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Genetics
 KEY OBJECTIVES
Distinguish between typical Mendelian inheritance and atypical
Mendelian inheritance
Outline the process of genetic engineering.
Explain how bacteria are used as model organism in research studies.
Outline the key events and outcome of the human genome project and
describe disease gene and mutation types.
Identify the procedure involved in DNA analysis and forensic medicine.
Familiarize with basic bioinformatics tools and computational analysis
of DNA and protein
 GENETICS

Austrian monk Gregor Mendel described the patterns

of inheritance, observing that traits were inherited as
separate units. These units are now known as genes.
Mendel’s work formed the foundation for later scientific
achievements that heralded the era of modern genetics.
   
 GENETICS
Genetics, study of the function and behavior of genes.
Genes are bits of biochemical instructions found inside the cells of
every organism from bacteria to humans.
It is the molecular unit of heredity of a living organism or the
fundamental physical and functional unit of heredity.
Gene Expression is the process by which information from a gene is
made use of in the synthesis of a functional gene product
 GENETICS

Offspring receive a mixture of genetic information from both parents.

This process contributes to the great variation of traits that we see in
nature, such as the color of a flower’s petals, the markings on a
butterfly’s wings, or such human behavioral traits as personality or
musical talent.
Geneticists seek to understand how the information encoded in genes is
used and controlled by cells and how it is transmitted from one
generation to the next.
 GENETICS
Geneticists also study how tiny variations in genes can disrupt an
organism’s development or cause disease. Increasingly, modern genetics
involves genetic engineering, a technique used by scientists to manipulate
genes. Genetic engineering has produced many advances in medicine and
industry, but the potential for abuse of this technique has also presented
society with many ethical and legal controversies.
Genetic information is encoded and transmitted from generation to
generation in deoxyribonucleic acid (DNA).
DNA is a coiled molecule organized into structures called chromosomes
within cells. Segments along the length of a DNA molecule form genes.
 GENETICS

Genes direct the synthesis of proteins, the molecular laborers that carry
out all life-supporting activities in the cell. Although all humans share the
same set of genes, individuals can inherit different forms of a given gene,
making each person genetically unique.
Gene Pool is the group of all genes, or genetic information in any
population, normally of a specific species. This as well proves to be the
fundamental level at which evolution takes place.
DOMINANT Gene: More powerful - trait seen in person
RECESSIVE Gene: Weaker and hides in the background. Trait can only determine
when two of them are present - may show up in future generations.

CARRIER: Has a recessive gene that is not visible

SEX-LINKED: Mother passes the recessive X to son

Color-blind male receives the trait from his mother.
The mother is usually not color-blind herself.

B = BROWN eyes (dominate) b = BLUE eyes (recessive)

BB = BROWN eyes

bb = BLUE eyes

Bb = BROWN eyes but carry the recessive BLUE eye gene

 MULTIPLE BIRTHS
ZYGOT: the cell that is formed when a sperm fertilized an egg (ovum)
MONOZYGOT: Identical Twins 1 Egg + 1 Sperm
Fertilized ovum splits into 2 identical cells - Always the same gender

DIZYGOT: Fraternal Twins 2 Eggs + different Sperm

Will look different - May be different or the same gender

MULTIPLE BIRTHS: More than 2

May be identical, fraternal or both - May be different or the same gender

CONJOINED (Siamese) TWINS: Ovum splits apart, but the separation is not
completed. Babies are joined at some part of their bodies.
 What 4 FACTORS may contribute to
Multiple Births?

1) History in the family Likelihood of multiple

2) Increased hormones
naturally
More than 1 egg released
3) Fertility Drugs
More than 1 egg released
4) Age 32-36
pregnancies in the United
States
Twins: Blacks- 1 in 73
Whites 1 in 93
Triplets: 1 in 10,000
Quadruples: 1 in 620,000
Sex - Linked or X - Linked Defect: When an X-gene from the
mother is faulty. There is a 50/50 chance of the child inheriting the disorder.

Syndrome: When a group of signs and symptoms occur together and

characterize a particular problem.

Congenital Malformation: A condition that is present at birth.

Multi-factorial Defects: Interaction of genes with other genes OR with
environmental factors.

Chromosomal Error: The fertilized egg cell that contains chromosomes

in an abnormal number, structure or arrangement.
 TWO TYPES OF GENE CHANGES

Chromosomal changes – the number of

chromosomes or the arrangement of genes on a
chromosome
Gene Mutations – a change in the sequence of
bases in a gene.
Changes affecting number of Chromosomes

A genome is a complete haploid set of its

chromosomes.
A diploid cell has two complete genomes.
Diploid organisms, like us, have to go through
meiosis to produce haploid gametes (either sperm or
eggs).
 DNA (DEOXYRIBONUCLEIC
ACID)
The site where genes work is the cell. Some organisms, such as paramecia or amoebas,
are made up of a single cell. Other organisms are made of many kinds of cells, each
having a different function. Each cell’s function within an organism is determined by
the genetic information encoded in DNA.

In animals, plants, and other eukaryotes (organisms whose cells contain a nucleus),

DNA resides within membrane-bound structures in the cell. These structures include
the nucleus, the energy-producing mitochondria, and, in plants, the chloroplasts
(structures where photosynthesis takes place).

In prokaryotes, one-celled organisms and bacteria that lack internal membrane-bound

structures, DNA floats freely within the cell body.
CELL: Basic unit of all living matter (Adult = over 10 trillion cells)

CYTOPLASM: Substance of a cell outside of

the nucleus
NUCLEUS: Central point of
cell / contains genetic coding for
maintaining life systems and
issuing commands for growth &
reproduction
CHROMOSOMES:
46 in each Nucleus (23 pairs)
GENES: bands on
chromosomes (thousands of genes)
DNA on genes (billions of
DNA)
 Parthenogenesis
Parthenogenesis, growth of an organism from an unfertilized gamete, or
sex cell. It is common in the animal kingdom up through the class Insecta,
but it occurs much more rarely thereafter. The mechanisms involved in the
process are not yet well understood. A few kinds of amphibians, reptiles, and
birds can reproduce parthenogenetically, but mammal embryos derived
experimentally in this manner have thus far died within a period of days.
Parthenogenesis also occurs, less commonly, among the lower plants.
Among plants, the biological reproduction of fruit without fertilization is
called parthenocarpy. Such fruit is seedless.
Do-it-yourself or self-reproduction
 Euploidy
A chromosome number that is a multiple of the haploid
number (N).
For Example, the human haploid number is 23, this is N.
Our diploid chromosome number is 46, which is 2N.
Organisms can be polyploid, which means they can have
three or more genomes.
 Euploidy
n – one genome
2n (diploid) – two sets of the same genome
3n (triploid) – three sets of same genome
4n (tetraploid) – four sets of same genome
Liver cells in humans are tetraploid.
 Polyploids
Many of the crops that we plant today are good examples
of polyploids.
Corn, wheat, cotton, seedless watermelons.
Polyploids can be produced by using colchicine to stop
the formation of the spindle fibers during mitosis. This
will from diploid gametes.
2n + 2n = 4n (tetraploid)
 Aneuploidy
Lacking or have extra chromosomes
2n + 1 or trisomy
2n – 1 or monosomy
A chromosome will fail to separate during meiosis. This is
called nondisjunction.
Examples are Downs, Klinefleters, Turners, Trisomy X
 Mutations
A change in the DNA of an organism
Think of the Chromosomes as a bead of pearls,
like a necklace. This necklace can be broken and
repaired.
The repair can be out of order and moved, thus
causing a rearrangement of the genes.
 Translocation
Remember crossing over in Meiosis. This is one
form of Translocation.
One piece of a chromosome coming loose and
attaching to another chromosome.
But this can also happen with nonhomologous
chromosomes and cause real problems.
 Deletion
A complete loss of a section of chromosome is called Deletion.
The piece that comes loose leaves the nucleus of the cell and
disintegrates.
This is harmful, if the other homologous chromosome has a
“bad” recessive gene and the dominant “normal” gene is the one
that is lost.
Cri du Chat
 Inversion

Inversion is a segment of the chromosome

breaks off and reattaches at the same spot,
but it is in reverse order.
 Gene Mutations
When one nucleotide is changed, it is called a point
mutation.
Examples are:
Substitution
Addition
deletion
 Biological Effects of Mutations
Spontaneous mutations happen naturally
Mutagens can also induce mutations. Mutagens are
gases, chemicals, or radiation.
Somatic mutations are mutations in somatic cells (non-
sex cells)
Germ Mutations is a mutation in a cell that forms
gametes (sex cell).
 Gene Expression
Gene expression is the activation or turning on of a
gene that results in its transcription and the production
of a specific protein.

Morphogenesis is a change in the form that an

organism undergoes, this is controlled by the
expression of genes.
 Controls of gene expressions
Sex-linked characteristics are the results of gene
expression.
The presence or absence of sex hormones turns on or
off the genes that code for sex-limited characteristics.
EX. Feathers of birds, body hair, breast development.
 Controls of gene expressions

Environmental Factors, temperature, light,

chemical, nutrients.
Temperature on the fur of the Himalayan rabbit.
Ice pack on the ears turns fur black, while heat
turns fur white.
 Cancer
Cells that are not responsive to the normal controls of the cell
cycle.
Two genes that regulate the cell cycle are:
Proto – oncogenes – code for proteins that stimulate cell division.
Tumor suppressor genes – Prevent uncontrolled cell growth.
There has to be a balance between these two.
Mendelian and Non-Mendelian
Inheritance
Basing on Mendelian principles, a mutant allele of an
autosomal gene is equally likely to be transmitted from a
parent to the offspring.
Similarly, a female is equally likely to transmit a mutated X-
linked gene to a child of either sex. In some genetic disorders,
the expression of disease phenotype depends on whether the
mutant allele has been inherited from the father (Y-linked) of
from the mother (X-linked)