SCIENCE

BASIC PRINCIPLES OF GENETICS

DEFINITION
Genetics is the scientific study of heredity and the variation of inherited
characteristics. It includes the study of genes, themselves, how they
function, interact, and produce the visible and measurable characteristics we
see in individuals and populations of species as they change from one
generation to the next, over time, and in different environments.
Basic Principles of Genetics Part 1

Terminologies
HAPLOID GAMETE
the condition of having only one set of a haploid (n) sex cell in plants and animals
chromosomes per cell (n) (egg or sperm)

DIPLOID ZYGOTE
the condition of having two sets of diploid (2n) cell resulting from the union of
chromosomes per cell (2n) two gametes in sexual reproduction

CHROMATIN
the complex of DNA, RNA and proteins that
makes up uncondensed eukaryotic
chromosomes
CHROMOSOME
structure within the nucleus of eukaryotic
cells composed of chromatin and visible at
cell division (condensed chromatin)
HOMOLOGOUS CHROMOSOMES
chromosomes that are similar in morphology
(shape and form) and genetic constitution. In
animals one set comes from the father and
the other from the mother
CHROMATID
one of the two halves of a duplicated
chromosome
CENTROMERE
specialized constricted region of a
chromatid, that contains the kinetochore;
sister chromatids are joined at the
centromere during cell division
CHROMATIN
the complex of DNA, RNA and proteins that
makes up uncondensed eukaryotic
chromosomes
RECOMBINATION SYNAPSIS
exchange of genetic material between the pairing of homologous chromosomes
chromosomes during prophase I of meiosis

CROSSOVER DISJUNCTION
the breaking and rejoining of homologous separation of homologous chromosomes (or
(non-sister) chromatids during early prophase sister chromatids) during anaphase
I of meiosis, resulting in recombination

GENE
a discrete unit of hereditary information that
usually specifies a protein; a region of DNA
(locus) located on a chromosome that
specifies a trait (characteristic)
ALLELES PHENOTYPE
the physical or chemical expression of an
genes governing variations of the same
organism's genes
characteristic (trait) that occupy
corresponding positions (loci) on
homologous chromosomes; alternative GENOTYPE
forms of a gene the genetic make-up (the assemblage of
alleles) of an individual

DOMINANT ALLELE RECESSIVE ALLELE

an allele that is always expressed when an allele that is only expressed when the
present, regardless of whether the organism organism is homozygous for that allele and
is homozygous or heterozygous for that gene not expressed when heterozygous (when
paired with a dominant allele)
HOMOZYGOUS CARRIER
possessing a pair of identical alleles for a a heterozygous individual not expressing a
particular locus (gene) recessive trait but capable of passing it on to
its offspring

HETEROZYGOUS PARENT GENERATION (P)

possessing a pair of unlike alleles for a the generation that supplies gametes to the
particular locus (gene) filial generation

FILIAL GENERATION (Fn)

the generation that receives gametes from
the parental generation
DIHYBRID CROSS HYBRID
a genetic cross that takes into account the an offspring resulting from the mating
effect of alleles at two separate loci (two between individuals of two different genetic
different genes) constitutions

LOCUS
MONOHYBRID CROSS A specific position along a chromosome
a genetic cross that takes into account the
effect of alleles at a single locus (single
gene)
Basic Principles of Genetics Part 2

Mendelian Genetics
Gregor Johann Mendell (1822-1884)

Gregor Mendel was an He was the first scientist

Austrian monk who to observe that
discovered the basic characteristics were
principles of heredity inherited as separate
through experiments in his units (genes), each of
garden. which was inherited
independently of the
others.

Mendel's observations became the foundation of modern genetics and the study
of heredity, and he is widely considered a pioneer in the field of genetics.
MENDELIAN INHERITANCE
Mendel suggested that each parent has pairs genes but contributes only one of each pair
to offspring.

He recognized that a gene can exist in different forms (alleles), and he concluded that
when an organism has two different alleles, one of the two may be dominant
(represented by a CAPITAL letter) and the other is said to be recessive (represented by a
small letter).

Mendel also demonstrated that the patterns of inheritance observed in his experiments
with single traits also apply to cases involving more complex gene combinations.
Mendelian Genetics Part 1

Mendel's First Law

Character Traits Exist in Pairs that Segregate at Meiosis
A single trait could exist in different versions, or alleles
For example: Seven traits Mendel studied in peas

Two allelic forms of a gene

for seed color were found:
one allele gave green seeds,
and the other gave yellow
seeds.

Although different alleles

could influence a single trait,
they remained indivisible and
could be inherited separately.
 This is the basis of
Mendel's First Law, also called...

The Law of Equal Segregation

During gamete formation, the two alleles at a
gene locus segregate from each other; each
gamete has an equal probability of containing
either allele.
 The Law of Equal Segregation

3 pairs of
chromosomes

possible gametes

The 2 copies of each gene separate and end up in different gametes.

 Hetero-, Homo-, Hemizygosity
Diploid cells contain two different alleles of each gene, with one allele on each member
of a pair of homologous chromosomes.

If both alleles are If the alleles are different

identical, the individual is from each other, the
homozygous genotype is heterozygous

In cases where there is only one copy of a gene present, for example if there is a deletion
on the homologous chromosome, we use the term hemizygous.
PUNNET SQUARE
A Punnett square can be used to predict genotypes (allele combinations) and phenotypes
(observable traits) of offspring from genetic crosses.

Example: In pea plants, round seeds are dominant over wrinkled

seeds. You cross one heterozygous seed with a homozygous
recessive seed. What is the probability of having a round seed as a
result of the cross?
How to Make a
Punnett Square
Step 1: Identify the genotypes that are being crossed

heterozygous seed vs homozygous recessive seed

Rr x rr
Note: homozygous recessive parents are symbolized with two
lowercase letters (for example, aa). Homozygous dominant parents
can be symbolized with two capital letters (AA). A heterozygous parent
would be symbolized with one capital and one lowercase letter (Aa).

As indicated in the example, a heterozygous seed is crossed with a homozygous recessive seed. R
can be used to symbolize the dominant allele and r can symbolize the recessive allele. So, Rr is
being crossed with with rr.
Step 2: Draw a Punnett square

The Punnett square is a large square divided into 4 boxes.

It is important to set aside space on the top and left side of

the Punnett square to be used in a later step.
Step 3: Label the Punnett square
R r

To label the Punnett square, assign each parental genotype a side of the
square (one on top and one on the left side). Each allele of each
parental genotype needs to be placed either above or beside a box
depending on which side you have chosen for its particular parent.

For the sample problem, place the heterozygous parent on top and the homozygous recessive
plant on the left. The top boxes will be labeled as R and r. The side boxes will be labeled as r and r.
Step 4: Determine possible offspring by filling in the Punnett Square

R r

r Rr rr

r Rr rr

Start in the first box. Look at the letter to its left, and the letter above it. Write
both these letters in the empty box. Repeat for the remaining three boxes.

If you end up with both type of allele, it's customary to write the dominant allele
first (write Rr, not rR).
Step 5: Determine the possible phenotypes of the offspring

Two have round seeds (Rr) and the other two have wrinkled seeds (rr)

R r
r Rr rr When doing simple Punnett squares, there are 3 possible outcomes
for offspring: heterozygous, homozygous dominant, and
homozygous recessive. By looking at these outcomes, determine
the phenotypes. Heterozygous and homozygous dominant
r Rr rr offspring will both exhibit the dominant phenotype. Homozygous
recessive offspring will exhibit the recessive phenotype.

The resulting Punnett square for the example has two boxes with Rr and two with
rr. Since round seeds are dominant to wrinkled seeds, the heterozygous offspring
will have round seeds while the homozygous recessive will have wrinkled seeds.
Thus, only two possible phenotypes have resulted from this cross:
round or wrinkled.
Step 5: Answer question asked

2 round seeds : 2 wrinkled seeds

Therefore, there is a 50% chance of having a

round seed as an offspring.
 Mendelian Genetics Part 2

The Law of Independent

Assortment
The Law of Independent
Assortment

Mendel's law of independent assortment states that the alleles of

two (or more) different genes get sorted into gametes independently
of one another. In other words, the allele a gamete receives for one
gene does not influence the allele received for another gene.
 Imagine that we cross two pure-
breeding pea plants: one with yellow,
round seeds (YYRR) and one with green,
wrinkled seeds (yyrr).

Because each parent is homozygous,

the law of segregation tells us that the
gametes made by the wrinkled, green
plant all are ry, and the gametes made
by the round, yellow plant are all RY.

That gives us F1 offspring that are

all RrYy.
The allele specifying yellow seed color is
dominant to the allele specifying green
seed color, and the allele specifying
round shape is dominant to the allele
specifying wrinkled shape, as shown by
the capital and lower-case letters.

This means that the F1 (YyRr) plants

are all yellow and round.

Because they are heterozygous for two

genes, the F1 plants are
called dihybrids (di- = two, -hybrid =
heterozygous).
 A cross between two
dihybrids is known as...

DIHYBRID CROSS
When Mendel did this cross and looked at the offspring, he found
that there were 4 different categories of pea seeds: yellow and
round, yellow and wrinkled, green and round, and green and
wrinkled. These  phenotypic  categories (categories defined by
observable traits) appeared in a ratio of approximately...

9:3:3:1
Mendelian Genetics Part 3
The Law of Dominance
 The Law of Dominance states that...

...in a heterozygote, one trait will conceal the presence of another trait
for the same characteristic. Rather than both alleles contributing to a
phenotype, the dominant allele will be expressed exclusively. The
recessive allele will remain “latent,” but will be transmitted to offspring
by the same manner in which the dominant allele is transmitted. The
recessive trait will only be expressed by offspring that have two copies
of this allele; these offspring will breed true when self-crossed.
COMPLETE DOMINANCE
Example: flower color in Mendel's peas where one allele as a homozygote (AA) produces
purple flowers, while the other allele as a homozygote (aa) produces white flowers

Individuals heterozygous (Aa) for the

purple and white alleles of the flower
color gene have purple flowers

Thus, the allele associated with purple color is therefore said to be dominant to
the allele that produces the white color. The white allele, whose phenotype is
masked by the purple allele in a heterozygote, is recessive to the purple allele.
The Law of Dominance:
Key Points
Dominant alleles are expressed exclusively in a heterozygote, while
recessive traits are expressed only if the organism is homozygous for the
recessive allele.

A single allele may be dominant over one allele, but recessive to another.

Not all traits are controlled by simple dominance as a form of inheritance;

more complex forms of inheritance have been found to exist.
 Basic Principles of Genetics Part 3

Non-Mendelian Genetics
INCOMPLETE DOMINANCE
Example: Relationship between genotype and phenotype for incompletely dominant
alleles affecting petal color in carnations

Plants with an allele for red petals (A1) and an allele

for white petals (A2) have pink petals. We say that
the A1 and the A2 alleles show incomplete
dominance because neither allele is completely
dominant over the other.

Both alleles affect the trait additively, and the phenotype of the heterozygote is
intermediate between either of the homozygotes.
CO-DOMINANCE
Example: ABO blood group in humans. The ABO gene has 3 common alleles which were named
 IA, IB, and i. People homozygous for IA or IB display only A or B type antigens, respectively, on
the surface of their blood cells, and therefore have either type A or type B blood.

Heterozygous IAIB individuals have both A and B antigens

on their cells, and so have type AB blood. Notice that the
heterozygote expresses both alleles simultaneously, and
is not some kind of novel intermediate between A and B.

The third allele, i, does not make either antigen and is recessive to the other
alleles. IA/i or IB/i individuals display A or B antigens respectively. People
homozygous for the i allele have type O blood.
CO-DOMINANCE
Example: Roan fur in cattle

Co-dominant alleles show their

effects together. No allele or gene is
dominant over other allele or gene,
and no allele masked its effect under
another allele.
POLYGENIC TRAITS
Polygenic traits are traits that are controlled by multiple genes instead of just one. The genes that
control them may be located near each other or even on separate chromosomes.

examples: height, skin color, eye color, hair color

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