NATIONAL DIPLOMA IN SCIENCE

LABORATORY TECHNOLOGY ND 2

COURSE: GENETICS: STB 221

BY DR. NICHOLAS O. OSAGIEDE

I. INTRODUCTION- Genetics is the scientific study of inherited variation. Human

genetics is the scientific study of inherited human variation. This field has been energized
in recent years by the Human Genome Project. Scientists expect that the project will lead to
the development of new drugs targeted to specific genetic disorders. Increasingly, modern
genetics involves genetic engineering; a technique used to manipulate genes and has
produced many advances in medicine.
II. PRINCIPLES OF GENETICS
A. Cell is the site where genes work. Each cell’s function within an organism is
determined by the genetic information encoded in DNA. In eukaryotes (organisms
whose cells contain a nucleus), DNA resides within membrane-bound structures in
the cell (nucleus, mitochondria, and chloroplasts in plants). In prokaryotes (one-
celled organisms that lack internal membrane bound structures), DNA floats freely
within the cell body. DNA is packaged into structures called chromosomes within a
cell. Every chromosome in a cell contains many genes, and each gene is located at a
particular site, or locus, on the chromosome. Chromosomes usually occur in
matched pairs called homologues. The number of homologous chromosomes in the

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 human body contain 23 pairs of chromosomes i.e. equals to 46 chromosomes in the
human body. Twenty-two (22) pairs, called the autosomes, and are numbered from
1- 22. The 23rd chromosome pair is called the Sex chromosome, this chromosome
pair consists of two X chromosomes in women (XX), and men (XY) have one X plus
one Y chromosomes.

Normal Human Male Karyotype: 46, XY Normal Human Female Karyotype: 46, XX

B. Inheritance: Definitions
 Inheritance is the transmission of genetic information from one generation to the
next generation.
 A gene is a short length of DNA found on a chromosome that codes for a particu-
lar characteristic (expressed by the formation of different proteins).
 Alleles are variations of the same gene e.g. TT, Tt, BB, Bb etc.
o As we have two copies of each chromosome, we have two copies of each gene
and therefore two alleles for each gene
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 o One of the alleles is inherited from the mother and the other from the father
o This means that the alleles do not have to ‘say’ the same thing
o For example, an individual has two copies of the gene for eye colour but one
allele could code for brown eyes and one allele could code for blue eyes
 The observable characteristics of an organism (seen just by looking - like eye colour, or
found – like blood type) is called the phenotype. The combination of alleles that con-
trol each characteristic is called the genotype.
o An individual could be homozygous dominant (having two copies of the
dominant allele TT or BB), or homozygous recessive tt or bb (having two
copies of the recessive allele) e.g. tt and bb.

o Variation refers to observable differences that are seen in organisms

of the same species or differences between organisms. Species refers to
a group of organisms t h a t a r e a b l e t o f r e e l y a n d n a t u r a l l y
i n t e r b r e e d t o g i v e r i s e t o a v i a b l e offspring. The offspring
show slight differences from t h e i r p a r e n t s . F o r e x a m p l e , i n h u -
m a n beings, members of the same family differ in shape of nose, skin col-
our and height. Also, variations in human beings are shown in tongue
rolling, fingerprints, height, and type of earlobes (attached or free),
sex, blood groups, skin colour, and weight. In plants variations are observed
in length of leaves and internodes and size of fruits.

o Types of variation. a) Discontinuous variation. b) Continuous variation.

o A. Discontinuous variation -This is a type of variation where there is a d i s -

t i n c t / d e f i n i t e d i f f e r e n c e i n a g i v e n characteristic/ without inter-
mediates. I t i s c o n t r o l l e d b y g e n e s a n d t h e environ-
ment has no effect. Examples include: 1. Ability to roll the tongue. 2.Sex i.e.
male or female. 3. A B O B l o o d g r o u p s / A B O b l o o d g r o u p system.
4.P r e s e n c e o f h a i r i n t h e n o s e o r e a r pinna. 5.Fingerprints. 6.
Free or attached earlobes. 7.Wing length, size of abdomen, eye colour in dro-
sophila melanogaster. 8.Smooth/wrinkled seed coat, green/yellow colour in
garden peas. 9.M e l a n i c / l i g h t f o r m s i n m o t h s .

o B . Continuous variation. T h i s i s a t y p e o f v a r i a t i o n w h i c h
shows a wide range of differences for the same characteristic/trait
from one extreme end to the other with intermediates. It is controlle d
by both genes and environment. Examples include: 1. Height. 2.Weight.
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 3.Stem diameter. 4.Skin colour in humans. 5.Size of seeds and fruits. 6.Length
of fingers in humans. 7.Milk yield in cows. 8.Length of leaves.

o C. Mutations • Any alteration in the structure of a gene results in a muta-

tion. • Most mutations harm an organism and the implications can be signific-
ant. Mutations can occur spontaneously, or can be caused by exposure to phys-
ical or chemical agents in the environment called mutagens. Common muta-
gens include ultraviolet rays and various chemicals, such as nitrous acid
and high-energy radiation (such as X rays) which cause damage and disrupt-
ing the function of many genes. Note: The cell has highly effective self-repair
mechanisms that can correct the harmful changes made by mutations.

Types of Mutations
i. In Substitution (point mutation), a single nucleotide replaces another nucleotide
e.g. Happens in SS haemoglobin genotype or Sickle cell anaemia of humans.
Note: Read more on mutations of human haemoglobin genotype.

Sequence for normal adult haemoglobin (AA haemoglobin genotype)

Sequence for mutant or

abnormal adult haemoglobin (SS haemoglobin genotype)

ii. Deletion (subtracting) or iii. Insertion (Adding) of a single base (AUC) from a
normal sequence can disrupt translation by shifting the “reading frame” of every
subsequent codon.

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III. MENDELIAN INHERITANCE: Sir Gregor Johann Mendel (1822 to 1884) was
Austrian monk who used garden pea (Pisum sativum) for his experiments and
published his results in 1865. Mendel recognized that a gene can exist in different forms
called Alleles, and he concluded that when an organism has two different alleles, one of the
two may be Dominant (represented by a CAPITAL letter like T=Tallness, B=Dark colour)
and the other is said to be Recessive (represented by a small letter like t=shortness, b=Light
colour). B u t s i n c e M e n d e l w a s t h e f i r s t t o suggest principle sunder lying
i nhe ri t a nce he is regarded as the founder or father of genetics. Mendel's experiments
He used garden peas because: I. They mature faster. ii.They naturally self-pollinate but
can also be cross pollinated. iii.They produce many seeds. iv. Have sharply contrasting
characteristics e.g. height- tall and short; seed colour-white or purple; s h a p e o f
s e e d c o a t - s m o o t h o r wrinkled; colour of pods-green or yellow

A. Mendel’s Laws:
1. Law of segregation of gene: states that alleles brought together in the F1 generation can be
segregated in the F2 generation. e.g. Red flowered(RR) and white flowered(rr) crossing
plants. Also, it states that the characteristics of an organism are controlled by genes
which o c c u r i n p a i r s a n d o n l y o n e o f t h o s e genes is contained in a gamete. This is
because during gamete f o r m a t i o n i n m e i o s i s I , h o m o l o g o u s chromosomes
separate and alleles on t h e d i f f e r e n t c h r o m o s o m e s g o i n t o different gametes.
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In h e r i t a n c e o f o n l y o n e t y p e o f characteristic/trait is called Monohybrid
inheritance. It involves the transfer of one pair of contrasting characteristics e.g. tallness
(Tt or TT) and shortness (tt).

Note: PUNNET SQUARE/ CHECKERBOARD. This is the alternative method of making

genetic crosses. It was devised by Professor Punnet. Done by use of
a square where fertilization is shown.

T h e r e s u l t s o f m o n o h y b r i d inheritance have been obtained by using a

common insect, fruit f l y (Drosophila melanogaster). It has many observable
characteristics that show discontinuous variations e.g. I. Wing length e.g. long wing trait
dominant over vestigial wing trait. ii.Eye colour e.g. red eye trait dominant over white
eye trait. iii.Size of abdomen e.g. broad abdomen dominant over narrow abdomen
trait. iv. B o d y c o l o u r e . g . g r e y b o d y c o l o u r dominant over black body colour.
Example A genetic cross between purebred long winged and vestigial winged flies results
in all F1 offspring long winged. W h e n F 1 o f f s p r i n g a r e s e l f - p a i r e d o r
c r o s s e d , F 2 offspring will have a mixture of long winged and vestigial winged
in the ratio of 3 long winged and 1 vestigial winged . Reasons why fruit fl y
a re suitable.
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2. Law of Independent Assortment of genes: states that most of the characters of parents
can appear in any combination in their offspring e.g. Tallness-T and Dark Skin Colour-B or
shortness-t and light skin colour-b. Also, Principle of Independent Assortment of genes:
Genes for different traits assort independently of one another in gamete production, what it
means is that different genes are inherited separately this is also called Dihybrid. For
example, the gene which codes for eye colour is inherited separately from the gene which
codes for nose shape. See an example below for Pea plant seed, capital SS represents

smooth skin seeds while capital YY represent yellow skin seeds. Also, small letter ss
represents rough skin seed while the small capital yy represents green coloured skin seed.
B. Mendel’s Laws: Exceptions to Mendel’s Rules: The genetic principles that Mendel first
discovered in plants apply to humans as well, but sometimes genes do not easily conform to
the so called Mendelian patterns of inheritance.
B1. Incomplete Dominance- In cases of incomplete dominance, the inheritance of a
dominant and a recessive allele results in production of intermediate characteristics. For
example, four-o’clock paint plants may have red, white, or pink flowers. Plants with red
flowers have two copies of the dominant allele R for red flower colour (RR). Plants with

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white flowers have two copies of the recessive allele r for white flower colour (rr). Pink
flowers result in plants with one copy of each allele (Rr).

B2. Quantitative Inheritance -Traits such as skin colour differ from the ones Mendel
studied because they are determined by more than one pair of genes. In this form of
inheritance, known as quantitative inheritance, each pair of genes has only a slight effect on
the trait, while the cumulative effect of all the genes determines the physical characteristics of
the trait. At least four pairs of genes control human skin colour.

B3. Multiple Alleles: Certain traits are controlled by multiple alleles that have complex rules
of dominance. In humans, for example, the gene for blood type has three alleles: IA, IB,
and I, with three alternatives for each member of a gene pair, there are six possible
combinations of these genes (IAIA, IBIB, II, IAI, IBI, IAIB). Although there are six possible
combinations, humans have only four major blood types: A, B, AB, and O. This results
because both IA and IB dominate over I, but not over each other, so a person with a gene
combination of IAIA or IAI has blood type A. The gene combinations IBIB and IBI both
produce blood type B. IAIB results in a blood type AB, and II results in blood type O.

C. Sex-Linked Traits: Most chromosome pairs consist of identical (homologous) partners.

In humans, there is one pair of chromosomes in which the partners noticeably differ from
each other. These are called the sex chromosomes because they determine the differences
between males and females. In human females, the sex chromosomes consist of two X
chromosomes, while males have an X chromosome and a shorter Y chromosome with
many fewer genes. A male’s X chromosome may contain a recessive allele associated with
a genetic disorder, such as haemophilia and red-green colour blindness in humans. Males
do not have a normal second copy of the gene on the Y chromosome to mask the effects of
the recessive gene, and disease typically results in the above cases.

IV. GENES AND DISEASES: The bases for hereditary diseases are the changes in genes
which are passed on from one generation to the next via the germ line cells. • About 5% of
all new-born babies have inherited disorders which are the 5th most frequent cause of death.
• Most deaths result from inherited heart disorders followed by anomalies of the central

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nervous system as well as urogenital anomalies and gastrointestinal anomalies (digestive
organs).
GENETIC CHARACTERISTICS OF INHERITED DISEASES
1. Monogenic diseases: In monogenic diseases, only a single gene is altered (mutant) with
the consequence that the pattern for a specific protein is imperfect, which in turn leads to the
development (manifestation) of a disease. Monogenic diseases are often rare and cause
severe illnesses for example Sickle cell disease is an example of this.
2. Polygenic diseases: It is the interaction of several gene alterations (mutations) which leads
to the development of an illness. Polygenic diseases are very common in the population.
Examples of polygenic diseases are Short sightedness, Diabetes and High blood pressure.
3. Metabolic diseases are cystic fibrosis and phenylketonuria.
4. X chromosome inheritance (sex-linked inheritance): Women have two X chromosomes.
If they have a recessively acting mutated gene on one X chromosome, they are carriers for
the corresponding illness. Men have only one X chromosome, since the other sex
chromosome is a Y chromosome. If they have the mutated gene on the X chromosome, they
will develop the illness as a rule. If a woman is a carrier for the illness inherited by the X
chromosome, there is a 50% chance that she will pass on this illness to her son. Her daughters
have a 50% chance of becoming a carrier for this illness. Examples are Colour blindness -
an inability to distinguish between red and green and sometimes between blue and yellow, is
caused by a defect in one of the three colour sensitive cells in the retina.

5. Chromosome aberrations: - Klinefelter’s syndrome: 47, XXY, Edward's Syndrome

(Trisomy 18): 47, XY +18, Down’s syndrome (mongolism): 47, XY, +21 for male; or 47,
XX, +21 for female.

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Chromosome set for trisomy 21 (male) Klinefelter’s syndrome: 47, XXY.

Edward's Syndrome (Trisomy 18): 47, XY

+18.

V. Molecular genetic engineering or genetics testing (DNA and genome analysis) -This
provides evidence of a gene mutation responsible for producing the illness. Here it is
determined whether the sequence of the DNA bases (nucleotide sequence) has changed
within the affected gene. This is done as confirmation of preliminary clinical diagnoses.
Molecular genetics tests rely on revealing short segments of DNA sequence information
and make use of the complementary nature of the strands of DNA in order to do this. There
are different techniques available for revealing specific DNA double-stranded molecules
which are all variations of the same basic principle:
i. In DNA sequencing the units of a specific sequence are read off one after the other.
ii. In the polymerase chain reaction (PCR) one or several identical starting sequences are
used to generate so many copies that they can be seen with the naked eye.
iii. In the Southern blot procedure, a mixture of sequences is sorted electrophoretic ally
according to size before a specific sequence is made visible in an autoradiograph using, a
radioactively labelled probe. In the future, genetic parameters will replace many
conventional diagnostic investigative procedures as standard practice because of their
objectivity.
Below are Molecular genetic testing equipment’s

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 TERMS USED IN GENETICS
1.A gene-it is a structure/portion of a DNA or chromosome that controls heredity.
2.Genotype- i t i s t h e g e n e t i c constitution of an organism e.g. tt, TT,
Tt.
3.Phenotype- t h i s i s t h e p h y s i c a l appearance of an o r g a n i s m / o b s e r v a b l e
t r a i t o f a n organism.
4.Allele/ allelomorph -refers to the alternative form of the same gene that
controls the development of a pair of contrasting traits.
5.Homozygosity- r e f e r s t o a c o n d i t i o n where an individual has identical/similar
genes/alleles e.g.TT, tt.
6.Heterozygosity- t h i s i s a c o n d i t i o n w h e r e a n o r g a n i s m / i n d i v i d u a l
h a s different alleles.
7.Dominance-it is a condition where one allele/gene suppresses the expression of the other
e.g. in Tt, Tis dominant over t.

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8.Recessiveness-it is a condition where an allele does not express itself because of
dominance.
9.Crossing-refers to mating or pollinating two organisms.
10.F1generation/first filial generation- this is a first generation obtained after a cross.
11.F2 generation/2ndfilial generation-a generation obtained after crossing F1
generation. Crossing F2 generation will give F3 generation and so on.
12.Diploidy(2n)-this is a condition where a cell has two sets of chromosomes. The cells
in diploid forms are body/somatic cells.
13.Haploidy (n)-this is a condition where a cell has one set of chromosomes. The cells
in haploid forms are sex/reproductive cells.
14.Polyploidy- this a condition where a c e l l ha s m ore t ha n 2
sets of chromosomes triploid (3n), tetraploid (4n), pentaploid (5n) and so on.
15.Hybrid- refers to the offspring obtained after crossing two superior organisms.
16.H y b r i d v i g o u r - r e f e r s t o i n c r e a s e d performance of the offspring than the
parents due to crossing two superior parents.
17.MONOHYBRID INHERITANCE. T h i s is the inheritance of one
characteristic which is controlled by a pair of genes.

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