Medical Biology & Genetics

Introduction to Genetics
SUAL TATLISULU
 History
In the mid-1800s the revolutionary work of Charles Darwin and Gregor Mendel set the stage for the
rapid development of genetics in the twentieth and twenty-first centuries.
➢ Charles Darwin published his theory of evolution with compelling evidence in his 1859 book On the
Origin of Species. Darwin's theory of evolution had three main components: that variation occurred
randomly among members of a species; that an individual's traits could be inherited by its progeny;
and that the struggle for existence would allow only those with favorable traits to survive.
➢Shortly after Darwin published his book, Gregor Johann Mendel published a paper in 1866 showing
how traits were passed from generation to generation in pea plants and offering a general model of
how traits are inherited. Mendel's research is the foundation of genetics.
➢Ronald Fisher, an English statistician, finally united Mendelian genetics with natural selection, in his
1930 book The Genetical Theory of Natural Selection. He gave the theory a mathematical footing and
brought broad scientific consensus that natural selection was the basic mechanism of evolution.
Mendelian Genetics
The starting point for genetics was a monastery garden in central Europe in the late 1850s.
Gregor Mendel, an Augustinian monk, conducted a decadelong series of experiments using pea
plants. He applied quantitative data analysis to his results and showed that traits are passed
from parents to offspring in predictable ways.
He further concluded that each trait in the plant is controlled by a pair of factors (which we now
call genes) and that during gamete formation (the formation of egg cells and sperm), members
of a gene pair separate from each other.
Once confirmed, Mendel’s findings became recognized as explaining the transmission of traits in
pea plants and all other higher organisms. His work forms the foundation for genetics, which is
defined as the branch of biology concerned with the study of heredity and variation.
Mendel’s experiments
◼ Purebred
◼ Organism with same genetic info from parents
◼ Pea plants: self-fertilization or true breeding

(sperm and egg from same plant)

◼ Also called homozygous (GG or gg)
◼ Hybrid
◼ Organism with different forms of a genetic trait from each parent
◼ Pea plants: crossbreeding (sperm and egg from

different plant)
◼ Also called heterozygous (Gg)
Mendel’s Observation
➢ Started by crossing 2 different purebred plants (called parent or P generation) by cross-
pollination.
➢1 st generation of offspring (what he got from crossing two parent plants) called F1 generation.
➢All hybrid offspring only had the character of ONE of the parents (NO BLENDING!)
➢Allowed F1 plants to self-fertilize to produce F2 generation.

Generation Cross (pea colour) Results

P Yellow x Green All yellow
F1 Yellow x Yellow 3 Yellow, 1 Green
F2 Differs Differs
Mendel’s Observation
• Mendel had discovered the basis for the transmission of hereditary traits!

• Mendel followed seven visible

features, each represented by two
contrasting forms, or traits.

• Used 20,000 pea plants to study how

traits are passed from one generation
to the next
Genetics
Heredity -transmission of trait from one generation to next
Chromosomes
o Pairs of thread like bodies that contain genes
Deoxyribonucleic acid (DNA)
o Organic molecule arranged in a double-helix
o Contains the “code of life”
Gene
◼ Section of a chromosome that codes for a trait
◼ Allele
◼ Different form of a gene (usually two)
◼ Represented by a letter
◼ Ex. B- brown eyed allele, b- blue eyed allele
◼ Two alleles make up a gene
◼ Dominant
◼ Recessive
Gene (cont)
◼ Dominant allele
◼ Form of allele that is expressed (shown) when different alleles are present
◼ Always represented by a CAPITAL letter
◼ Ex. T- tall plant, P- purple flowers
◼ Recessive allele
◼ Not expressed when the dominant allele is present (only when both are
recessive)
◼ Always represented by lower case letter that is the SAME as the letter that
represents dominant allele
◼ Ex. t-short plant, p- white flowers
Genotype
◼ Genetic make-up of an organism
◼ Included both genes in a homologous pair of chromosomes
◼ In the form of LETTERS that represent genes
◼ Ex. Bb (brown eyes), PP (purple flowers)

Phenotype
◼ Outward expression of a trait
◼ In the form of WORDS that describe the trait
◼ Ex. Green eyes, button nose, green pea color
 Genotype Phenotype

Homozygous TT Tall (dominant)

Homozygous tt Short
(recessive)

Heterozygous Tt Tall (hybrid)

*Sometimes this
could be a mix of
two traits*
Example problem
◼ Ex. Flower colour
◼ Purple is dominant, white is recessive
◼ Use P for dominant, p for recessive
◼ Genotype for homozygous?
◼ PP OR pp

◼ Genotype for heterozygous?

◼ Pp

◼ Phenotype for homozygous?

◼ Purple or white
◼ Phenotype for heterozygous?
◼ Only purple
Mendel’s Laws
◼ Law of Segregation
◼ When individual produces gametes, the copies of a gene separate
so that each gamete receives only one copy
◼ Law of Independent Assortment
◼ Alleles of different genes assort independently of one another during
gamete formation
◼ Law of Dominance
◼ Some alleles are dominant and some are recessive
 Mendel’s Laws
◼ Law of Segregation
◼ Only one characteristic can be found in a gamete
◼ Ex. Blue eyes vs. brown eyes (can only have one of
them)
◼ Law of Independent Assortment
◼For two characteristics, the genes are inherited independently of one another
◼ Also called the "Inheritance Law“
◼ Ex. If you had the genotype AaBb you would make four kinds of gametes: they would contain the
combinations of either AB, Ab, aBor ab.
◼ Law of Dominance
◼ When an organism has two different alleles for a trait (is a hybrid or heterozygous), the allele that
is expressed is the dominant one
◼ Ex. Blue eyes vs. Brown eyes (Bb- brown is expressed therefore it is dominant)
One trait (monohybrid cross)
When studying the inheritance of only one trait, called a monohybrid cross
The Punnett square is a square diagram that is used to predict the genotypes of a particular
cross or breeding experiment.

Predictions for two traits (dihybrid cross)

Involves two separate traits

2 different letters will be used

➢ A monohybrid cross is a cross between first-generation offspring of parents who differ in
one trait while a dihybrid cross is a cross between first-generation offspring of parents who differ in
two traits.

Y: yellow y: green
R: round r: wrinkled
Other patterns of inheritance
◼ It’s not all as simple as I’ve made it out to be!
◼ Not all traits are completely dominant
◼ Several other patterns of inheritance
◼ Incomplete dominance
◼ Codominance
◼ Sex-linked
◼ Polygenic traits
◼ Multiple alleles
◼ Pleiotropy
Incomplete Dominance
◼ Pattern of inheritance in which heterozygous offspring show a
phenotype between the phenotypes of the parents (somewhere in
the middle)
◼ Neither allele expressed fully
◼ Ex. Flower color in snapdragons
◼ Red flower + white flower = pink flower
◼ Ex. Cow color
◼ Red (brown) bull + white cow = roan (pink) cow
Codominance
◼ Pattern of inheritance where both alleles in the heterozygous
offspring are fully expressed
◼ Ex. Human blood type
◼ Type = Phenotype, Letters = genotype
◼ Type A: AA, AO (homo and heterozygous)
◼ Type B: BB, BO (homo and heterozygous)
◼ Type AB: AB (Only heterozygous)
◼ Type O: OO (Only homozygous)
Sex-Linked Pattern of Inheritance
◼ Phenotypic expression of an allele that is dependent on the
gender of the individual
◼ Carried on either sex chromosome (X or Y)
◼ Remember: Men = XY, Woman = XX
◼ Many more genes carried on the X chromosome, so many more X-
linked traits than Y-linked traits
◼ Ex. Hemophilia, color-blindness
◼ If have one healthy X, it dominates over the infected X (in females)
◼ If have only one infected X, Y can’t dominate over it
Pleiotropy
Single gene affects more than one trait
Ex. Sickle cell disease, Marfan’s syndrome
Polygenic Traits
One trait controlled by two or more genes
Ex. Human skin colors
Multiple Alleles
More than two alleles for the same gene
Ex. Human blood type (phenotypes produced by 3 different alleles)
Pedigree
◼ Most knowledge of human genetics comes from studying patterns of heredity in
populations and families
◼ The best way to do this is by creating a pedigree
◼ Chart that shows how a trait and the genes that control it are passed through a family

◼ Circle = female
◼ Square = male
◼ Empty circle: doesn’t have trait (non- carrier)
◼ Half shaded: carrier of trait (heterozygous individual that carries a recessive trait but
doesn’t express it- not shown)
◼ Completely shaded: shows trait
British Royal Family- Haemophilia Pedigree
RECESSIVE TRAITS DOMINANT TRAITS

◼ Carrier’s not affected by recessive ◼ Always expressed in person’s genotype

trait ◼ Freckles, widow’s peak, brown eyes
◼ Can pass trait on to offspring
◼ Dominant diseases less common than
◼ In case of diseases, doesn’t have recessive because person usually
the disease but can give disease dies before passing on the trait
to their children
 Recessive traits Cystic Fibrosis
◼ Causes excessive secretion of
thick mucus (can’t break it down)
◼ Found mostly in Caucasian
community

Sickle Cell Anemia

Tay-Sachs
◼ Fatal genetic disorder
◼ Causes fat build-up in the
brain
◼ Found mostly in the
Jewish community
Albinism
◼ Causes red blood cells to form
◼ True albinos have no skin pigment
into sickle shape (half moon)
◼ Can’t produce melanin
◼ Can’t carry oxygen well
◼ Can affect people of all races
Dominant traits
Polydactyly
Huntington’s Disease
◼ Results in deterioration of
the nervous system
◼ Don’t usually develop
symptoms until 30’s or 40’s

Achondroplasia
◼ Extra fingers and/or toes
◼ Bone growth development disease
◼ Usually removed at birth
◼ Results in dwarfism
Molecular Genetic
• Molecular genetics is the study of the molecular structure of DNA, its cellular activities (including its
replication), and its influence in determining the overall makeup of an organism.
Genetic Material
➢Genetic material is the hereditary substance in the cell. It carries all information specific to an
organism.
➢For a molecule to serve as the genetic material, it must exhibit four crucial characteristics:
replication, storage of information, expression of information, and variation by mutation.
➢DNA (deoxyribonucleic acid) and RNA (ribonucleic acid)
➢Except in some viruses, DNA serves as the genetic material in all living organisms on Earth.
 Deoxyribonucleic acid (DNA)
➢One of the great discoveries of the twentieth century was made
in 1953 by James Watson and Francis Crick, who described the
structure of DNA.
➢DNA is a long, ladderlike macromolecule that twists to form a
double helix.
➢Each linear strand of the helix is made up of subunits called
nucleotides. Nucleotides are made of three parts: a phosphate
group, a sugar group and one of four types of nitrogen bases.
➢In DNA, there are four different nucleotides, each of which
contains a nitrogenous base, abbreviated A (adenine), G
(guanine), T (thymine), or C (cytosine). These four bases, in
various sequence combinations, ultimately encode genetic
information. The two strands of DNA are exact complements of
one another; A=T and G=C base pairs.
➢DNA's sugar is deoxyribose. It has five carbon atoms, which are
connected to each other to form what looks like a ring.
DEOXYRIBONUCLEIC ACID (DNA)
➢DNA contains the instructions needed for an organism to develop, survive and
reproduce. To carry out these functions, DNA sequences must be converted into
messages that can be used to produce proteins, which are the complex
molecules that do most of the work in our bodies.
➢DNA carries information needed for protein synthesis.
➢It controls the synthesis of enzyme-forming proteins and structural proteins.
Therefore, it is effective in every stage of the growth and cell metabolism.
➢DNA carries genetic information needed for forming of cell and cell
components.
➢ DNA carries this genetic information on structures which are called genes.
How much DNA is in one cell?
➢ Every cell in our body has the same DNA
➢Genome = 46 chromosomes
➢ Genome = approx. 3 billion base pairs
➢DNA sequence in any two people is 99.9% identical – only 0.1% is unique!
Ribonucleic Acid (RNA)
➢Another nucleic acid is RNA.
➢RNA is chemically similar to DNA but contains a different sugar (ribose rather than deoxyribose)
in its nucleotides and
➢contains the nitrogenous base uracil in place of thymine.
➢RNA, however, is generally a single-stranded molecule.
RNA types
There are three main types of RNA molecule found in cells:
➢ messenger RNA (mRNA),
➢acts as the carrier of genetic information from the DNA to the translational machinery and
➢Usually makes up less than 5% of total cellular RNA.
➢ribosomal RNA (rRNA), and
➢Ribosomal RNA is the most abundant class of RNA molecule
➢making up some 85% of total cellular RNA.
➢ It is associated with ribosomes, which are an essential part of the translational machinery.
➢ transfer RNA (tRNA).
➢Transfer RNAs make up about 10% of total RNA
➢provide the essential specificity that enables the insertion of the correct amino acid into the protein
that is being synthesised
Nucleotide
➢Adenine pairs with
thymine with 2
hydrogen bonds.
➢Guanine pairs with
cytosine with 3
hydrogen bonds.
 Central Dogma
(Expression of Genetic Information)
➢The initial event in this flow of information is the
transcription of DNA, in which three main types of
RNA molecules are synthesized: messenger RNA
(mRNA), transfer RNA (tRNA), and ribosomal RNA
(rRNA).
➢ Of these, mRNAs are translated into proteins, by
means of a process mediated by the tRNA and
rRNA.
➢Each mRNA is the product of a specific gene and
leads to the synthesis of a different protein.
➢In translation, the chemical information in mRNA
directs the construction of a chain of amino acids,
called a polypeptide, which then folds into a
protein.
➢Collectively, these processes serve as the
foundation for the central dogma.