Unit 5.

Genetics
(2022-2023)

Unit 5. Genetics
Genetics is the study of how hereditary characters are transferred from one individual to
another. Let’s review some basic concepts which are fundamental for a better understanding of
the unit.

NUCLEIC ACIDS

Nucleic acids are macromolecules composed of monomers called nucleotides. (Composed of C,

H, O, N and P) There are two types of nucleic acids: ribonucleic acid (RNA) and
deoxyribonucleic acid (DNA). All living organisms contain both types of nucleic acids. Viruses
(which as you should remember are not considered to be living organisms) only contain one type
of nucleic acid.

Nucleotides: A nucleotide is composed of

three parts:

1. A phosphate group (P)

2. A pentose (a five-carbon monosaccharide), which can be: ribose (R) or
deoxyribose (D). Nucleotides which contain a ribose are called ribonucleotides, and those
which contain a deoxyribose are called deoxyribonucleotides.
3. A nitrogenous base: adenine (A), guanine (G), cytosine (C), thymine (T) and
uracil (U). The first three bases are common to both types of nucleotides. In ribonucleotides,
the fourth base is always uracil (never thymine); while in deoxyrybonucleotides the fourth base
is always thymine (never uracil). The bond between the sugar molecule and the nitrogenous
base is called a nucleoside.

Within cells there are other types of nucleotides which do not make up nucleic acids. Among
these types of nucleotides ATP (adenosine-triphosphate) stands out.

Two nucleotides joined together gives rise to a dinucleotide. Many nucleotides joined together
form a polynucleotide. Nucleic acids are polynucleotides. RNA is a polynucleotide made of
ribonucleotides, whilst DNA is a polynucleotide made of deoxyribonucleotides.

DNA

Deoxyribonucleic acid is found in the nucleus of eukaryotic cells, and in the cytoplasm
of prokaryotic cells (we will see this later on). It consists of two polynucleotide chains or
strands, as they are called, that spiral around an imaginary axis to form a double helix
(a spiral staircase shape). The two strands of the double helix are complementary to

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each other. Only certain bases are compatible with each other: Adenine will only fit
next to Thymine and Cytosine will only fit next to Guanine. Therefore, if in one of the
strands there is an adenine, in the other strand there will be a thymine, and vice versa.
In the same way, when in one strand there is cytosine, in the other there will be
guanine, and vice versa.

(Scheme taken from http://www.ageds.iastate.edu/meat/images/dna2.gif)

Additionally, the two strands are anti parallel to each other; one is inverted with
respect to the other. One of them goes from 5’ to 3’ while the other from 3’ to 5’. This
double helix structure described by Watson and Crick is very stable due to the
hydrogen bonds between the nitrogenous bases: 2 hydrogen bonds between A and T,
and 3 hydrogen bonds between G and C.

Function: DNA is the most important molecule in living organisms since it contains the
genetic material of the organism, which will also be transferred to its descendants. DNA
is the main component of chromosomes which are long coils of double-stranded DNA,
which contain the genes. A gene is a portion of DNA- of chromosome- responsible
for a particular hereditary character (the unit of hereditary information); or, as we will
see later on, responsible for protein synthesis. Each gene determines the synthesis of a
particular protein.

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RNA

Ribonucleic acid is a single-stranded polynucleotide molecule. There are three types of

RNA in living organisms: ribosomal RNA (rRNA), transfer RNA (tRNA) and messenger
RNA (mRNA).
Function: the function of RNA is to aid in protein synthesis, and therefore in the
expression of the genetic information encoded in DNA.

The genetic information

As we have already said, the genetic information is found in the DNA. But, how? This
information is encoded in a particular sequence or order of its nucleotides. You could
compare it to the order of the letters in a sentence. Every living organism is
characterized and defined by a determined order of such nucleotides.

The information encoded in DNA is organized in small units called genes. A gene is a
portion of DNA that carries the information for a particular character of an individual
(e.g. eye colour). Genes are located one after another along the filaments of DNA. Each
DNA filament is a chromosome. In the nucleus of each and every cell of an organism
there are a determined number of chromosomes. Each species of organisms has its
own number of chromosomes, which will be the same in all of its cells, with the
exception of sex cells or gametes. (Gametes contain half the number of chromosomes
than the rest of the cells). For example, we humans have 46 chromosomes inside each
of our cells (23 pairs). A chimpanzee has 48 chromosomes (24 pairs) inside each of its
cells etc. Therefore, all genes a species contains are found in the chromosomes (the
entire set of genes of an organism is its genome). In humans, each cell contains about
sixty thousand genes (60 000), which are located throughout the 23 pairs of
chromosomes. The genetic information of those genes is exactly the same in each cell
of the individual. However, not all cells in our body are the same nor do they carry out
the same functions. That is because not all of these genes are used by any one cell at
any one time. Just a few genes will be ‘switched on’ in any one cell at any one time and
the rest of the genes remain ‘switched off’. For example, a nerve cell will express a set
of genes that will not be expressed in a muscle cell and vice versa.

How is the genetic information expressed?

We have said that each gene – portion of DNA- contains the information of a particular
character, such as eye color. Now, how can a piece of DNA, with its particular
nucleotide sequence, have information to determine that a person will have, for

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example green eyes? The answer lays in proteins; which are the molecules that carry
out cellular functions. What genes really have are chemical instructions for protein
synthesis. Each gene determines the synthesis of a particular protein. As we will see
later on, the synthesized protein will be responsible for the expression of that
particular character, such as the green-colored eyes (refer to protein synthesis).
As we have seen, in order for the genetic information contained in genes (in DNA) to be
expressed, such information must be passed down to proteins. Proteins are synthesized
in the ribosomes, which are in the cytoplasm of the cell, so the information must
somehow get to them. This process, known as protein synthesis, is carried out with the
aid of other molecules (mRNA, rRNA and tRNA), and it has two steps (phases).

1st Transcription: the information contained in the DNA –in the gene- is
transferred to a molecule of mRNA (transcription takes place in the nucleus of the cell).
The mRNA leaves the nucleus taking the information to the cytoplasm of the cell.

2nd Translation: Once in the cytoplasm the mRNA joins with the organelles
known as ribosomes, which will translate the information into a protein. There will be a
different protein for each gene and each protein will be responsible for a particular
character of the individual- green colored eyes-.
This is the first property of DNA,- transcription and translation- and it is the
process by which the genetic code is expressed.
Transcription
Translation

DNA mRNA PROTEIN

Replication

2 DNA

Additionally, DNA presents another property only present in

living organisms; it can make copies of itself: replication.
During replication, a double-stranded DNA molecule is copied
to produce two identical DNA molecules. Replication is
essential; thanks to this property a cell can divide and make
two daughter cells that are identical to each other and identical
to the mother cell with the same genetic information.
Sometimes, when DNA replicates mutations or alterations of
the information take place. These mutations are responsible
for the introduction of new characters in organisms, which
with time, will lead to the evolution of the species.

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WHAT IS A GENE?

A gene is a section of DNA that codes for a specific protein.

It is the basic unit of hereditary. Genes hold the information needed to build and
maintain an organisms cells. This determines the traits of the organism. These genetic
traits can then be passed on to offspring.

MUTATIONS

A genetic mutation is a permanent change in the DNA sequence. If it occurs in somatic

(normal body) cells then it is not passed on to offspring. However, if a mutation occurs in
the DNA of a gamete (egg or sperm) it may be passed on to offspring. Fot the most part,
genetic differences between organisms come from some kind of mutation. Every unique
gene began as a mutation of an existing gene.

Mutations occur naturally as accidental changes to DNA or chromosomes during the cell
cycle. There are enzymes that repair and check DNA during replication but these
enzymes are not always 100% effective so changed or damaged DNA can be replicated.

The rate of mutation can be increased by some environmental factors. These factors are
called mutagens and include things like UV light, radiation, X rays and some chemicals..

The effect of mutations depends on where and when the mutation occurs. Because of
the way DNA is translated, a change in the DNA code may affect just one amino acid in a
protein or cause the entire protein to be translated incorrectly… Most mutations have
no visible effect on the organism. For mutations where there is an effect the result is
usually bad. An incorrect protein works less effectively or doesn't work at all and this
decreases the fitness of the organism. In very rare cases a mutation might result in a
protein that works better or does something new that provides an advantage to the
organism. This is what allows species to evolve and adapt to new conditions over time.

Types of mutations

There are many different ways that DNA can be changed, resulting in different types of
mutation. Here is a quick summary of a few of these:.

1. Substitution: a mutation that exchanges one base for another. This one is also
known as a missense mutation.

2. Insertion: a mutation in which extra base pairs are inserted into a new place in
the DNA.

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3. Deletion: a mutation in which a section of DNA is lost, or deleted.

Frameshift: Since protein-coding DNA is divided into codons three bases long, insertions
and deletions can alter a gene so that its message is no longer correctly parsed.

There are other types of mutations as well, but this short list should give you an idea of
the possibilities.

THE NEW GENETIC OR DNA TECHNOLOGY

Since the 70’s there have been great advances in the knowledge of nucleotides, as well
as some major developments in DNA technology (known as recombinant DNA
technology or genetic engineering) that allows the manipulation of genetic material.
DNA technology has launched an industrial revolution in biotechnology: specific genes
can be isolated, large amounts of pure DNA can be obtained, DNA can be spliced at
specific locations, genes from one organism can be transferred to other living
organisms where it can be replicated and expressed (transgenic organisms), the
synthesis of artificial genes etc.
The application of DNA technology is of great importance in different fields such as the
medical field, in the diagnosis of diseases and a possible cure of such diseases; in the
forensic field, identifying dead people or possible criminals; in the pharmaceutical
industry, in agriculture etc. The old mysteries of Genetics have now become clearer,
but the manipulation of the genetic material opens up new unknowns.

GENETIC ENGINEERING

What is genetic engineering?

It is a group of techniques which allow the manipulation of the genome of a living
organism.
Such genetic manipulation basically consists of the following:
a) Insertion of new genes into a genome (transferring genes).
b) Eliminating existing genes.
c) Modifying the information of a particular gene.
The advances achieved in the field of molecular Genetics, (in reference to the genetic
material its replication and transcription), have been the basis for a group of techniques
used for manipulating and analysing DNA used in genetic engineering and known as
recombinant DNA technology.

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The use of genetic engineering in research has allowed the production of valuable
products by manipulating the genetic material of microorganisms such as: insulin
and the growth hormone, interferons, vaccines, enzymes for industrial use, etc.
Additionally, manipulation of the genome of some organisms has allowed the
development and production of a number of transgenic organisms (animals and
plants) for potential agricultural use.

PRACTICAL APPLICATIONS OF GENETIC ENGINEERING

1. Gene therapy. Genetic engineering has the
potential to actually correct some genetic
disorders in individuals. In the near future,
many therapeutic treatments will not be
providing the individual with the molecule
that he/she is not able to synthesize
(insulin, growth hormone etc), but rather
supplement the defective gene with a
functional, normal gene, so that the
individual can again synthesize its own
molecule.
2. Making antibiotics. Traditionally specific
strains of microorganisms were used for the
production of antibiotics. With genetic
engineering, the genes responsible for the
production of the particular antibiotic are
cloned in microorganisms. Modified
antibiotics can also be obtained.
3. Producing mammalian proteins. Before
genetic engineering a number of proteins of
medical interests (insulin, growth hormone,
several proteins of the immune system –
such as molecules called interferons) were
directly obtained from tissues. Nowadays,
these are made by recombinant DNA procedures. The genes in charge of a particular
protein are cloned in microorganisms for use in treating human patients E.g. Human
insulin is produced in bacteria or yeast – Saccharomyces cerevisiae.

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4. Vaccines. Traditional vaccines for viral diseases are of 2 types: particles of a virulent
virus that have been inactivated by a chemical or physical means, and active virus
particles of an attenuated (non-pathogenic) viral strain. In both cases some risks are
taken as not all the micoorganism is completely inactivated. With genetic
engineering, since most antigens are proteins, the genes of interest are cloned. (An
antigen is a foreign substance that triggers an immune response; some antigens
include molecules of viruses, bacteria, fungi, etc). Recombinant DNA techniques can
generate large amounts of a specific protein molecule from the protein coat of a
particular disease- causing virus, bacterium or other microbe. This avoids the risks
mentioned earlier.

5. Production of transgenic organisms (animal and plants). It is possible to produce

living organisms which genome has been artificially modified by the insertion of
genes. Transgenic animals are produced by injecting foreign DNA into the nuclei of
egg cells or early embryos. And transgenic plants are usually obtained by using DNA
vectors to move genes from one organism to another in cell cultures.

Chromosomes and the cell cycle

The cell cycle is the period that goes from the
moment the cell has just been formed (from the
division of the mother cell into two), to the point
where the same cell divides in two daughter cells.
The period when the cell is not dividing is called
interphase. Therefore, the cell cycle consists of
two successive mitotic divisions alternated with a
much longer interphase or growth period.
Interphase consists of three periods of growth, the

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first period is called G1 (gap 1). This is when the cell grows in size and organelles are
being duplicated. The cell starts performing its functions. This is followed by the S
(synthesis) phase, during which the chromosomes duplicate. Then during the G2 (gap
2) phase the cell starts to prepare for Mitosis. Mitosis divides the nucleus and its
chromosomes, and cytokinesis divides the cytoplasm, producing two daughter cells.

(Scheme taken from

http://bhs.smuhsd.org/bhsnew/academicprog/science/vaughn/Student%20Pr
ojects/P aul%20&%20Marcus/cycle.jpg)

Figure 1: Chromosome. (1) Chromatid. One of the two identical parts of the
chromosome after S phase. (2) Centromere. The point where the two chromatids
touch, and where the microtubules attach. (3) Short arm. (4) Long arm.

(Schemes taken from http://www.biocrawler.com/encyclopedia/Chromosome and

http://home.planet.nl/~gkorthof/images/chromosome_structure.jpg

During the interphase the long filaments of DNA-protein complex called chromatin are
spread through the nucleus. The proteins associated with the DNA are called histones.
During all three phases of the interphase the chromatin is transcribing itself (therefore
synthesizing RNA, mRNA, tRNA and rRNA). It is an active period. However, when the

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cell is getting ready to divide, the chromatin condenses into compactly folded and
coiled chromosomes. These chromosomes now do not transcribe. The cell copies its
entire genome by duplicating its chromosomes during the S phase, after replication
each chromosome consists of two sister chromatids (each a collection of the same
genes present in single copy prior to replication). The sister chromatids are held
together by a structure called the centromere. The end parts of a chromosome are
called the telomeres.

Once cellular division has come to an end, each daughter cell has one sister chromatid
from every chromosome (see mitosis later on) so both daughter cells carry identical
information. As the interphase starts in each of the new daughter cells, chromosomes
start to uncoil going back to the thin fiber chromatin. The chromatin is so thin it can not
be seen very well. It starts again to transcribe, then during the S phase it replicates to
be ready for the next mitotic division.

The majority of the cells of an organism are diploid (2n); they have two sets of
chromosomes. Chromosomes go in pairs (homologous), of the same size and shape,
and have the same information for the same characters but they are not identical. In a
particular place of a chromosome (the same place for both of the pair) we will find the
information for hair colour, but in one chromosome we could have the allele for black
hair and on the homologous chromosome the allele for blond hair. Each homologous
chromosome comes from one of the parents. To summarize, we can say that a diploid
cell has 2n chromosomes, where n indicates the number of one set of chromosomes.
This number is characteristic of each species.

Let’s use humans as an example. In all normal body cells (somatic cells) we have 2n
chromosomes as these cells are diploid (2n is 46, therefore, n is 23). However, the
number of chromosomes in a gamete – sperm and ovum- is the haploid number n.
Cells that are haploid only have one set of chromosomes. When fertilization takes place
during sexual reproduction, two haploid gametes fuse together to restore the diploid
number in the zygote (46 in humans).

When normal body cells – somatic cells- divide, they do it through a process known as
mitosis. First of all, cells will replicate their DNA, their chromosomes. Therefore, they
will have 4n chromosomes (92 in humans) and then 23 homologous pairs will go to each
new daughter cell. Therefore, daughter cells are identical to each other and to the
mother cell (all diploid cells).

However, sex cells, or gametes, divide through a process known as meiosis. Again, they
will first replicate their DNA, having 4n chromosomes, but they undergo two divisions.

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From the first division 2 cells are formed each having 2n chromosomes, which again
divide resulting in a total of four haploid cells (n), each different from the other and
different from the mother cell. When gametes fuse during fertilization, the
characteristic 2n of the species is restored.

In mammals and other living organisms there is a chromosome pair that determines the
sexual characteristic of the individual. These are called sex chromosomes X and Y.
Females have two X chromosomes and males have an X and a Y chromosome. The rest
of the 44 chromosomes (in humans) are called autosomes (autosomal chromosomes).
The group of chromosomes of a cell is the karyotype. Chromosomes can be classified by
their homologous pair, and ordered by size and shape. The order obtained is called an
idiogram. Using specific staining techniques, banding of chromosomes is obtained
which allows us to pair the homologous chromosomes, as well as to group them by
decreasing size. This also allows us to determine some genetic diseases.

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Cellular division in eukaryotic cells: Mitosis

Cellular division in eukaryotic cells consists of

two phases: first the nucleus divides (mitosis)
and then the cytoplasm divides (cytokinesis).
The scheme on the right shows the stages of
mitotic cell division in an animal cell.

Mitosis is a cell reproduction process by which

multicellular organisms regenerate lost or
damaged cells, or simply makes new cells. In
the case of unicellular organisms it can be
considered as asexual reproduction. It does
not generate genetic variability, as the new
daughter cells are identical to each other and
to the mother cell. This is how all somatic cells
divide (epithelial cells, liver cells, etc. All but
sex cells).

Meiosis
Concept: it is a type of cellular division needed in organisms with sexual reproduction.
In sexual reproduction, there is fertilization, which is the fusion of haploid gametes to
restore the diploid number in the zygote. The zygote, by successive mitotic divisions
gives rise to the multi-cellular organism, which cells are therefore diploid, all
containing identical genetic information.

If the gametes were also produced by mitosis, these would be diploid and genetically
identical. During fertilization, the fusion of these diploid gametes would produce a
tetraploid (4n) zygote, which would give rise to 4n organisms. In the same line, these

4n organisms would produce 4n gametes…. and so on. In each generation the number
of chromosomes of the species would be doubled. Therefore a mechanism of cell

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division is needed where the number of chromosomes is reduced (halved): going from
2n cells to n cells. This process is meiosis.

Besides being necessary, meiosis is very beneficial, as it generates genetic variability:

the daughter cells are different from each other and also different from the mother
cell.

Process: meiosis (like mitosis) is preceded by the replication of chromosomes or DNA.

However, this single replication is followed by two consecutive cell divisions, called
meiosis I and meiosis II. These divisions result in four daughter cells (rather than the
two daughter cells of mitosis), each with only half as many chromosomes as the parent.

Meiosis I: consists of prophase I, metaphase I, anaphase I and telophase I.

During prophase I homologous chromosomes, each made up of two chromatids,

come together as pairs (forming a tetrad, a complex of four chromatids). At numerous
places along their length, nonsister chromatids (chromatids belonging to homologous
chromosomes, in contrast to sister chromatids belonging to the same chromosome) are
criss-crossed and recombined. As a result of these crossings, mixed
chromatids are formed with fragments from the mother and the father chromosomes
(this is the first source of variability in meiosis)

During metaphase I, the homologous pairs are randomly arranged on the metaphase
plate: sometimes the paternal chromosome is on the right and the maternal on the left
and it could also be the other way around. This way many different and diverse
combinations can happen (this is the second variability source of meiosis: for example,
a new daughter cell could have chromosomes 1, 2’, 3, 4, 5’ etc, while the other would
have
1’, 2, 3’, 4’, 5 etc).

In anaphase I and telophase I the homologous chromosomes migrate toward the

opposite poles of the cells. Segregation of chromosomes (each pole now has a haploid
chromosome set, but each chromosome still has two chromatids) and finally
cytokinesis, usually occurring simultaneously with telophase I forms two daughter cells
each with only one of the homologous chromosomes.

There is no further replication of the genetic material prior to the second division of
meiosis II.

During the 2nd meiotic division, the two chromatids of each chromosome separate into
the daughter cells in a very similar way as mitosis. At the end of meiosis II there will be

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four daughter cells, each with the haploid number (n) of chromosomes and genetically
different from one another and from the mother cell (genetic variation).

SUMMARY: Meiosis is a cellular division necessary for organisms with sexual

reproduction. Meiosis reduces the number of chromosomes by half (which will be
restored during fertilization) and allows for genetic variation (the daughter cells are
genetically different from each other, and also from the mother cell).

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MENDELIAN GENETICS
Gregor Mendel, the father of genetics,
was an Austrian monk that lived in the XIX
century. He worked on the transmission
of the characters of pea plants through
successive generations. Gregor Mendel
discovered the basic principles of
heredity by breeding garden peas in
carefully planned experiments. Mendel
spoke of heritable factors.
The concepts of gene and
chromosome came later. Walter Sutton
and Theodore Boveri in 1903 proposed
the chromosome theory of inheritance.
And thanks to the works of Watson and
Crick about the nature of DNA, it was
proven that the heritable factors (the
genes) were in fact DNA fragments.

http://www.jic.ac.uk/germplas/pisum/zgs4f1.gif

These are the main concepts that you should know:

GENE: there are different ways to define a gene. If we are talking about classic or
Mendelian genetics, we will define a gene as a sequence of nucleotides (usually a DNA
fragment, but in viruses composed of RNA it is an RNA fragment) that contains
information for a particular character, e.g. the gene that determines eye colour.
(Geneticists use the term character for a heritable feature, such as eye colour, that
varies among individuals. Each variant for a character, such as brown or blue, is called a
trait).

A more complete definition of a gene is:

A sequence of nucleotides to which a specific function can be assigned. Examples of
such functions: a) control of the expression of a particular character; b) coding of a
specific polypeptide chain (the transcription of itself into mRNA and the following
translation into a polypeptide chain in the ribosomal unit); that it transcribes to tRNA;
d) transcription to rRNA.
Each gene occupies a specific position on a chromosome called its locus (loci –plural).
Genes are passed down from parents to offspring (via the gametes) during sexual
reproduction. Each gamete has one set of chromosomes (they are haploid).
Fertilization between a male and a female gamete gives rise to a zygote, with two sets
of chromosomes (diploid). The individual from that zygote will also have two sets of

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chromosomes (also diploid). E.g. Humans have 23 chromosomes in their gametes or sex
cells (ovum and sperm). The rest of the cells of our body have 23 pairs (46) of
chromosomes.

HOMOLOGOUS CHROMOSOMES are a pair of chromosomes having the same

structural features. Each member of the pair of chromosomes has the same number
and pattern of genes. The genes found in the same locus on both chromosomes carry
information for the same character, but may have different alleles.

ALLELE (OR ALLELOMORPH): An allele is an alternative form that a gene can have due
to successive mutations. They are found in the same locus in each homologous and
carry information for the same character, e.g. the gene that determines straight hair
and that which determines curly hair. A gene can have multiple alleles, but diploid
organisms can only have two of those, as we have our chromosomes in pairs.

HOMOZYGOUS (TRUE-BREED): An organism which has a pair of identical alleles for a

certain character is said to be homozygous for that character. Normally genes are
represented by letters, so a homozygous organism will have the same letters (AA, aa,
BB, etc)

HETEROZYGOUS (HYBRID): Organisms having different alleles for a character. E.g. Aa,
Bb, etc.

COMPLETE DOMINANCE (DOMINANT HEREDITY): In all hybrid individuals an allele (the

dominant allele) for a particular character, is fully expressed, and the other allele or
recessive allele has no noticeable effect on the organisms appearance.

CODOMINACE: Neither allele is dominant or recessive. Instead both alleles are

separately (equally) manifested in the phenotype. E.g. human blood type group AB.

INCOMPLETE DOMINANCE: It is characterized by an intermediate phenotype. For

example the pink flowers of snapdragon hybrids.

GENOTYPE: It is the genetic information of a particular organism as specified by its

alleles. The genotype is hereditary, as progenitors pass it down to their offspring, e.g.
AaBb, etc.

PHENOTYPE: It is the observable characteristics of an organism produced by the

interaction of its genes and the environment which surrounds its development. E.g.
Black hair, blue eyes, etc.

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SEX CHROMOSOMES AND SEX-LINKED INHERITANCE

Generally, males produce small motile gametes, and females produce large non-motile
gametes. Although the anatomical and physiological differences between male and
females are numerous, the chromosomal basis of sex is rather simple. Most frequently,
in determining the sex of an individual there are two chromosomes involved. These are
known as heterochromosomes or sex chromosomes (we have already seen that
chromosomes which do not determine the sex are called autosomes) In humans and
many other species, there are two varieties of sex chromosomes, designated the X and
the Y chromosomes. Females have two X chromosomes (genotype XX), and males have
an X chromosome and a smaller Y chromosome (genotype XY). When meiosis occurs in
the gonads (male testes and female ovaries), the two sex chromosomes segregate, and
each gamete receives one. Each ovum contains one X chromosome. In contrast, half
the sperm cells contain an X chromosome, and half contain a Y chromosome. If a sperm
cell bearing an X chromosome happens to fertilize an ovum, the zygote is XX, a female;
if a sperm cell containing a Y chromosome fertilizes an ovum, the zygote is XY, a male.
Sex is a matter of chance; a 50% probability for each sex.

In addition to the role of sex chromosomes in determining sex, these chromosomes,

especially the X chromosome, have genes for many characters unrelated to sex.
Therefore, the heredity of such characters is sex-linked. In humans the term sex-linked
usually refers to X-linked characters. Fathers pass X-linked alleles to all their daughters,
but to none of their sons. On the other hand, mothers can pass sex-linked alleles to
both sons and daughters. There are very few but yet some characters which are Y-
linked. Fathers pass Y-linked alleles to all their sons. If a sex-linked (X-linked) trait is due
to a recessive allele, a female will express the phenotype only if she is a homozygote.
Any males receiving the recessive allele from his mother will express the trait. A
heterozygote female for a sex-linked disorder will show a normal phenotype but as she
is carrying the recessive allele is called a carrier. Some sex-linked (X-linked) disorders
are the following:
Colour blindness (daltonism) is a mild disorder due to a recessive allele (d), where
the person with the disorder can not distinguish red from green. The dominant allele
(D) determines normal vision. The different genotypes and corresponding phenotypes
possibilities are: XDXD (normal female); XDXd (normal female but carrier of the
disorder); XdXd (colour blind female); XDY (normal male) and XdY (colour blind male).
Hemophilia is a sex-linked recessive trait where the dominant (H) allele determines a
protein required for blood clotting. The recessive allele (h) determines hemophilia; the
most seriously afflicted individuals may bleed to death after relatively minor cuts, etc.
XHXH (normal female); XHXh (normal but carrier female); X hXh (hemophiliac female); XHY
(normal male) and XhY (hemophiliac male).

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