D3.
2 Inheritance
D3.2.1 Production of haploid gametes in parents
In sexual reproduction, parents
contribute half of their genetic
material to offspring through
gametes.
This ensures that the resulting zygote
has the correct chromosome number:
Gametes are Haploid: Each
gamete contains one chromosome
of each type (n), whether it comes
Parents halve the chromosome number of their body cells
from the male (sperm) or female
(diploid) to form haploid gametes through meiosis.
(egg). This process ensures the accurate distribution of genetic material
Zygotes are Diploid: When male to offspring.
and female gametes fuse during Diploid Cells Begin with Two Copies of Each Chromosome:
For example, a diploid human cell has 46 chromosomes (23 pairs).
fertilization, their chromosome
Haploid Cells Have One Copy of Each Chromosome:
number doubles, forming a zygote Through meiosis, gametes are formed, each with 23
with two sets of chromosomes (2n). chromosomes in humans.
Fertilization Restores the Why Haploidy and Diploidy are Important
Diploid Chromosome
Haploidy Prevents Doubling of
Number
Chromosome Numbers: Meiosis
When a sperm cell and an egg ensures that gametes contribute only
cell fuse: one set of chromosomes, avoiding
Their haploid nuclei excessive chromosome numbers in
combine, forming a diploid offspring.
zygote. Diploidy Provides Genetic
The zygote now contains
Redundancy: Each gene has two copies,
two copies of each
one from each parent, allowing for
chromosome (one from
greater genetic diversity and backup for
each parent).
harmful mutations.
D3.2.2 - Genetic crosses in flowering plants
Mendel's experiments with pea plants
1. Mendel used purebred garden pea
plants (Pisum sativum) with clearly
distinct traits (e.g. tall vs. short, round vs.
wrinkled seeds) as a controlled starting
point.
2. He crossed two different varieties to
observe traits in the first generation (F1),
then crossed F1 plants with each other to
produce a second generation (F2).
3. F2 offspring consistently showed a 3:1
ratio of dominant to recessive traits,
suggesting one trait could mask another.
4. This led to the concepts of dominant and
recessive alleles, illustrated using
Punnett grids — where a dominant allele
(T) masks the recessive allele (t) in
heterozygotes (Tt).
Note:
D3.2.3- Combinations of alleles Locus is the specific
location or position of a
gene on a chromosome
Alleles & Genotype
— like an address. Every
An allele is a specific version of a gene, differing from individual has the same
other alleles by one or a few bases — e.g. a single base locus for the same gene.
difference in the transducin gene determines colour vs. Allele is the specific
version of the gene
grey-scale vision.
found at that locus —
The genotype is the symbolic representation of the
like what lives at that
two alleles an organism possesses (e.g. Bb, GG, tt), one address. Different
inherited from each parent. individuals may have
Homozygous — both alleles are identical: homozygous different alleles at the
same locus.
dominant (AA) or homozygous recessive (aa).
Heterozygous — two different alleles (e.g. Aa),
inherited from different parents.
A carrier is an individual with one recessive allele that
does not affect their phenotype (e.g. Aa carries the
albinism allele but shows normal pigmentation) — yet
can pass the recessive allele to offspring; if both
parents are carriers, some offspring may express the
recessive trait (aa).
D3.2.4 - Phenotype
The phenotype is the observable characteristics of an organism (e.g. blood type, colour blindness) — it is
not always solely determined by genes.
Phenotypes produced exclusively by genetics: ABO blood type, Huntington's disease, cystic fibrosis,
colour blindness.
Phenotypes produced exclusively by the environment: learned behaviours (e.g. learning mathematics),
acquired physical traits (e.g. scars, muscles from weightlifting).
Phenotypes produced by interaction of both: height (genetics sets the maximum, but nutrition
influences whether it is reached) and cancer (genetic predisposition triggered by environmental
factors).
D3.2.5- Dominant and recessive alleles
A dominant allele is always expressed in the phenotype regardless of whether it is paired with the
same or a different allele (e.g. Aa → dominant A trait is expressed; AA → same outcome).
A recessive allele is only expressed in the phenotype when no dominant allele is present to
mask it — i.e. only in the homozygous recessive condition (aa).
In a heterozygote (Aa), the recessive allele is present in the genotype but not transcribed or
translated — it is effectively silenced by the dominant allele.
D3.2.6 - Phenotypic plasticity D3.2.7 - Recessive genetic conditions
Phenotypic plasticity is an organism's ability to Two healthy parents can have an affected child if both are
express its phenotype differently in response to carriers — possessing one dominant and one recessive
environmental conditions — without any change to allele (Ff) without expressing the disease.
the genotype. PKU (phenylketonuria) is caused by mutations in the PAH
Changes can occur in physiology (e.g. birds producing gene, resulting in low levels of the enzyme phenylalanine
hydroxylase, which normally converts phenylalanine into
more maltase enzyme when diet shifts to grains),
the non-toxic tyrosine.
morphology(e.g. plants growing thicker leaves in
Without this enzyme, phenylalanine accumulates to toxic
higher light), behaviour (e.g. foraging patterns), or
levels, impairing brain development — particularly with a
phenology (e.g. adapting to seasonal changes).
high-protein diet.
Some changes are permanent (e.g. how an organism
When both parents are carriers (Ff × Ff), a Punnett grid
grows), while others are reversible within a lifetime
shows a 25% chance of an affected child (ff), 50% carrier
(e.g. physiological and behavioural changes). (Ff), and 25% unaffected (FF).
Example: the freshwater snail Physa virgata grows a Children with PKU are recommended a diet low in
rounder, shorter shell when it detects predator cues phenylalanine (avoiding eggs, chicken, nuts) and may
from the bluegill fish — achieved by expressing and require dietary supplements to support healthy growth.
silencing different allele combinations, not by
mutation.
D3.2.8- Single-nucleotidepolymorphisms and multiple alleles
Multiple Alleles & SNPs
A gene is not limited to just two alleles — some genes have multiple alleles (e.g. ABO blood
type has three alleles; some HLA immune genes have thousands).
SNPs (Single-Nucleotide Polymorphisms) occur when a single nucleotide is substituted at a
specific position in the genome — if in a coding region, this can alter the amino acid coded
for, modifying the resulting protein and representing a different allele.
Example: the gene TAS2R38 determines the ability to taste the bitter molecule PTC
(phenylthiocarbamide); different SNPs on this gene produce alleles that either allow or
prevent the taste receptor protein from functioning correctly.
This illustrates how multiple alleles of a single gene can produce a range of phenotypic
variation within a population.
D3.2.9- ABO blood groups
1. The ABO blood group
system is an example of a
gene with multiple alleles
(more than two alleles for a
single gene).
2. Unlike simple traits with
only two alleles (e.g.,
dominant and recessive),
Multiple Alleles Allow for Greater Genetic Diversity
the ABO system has three
Unlike simple traits with only two alleles (e.g., dominant and
alleles: AA, BB, and ii. recessive), some genes have multiple alleles.
3. This system produces four In the ABO system:
possible blood types (A, B, IAI^AIA: Produces an antigen with acetylgalactosamine on red
blood cells.
AB, O) from the
IBI^BIB: Produces an antigen with galactose on red blood
combination of three cells.
alleles. iii: Produces no antigen, making this allele recessive.
D3.2.10 - Intermediate and dual phenotypes
Incomplete Dominance — Four O'Clock Flower
Incomplete dominance occurs when neither allele is dominant over the other, producing a
blended intermediate phenotype rather than one of the two parental phenotypes.
Pink is not present in either parent — it arises
because both alleles are expressed equally, neither
masking the other, producing a blend.
This distinguishes incomplete dominance from
codominance (where both phenotypes are fully
expressed, as in ABO blood type) and from simple
dominance (where one allele fully masks the other).
Distinguish co-dominance and incomplete dominance
D3.2.11- Sex determination
Humans have 23 pairs of chromosomes, with the 23rd pair determining sex:
Females: Have two X chromosomes (XX), which carry about 900 genes essential for
survival and development.
Males: Have one X and one Y chromosome (XY).
The Y chromosome is much smaller, carrying only 55 genes, most of which are specific
to male development.
The Sperm Determines Whether the Offspring Is Male or Female
The sex of a zygote is determined during fertilization:
Sperm carrying an X chromosome → Offspring develops as XX (female).
Sperm carrying a Y chromosome → Offspring develops as XY (male).
The Role of the SRY Gene
The SRY gene on the Y chromosome acts as a switch for male development by triggering
the formation of testes.
In the absence of the SRY gene, the default pathway leads to female development.
Errors in Meiosis Can Cause Sex Chromosome Abnormalities
Mistakes during the formation of gametes can lead to unusual
combinations of sex chromosomes, such as:
Klinefelter’s Syndrome (XXY): Individuals develop as males but may
have reduced fertility and some female characteristics.
Turner’s Syndrome (XO): Individuals develop as females but may
have underdeveloped reproductive systems and shorter stature.
The X Chromosome Carries Many Essential Genes, Making Males More Vulnerable to X-
Linked Disorders
The X chromosome carries genes unrelated to sex determination, which are critical for
both males and females.
However, males are more vulnerable to X-linked disorders because they have only oneX
chromosome and lack a backup.
Example: Color Blindness, Hemophilia, and Duchenne Muscular Dystrophy are all
examples of X-Linked disorders.
X-Linked Traits Follow Distinct Inheritance Patterns
1.X-linked traits behave differently in males and females due to the structure
of sex chromosomes.
The Fruit Fly (Drosophila) Helped Uncover X-
Linked Inheritance Patterns
Geneticist Thomas Morgan used fruit flies to study
sex-linked inheritance.He discovered that:
Males inherit their X chromosome from their
mother, determining traits like eye color.
Reciprocal crosses revealed that eye color was
an X-linked trait.
D3.2.13- Pedigree charts
How to read pedigree chart ?
There Are Two Main Types of Variation D3.2.14 - Continuous variation
[Link] is one of the defining features of life.
[Link] two individuals are exactly alike, even within the same species.
[Link] differences are shaped by genetics, environment, or the interaction of
both, and can be separated into two types:
[Link] variation and discrete variation.
[Link] type of variation is often represented as a bell-
shaped curve, with most individuals displaying
intermediate traits and fewer at the extremes.
[Link] traits are typically influenced by multiple
genes (polygenic inheritance) and environmental
factors.
[Link] variation results in a range of phenotypes, often
forming a normal distribution curve.
[Link] like height, body mass, and wrist circumference are
examples.
Discrete variation
Discrete variation involves traits that fall into distinct,
separate categories.
Why Skin Color is A Continuous Trait?
[Link] humans in Africa evolved dark skin to protect against intense
sunlight and UV rays.
[Link] humans migrated to regions with less sunlight, lighter skin evolved to
synthesize vitamin D more effectively.
[Link] this genetic influence, skin colour is still considered a continuous
variablebecause it shows a range of values influenced by multiple genes
and the environment.