HEREDITARY

INTRODUCTION TO GENETICS

Genetics

The study of hereditary. It deals with the

structure, function, distribution and variation
of genes.

Hereditary

The process of transmission of traits from

one generation to other or from parent to
offspring.
Trait

GENETIC TERMINOLOGIES • an inherited set of mental and bodily

characteristics.
1. Gene
a. Physical traits
2. Trait
b. Behavioral traits
3. Locus
• Control by the genes and
4. Allele environment.
5. Homozygous and heterozygous

6. Dominant, recessive and codominant

7. Genotype

8. Phenotype

Gene

• the physical and functional unit of

hereditary.

• Heritable (transmissible).
Locus (plural loci)
• A segment of DNA that codes for the
• the specific location of gene or DNA
production of a specific protein or
sequence on a chromosome.
trait.
• A fixed position.
• Located at the specific region of the
chromosome.
Allele Types of alleles

• Alternative form or variant of a gene. 1. Homozygous

• Each chromosome has a pair of 2. Heterozygous

genes that located at the same
3. Dominant
position.
4. Recessive
• Also called gene pair.
5. Codominant
• Inherited from father and mother.
Homozygous

• the allele pair is similar

• “PURE BREED” organism.

Heterozygous

• the allele pair is different

• “HYBRID” organism.

Allele or gene pair example

Trait Patern Matern Locus

al al

Eye Black Blue Chromoso

color me 7, p
arm
Dominant allele
Skin Dark Light Chromoso
color me 7, q • In a pair of alleles, one allele is fully
arm expressed in the phenotype while
the other is masked.
Heig Small Tall Chromoso • dominant allele is depicted in UPPER
ht me 10, p CASE letter.
arm
• e.g., A or B
Nose Flat Pointed Chromoso Recessive gene
shap me 15, q
e arm • this allele is completely masked or
hide in the phenotype.

• only expressed in phenotype when

Note: trait locus is not the actual location of inherited homozygous.
the trait. It only shows that an allele or gene
• depicted in lower case letter.
pair is located in the same position in a
chromosome. • E.g., a or b
Codominant gene Phenotype

• 2 alleles are both expressed in the • The expression of genotype that is

phenotype. observable.

• Depicted in both capital letters • The physical trait or appearance of

an individual.
• E.g., AB, CD, EF
• Influenced by genotype and
• In human ABO blood type and HLA
environment.
tissue type are example of co-
dominant genes

Blood type AB is an example of codominant

in human.

Summary

Allele Letter
depiction Mendelian genetics

Gregor Johann Mendel (1822-1884)

Dominant A, B, C,D….
• Austrian scientist an Augustinian
Recessive a, b, c, d… friar.

• Father of Modern Genetics.

Homozygous AA, BB, DD…
dominant • He studied the inheritance of trait on
pea plant, thus creating his Law of
Inheritance or the “Mendelian
Homozygous aa, bb, dd….
Inheritance”
recessive
Mendel’s Law of inheritance
Heterozygous Aa, Bb, Dd…
Law of Discrete Unit of Characters
Co-dominant AB, AC, CD, DR States that the genes are the basic unit of
hereditary specifically located in a
chromosome and are transferred from
Genotype parents to offspring.

• The genetic code of an individual that

is heritable.

• Combination of alleles responsible Law of Dominance

for the physical trait.
In a heterozygous gene pair or allele, the one 3. Trihybrid Punnett square-
that expressed is dominant and the other involving 3 different traits.
that is masked is recessive.
Non-Mendelian inheritance pattern
Law of Segregation
Inheritance patterns that do not follow the
A gene pair from parents segregates or Mendel’s law of Inheritance.
separates during gametes formation.
1. Incomplete dominance
Only one gene is received by the sperm or
2. Codominance
egg cell from the parent cell.
3. Pleiotropy
Law of Independent Assortment
4. Epistasis
Alleles/Genes for different trait will be
passed on to the offspring independently 5. Polygenic inheritance
which result to a new combination of traits.
Incomplete dominance
PUNNETE SQUARE (criss cross method)
• The phenotype of the heterozygous
• a diagram that used to predict an offspring is somewhere in between
outcome of a particular cross or the 2 homozygous parents.
breeding experiment.
• Mix or blend of 2 alleles.
• It is a summary of every possible
combination of maternal and
paternal allele for each gene being
studied.

• Named after a British geneticist

Reginald Punnett.

Co-dominance/ multiple allele

Both alleles are equally expressed in the

Types of Punnett square phenotype.

1. Monohybrid Punnett square-

cross between 2 parents
involving only 1 trait/ gene.

2. Dihybrid Punnett square-

involving 2 different traits.
Pleiotropy
• A single gene expressed a multiple
trait.
• A single gene affects several
phenotypic characteristics.
• Example: sickle cell disease and
phenylketonuria
Epistasis
• One gene controls the expression of
the other different gene.
• One gene masked or modifies the
phenotypic expression of another
gene
• Example: red hair color and albinism
Polygenic inheritance (polygenic traits)
• A trait is controlled not only by a
single gene but through multiple
interaction of many genes.
• 2 or more genes controlled for one
trait of characteristics.
• Example: Skin color, hair color, eye
color and height.
• At least 4 genes are involved in
melanin production, combination of
these genes produced degree of
pigmentation.
Polygenic inheritance
• Eye colour- depends of the amount
of melanin on the front of the iris.
• Control by 16 genes.
• Dark and brown eyes- more melanin.
• Green eyes- less melanin.
• Blue eyes- no melanin
Inheritance pattern of genetic disease
I. Mendelian inheritance pattern
(single gene disorder)
• Mutation of a single gene.
• The inheritance pattern of
the disease is similar with
Mendelian inheritance.
 • Mutation occurs either in Autosomal dominant
autosomes or sex
Only 1 gene is needed for the disease to
chromosomes.
manifest.
II. Mitochondrial inheritance

III. Polygenic/multifactorial

Mendelian inheritance pattern

Autosome Sex
mutation chromosome
mutation

Aut Aut X- X- Y-
Autosomal recessive
oso oso link link li
mal mal ed ed n • Most common inheritance pattern of
do rece do rec k genetic disease.
min ssiv min ess e
• Parent is either affected or carrier of
ant e ant ive d
the disease.

• 2 mutated genes are need to

manifest the disease.
Autosomal dominant • E. g. Cystic fibrosis and sickle cell
anemia
• Inherited in an autosomal dominant
manner.

• Can occur in both sexes, and can be

transmitted by either of parents.

• Only 1 mutated gene is need to

develop or manifest the disease.

• E. g. Huntington disease and Marfan

syndrome.

Autosomal recessive

• 2 genes must be present for the

disease to manifest

• Two recessive genes are paired for

an individual to be affected by the
disease.

• If the recessive gene paired with a

dominant gene (normal) an
 individual is unaffected but it can • H- mutated X chromosome
transfer the abnormal gene to
• No superscript- normal X
his/her children.
chromosome

• y chromosomes are unaffected since

it is X-linked trait.

X-linked recessive

• Male is affected (only 1 X

chromosome)

• Female is a carrier (2 X
chromosomes)

• E.g., Colorblindness, Hemophilia A,

Duchenne muscular dystrophy.
X-linked dominant

• Mutation in the X chromosomes of

both sexes.

• Both male and female are affected.

• Male is more severe than female

since male has only one X
chromosome.

• E.g., Rett syndrome, rickets, Alport

syndrome.

Genotypes

1. X h X h - female (homozygous
recessive)

2. X X h - female (heterozygous
recessive)- carrier of the disease (no
signs and symptoms but can transmit
the disease.

3. X h Y - affected male
X-linked dominant
h- abnormal X chromosome
Genotypes
No superscript –Normal X chromosome
X H X H - female (homozygous dominant)
Y-linked
X H X - female (heterozygous dominant)
• Mutation in the Y chromosome
X H Y - male
 • Inheritance pattern is from father-
son only.
• E.g., hypertrichosis- growth of hair on
the outside rim of the ear. Webbed
toes- webbed-liked condition
between 2nd and 3rd toes.
Mitochondrial inheritance disease
1. Diabetes mellitus
2. Leber's hereditary optic neuropathy-
eye disorder
3. Neuropathy, ataxia, retinitis
pigmentosa, and ptosis (NARP)-
Dementia

Polygenic/multifactorial

• Caused by several genes.

• Not consider as genetic disease in

nature.

• Development of the disease are

influenced by environmental factors.

• E.g., malignancies, diabetes,

autoimmune disorders, hypertension
and heart disease.
Inheritance pattern of genetic disease

Mitochondrial inheritance

• MtDNA inherited through the female

line

• Inheritance is from mother to all

offspring and subsequently by her
daughter

• Both sexes are affected but only the

daughter can pass the mutation.