Introduction to Genetics

Sittie Aisha Bustamante Macabago, M.Sc.

Department of Biological Sciences
University of the East- Manila

Evolution and Genes

History
Genetics is the study of genes.
Inheritance is how traits, or
characteristics, are passed on from
generation to generation.
Chromosomes are made up of genes,
which are made up of DNA.
Genetic material ((genes,chromosomes
genes,chromosomes,,
DNA) is found inside the nucleus of a cell.
Gregor Mendel is considered The Father
of Genetics"

Gregor Mendel
Austrian Monk
Experimented with pea plants
Used pea plants because:
They were available
They reproduced quickly
They showed obvious differences in the traits

Understood that there was something that

carried traits from one generation to the
next-- FACTOR
next
FACTOR.
.

Mendel cont

In the mid-1800s, the rules underlying

patterns of inheritance were uncovered in
a series of experiments performed by an
Austrian monk named Gregor Mendel.

Mendel's Plant Breeding Experiments

Gregor Mendel was one of the first to apply
an experimental approach to the question
of inheritance.
For seven years, Mendel bred pea plants
and recorded inheritance patterns in the
offspring.
Particulate Hypothesis of Inheritance
Parents pass on to their offspring separate
and distinct factors (today called genes)
that are responsible for inherited traits.

Mendelian Genetics

Dominant traits
traits-- traits that are expressed.
Recessive traits
traits-- traits that are covered up.
Alleles
Alleles-- the different forms of a characteristic.
Punnett Squares
Squares-- show how crosses are
made.
Probability
Probability-- the chances/ percentages that
something will occur.
Genotype
Genotype-- the types of genes (Alleles)
present.
Phenotype
Phenotype-- what it looks like.
Homozygous
Homozygous-- two of the same alleles.
Heterozygous
Heterozygous-- two different alleles.

Genetics
The study of genes and the
inheritance of traits

Characteristics
These are features
you exhibit
physically
( your looks)
Example: Eye color green

Traits
The different
versions of a
characteristic
Example: blue,
green, and brown
eyes

Inheritance
Occurs when traits
are passed down
from parent to child.

Genes
Bits of information
passed down from
parent to child.

Made of chemicals
called DNA.

Genetic Diseases
Can be passed on through
genes from a parent to the
child.
Example : Marfan
Syndrome
(Individual is tall, has long
arms and legs)
Remember - JOE

Reproduction
Sexual Sperm
fertilizes an egg to
produce offspring

Asexual occurs
when 1 organism
copies itself to
produce offspring

Fertilization
Occurs when a
sperm unites with an
egg

Offspring
Another name for
the children of a
male and female
parent

Mutation
Occurs when genes
make a mistake
mixing and produce
new or different traits
in the offspring.

Genotype
A combination of
alleles
Example: TT, Tt, or tt

*We flipped coins to determine

the genotype of our critters
and puppies.

Alleles
T is considered a
dominant allele

TT is dominant

t is considered a
recessive allele

Tt or tT is
dominant

tt - is recessive

Punnett Square
Uses mom and
dads genotypes to
determine the
possible traits of
their offspring.
4 offspring

Phenotype
They are the traits
determined by
reading the
genotype.
Example : FF =
black fur
Black fur is the
phenotype or trait

Genetic Information
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

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Chromosome Logical Structure

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
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Human Genome
Most human cells
contain 46 chromosomes:
2 sex chromosomes (X,Y):
XY in males.
XX in females.
22 pairs of chromosomes
named autosomes.

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Genotypes

Phenotypes

At each locus (except for sex chromosomes)

there are 2 genes. These constitute the
individuals 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.
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Genotypes

Phenotypes (example)
genotypes

phenotypes

Eb- dominant allele.

Ew- recessive allele.
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Dominant vs. Recessive

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.

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Genetic Relatedness
How close are your
relatives?

Genetic Variability
Meiosis
Recombination
crossing over

Mutation
Genetic Variation

Genetic History
Close relatives
Distant Relatives

One Locus Inheritance

Female
A|A

Male

A|a

A| a

heterozygote

a|a

a|a

a|a

homozygote

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Mendels 1st Law

Two members of a gene pair segregate from each other into
the gametes, so half the gametes carry one member of the
pair and the other half carry the other member of the pair.

Y/y

y/y

Gamete
production

all y
y/y

Gamete
production

y
Y/y
Y
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Calculating Probabilities
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.
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X-linked Inheritance
Different results obtained
from reciprocal crosses
between red-eyed and whiteeyed Drosophila.

Explanation: The gene

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

Different gene pairs assort independently
in gamete formation.

This law is true only in some cases.

Gene pairs on SEPARATE CHROMOSOMES
assort independently at meiosis.
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Medical Genetics
When studying rare disorders, 6 general
patterns of inheritance are observed:

Autosomal recessive
Autosomal dominant
X-linked recessive
X-linked dominant
Codominant

Mitochondrial
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Medical Genetics (cont.)

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

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Medical Genetics (cont.)

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.
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Medical Genetics (cont.)

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

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Medical Genetics (cont.)

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

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Medical Genetics (cont.)

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

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Medical Genetics (cont.)

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)
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Question #1

Write the genotypes in every possible place.

If individuals 1 and 2 marry, what is the probability that
their first child will be sick?

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Question #2
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 ?
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Question #2-Solution Highlights

P/p

P/p

P/p

P/p

p/p

P/-

P/-

p/p

P the normal allele

p the mutant allele
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Question #3
The disease is rare.

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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 ?
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Question #3-Solution Highlights

a.

Observations:

b.

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!

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
2 x 3: 2 must be a/Y
3 must be A/a
2 x 8: 2 must be a/Y
8 must be a/a

Same
All normal
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Notes
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.
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Notes
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.
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Notes

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.
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Notes
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).
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