is the science of heredity.

Heredity is the transmission of genetic or

physical traits from parent to offspring.
These are features you
exhibit physically
( your looks)

Example: Eye color - green

The different versions of a
characteristic
Example: blue, green, and
brown eyes
 Occurs when traits are
passed down from
parent to child.
* Austrian Monk
* Considered the “Father of Heredity”
* He conducted plant breeding
experiments in their monastery
garden.
* In 1865 he made his work public,
units of inheritance.
* Each of the 100 Trillion cells in our body
except the red blood cells contains the
entire human genome, in the nucleus of
every cell is the genetic information
“blueprint” to construct the individual.

* It is the Deoxyribonucleic acid (DNA)

Function of DNA
* Genetic code for almost every organism.
* Provide template for protein synthesis.
 Gene – basic unit of genetic
information. Genes determine the
inherited characters.
 Genome – the collection of
genetic information.
 Chromosomes – storage units of
genes.
 DNA - is a nucleic acid that
contains the genetic instructions
specifying the biological
development of all cellular forms
of life

•7
Adenine= A
Thymine= T
Guanine= G
Cytosine= C
A always pairs with T
C always pairs with G
Adenine= A
Uracil= U
Guanine= G
Cytosine= C
G always pairs with C
T from the DNA = A in the RNA
A from the DNA = U in the RNA
•DNA is information
•● DNA replicates in s-
phase
•● Daughter cells carry
•identical information
•● Represented as a
string
•over Σ={A,C,G,T}
•● Main agent of
information
•transfer across
generations
•DNA replication
•One “parental” double
stranded DNA molecule to
two identical “daughter”
molecules (semiconservative)
• How?
•DNA unwinds and strands
are separated (replication
fork)
• Free nucleotides are
matched to exposed bases
• DNA polymerase joins
nucleotides
•New and original strands
rewind •12
•Addition of nucleotides
• DNA polymerase
only adds nucleotides to
the 3’ end ofDNA
• Synthesis
requires energy
(gained from
hydrolysis of
phosphate
bonds)

•13
•Central Dogma of Molecular Biology
● DNA
− Double-stranded
− Long, immobile
− Stable, inert
− Information across
generations
● RNA:
− Single-stranded
− Short, mobile
− Short-lived, reactive
− Information around
the cell
● Protein:
− Functional gene product
•Transcription
● 1-1 copying of the gene
sequence: Σ={A,C,G,U}
● Performed by enzymes
● As needed, regulated by
nearby DNA sequences

•15
TRANSCRIPTION
DNA is copied into a complementary
strand of mRNA.

WHY?
 DNA cannot leave the nucleus. Proteins

are made in the cytoplasm. mRNA

serves as a “messenger” and carries the
protein building instructions to the
ribosomes in the cytoplasm.
HOW TRANSCRIPTION OCCURS
1. RNA polymerase untwists and unzips a
section of DNA (usually a single gene)
from a chromosome.
2. RNA polymerase pairs free RNA nucleotides
to the exposed bases of one of the DNA
strands following base pair rules.
 Uracil replaces thymine

 Only 1 strand of DNA serves as a template,

the other “hangs out”

3. Newly synthesized mRNA separates from
template DNA and DNA zips back up.
TRANSCRIPTION EXAMPLE
 Transcribe the following DNA Sequence in

mRNA

TAC CGG ATC CTA GGA TCA

AUG GCC UAG GAU CCU AGU
PROTEINS
Structural and functional components of
organisms.
 Composed of amino acids

 order of nucleotides in DNA determines order

of amino acids in a protein

 One gene codes for one protein
DNA: TAC CTT GTG CAT GGG ATC
mRNA AUG GAA CAC GUA CCC UAG
A.A MET G.A HIS VAL PRO STOP
Eukaryotic mRNA
exits the nucleus
● Messenger RNA is
transcribed inside
the nucleus but
translated outside
● Requires processing
into mature mRNA

•22
mRNA Processing
● Capping head,
Poly-A tail added
● Most of the
pre-mRNA is
spliced out

•23
Translation
● Machinery:
− Ribosome
− tRNA “adaptors”
● From mRNA
nucleotide triplets to
amino acids
● Uses the genetic
code: 43→20+”stop”

•24
 This is a molecule of messenger
RNA.
It was made in the nucleus by
transcription from a DNA molecule.

codon
AUGGGCUUAAAG CAGUGCACGUU

mRNA
molecule
25
 A ribosome on the rough
endoplasmic reticulum attaches
to the mRNA molecule.

ribosome

AUGGGCUUAAAG CAGUGCACGUU

•26
 Amino acid
tRNA molecule
A transfer RNA molecule arrives.
It brings an amino acid to the first
three bases (codon) on the mRNA.
anticodon The three unpaired bases (anticodon)
on the tRNA link up with the codon.
UAC
AUGGGCUUAAAG CAGUGCACGUU

•27
 Peptide
bond

A peptide bond forms

between the two amino
acids.
UACCCG
AUGGGCUUAAAG CAGUGCACGUU

•28
 The first tRNA molecule
releases its amino acid and
moves off into the cytoplasm.

A C
U CCG
AUGGGCUUAAAG CAGUGCACGUU

•29
 The ribosome moves along the
mRNA to the next codon.
CCG
AUGGGCUUAAAG CAGUGCACGUU

•30
 Another tRNA
molecule brings the
next amino acid into
AA place.
CCG U
AUGGGCUUAAAG CAGUGCACGUU

•31
 A peptide bond joins the
second and third amino
acids to form a
polypeptide chain.
CCGCCG
AUGGGCUUAAAG CAGUGCACGUU

•32
The process continues.
The polypeptide chain gets longer.
This continues until a termination
(stop) codon is reached.
The polypeptide is then AC
G U C G
complete.
AUGGGCUUAAAG CAGUGCACGUU

•33
•34
THE GENETIC CODE
2nd base

U C A G
•1 st
U
Phenylalanine Serine Tyrosine Cysteine U 3rd
b
U Phenylalanine Serine Tyrosine Cysteine C b
a
s U Leucine Serine Termination Termination A a
e U Leucine Serine Termination Tryptophan G s
C Leucine Proline Histidine Arginine U e
C Leucine Proline Histidine Arginine C
C Leucine Proline Glutamine Arginine A
C Leucine Proline Glutamine Arginine G
A Isoleucine Threonine Asparagine Serine U
A Isoleucine Threonine Asparagine Serine C
A Isoleucine Threonine Lysine Arginine A
A Methionine Threonine Lysine Arginine G
G Valine Alanine Aspartic acid Glycine U
G Valine Alanine Aspartic acid Glycine C
G Valine Alanine Glutamic acid Glycine A
G Valine Alanine Glutamic acid Glycine G
•35
 DNA replication – starts with the separation of DNA
strands. Then enzymes use each strand as a template to
assemble new nucleotides into a complementary strand.
Using the enzyme DNA polymerase, the cell synthesizes
one daughter strand as a continuous piece, the other as a
series of shirt pieces which are then connected by the
enzyme DNA ligase
 Codons- triplets of bases

 Transcription – in the nucleus, the DNA helix

unzips, and RNA nucleotides line up and hydrogen-bond
along one strand of the DNA, following the base-pairing
rules.

•36
 As the single-stranded messenger RNA (mRNA)peels
away from the gene, the DNA strands rejoin. Eukaryotic
RNA is processed before leaving the nucleus as mRNA.
Noncoding segments called introns are spliced out, and a
cap and tail are added to the ends.
 Translation – takes place in the cytoplasm. A ribosome
attaches to the mRNA and translates its message into a
specific polypeptide, aided by transfer RNAs (tRNAs)
that act as interpreters. Each tRNAis a folded molecule
bearing a base triplet called as anticodon on one end; a
specific amino acid is added to the other end.

•37
The DNA in every cell is located in rod like
segments called chromosomes
Chromosomes occurs in pairs in every cell of our
body except in the sperm and ovum.
Chromosomes numbers are the same for each
specie.
Species Diploid # Haploid #
Cattle 60 30
Swine 38 19
Sheep 54 27
Horse 64 32
Human 46 23
Chicken 78 39
Goat 60 30
Donkey 62 31
 There are 2 sex chromosomes included in
the diploid number of the chromosomes.
 All of the other chromosomes are referred
to as autosomes.
 In mammals if the sex chromosomes are
alike, XX it results in a female.
 If the sex chromosomes are different, XY it
results in a male.
 Locus – location of a gene/marker
on the chromosome.

 Allele – one variant form of a

gene/marker at a particular locus.

Locus1
Possible Alleles: A1,A2

Locus2
Possible Alleles: B1,B2,B3

•41
 Females contribute an X chromosome towards the sex of
their offspring.
 Males can contribute an X or a Y chromosome toward
the sex of their offspring.
 Absence of an Y chromosome results in a the embryo
developing into a female.
 Presence of an Y chromosome results in the embryo
developing into a male.
 Gametogenesis =
Formation of gametes
through meiosis.
 Male = 4 viable
spermatids
 Female = 1 viable
ovum, 3 polar bodies.
Most human cells
contain 46 chromosomes:

 2 sex chromosomes (X,Y):

XY – in males.
XX – in females.

 22 pairs of chromosomes
named autosomes.

•44
 At each locus (except for sex chromosomes)
there are 2 genes. These constitute the
individual’s genotype at the locus.

 The expression of a genotype is termed a

phenotype. For example, hair color, weight,
or the presence or absence of a disease.

•45
 genotypes

phenotypes

 Eb- dominant allele.

 Ew- recessive allele.
•46
•A dominant allele is
expressed even if it is
paired with a recessive
allele.

•A recessive allele is
only visible when paired
with another recessive
allele.

•47
 Female
A|A 1 2 a|a

Male A|a 3 4 a|a

A| a 5 6 a|a

heterozygote homozygote
•48
Two
Two members
members ofof aa gene
gene pair
pair segregate
segregate from
from each
each other
other into
into
the
the gametes,
gametes, so
so half
half the
the gametes
gametes carry
carry one
one member
member ofof the
the
pair
pair and
and the
the other
other half
half carry
carry the
the other
other member
member of
of the
the pair.
pair.

Y/y y/y Gamete

production

Gamete
all y
production y/y ½
y½

Y/y ½
Y½
•49
 We want to predict
patterns of inheritance
of traits and diseases in
pedigrees.

 E.g., we want to know

the likelihood that a
dog chosen at random
from the study
population will have blue
eyes.

•50
 Angus- Black coat color is dominant.
 BB = Homozygous Dominant and Black
 Bb = Heterozygous and is black
 bb = Homozygous recessive and red
 A heterozygous bull is mated to 50 homozygous
recessive cows.
 How many calves are black?
 How many calves are red?
 What is the genotypic and phenotypic ratios?
 B b
b Bb bb
b Bb bb
 2 heterozygous = Bb
 2 Homozygous
Recessive bb
 25 Black, 25 Red
 Genotypic ratio = 0:2:2
 Phenotypic ratio =

2 Black: 2 Red
 Some recessive genes are attached to the X and Y
chromosomes
 Humans: Colorblindness and Baldness are on the
X chromosomes
 In Men, traits expressed anytime present
 In Women, must have two recessives to show trait
 Children get baldness from mothers
 XB Y

X XX B XY

X XX B XY
 X Y

XB XXB XB Y

X XX XY
 X Y

XB XXB XB Y

XB XXB XY
B
 If both genes express themselves
 Shorthorn Cattle: Red male mated to a White
female = Roan calf
 RR crossed rr = Rr
 Shorthorn Cattle
 RR = Red
 rr = white
 Rr = roan
 If a red bull (RR) is mated to a white cow (rr),
what color will the calves be?
 R R

r Rr Rr
r Rr Rr
 If a red bull (RR) is mated to a roan (Rr) cow,
what color will the calves be?
 R R
R RR RR
r Rr Rr
 R r
R RR Rr
r Rr rr
X-linked Inheritance

Different results obtained

from reciprocal crosses
between red-eyed and
white-eyed Drosophila.

Explanation: The gene

responsible for eye-color
is X-linked. Females have
X-chromosomes, while 2
males have 1 X-chromosome
.and 1 Y-chromosome

•64
  Different gene pairs assort independently
in gamete formation.

.This “law” is true only in some cases

Gene
Gene pairs
pairs on
on SEPARATE
SEPARATE CHROMOSOMES
CHROMOSOMES
assort
assort independently
independently at
at meiosis.
meiosis.

•65
When studying rare disorders, 6 general patterns
of inheritance are observed:

 Autosomal recessive
 Autosomal dominant
 X-linked recessive
 X-linked dominant
 Codominant
 Mitochondrial

•66
Autosomal recessive
 The disease appears
in male and female
children of
unaffected parents.
 e.g., cystic fibrosis

•67
Autosomal dominant
 Affected males and

females appear in each

generation of the
pedigree.
 Affected mothers and

fathers transmit the

phenotype to both sons
and daughters.
 e.g., Huntington disease.

•68
X-linked recessive
 Many more males than
females show the disorder.
 All the daughters of an
affected male are
“carriers”.
 None of the sons of an
affected male show the
disorder or are carriers.
 e.g., hemophilia

•69
X-linked dominant
 Affected males pass the
disorder to all daughters
but to none of their sons.
 Affected heterozygous
females married to
unaffected males pass the
condition to half their sons
and daughters
 e.g. fragile X syndrome

•70
Codominant inheritance

 Two different versions

(alleles) of a gene can be
expressed, and each
version makes a slightly
different protein
 Both alleles influence the
genetic trait or determine
the characteristics of the
genetic condition.
 E.g. ABO locus

•71
Mitochondrial inheritance
 This type of inheritance
applies to genes in
mitochondrial DNA
 Mitochondrial disorders
can appear in every
generation of a family and
can affect both males and
females, but fathers do
not pass mitochondrial
traits to their children.
 E.g. Leber's hereditary
optic neuropathy (LHON)

•72
 1 2

• Write the genotypes in every possible place.

• If individuals 1 and 2 marry, what is the probability that
their first child will be sick?
•73
 PKU is a human hereditary disease resulting from
inability of the body to process the chemical
phenylalanine (contained in protein that we eat).

 It is caused by a recessive allele with simple Mendelian

inheritance.

 Some couple wants to have children. The man has a

sister with PKU and the woman has a brother with PKU.
There are no other known cases in their families.
 What is the probability that their first child will
have PKU ?

•74
 P/p P/p P/p P/p

p/p -/P -/P p/p

P – the normal allele

p – the mutant allele

•75
 • The disease is rare.

1 2 3 4 5 6 7 8 9 10

a. What is the most likely mode of inheritance ?

b. What would be the outcomes of the cousin marriages

1 x 9, 1 x 4, 2 x 3, and 2 x 8 ?
•76
a. Observations:
 After the disease is introduced into the family in generation
#2, it appears in every generation  dominant!
 Fathers do not transmit the phenotype to their sons 
X-linked!

b. The outcomes:
 1 x 9: 1 must be A/a
9 must be A/Y
 1 x 4: 1 must be A/a
4 must be a/Y
Same
 2 x 3: 2 must be a/Y
3 must be A/a
2 x 8: 2 must be a/Y
All normal


8 must be a/a

•77
 Cystic fibrosis – disease affecting the mucus lining of the
lungs, leading to breathing problems and other difficulties
 Huntington disease - or Huntington's chorea is an inherited
disorder characterized by abnormal body movements called
chorea, and loss of memory. There also is evidence that doctors as
far back as the Middle Ages knew of this devastating disease. The
incidence is 5 to 8 per 100,000. It takes its name from the New
York physician George Huntington who first described it precisely
in 1872.

•78
 Hemophilia-illness that impair the body's ability to
control bleeding.
 Fragile X syndrome - is a genetic condition that
causes a range of developmental problems including
learning disabilities and mental retardation. Usually
males are more severely affected by this disorder than
females. In addition to learning difficulties, affected
males tend to be restless, fidgety, and inattentive.
Affected males also have characteristic physical features
that become more apparent with age.

•79
 DNA - a pair of molecules joined by hydrogen bonds: it is organized
as two complementary strands, head-to-toe, with the hydrogen
bonds between them. Each strand of DNA is a chain of chemical
"building blocks", called nucleotides, of which there are four
types:adenide (abbreviated A), cytozyne (C), guanine (G) and
thymine (T).

 Mitochondria, which are structures in each cell that convert

molecules into energy, each contain a small amount of DNA.

 A chromatid forms one part of a chromosome after it has coalesced

for the process of mitosis or meiosis. During either process, the
word "chromosome" indicates a pair of two exactly identical
("sister") chromatids joined at the central point of each chromatid,
called the centromere.

•80
 Mitosis is the process by which a cell separates its
duplicated genome into two identical halves
 Meiosis is the process that transforms one diploid into
four haploid cells.
 Reciprocal cross a cross, with the phenotype of each
sex reversed as compared with the original cross, to test
the role of parental sex on inheritance pattern. A pair of
crosses of the type genotype A(female) X genotype
B(male) and genotype B(female) X genotype A(male).

•81