIB) as an example. In incomplete dominance, heterozygotes have an intermediate phenotype. Include four
o'clock flower or marvel of Peru (Mirabilis jalapa) as an example. Note: When students are referring to organisms in an examination, either the common name or the scientific name is acceptable.

D3.2.11—Sex determination in humans and inheritance of genes on sex chromosomes Students should understand that the sex chromosome in sperm determines whether a zygote develops certain male-typical or female-typical physical characteristics and that far more genes are carried by the X chromosome than the Y chromosome.

D3.2.12—Haemophilia as an example of a sex-linked genetic disorder Show alleles carried on X chromosomes as superscript letters on an uppercase X.

D3.2.13—Pedigree charts to deduce patterns of inheritance of genetic disorders Students should understand the genetic basis for the prohibition of marriage between close relatives in many societies. NOS: Scientists draw general conclusions by inductive reasoning when they base a theory on observations of some but not all cases. A pattern of inheritance may be deduced from
parts of a pedigree chart and this theory may then allow genotypes of specific individuals in the pedigree to be deduced. Students should be able to distinguish between inductive and deductive reasoning.

D3.2.14—Continuous variation due to polygenic inheritance and/or environmental factors Use skin colour in humans as an example. Application of skills: Students should understand the distinction between continuous variables such as skin colour and discrete variables such as ABO blood group. They should also be able to apply measures of central tendency such as mean, median and
mode.

D3.2.15—Box-and-whisker plots to represent data for a continuous variable such as student height. Application of skills: Students should use a box-and-whisker plot to display six aspects of data: outliers, minimum, first quartile, median, third quartile and maximum. A data point is categorized as an outlier if it is more than 1.5 × IQR (interquartile range) above the third quartile or below the first
quartile.

D3.2.16—Segregation and independent assortment of unlinked genes in meiosis AHL Students should understand the link between the movements of chromosomes in meiosis and the outcome of dihybrid crosses involving pairs of unlinked genes.

D3.2.17—Punnett grids for predicting genotypic and phenotypic ratios in dihybrid crosses involving pairs Students should understand how the [Link] and [Link] ratios are derived. NOS: [Link] and [Link] ratios for dihybrid crosses are based on what has been called Mendel’s second law. This law only applies if genes are on different chromosomes or are far apart enough on one chromosome for
of unlinked autosomal genes AHL recombination rates to reach 50%. Students should recognize that there are exceptions to all biological “laws” under certain conditions.

D3.2.18—Loci of human genes and their polypeptide products AHL Application of skills: Students should explore genes and their polypeptide products in databases. They should find pairs of genes with loci on different chromosomes and also in close proximity on the same chromosome.

D3.2.19—Autosomal gene linkage AHL In crosses involving linkage, the symbols used to denote alleles should be shown alongside vertical lines representing homologous chromosomes. Students should understand the reason that alleles of linked genes can fail to assort independently.

D3.2.20—Recombinants in crosses involving two linked or unlinked genes AHL Students should understand how to determine the outcomes of crosses between an individual heterozygous for both genes and an individual homozygous recessive for both genes. Identify recombinants in gametes, in genotypes of offspring and in phenotypes of offspring.

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D3.2.21—Use of a chi-squared test on data from dihybrid crosses AHL Students should understand the concept of statistical significance, the p=0.05 level, null/alternative hypothesis and the idea of observed versus expected results. NOS: Students should recognize that statistical testing often involves using a sample to represent a population. In this case the sample is
the F2 generation. In many experiments the sample is the replicated or repeated measurements.
 D3.2.1—Production of haploid gametes in parents and their fusion to form a diploid zygote as the means of inheritance

In a diploid-dominant life cycle, the multicellular

diploid stage is the most obvious life stage, and the
only haploid cells are the gametes.
Sexual Life
• Humans and most animals have this type of life cycle.
Cycles In a haploid-dominant life cycle, the multicellular
(or sometimes unicellular) haploid stage is the most
obvious life stage and is often multicellular. In this
type of life cycle, the single-celled zygote is the
only diploid cell.
• Fungi and some algae have this type of life cycle.

In alternation of generations, both the haploid and

the diploid stages are multicellular, though they
may be dominant to different degrees in different
species.
• Plants and some algae have this type of life cycle.

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 D3.2.1—Production of haploid gametes in parents and their fusion to form a diploid zygote as the means of inheritance

Diploid-
Dominant
• The only haploid cells are the
gametes.
• Early in the development of an
animal embryo, special diploid
cells, called germ cells, are made
in the gonads (testes and ovaries).
• Germ cells can divide by mitosis
to make more germ cells, but
some of them undergo meiosis,
making haploid gametes (sperm
and egg cells).
• Fertilization involves the fusion of
two gametes, usually from
different individuals, restoring the
diploid state.

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 D3.2.1—Production of haploid gametes in parents and their fusion to form a diploid zygote as the means of inheritance

Passing Down Genes

• Sexual reproduction continually makes new, random combinations of gene variants.
• This makes it more likely that one or more members of a sexually reproducing population will happen to have a combination that
allows survival under the new conditions (e.g., one that provides resistance to the pathogen or allows escape from the predator).
• Over generations, beneficial gene variants can spread through the population, allowing it to survive as a group under the new
conditions.

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 D3.2.1—Production of haploid gametes in parents and their fusion to form a diploid zygote as the means of inheritance

Autosomes vs. Sex

Chromosomes

• Your body cells have 23 pairs of chromosomes.

• Homologous pairs of chromosomes have the
same structure.
• For each homologous pair, one chromosome
comes from each parent.
• Chromosome pairs 1-22 are autosomes.
• Sex chromosomes, X and Y, determine gender in
mammals.

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 D3.2.1—Production of haploid gametes in parents and their fusion to form a diploid zygote as the means of inheritance

• All autosomes form homologous

chromosome pairs.
• The pairing of genes between
the chromosomes is an
important part of inheritance
genetics because it helps
Inheritance determine the appearance of the
characteristic.
• In homologous chromosome
pairs, each chromosome carries
the same genes in the same
order and location.

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 D3.2.1—Production of haploid gametes in parents and their fusion to form a diploid zygote as the means of inheritance

Traits Are Inherited As

Discrete Units

• For each characteristic, an organism inherits 2 alleles, 1

from each parent
• Diploid organism
• Inherits 2 sets of chromosomes, 1 from each parent
• Homologous chromosomes
• Like having 2 editions of encyclopedia
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 D3.2.2—Methods for conducting genetic crosses in flowering plants

• Modern genetics began in the mid-

1800s in an abbey garden, where a
monk named Gregor Mendel
documented inheritance in peas
Gregor • Used experimental method

Mendel • Used quantitative analysis

• Collected data & counted them
• Excellent example of scientific
method

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 D3.2.2—Methods for conducting genetic crosses in flowering plants

Mendel’s Work anthers

removed

all purple flowers result

• Bred pea plants
• Cross-pollinate true breeding parents (P) F1
• P = parental
• Raised seed & then observed traits (F1)
• F = filial
self-pollinate
• Allowed offspring to self-pollinate & observed
next
generation (F2)
F2

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 D3.2.2—Methods for conducting genetic crosses in flowering plants

Dihybrid Cross
• The chromosomal basis of Mendel’s laws…to trace
the genetic events through meiosis, gamete
formation & fertilization to offspring
• Mendel’s experiments followed the inheritance of
two different characters
• seed color and seed shape
• dihybrid crosses

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 D3.2.2—Methods for conducting genetic crosses in flowering plants

Mendel
Collected
Data For 7
Pea Traits

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 D3.2.2—Methods for conducting genetic crosses in flowering plants

true-breeding true-breeding
Looking Closer purple-flower peas
X
white-flower peas
P
at Mendel’s
Work
100%
• Traits come in F1 purple-flower peas
alternative versions: generation
(hybrids) 100%
purple vs. white flower
color
• Alleles: different
self-pollinate
alleles vary in the
75% 25%
sequence of purple-flower peas white-flower peas
nucleotides at the F2
specific locus of a generation 3:1
gene
• Some difference in
sequence of A, T, C, G

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 D3.2.2—Methods for conducting genetic crosses in flowering plants

wild type
allele producing
mutant
allele producing
functional protein malfunctioning
What Did Mendel’s
protein
Findings Mean?
homologous • Purple and white flower colors are separate traits
chromosomes
that do not blend
• Purple x white ≠ light purple
• Purple masked white

X • Dominant allele
P
• Functional protein
purple white • Masks other alleles
• Recessive allele
F1 • Allele makes a malfunctioning protein

all purple
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 D3.2.3—Genotype as the combination of alleles inherited by an organism D3.2.4—Phenotype as the observable traits of an organism resulting
from genotype and environmental factors

Genotype vs.
Phenotype
• Difference between how an organism “looks” & its
genetics
• Phenotype
• Description of an organism’s trait
• The “physical”
• Genotype
• Description of an organism’s genetic
makeup

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 D3.2.2—Methods for conducting genetic crosses in flowering plants

X
P

purple white

F1 Making Crosses
all purple

Can represent alleles as letters:

1. flower color alleles  P or p
PP x pp 2. true-breeding purple-flower peas  PP
3. true-breeding white-flower peas  pp

Pp
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 D3.2.5—Effects of dominant and recessive alleles on phenotype

Genotypes homozygous
dominant

Homozygous = same alleles = PP, pp

Heterozygous = different alleles = Pp heterozygous

Two organisms can have the same

phenotype but have different genotypes:
homozygous
purple PP homozygous dominant recessive

purple Pp heterozygous

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 Genotype
The combination of alleles Homozygous dominant
of a gene carried by an organism Having two copies of the same dominant
allele

Phenotype
The expression of alleles Homozygous recessive
of a gene carried by an organism Having two copies of the same recessive
allele. Recessive alleles are only expressed
when homozygous.

Centromere
Joins chromatids in cell division

Codominant
Alleles Pairs of alleles which are both expressed when
present.
Different versions of a gene
Dominant alleles = capital letter
Recessive alleles = lower-case letter
Heterozygous
Having two different alleles.
The dominant allele is expressed.

Carrier
Heterozygous carrier of a Gene loci
recessive disease-causing allele Specific positions of genes on a chromosome

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 D3.2.2—Methods for conducting genetic crosses in flowering plants

Punnett Square

• A useful tool to do genetic crosses

• For a monohybrid cross, you need a
square divided by four
• Looks like a window pane
• We use the Punnett square to
predict the genotypes and
phenotypes of the offspring.

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 D3.2.2—Methods for conducting genetic crosses in flowering plants

Punnett
Squares

1. State the key by using the capital

letter of the dominant trait to
represent the dominant gene and
the small letter of the dominant
trait to represent the recessive
gene.
2. Write the cross and show the
gametes.
3. Draw the Punnett square and
place the letters for the egg alleles
on one side of the square and the
letters for the sperm alleles on the
other side of the square.
4. Write the results next to the
square.

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 D3.2.2—Methods for conducting genetic crosses in flowering plants

Using a Punnett Square

1. Determine the genotypes of the parent

organisms
2. Write down your "cross" (mating)
3. Draw a p-square

Parent genotypes:
TT and t t

Cross
TT  tt

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 D3.2.2—Methods for conducting genetic crosses in flowering plants

Using a Punnett Square

4. Split the letters of the genotype for each parent & put them outside the p-
square
5. Determine the possible genotypes of the offspring by filling in the p-square
6. Summarize results (genotypes & phenotypes of offspring)
T T
Genotypes:
TT  tt t Tt Tt 100% T t
Phenotypes:
100% Tall plants
t Tt Tt
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 D3.2.2—Methods for conducting genetic crosses in flowering plants

Monohybrid Cross: F2 Generation

If you let the F1 generation self-fertilize, the next

monohybrid cross would be:
Tt  Tt
T t (tall) (tall) Genotypes:
1 TT= Tall
2 Tt = Tall
1 tt = dwarf
T TT Tt Genotypic ratio= [Link]
Phenotype:
3 Tall
t Tt tt 1 dwarf
Phenotypic ratio= 3:1

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 D3.2.2—Methods for conducting genetic crosses in flowering plants

Secret of the
Punnett Square
T T  t t
• Key to the Punnett
Square
• Determine the
gametes of each
parent
• How? By “splitting” the
T T t t
genotypes of each
parent

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 D3.2.6—Phenotypic plasticity as the capacity to develop traits suited to the environment experienced by an organism, by varying patterns of gene expression

Environmental Effects on
Phenotype
• Phenotype is controlled by both
environment & genes.
• Examples:
• Human skin color is influenced by both
genetics & environmental conditions
• Color of Hydrangea flowers is
influenced by soil pH
• Coat color in arctic fox influenced by
heat sensitive alleles

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 D3.2.6—Phenotypic plasticity as the capacity to develop traits suited to the environment experienced by an organism, by varying patterns of
gene expression

Genotype vs.
Environment
• Your GENOTYPE determines how tall you MIGHT be
able to grow to… BUT environmental factors
determine how tall you become.
• Environmental factors such as: eating habit,
health, exercise, etc., will determine the height
you will be in life.

The world’s tallest man, Sultan Kosen (8 feet 1 inch)

towers over the world’s smallest, He Ping (2 feet 5
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inches).
 D3.2.6—Phenotypic plasticity as the capacity to develop traits suited to the environment experienced by an organism, by varying patterns of gene expression

Example: Hair
and Skin Color
• Expression of many phenotypes can be
affected by the environment.
• For example, our hair and skin color are
influenced by the amount of sun exposure:
• Hair tends to lighten with a lot of sunlight
• Skin tends to darken with a lot of sunlight

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 Relationship Between Genotype and
Phenotype

We need to understand the relationship between genes

and the environment

As the environment changes, the genotype that is best

able to adapt will survive

We cannot judge which is more valuable:

• the genotype or the phenotype

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 D3.2.6—Phenotypic plasticity as the capacity to develop traits suited to the environment experienced by an organism, by varying patterns of
gene expression

Example:
Hydrangeas
• Hydrangea blooms vary in color from red to blue, depending on the soil pH.
• The availability of aluminum ions in the leaves is dependent upon soil pH.
• When there is an acidic soil pH, aluminum ions are easily absorbed
into the plant.
• These aluminum atoms cause a chemical reaction within the pigment
molecule that causes each pigment molecule to reflect blue light.
• If the exact same plant is transferred to a more basic soil, then aluminum
binds to hydroxide ions in the soil and cannot be transported into the plant
at all.
• Thus, the pigment molecule is never modified and remains a red color.
• At a neutral soil pH, there is a small amount of aluminum in the plant and
some of the pigment gets modified, leading to the purple coloration.

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 D3.2.6—Phenotypic plasticity as the capacity to develop traits suited to the environment experienced by an organism, by varying patterns of gene expression

Ability of an organism to
express different phenotypes
depending on the biotic or
abiotic environment
Phenotypic
Plasticity
Involves regulatory genes that
switch on structural genes
given the appropriate stimulus

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 D3.2.8—Single-nucleotide polymorphisms and multiple alleles in gene pools

Extending Mendelian
Genetics
• Mendel worked with a simple system
• peas are genetically simple
• most traits are controlled by a single
gene
• each gene has only 2 alleles, 1 of which
is completely dominant to the other
• The relationship between
genotype & phenotype
is rarely that simple

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 D3.2.8—Single-nucleotide polymorphisms and multiple alleles in gene pools

Genes follow Mendel’s law of inheritance,

but differences in gene action can generate
more complex inheritance patterns for
phenotypes
Single genes - dominance, codominance,
incomplete dominance, overdominance,
allelic series, pleiotropy, lethals
Beyond
Mendel
Multiple genes - epistasis, polygenic traits

Genes & the environment - sex-

influenced traits, environment-dependent
gene expression, incomplete penetrance

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 D3.2.10—Incomplete dominance and codominance

RR RW WW

• Heterozygote shows an intermediate, blended phenotype

• example:
Incomplete • RR = red flowers RR
WW
Dominance • rr = white flowers
• Rr = pink flowersRW
• make 50% less color

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 D3.2.10—Incomplete dominance and codominance

Incomplete true-breeding X true-breeding

P red flowers white flowers
Dominance
100% pink
flowers
F1
• Mirabilis jalapa (4 generatio 100
O'clock plant) shows n %
incomplete dominance (hybrids)
because the genes for self-pollinate
red and white color mix
in F1 to form pink 25 50% 25%
hybrids.
% pin whit [Link]
red k e 1
• Both the pure characters F2
reappear generatio
n
in F2 generation.

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 D3.2.10—Incomplete dominance and codominance

Incomplete
Inheritance
Problem

What is the
probability of white
flowers if pink
flowers are bred with
pink flowers?

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 D3.2.10—Incomplete dominance and codominance

Incomplete
Inheritance
Problem
R R
What is the 50%
probability of white
flowers if pink
R RR RR chance
of Pink
flowers are bred with
pink flowers? W RW RW Flowers

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 D3.2.10—Incomplete dominance and codominance

Two alleles affect the phenotype

equally & separately
• not blended phenotype
• human ABO blood groups
• 3 alleles
Co- • IA, IB, i
Dominance • IA & IB alleles are co-dominant
• glycoprotein antigens on
RBC
• IAIB = both antigens are
produced
• i allele recessive to both

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 D3.2.10—Incomplete dominance and codominance

Blood Type Displays Both Co-

Dominance and Complete
Dominance
Red Blood cells can either have a
carbohydrate on their surface or not.
The presence of a carbohydrate (I) is
dominant to the absence of a carb (i).
Additionally, there are two types of carbs
that may exist on the surface of RBCs called
A (IA) and B (IB).
Cell surface carbs A and B are
codominant, which means they could also
show up at the same time on an RBC.

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 D3.2.8—Single-nucleotide polymorphisms and multiple alleles in gene pools

ANTIGEN ANTIBODIES DONATION

PHENOTYPE GENOTYPE ON RBC IN BLOOD STATUS

type A
antigens anti-B
A IA IA or IA i __
on surface antibodies
of RBC

Genetics type B
antigens anti-A

of Blood
B IB IB or IB i __
on surface antibodies
of RBC

Type AB IA IB
both type
A&
type B no
universa
l
antigens antibodies recipien
on surface t
of RBC
no
anti-A &
antigens universa
O ii anti-B
on surface l donor
antibodies
of RBC

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 D3.2.8—Single-nucleotide polymorphisms and multiple alleles in gene pools

Genetics
of Blood
Type

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 D3.2.14—Continuous variation due to polygenic inheritance and/or environmental factors

Polygenic Inheritance

• Some phenotypes determined by additive effects of 2 or

more genes on a single character
• Phenotypes on a continuum
• Human traits
• Skin color
• Height
• Weight
• Intelligence
• Behaviors
• However albinism can be inherited as a single gene trait
• aa = albino

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 D3.2.11—Sex determination in humans and inheritance of genes on sex chromosomes

Sex Linked Traits

• Genes are on sex chromosomes

• as opposed to autosomal
chromosomes
• first discovered by T.H. Morgan at
Columbia U.
• Drosophila flies breeding
• good genetic subject
• prolific
• 2 week generations
• 4 pairs of chromosomes
• XX=female, XY=male

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 D3.2.11—Sex determination in humans and inheritance of genes on sex chromosomes

Genetics of Sex
X Y
• In humans & other mammals, there are 2 sex
chromosomes: X & Y
• 2 X chromosomes X XX XY
• develop as a female: XX
• gene redundancy,
like autosomal chromosomes X XX XY
• an X & Y chromosome
• develop as a male: XY 50% female : 50%
• no redundancy male

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 D3.2.11—Sex determination in humans and inheritance of genes on sex chromosomes

Genes on Sex
Chromosomes
• Y chromosome
• few genes other than SRY
• sex-determining region
• master regulator for maleness
• turns on genes for production of male
hormones
• many effects = pleiotropy!
• X chromosome
• other genes/traits beyond sex determination
• mutations:
• hemophilia
• Duchenne muscular dystrophy
• color-blindness

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 D3.2.11—Sex determination in humans and inheritance of genes on sex chromosomes
Ichthyosis, X-linked
Placental steroid sulfatase deficiency
Kallmann syndrome
Chondrodysplasia punctata,
X-linked recessive
Hypophosphatemia
Aicardi syndrome

Human X
Duchenne muscular dystrophy Hypomagnesemia, X-linked
Becker muscular dystrophy Ocular albinism
Retinoschisis
Chronic granulomatous disease
Retinitis pigmentosa-3 Adrenal hypoplasia
Glycerol kinase deficiency

Chromosome
Norrie disease
Retinitis pigmentosa-2 Ornithine transcarbamylase
deficiency
Incontinentia pigmenti
Wiskott-Aldrich syndrome
Menkes syndrome

Androgen insensitivity
Sideroblastic anemia
Aarskog-Scott syndrome Charcot-Marie-Tooth neuropathy
Choroideremia
PGK deficiency hemolytic anemia Cleft palate, X-linked
Spastic paraplegia, X-linked,
• Sex-linked Anhidrotic ectodermal dysplasia uncomplicated
Deafness with stapes fixation
Agammaglobulinemia
PRPS-related gout
• Usually means “x- Kennedy disease
Pelizaeus-Merzbacher disease Lowe syndrome
Alport syndrome
linked” Fabry disease Lesch-Nyhan syndrome
HPRT-related gout
Immunodeficiency, X-linked, Hunter syndrome
Hemophilia B
• More than 60 diseases
with hyper IgM
Lymphoproliferative syndrome Hemophilia A
G6PD deficiency: favism
Drug-sensitive anemia
traced to genes on X Albinism-deafness syndrome Chronic hemolytic anemia
Manic-depressive illness, X-linked
Colorblindness, (several forms)
Fragile-X syndrome
chromosome Dyskeratosis congenita
TKCR syndrome
Adrenoleukodystrophy
Adrenomyeloneuropathy
Emery-Dreifuss muscular dystrophy
Diabetes insipidus, renal
Myotubular myopathy, X-linked

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 D3.2.12—Haemophilia as an example of a sex-linked genetic disorder

Sex-Linked
Disorders
• Sex-linked traits are those which are
carried on the X-chromosome in the non-
homologous region.
• Alleles in this regions are expressed
whether they are dominant or recessive, as
there is no alternate allele carried on the Y
chromosome.
• Therefore, sex-linked genetic disorders are
more common in males.
• Examples:
• Hemophilia
• Color Blindness
• Baldness

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 D3.2.12—Haemophilia as an example of a sex-linked genetic disorder

Hemophilia

• Blood clotting is an example of a metabolic

pathway – a series of enzyme-controlled
biochemical reactions.
• It requires globular proteins called clotting
factors.
• A recessive X-linked mutation in
hemophiliacs results in one of these factors
not being produced. Therefore, the clotting
response to injury does not work and the
patient can bleed to death.

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 D3.2.12—Haemophilia as an example of a sex-linked genetic disorder

sex-linked
recessive
XHh
H h x HH
X XHY
XH
male / sperm XHXh
XH Y Xh
female / eggs

X H XHXH XHY
XH
XHY
Xh XHXh XhY
Y
carrie diseas
r e
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 Genetic Diseases

Many genetic diseases 3,358 genes with a phenotype-causing mutation (OMIM,

March 19, 2015)
have been identified by Estimated total of 20,000-25,000 genes that are
expressed as proteins (International Human Genome
humans. Sequencing Consortium, 2004).

The number of genes present in the human genome

Most genetic diseases are along with the fact that most conditions are autosomal
recessive: it is unlikely that one parent will have a
mutation on a disease related gene, but the probability
very rare. that both parents have a mutation on the same gene is
very small.

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 Risk
Calculation

© Created by Alyssa 2023

 D3.2.7—Phenylketonuria as an example of a human disease due to a recessive allele

Recessive Diseases

The diseases are recessive because the male / sperm

allele codes for either a malfunctioning A a
protein or no protein at all
AA
AA Aa
Aa

female / eggs
• Heterozygotes (Aa)
A carrier
• Carriers

• Have a normal phenotype

a Aa
Aa aa
because one “normal” allele
carrier disease
produces enough of the required
protein
© Created by Alyssa 2023
 D3.2.7—Phenylketonuria as an example of a human disease due to a recessive allele

Dominant Recessive
• Acondroplasia Albinism
 Melanin pathway mutated
• Dwarfism
 photosensitivity
• Lethal in homozygous

Autosomal cond.

• Acromegaly
Phenylketoneuria
 Cannot break down

Disorders
phenylalanine
• Gigantism
 Lead to mental
• Overactive pituitary retardation

• Huntington’s Cystic fibrosis

• Degeneration of  Cl- channel problem
nervous system  Mucus buildup
• Manifests around 40  Death around 40
years of age

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 D3.2.7—Phenylketonuria as an example of a human disease due to a recessive allele

Phenylketoneuria (PKU)

PAH Gene Normal PAH gene function-

• Location: chromosome • Responsible for the first step
12q22-24 in processing the amino acid
• Length: 79,278 bp’s (13 phenylalanine.
exons) • Also, necessary for the
• Over 450 mutations in the conversion of phenylalanine
gene have been identified to tyrosine.
in patients with PKU.

© Created by Alyssa 2023

 D3.2.7—Phenylketonuria as an example of a human disease due to a recessive allele

PKU

• Phenylketonuria, also called PKU, is an

inherited condition where the body cannot
break down certain foods
• With PKU, the enzyme that breaks down
phenylalanine may be present only in small
amounts or none at all.
• Phenylalanine may build up in the body and
cause brain damage. This may lead to serious
growth and learning problems, such as mental
retardation.
• For a child to inherit PKU, both parents must
have the defective gene. If the child gets only
one defective gene, he may only be a PKU
carrier.
• A carrier is usually not affected in any way.

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 D3.2.13—Pedigree charts to deduce patterns of inheritance of genetic disorders

Pedigrees

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 D3.2.13—Pedigree charts to deduce patterns of inheritance of genetic disorders

A pedigree is a chart of the

genetic history of family over
several generations.
What is a
Pedigree? Scientists or a genetic
counselor would find out
about your family history and
make this chart to analyze.

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 D3.2.13—Pedigree charts to deduce patterns of inheritance of genetic disorders

Determine if the pedigree chart

shows an autosomal or X-linked
disease.
• If most of the males in the pedigree are
affected the disorder is X-linked
Interpretin • If it is a 50/50 ratio between men and
women the disorder is autosomal.
ga
Pedigree Determine whether the disorder is
dominant or recessive.
Chart • If the disorder is dominant, one of the
parents must have the disorder.
• If the disorder is recessive, neither parent
has to have the disorder because they can
be heterozygous.

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 D3.2.13—Pedigree charts to deduce patterns of inheritance of genetic disorders

Pedigree Pedigree analysis reveals Mendelian patterns in

human inheritance
Analysis • data mapped on a family tree

= male = female = male w/ trait = female w/ trait

© Created by Alyssa 2023
 D3.2.13—Pedigree charts to deduce patterns of inheritance of genetic disorders

In humans, pedigree analysis

is an important tool for
studying inherited diseases
Today... Pedigree analysis uses family
Pedigree trees and information about
Analysis affected individuals to:
• figure out the genetic basis of a
disease or trait from its inheritance
pattern
• predict the risk of disease in future
offspring in a family (genetic
counseling)
© Created by Alyssa 2023
 D3.2.13—Pedigree charts to deduce patterns of inheritance of genetic disorders

Pedigree
Chart -
Cystic
Fibrosis

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 D3.2.13—Pedigree charts to deduce patterns of inheritance of genetic disorders

Trait is common in the pedigree

Autosomal Dominant Trait is found in every generation

Pedigrees
Affected individuals transmit the
trait to ~1/2 of their children
(regardless of sex

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 D3.2.13—Pedigree charts to deduce patterns of inheritance of genetic disorders

Recessive
and
Dominant
Inheritance

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 D3.2.13—Pedigree charts to deduce patterns of inheritance of genetic disorders

If The
Phenotype Is
More Common
In Males
(Square), The
Gene Is Likely
Sex/X-Linked

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 D3.2.13—Pedigree charts to deduce patterns of inheritance of genetic disorders

X-Linked Recessive
Pedigrees

 Trait is rare in pedigree

 Trait skips generations
 Affected fathers DO NOT
pass to their sons,
 Males are more often
affected than females

© Created by Alyssa 2023

 D3.2.13—Pedigree charts to deduce patterns of inheritance of genetic disorders

X-Linked
Recessive Traits

• Hemophilia in European
royalty

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 D3.2.13—Pedigree charts to deduce patterns of inheritance of genetic disorders

© Created by Alyssa 2023

 D3.2.13—Pedigree charts to deduce patterns of inheritance of genetic disorders

X-Linked
Dominant
Pedigrees

Trait is common in
pedigree
Affected fathers pass
to ALL of their
daughters
Males and females
are equally likely to
be affected

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 D3.2.13—Pedigree charts to deduce patterns of inheritance of genetic disorders

• X-linked dominant diseases are extremely

X-Linked unusual
• Often, they are lethal (before birth) in
Dominant males and only seen in females
Pedigrees • ex. incontinentia pigmenti (skin lesions)
• ex. X-linked rickets (bone lesions)

© Created by Alyssa 2023

 D3.2.13—Pedigree charts to deduce patterns of inheritance of genetic disorders

Dominant traits and

codominant may be rare in
population

Recessive traits may be

common in population

Remember Alleles may come into the

pedigree from 2 sources

Mutation happens

Often traits are more complex

• affected by environment & other genes

© Created by Alyssa 2023

 D3.2.15—Box-and-whisker plots to represent data for a continuous variable such as student height.

Box and
Whisker Plots
• A box-and-whisker plot shows the distribution of
data. The middle half of the data is represented by
a “box” with a vertical line at the median.
• The box extends to the upper and lower quartiles.
• The upper quartile is the median of the upper half
of the data. The lower quartile is the median of
the lower half of the data.

© Created by Alyssa 2023

 D3.2.15—Box-and-whisker plots to represent data for a continuous variable such as student height.

Box and Whisker Plots

Data set: 85,92,78,88,90,88,89

78 85 88 88 89 90 92

Lower quartile Median Upper quartile

© Created by Alyssa 2023

 D3.2.15—Box-and-whisker plots to represent data for a continuous variable such as student height.

The lower fourth and upper fourth quarters are represented by “whiskers”
that extend to the minimum (least) and maximum (greatest) values.

Data set: 85,92,78,88,90,88,89

78 85 88 88 89 90 92

Lower quartile Median Upper quartile

What are minimum and maximum values?

© Created by Alyssa 2023
 D3.2.15—Box-and-whisker plots to represent data for a continuous variable such as student height.

Box and
Whisker Plots
• Step 1. Order the data from least to
greatest. Then find the minimum, lower
quartile, median, upper quartile, and
maximum.
• Step 2. Draw a number line and plot a
point above each value.
• Step 3. Draw the box and whiskers.

© Created by Alyssa 2023

 D3.2.15—Box-and-whisker plots to represent data for a continuous variable such as student height.

Checking for
Outliers

• An outlier is data point that is

extremely far away from the
rest of the data and may effect
some of the measurements we
take from that data.
• An outlier is any point that is
farther than 1.5 x the IQR from
the first or third quartile.
• Now, check the previous data
for outliners.

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 D3.2.15—Box-and-whisker plots to represent data for a continuous variable such as student height.

Importance
• Why do we need to know how to display and
analyze data in box-and-whisker plots ?
• It helps you to interpret and represent data.
• It gives a visual representation of data.
• Tell your partner which reason is most
important to you. You can use one of mine or
one of your own.

© Created by Alyssa 2023

 D3.2.18—Loci of human genes and their polypeptide products AHL

Genes

• DNA is the genetic blueprint which

codes for, and determines, the
characteristics of an organism.
• DNA is packaged and
organized into discrete
structures called chromosomes
• A gene is a sequence of DNA that
encodes for a specific trait (traits
may also be influenced by multiple
genes)
• The position of a gene on a
particular chromosome is called the
locus (plural = loci)

© Created by Alyssa 2023

 D3.2.18—Loci of human genes and their polypeptide products AHL

Genes
And
Gene
Loci

© Created by Alyssa 2023

 D3.2.18—Loci of human genes and their polypeptide products AHL

Alleles

• Alleles of a gene are found at the

same locus but have a different DNA
base sequence.
• Alleles are alternative forms of a
gene that code for the different
variations of a specific trait
• For example, the gene for eye
color has alleles that encode
different shades / pigments
• The sequence tends to be very
similar, differing only by a few
bases.

© Created by Alyssa 2023

 D3.2.18—Loci of human genes and their polypeptide products AHL

For each chosen species retrieve the base sequence:

Using A • Go to GenBank website

[Link]
Database - • Select ‘Gene’ from the search bar

Analyze The • Enter the name of a gene (e.g. AMY1A for salivary
amylase 1A or COX1 for cytochrome oxidase 1)

Differences AND the organism (use the binomial) and press

‘Search’

Between n.b. if you are comparing species the gene chosen

needs to be the same for each species

Three Or • Select the ‘Name/Gene ID’ to get a detailed view

• Scroll down to the ‘Genomic regions, transcripts,
More and products’ section and click on ‘FASTA’

Species • Copy the entire sequence from ‘>’ onwards

• Save the sequence – you will need to align with
the other species next

© Created by Alyssa 2023

 D3.2.18—Loci of human genes and their polypeptide products AHL

Using A To align the sequences:

Database - • Go to the Clustal Omega website
Analyze The [Link]

Differences • In STEP 1 Select ‘DNA’ under ‘a set of’

Between • Paste the chosen sequences into the box

(each sequence must start on a new line)
Three Or • Press ‘Submit’ (and wait – depending on
More the size of the sequences you may have to
wait for a couple of minutes)
Species

© Created by Alyssa 2023

 D3.2.18—Loci of human genes and their polypeptide products AHL

Using A Analysis:
• ‘Alignments’ allows you to visually check
Database - the results – this is easier if the chosen
Analyze The gene has a short base sequence

Differences • Under ‘Results Summary’ use the ‘Percent

Identity Matrix’ to quantify the overall
Between similarity (0 = no similarity, 100 =
identical)
Three Or • Under ‘Phylogenic Tree’ chose the ‘Real’
More option for the Phylogram to get a visual

Species representation of how similar the species

are (based on the chosen gene).

© Created by Alyssa 2023

 D3.2.18—Loci of human genes and their polypeptide products AHL

Use the online database (

[Link] to search for
the genes and the loci responsible for
synthesizing the following polypeptides:
Using a • Rhodopsin

Database • 3 different types of Collagen

• Insulin
• One other protein of your choice

© Created by Alyssa 2023

 D3.2.16—Segregation and independent assortment of unlinked genes in meiosis AHL

Pp pp PP
Allele Segregation
and Assortment p P p p P P

1. Law of segregation: during meiosis, alleles segregate

• Homologous chromosomes separate

2.
• Each allele for a trait is packaged into a separate gamete

Law of independent assortment: different loci (genes)

YyRr
separate into gametes independently
• Non-homologous chromosomes align independently
• Classes of gametes produced in equal amounts
• YR = Yr = yR = yr
• Only true for genes on separate chromosomes or
on same chromosome but so far apart that crossing over happens
frequently YR Yr yR yr

© Created by Alyssa 2023

 D3.2.16—Segregation and independent assortment of unlinked genes in meiosis AHL

Random Orientation vs. Independent

Assortment

Random Orientation refers to the behavior of homologous

pairs of chromosomes (metaphase I) or pairs of sister
chromatids (metaphase II) in meiosis.

Independent assortment refers to the behavior of alleles

of unlinked genes as a result of gamete production
(meiosis).

Due to random orientation of the chromosomes in

metaphase I, the alleles of these unlinked genes have
become independently assorted into the gametes.

© Created by Alyssa 2023

 D3.2.16—Segregation and independent assortment of unlinked genes in meiosis AHL

Law of segregation
• Monohybrid cross
• Single trait
• Each allele segregates into separate
Review: gametes
Mendel’s • Established by metaphase 1

Laws of Law of independent assortment

Heredity • Dihybrid (or more) cross
• 2 or more traits
• Genes on separate chromosomes
assort into gametes independently
• Established by metaphase 1

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 D3.2.17—Punnett grids for predicting genotypic and phenotypic ratios in dihybrid crosses involving pairs of unlinked autosomal genes AHL

Mendelian •Phenotypic ratio: 1 : 1 : 1 : 1

Testcross No •Frequency: 25% : 25%: 25% :
Linkage 25%

© Created by Alyssa 2023

 D3.2.19—Autosomal gene linkage AHL

Law of Independent
Assortment
• EXCEPTION if genes are on
same chromosome & close
together
• will usually be inherited
together
• rarely crossover separately
• “linked”

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 D3.2.19—Autosomal gene linkage AHL

Crossing Over

Frequency of crossing-over between linked genes is

proportional to the distance between them.

Possible if two genes are close that crossing-over will

not be detected.

Crossing-over has been used to construct

chromosome maps.

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 D3.2.19—Autosomal gene linkage AHL

On separate chromosomes
so segregate
independently.

Three
Both genes on same pair of
Possibilitie chromosomes, no
s For Two crossing-over so always
stay together.
Genes
Both genes on same pair,
crossing over, produces
recombinant gametes.

© Created by Alyssa 2023

 D3.2.19—Autosomal gene linkage AHL

Linkage

• Each chromosome behaves

genetically as if it consisted of
genes arranged in a linear order
• Linkage is the tendency for a group
of genes, on the same
chromosome, to be inherited
together via crossing over
• However, for linkage to occur, the
genes, located on the same
chromosome, must be close
enough to each other.

© Created by Alyssa 2023

 D3.2.19—Autosomal gene linkage AHL

Gene Linkage

• Genes found on same chromosome

are considered LINKED!
• How close or far away are they?
• Fewer gamete possibilities the closer
they are!
• Why? Less possibility for crossing
over to occur.
• Independent assortment does not
apply
• No linkage if genes are on separate
chromosomes (# of recombinants
increases)

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 D3.2.19—Autosomal gene linkage AHL

Gene Linkage

• This shows linked

genes with no
crossing over and
crossing over.
• How can we test to
see if genes are
linked?

© Created by Alyssa 2023

 D3.2.19—Autosomal gene linkage AHL

Morgan’s
Testcross
Showing
Linkage

© Created by Alyssa 2023

 D3.2.20—Recombinants in crosses involving two linked or unlinked genes AHL

Genetic
Recombination b vg
b+ vg+
F1 dihybrid female
and homozygous
recessive male b vg b vg
• Morgan found that body color and wing size
are usually inherited together in specific
in testcross
combinations (parental phenotypes)
• He noted that these genes do not assort
independently, and reasoned that they were
on the same chromosome b+ vg+ b vg
• However, nonparental phenotypes were also Most offspring or
produced
b vg b vg
• Understanding this result involves exploring
genetic recombination, the production of
offspring with combinations of traits
differing from either parent

© Created by Alyssa 2023

 D3.2.20—Recombinants in crosses involving two linked or unlinked genes AHL

Mendel observed that combinations of

traits in some offspring differ from either
parent
Recombinatio
n of Unlinked Offspring with a phenotype matching one
Genes: of the parental phenotypes are called
Independent parental types
Assortment
Offspring with nonparental phenotypes
of (new combinations of traits) are called
Chromosome recombinant types, or recombinants
s
A 50% frequency of recombination is
observed for any two genes on different
chromosomes

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 D3.2.20—Recombinants in crosses involving two linked or unlinked genes AHL

Mapping the Distance Between Genes Using

Recombination Data: Scientific Inquiry

• Alfred Sturtevant, one of

RESULTS Morgan’s students,
constructed a genetic map,
Recombination
an ordered list of the genetic
frequencies loci along a particular
9% 9.5% chromosome
Chromosome • Sturtevant predicted that the
17%
farther apart two genes are,
the higher the probability
that a crossover will occur
b cn vg between them and therefore
the higher the recombination
frequency

© Created by Alyssa 2023

 D3.2.20—Recombinants in crosses involving two linked or unlinked genes AHL

Calculate the frequency of

recombinant offspring.

Recombination Ex: 13% recombinant

frequency = # map frequency = 13 map
units
Chromosom units

e Mapping
Greater % = greater distance

Lower % = closer distance

© Created by Alyssa 2023

 D3.2.20—Recombinants in crosses involving two linked or unlinked genes AHL

© Created by Alyssa 2023

 D3.2.20—Recombinants in crosses involving two linked or unlinked genes AHL

© Created by Alyssa 2023

 D3.2.21—Use of a chi-squared test on data from dihybrid crosses AHL

Chi-Square Analysis
In Genetics
© Created by Alyssa 2023
 D3.2.21—Use of a chi-squared test on data from dihybrid crosses AHL

In genetics, you can predict

genotypes based on probability
(expected results)

What is Chi-squared is a form of

statistical analysis used to
Chi- compare the actual results
(observed) with the expected
Squared? results

NOTE: 2 is the name of the

whole variable – you will never
take the square root of it or
solve for 

© Created by Alyssa 2023

 D3.2.21—Use of a chi-squared test on data from dihybrid crosses AHL

If the expected and observed

(actual) values are the same
then the 2 = 0

If the 2 value is 0 or is small

Chi- then the data fits your
hypothesis (the expected
Squared values) well.

By calculating the 2 value you

determine if there is a
statistically significant difference
between the expected and
actual values.

© Created by Alyssa 2023

 D3.2.21—Use of a chi-squared test on data from dihybrid crosses AHL

First, determine what your expected

and observed values are.

Observed (Actual) values: That should

be something you get from data–
Step 1: usually no calculations 

Calculatin
g 2 Expected values: based on probability

Suggestion: make a table with the

expected and actual values

© Created by Alyssa 2023

 D3.2.21—Use of a chi-squared test on data from dihybrid crosses AHL

Observed (actual) values: Suppose you

have 90 tongue rollers and 10
nonrollers

Expected: Suppose the parent

Step 1: genotypes were both Rr  using a
punnett square, you would expect 75%
Example tongue rollers, 25% nonrollers

This translates to 75 tongue rollers, 25

nonrollers (since the population you are
dealing with is 100 individuals)

© Created by Alyssa 2023

 D3.2.21—Use of a chi-squared test on data from dihybrid crosses AHL

Step 1: Table should look like this:

Example

Expecte Observe
d d
(Actual)

Tongue 75 90
rollers

Non-rollers 25 10
© Created by Alyssa 2023
 D3.2.21—Use of a chi-squared test on data from dihybrid crosses AHL

Use the formula to calculated

2
For each different category
(genotype or phenotype
Step 2: calculate
Calculatin
g 2 (observed – expected)2 /
expected

Add up all of these values to

determine 2

© Created by Alyssa 2023

 D3.2.21—Use of a chi-squared test on data from dihybrid crosses AHL

Step 2:
Calculatin
g 2

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 D3.2.21—Use of a chi-squared test on data from dihybrid crosses AHL

Using the data from before:

Tongue rollers (90 – 75)2 / 75

= 3
Step 2:
Example Non-rollers (10 – 25)2 / 25 = 9

2 = 3 + 9 = 12

© Created by Alyssa 2023

 D3.2.21—Use of a chi-squared test on data from dihybrid crosses AHL

Degrees of freedom = # of categories

–1
Step 3:
Determini Ex. For the example problem, there
were two categories (tongue rollers and
ng nonrollers)  degrees of freedom = 2 –
Degrees of 1

Freedom
Degrees of freedom = 1

© Created by Alyssa 2023

 D3.2.21—Use of a chi-squared test on data from dihybrid crosses AHL

• Using the degrees of freedom, determine the

Step 4: critical value using the provided table
Critical Value • Df = 1  Critical value = 3.84

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 D3.2.21—Use of a chi-squared test on data from dihybrid crosses AHL

If 2 > critical value…

• there is a statistically
significant difference
Step 5: between the actual and
expected values.
Conclusion If 2 < critical value…
• there is NOT a statistically
significant difference
between the actual and
expected values.
© Created by Alyssa 2023
 D3.2.21—Use of a chi-squared test on data from dihybrid crosses AHL

2 = 12 > 3.84

Step 5:
Example
There is a statistically
significant difference
between the observed
and expected population

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