BASIC CONCEPTS OF GENETICS

HEREDITY
▪ It refers to the genetic heritage passed down by our
biological parents.
• It is the transmission of traits from one generation to the
next. • These traits can be physical, such as eye color, blood
type or a disease, or behavioral.

GREGOR JOHANN MENDEL (1822-1884)

• He was known as “father of genetics” who formulated laws of
inheritance by experimenting garden pea.
• Mendel tracked the segregation of parental genes and their
appearance in the offspring as dominant or recessive traits.
• The genetic experiments Mendel did with pea plants took
him eight years (1856-1863) and he published his results in
1865. During this time, Mendel grew over 10,000 pea plants,
keeping track of progeny number and type.
 MENDEL’S LAW OF HEREDITY

Gregor Mendel recognized the mathematical patterns of inheritance

from one generation to the next.

•THE LAW OF SEGREGATION

• Each inherited trait is defined by a gene pair. Parental genes are
randomly separated to the sex cells so that sex cells contain only one
gene of the pair. Offspring therefore inherit one genetic allele from
each parent when sex cells unite in fertilization.

THE LAW OF INDEPENDENT ASSORTMENT

• Genes for different traits are sorted separately from one another so
that the inheritance of one trait is not dependent on the inheritance of
another.

THE LAW OF DOMINANCE

• An organism with alternate forms of a gene will express the form
that is dominant.
 “GENES COME IN PAIRS”

• To follow the inheritance of genes from parent to child, Mendel first

needed to be sure which genes each parent carried.
• Since pea plants are naturally self-fertilizing, "pure-bred" strains were
readily available. Each strain contained only one form of the gene that
determined a trait.
• Pure-bred plants with yellow seeds only produced offspring with
yellow seeds. Pure-bred plants with green seeds only produced
offspring with green seeds.
• From the results of further experiments, Mendel reasoned that pure-
bred plants must have two copies of the same gene for each trait
• He realized that each plant must have two traits, one inherited from
each parent (Mawer 2006). By crossing Aa with Aa we would achieve
three different variations: AA (25%) , Aa (50%), and aa (25%).
• Mendel also reasoned that in order for such crossing to occur, the
pairs of traits (later called alleles) would need to separate from each
other and be recombined during fertilization in order to make new
combinations, a principle he called the law of segregation.
PUNNETT SQUARE

• This diagram, called a Punnett square, shows what

happened when Mendel crossed his purple pea
plants. Since the parents had the alleles for the
dominant and the recessive traits, approximately
one-fourth of their offspring showed the recessive
white flower trait.
• Reginald C. Punnett, is the one who devised the
approach in 1905.
• The Punnett square is a tabular summary of
possible combinations of maternal alleles with
paternal alleles.
• Alleles are designated by letters to describe
genotypes.
• The purple color’s allele (referred to as P) can
naturally express the purple pigment while the
white color allele (referred to as p) cannot. Hence,
the resulting genotype is written as Pp.
• Other genotypes that can be found for this trait
are PP (Purple flower) and pp (white flower).
However, one P allele can produce enough pigment
to make the flower purple color in this particular
example.
• Therefore, plants with either PP or Pp genotypes
will have purple flowers, and only plants with the pp
genotype have white flowers.
 DIFFERENCE BETWEEN MONOHYBRID
AND DIHYBRID CROSS

MONOHYBRID CROSS
▪MATTHIAS SCHLEIDEN
▪THEODOR SCHWANN
▪RUDOLF VIRCHOW
• “THE CELL IS THE FUNDAMENTAL UNIT OF
STRUCTURE AND FUNCTION IN ALL LIVING
ORGANISMS”.

DIHYBRID CROSS
• It is a cross happens in F1 generation offspring of
differing in two traits. It is used to create a specimen
with desirable traits. It is useful in studying the
assortment of the offspring
PUNNETT SQUARE: MONOHYBRID
CROSS
 PUNNETT SQUARE: DIHYBRID CROSS

• When Mendel did this cross and looked at the

offspring, he found that there were four different
categories of pea seeds: yellow and round, yellow and
wrinkled, green and round, and green and wrinkled.
• These phenotypic categories appeared in a ratio of
approximately 9:3:3:1
 DIHYBRID CROSS

• To make the square, we first put the four equally

probable gamete types along each axis. (YR, yR, Yr, yr )
• Then, we join gametes on the axes in the boxes of the
chart, representing fertilization events.
• The 16 equal-probability fertilization events that can
occur among the gametes are shown in the 16 boxes.
 DIHYBRID CROSS

• Suppose you cross a black-coated dog with blue eyes (Ffbb)

to a white-coated dog with brown eyes (ffBb).
• If coat color and color of the eyes are controlled by two
genes that assort independently,
• a.) What is the probability that the puppy will have black fur
and brown eyes?
• b.) What is the probability that the puppy will have white fur
and blue eyes?
• C. What is the probability that the puppy will have
homozygous dominant in one trait?
• D. heterozygous in both traits?
• E. calculate the genotype and phenotype ratio.
 DIHYBRID CROSS

a.) What is the probability that the puppy will have black fur
and brown eyes?
Black fur with brown eyes: 4/16 = ¼ = 0.25 or 25%

b.) What is the probability that the puppy will have white fur
and blue eyes? white fur with blue eyes: 4/16 = ¼ = 0.25 = 25%
 DIHYBRID CROSS

C. What is the probability that the puppy will have

homozygous dominant in one trait?
FF
BB
= 0%

D. heterozygous in both traits?

Ff
Bb
= 25%
 DIHYBRID CROSS

e. Calculate the genotype and phenotype ratio.

FfBb= 4
ffBb= 4
Ffbb=4
Ffbb= 4
4:4:4:4 or 1:1:1:1
Black fur/ Brown eyes: 4
White fur/ brown eyes: 4
Black fur and blue eyes: 4
White fur/ blue eyes: 4
 PEDIGREE

• It is a family tree or chart made of symbols and lines that

represent a patient's genetic family history.
• It is a visual tool for documenting biological relationships in
families and the presence of diseases.

PEDIGREE ANALYSIS
• Pedigree analysis is an assessment made by a medical
professional about genetic risk in a family. • It can help identify
a genetic condition running through a family, aids in making a
diagnosis, and aids in determining who in the family is at risk
for genetic conditions.
• The first affected family member who seeks medical
attention for a genetic disorder is called Proband.
 AUTOSOMAL DOMINANT
INHERITANCE
• A parent with an autosomal dominant condition has a 50% chance of having a child
with the condition. This is true for each pregnancy.
• It means that each child's risk for the disease does not depend on whether their
sibling has the disease.
• It is often called vertical inheritance because of the transmission from parent to
offspring.
• The proportion of affected males should be equal to those of affected females.
• The parents of those who were diagnosed with autosomal dominant disease should
also be tested for the abnormal gene.
 AUTOSOMAL RECESSIVE
INHERITANCE
• It means two copies of an abnormal gene must be present in order for the disease
or trait to develop.
• One gene from the mother and father must be present to have this kind of
inheritance.
• Recessive inheritance means both genes in a pair must be abnormal to cause disease.
• People with only one defective gene in the pair are called carriers.
• These people are most often not affected with the condition. However, they can pass
the abnormal gene to their children.

• The proportion of affected males should be equal to the proportion of affected

females in a given population.
• Examples include sickle cell anemia and cystic fibrosis.
• A child born to a couple who both carry the gene (but do not have signs of disease),
the expected outcome for each pregnancy is:
➢A 25% chance that the child is born with two normal genes (normal)
➢A 50% chance that the child is born with one normal and one abnormal gene (carrier,
without disease)
➢A 25% chance that the child is born with two abnormal genes (at risk for the disease)
 X-LINKED DOMINANT

• The inheritance of a trait by the presence of a single gene

on the X chromosome in a male or female.
• If a male inherits a changed X chromosome then this would
be enough to cause the condition because males only have
one X chromosome.
• An affected female has a 50% (1 in 2) chance of having
affected children. An affected male will have all daughters
affected but all sons will be unaffected.
✓ no male-to-male transmission
• Females may experience less severe symptoms of the
disorder than males.
 X LINKED RECESSIVE INHERITANCE

• Two copies of a disease allele on the X chromosome are

required for an individual with two X chromosomes to be
affected with an X-linked recessive disease.
• Since males are hemizygous (have a single X chromosome)
for X-linked genes, any male with one copy of an X-linked
recessive disease allele is affected.
• The female is usually a healthy carrier of the X linked
condition.
• A carrier means you do not have the condition, but carry a
changed copy of the gene.
• Some examples include hemophilia, Duchenne muscular
dystrophy and fragile X.
 HOW X LINKED RECESSIVE
CONDITIONS ARE PASSED ON BY
FEMALE CARRIERS
 HOW X LINKED RECESSIVE
CONDITIONS ARE PASSED ON BY
AFFECTED MALES
 THE FOLLOWING INFORMATION
MUST BE INCLUDED ON THE
PEDIGREE

• First name or initials of relatives • Affected status (i.e. who in

the family has disease) for each individual in the family
• Age of all family members, or age at death
• Whether individuals are living or deceased. The Cause of
death, if known, should be indicated below the symbol.
• Residence for all family members (City, State)
• Willingness to participate in the study (indicate with an
asterisk)
• Key to shading of symbols
• Adoption status
• Consanguinity (i.e. parents are related)
• Race and ethnicity
• Date pedigree obtained
 BASIC PEDIGREE SYMBOLS

✓Living Unaffected female: Clear circle

✓Living Unaffected male: Clear square

✓Unknown gender (during pregnancy): Clear diamond

 BASIC PEDIGREE SYMBOLS

Pregnancy symbols
• Use a diamond if the gender is not yet known, a circle or a
square if the gender is known.
• A triangle is used for any pregnancy not carried to term.
• Include gestational age, or estimated date of delivery (EDD)
for all pregnancies.
• Pregnancy (P), Stillbirth (SB), Spontaneous abortion (SAB),
Termination of pregnancy (TOP), Ectopic pregnancy (ECT).
 BASIC PEDIGREE SYMBOLS

• Living Affected female: Black circle

• Living Affected male: Black square

• Adoption, place brackets around the adopted individual.

▪ A dashed offspring line indicates the individual was
adopted into the family, and a solid line indicates the
individual was adopted out of the family.
 BASIC PEDIGREE SYMBOLS

• Deceased: symbol with a diagonal line

• Individual with multiple diagnoses

• Offspring Line: Vertical line from the center of the mating line
to the center of the offspring symbol or to the sibling line.
 BASIC PEDIGREE SYMBOLS

• Children from a previous partner (stepchildren).

• Mike and Jane have one son, and Jane has a daughter from a
previous marriage.

• Sibling Line: Horizontal line above the offspring and

connected by vertical lines. Example: brother and sister
siblings.
• Brother and sister siblings with two parents
 BASIC PEDIGREE SYMBOLS

• No children: A vertical line with 2 hash marks at the end.

Indicate if an adult does not have children by choice (c),
infertility (i).

• Dizygotic Twins (non-identical) : Indicated by two diagonal

vertical lines originating from the same point.

• Monozygotic twins (identical): Indicated by two diagonal

vertical lines originating from the same point.
 GENERAL GUIDELINES WHEN
DRAWING A PEDIGREE

• It is helpful to start in the middle of the page when drawing a

pedigree.
• Male partners are to the left of female partners.
• Siblings are drawn from oldest to youngest with the oldest
listed on the left and the youngest on the right.
• If there are multiple disorders or diseases, use quadrants or
different shading (solid, crosshatching) to indicate each
disease.
GENERAL GUIDELINES WHEN
DRAWING A PEDIGREE