UNIT: HEREDITY LEVEL: STANDARD

INHERITANCE

Content Statements:
D3.2.1 Produc-on of haploid gametes in parents and their fusion to form a diploid zygote
D3.2.2 Methods for conduc-ng gene-c crosses in flowering plants
D3.2.3 Genotype as the combina-on of alleles inherited by an organism
D3.2.4 Phenotype as the observable traits of an organism resul-ng from genotype and environment
D3.2.5 Effects of dominant and recessive alleles on phenotype
D3.2.6 Phenotypic plas-city as the capacity to develop traits suited to the environment experienced
by an organism, by varying paIerns of gene expression
D3.2.7 Phenylketonuria as an example of a human disease due to a recessive allele
D3.2.8 Single-nucleo-de polymorphisms and mul-ple alleles in gene pools
D3.2.9 ABO blood groups as an example of mul-ple alleles
D3.2.10 Incomplete dominance and codominance
D3.2.11 Sex determina-on in humans and inheritance of genes on sex chromosomes
D3.2.12 Haemophilia as an example of a sex-linked gene-c disorder
D3.2.13 Pedigree charts to deduce paIerns of inheritance of gene-c disorders
D3.2.14 Con-nuous varia-on due to polygenic inheritance and/or environmental factors
D2.1.15 Box-and-whisker plots to represent data for a con-nuous variable such as human height

SEXUAL LIFE CYCLE

Gametes are sex cells formed by the process of Haploid Cells Diploid Cells
meiosis – males produce sperm and the females
FUSION
produce ova. The gametes are haploid, meaning
they only possess one copy of each chromosome. Zygote
When egg and sperm fuse during fer-lisa-on, the MITOSIS
resul-ng offspring will contain two copies of each Egg
Sperm
chromosome (these cells are classed as diploid).
These new diploid cells will be gene-cally unique MEIOSIS
as they contain chromosomes from two sources.

AUTOSOMES
In all sexually reproducing organisms, chromosomes will exist as homologous pairs
(i.e. a maternal copy and a paternal copy). The homologous pairs will have iden-cal
structures (same size, same centromere posi-on, same banding paIerns) and will
also carry the same sequence of genes at the same loci posi-ons. However, as the
paired chromosomes came from different origins (maternal versus paternal copy),
the two alleles at each gene locus may be different. Any chromosome that always
exists as a matched pair is called an autosome (i.e. not the sex chromosomes). PAIR 1 PAIR 2
SEX CHROMOSOMES
In diploid organisms, sex is determined by a pair of chromosomes called
sex chromosomes (heterosomes). Unlike autosomes, sex chromosomes Y
are not homologous and possess different genes. Sex in humans will be
determined by the XY system. Males possess an X chromosome and a
much shorter Y chromosome (XY), while females possess two copies of
the larger X chromosome (XX). The Y chromosome contains the genes
responsible for developing the male sex characteris-cs. In its absence, X
the female sexual characteris-cs will alterna-vely con-nue to develop.

GENOTYPE
All members of a single species will share iden-cal genes, but individuals may possess different versions of
a specific gene-c characteris-c. These alternate forms of a gene are called alleles. Alleles typically differ by
only one or a few bases and new alleles can be made via gene mutaEons. The complete set of alleles that a
given organism possesses is called the genotype – it reflects the gene-c iden-ty of a par-cular individual.

Gene: Eye Alleles: Different shades (brown, blue, green, etc.)

color

TYPES OF ZYGOSITY
For any given gene, the combina-on of alleles (genotype) can be categorised as follows:
• Homozygous: If maternal and paternal alleles are the same, the genotype is said to be homozygous
• Heterozygous: If maternal and paternal alleles are different, the genotype is said to be heterozygous

Males have different sex chromosomes (XY), meaning they have only one allele for each sex-linked gene.
When there is only one copy of an allele for a gene, the individual is said to be hemizygous for that gene.
Individuals who are hemizygous cannot be carriers of recessive disease condi-ons – this is the reason why
X-linked recessive disorders occur more commonly in males.

HOMOZYGOUS HETEROZYGOUS HEMIZYGOUS

Alleles are the same Alleles are different Only one allele (males)

PHENOTYPE
Phenotype describes all of the observable characterisEcs of a given organism, and will be influenced by
both the genotype and the environment. Unlike the genotype, which represents the gene sequences, the
phenotype is a reflec-on of the proteins that are produced. The type of proteins produced by a cell will be
determined by the genotype, but the ac-vity or expression of the proteins can be impacted by a variety of
environmental factors. For example, produc-on of skin pigment (melanin) is influenced by sun exposure.
EPIGENETICS
While the genotype is an important factor in determining the
physical expression of inheritable characteris-cs (phenotype),
it is not the only contribu-ng factor. A phenotype can also be
influenced by the paIerns of expression of par-cular genes.

Epigene-cs describes differences that are caused by changes

in gene expression, rather than by changes within the allele
sequence (phenotypic plasEcity). There are various factors
that determine whether a given gene is switched on or off:
• Diet: Certain foods trigger specific metabolic responses
• Lifestyle: Gene expression is influenced by ac-vity levels Nature Sport Disease Diet
• Environment: External condi-ons (UV) can ac-vate genes
Epigene'cs can influence phenotype
• Pathogens: Diseases result from a loss of homeostasis

GENETIC CROSSES
Gene-c crosses determine the allele combina-ons and phenotypes for poten-al offspring. Gene-c crosses
are oeen conducted using plants, as pollen transfer requires external agents that can easily be controlled
and this allows breeding to be carefully manipulated. Plants also have the benefit of being able to produce
many seeds in short periods of -me. Gene-c crosses can be performed according to the following steps:
• Designate poten-al alleles (dominant = capital leIer, recessive = lowercase, codominant = superscript)
• Write down the genotype and phenotype of the prospec-ve parents (this is the P genera-on)
• Draw a grid with maternal gametes on the top and paternal gametes on the lee (this is a PunneO grid)
• Complete the PunneI grid to determine the genotypes and phenotypes of offspring (F1 genera-on)

MODES OF INHERITANCE
A monogenic trait describes a characteris-c that is encoded by a single gene. The two alleles may interact
in different ways to affect the physical expression of the trait (phenotype). The way in which alleles are
expressed is called the mode of inheritance. Different paIerns can arise depending on the allele behaviour:
• Complete dominance: One allele is expressed (dominant) over another allele (recessive)
• Codominance: Both alleles are autonomously expressed to create a dual phenotype (both present)
• Incomplete dominance: Neither allele is completely expressed, resul-ng in a blended phenotype
• Sex-linkage: The gene is on a sex chromosome and so the inheritance will demonstrate sex bias
1. COMPLETE DOMINANCE
Most traits follow a classical dominant / recessive paIern of inheritance, whereby one allele is expressed
over the other allele. The dominant allele will mask the recessive allele when in a heterozygous state and
the homozygous dominant and heterozygous forms will therefore be phenotypically indis-nguishable (the
recessive allele will only ever be able to be expressed within the phenotype when in a homozygous state).

When represen-ng alleles, the conven-on is to capitalise the dominant allele and use a lowercase leIer for
the recessive allele (same leIer must be used as the alleles are alterna-ve versions of the same gene).
• Example: Mouse colour coats – black fur coats (BB or Bb) are dominant to brown fur coats (bb)

An example of a gene-c disorder caused by a recessive allele is phenylketonuria. This disorder is caused by
a muta-on to the gene that codes for an enzyme needed to convert phenylalanine into tyrosine. The excess
phenylalanine is instead converted into phenyl ketone – which builds up to toxic levels within the blood and
urine. Untreated PKU can lead to brain damage and mental retarda-on, as well as other serious medical
issues. PKU is treated by enforcing a strict diet that restricts the intake of phenylalanine to prevent its build
up within the body. This low-protein diet should include certain types of fruits, grains and vegetables, along
with precise quan--es of amino acid supplements. Because the condi-on is recessive, both parents must
either have the condi-on themselves or be heterozygous carriers in order to pass the disease to offspring.

2. CODOMINANCE
Codominance occurs when pairs of alleles are both expressed equally in the phenotype of a heterozygote.
Heterozygous individuals therefore have a different phenotype in comparison to homozygous dominant
individuals as the alleles are having a joint effect.

When represen-ng alleles, the conven-on is to use a common capital leIer with superscripts to represent
the different versions of the dominant allele (recessive alleles are s-ll represented with a lowercase leIer).
• Example: Human blood groups – IA and IB alleles are codominant, allowing for an AB blood group (IA IB)

Fun fact: As the immune system targets foreign markers, O blood is the universal donor type (no markers).
3. INCOMPLETE DOMINANCE
Incomplete dominance occurs when two characteris-cs blend together in the phenotype of a heterozygote.
An example of incomplete dominance can be seen in the flower colour of Mirabilis jalapa (commonly called
the four o’clock flower or the marvel of Peru). When plants with dark pink flowers (CP CP) are crossed with
white-flowered plants (CW CW), the offspring will have light pink flowers (CP CW). This reflects the fact that
neither allele for flower colour (dark pink or white) is wholly dominant or recessive, so the heterozygous
combina-on will produce a blended trait. The lighter coloura-on is caused by the fact that only the allele
for a dark pink flower codes for pigment (white flowers produce no pigment), so heterozygotes produce
less amounts of pigment overall – leading to the lighter coloura-on.

4. SEX LINKAGE
Sex linkage refers to when a gene is found on a sex chromosome (X or Y). Because males and females have
different combina-ons of sex chromosomes (males = XY ; females = XX), the paIerns of inheritance will be
different according to the sex of the offspring. Sex linkage typically refers to X-linked genes specifically, as
the Y chromosome is very short and has very few genes present (< 100). Sex linked alleles are represented
as superscripts aIached to the relevant sex chromosome (example: XA or Xa).

X-Linked Dominant Traits:

• As females possess two X chromosomes, an X-linked dominant trait will be more common in women
• An affected father always has affected daughters (daughters must inherit the father’s X chromosome)
• Sons only inherit the condi-on if the mother is affected (sons inherit their X chromosome from mother)

X-Linked Recessive Traits:

• As males only possess one X chromosome, an X-linked recessive trait will be more common in men
• This is because males cannot be carriers for X-linked recessive traits (they cannot be heterozygous)
• Affected mothers always have affected sons, while unaffected fathers cannot have affected daughters

An example of an X-linked recessive disorder is haemophilia. Haemophilia is a gene-c disorder whereby the
body’s ability to control blood clomng (and hence stop bleeding) is impaired. The gene responsible for
controlling the clomng cascade is located on the X chromosome, meaning it occurs more frequently in
males. Females can only develop haemophilia if they possess two recessive alleles (one from each parent),
which means that the father must be a haemophiliac for the daughter to be affected.
PEDIGREE CHARTS
A pedigree is a chart of the gene-c history of a family over several genera-ons. Males are represented as
squares (☐), while females are represented as circles (¡). Shaded symbols denote a condi-on of interest.
A horizontal line between man and woman represents ma-ng, and all offspring are shown as offshoots.
Genera-ons are listed using roman numerals (I, II, III, IV, etc.) and individuals are numbered from eldest to
youngest (for example: the youngest of three grandchildren would be labelled as III-3).

Certain paIerns in a pedigree chart can be used to iden-fy the mode of inheritance for a given condi-on:
• Autosomal dominant: If both parents are affected and any offspring are not, the condi-on must be
dominant (unaffected offspring are homozygous recessive and both parents must be heterozygous).
• Autosomal recessive: If both parents are unaffected and any offspring are not, the condi-on must be
recessive (affected offspring are homozygous recessive and both parents must be heterozygous).

It is not possible to conclusively determine sex linkage from pedigree charts, as autosomal traits could
poten-ally generate the same results. However certain trends can show that a trait is not sex-linked:
• X-linked dominant: If a male is affected, all daughters must be affected. An unaffected mother cannot
have an affected son (or an affected father). Traits will tend to occur more frequently in females.
• X-linked recessive: If a female is affected, all sons must be affected. An unaffected mother can have
affected sons if she is a carrier (heterozygous). Traits will tend to occur more commonly in males.

POLYGENIC INHERITANCE
Some characteris-cs are determined by the interac-on of mulEple genes (polygenic traits). These traits will
consequently exhibit a far greater spectrum of varia-on (i.e. conEnuous variaEon). Traits that exhibit
con-nuous varia-on will be normally distributed and include human height, weight and skin coloura-on.

Con-nuous varia-on can be represented graphically via box-and-whisker plots. These plots can show the
spread of data by iden-fying minimum, maximum and median values. Outliers can be iden-fied as falling
outside the first or third quar-les by a value of more than 1.5 -mes the interquar-le range (IQR).

1 1 2 2 3 4 5 6 7 7 8 9 9 9 Minimum
Min == 11 Maximum
Max = 9 = 9 Median = 5.5
Q1 = 2Q1 =Median
2 Q3 = 8Q3 = 8
= 5.5 IQR = 8 – 2 = 6
Outliers = Q1 – ( 1.5 × IQR ) = < –7
Minimum Outlier = 2 – (1.5 × 6) = less than –7
1 2 3 4 5 6 7 8 9 Outliers = Q3 + Outlier
Maximum ( 1.5 × IQR
= 8 )+=(1.5
> 17× 6) = more than 17