Genetic Applications

Gene Mutations
 Any change in the base sequence of an
organisms DNA
 The mutations can be:
– Additions: adding of bases to a sequence
– Deletions: the losing of bases from a sequence
– Substitution: The exchange of one base in a
sequence
– Translocation: transfer of a section of a
chromosome to a non-homologous chromosome.
Chromosome Mutations
 Non-disjunction: One or more
chromosomes fail to separate
normally during meiotic division.
– Down syndrome: an extra
chromosome 21 occurs, 1-in-800 to
1-in-25 depending on mother's age -
usually mentally retarded, enlarged
tongue, round flat facial features.
– Edwards syndrome: an extra
chromosome 18, occurs 1-in-3000 -
few children survive, usually more
severe mental retardation and
physical problems than Downs.
– Patau syndrome: an extra
chromosome 13, 1-in-5000 - severe
mental and physical problems.
Sex Chromosome Disorders
 Turner syndrome (X): females, 1-in-5000, minor
problems except for sterility.
 Klinefelter syndrome (XXY): male, 1-in-1000,
reduced testosterone, more female-like features,
usually sterile.
 Jacobs syndrome (XYY): male, 1-in-2000, mostly
normal, sometimes over-male features such as
acne, very tall, and behavioral aggression.
 Triple-X (XXX, also XXXX or XXXXX): female, 1-in-
700, most are apparently normal, some sterile, some
have slightly lower mental ability.
More Chromosome Mutations

 Polyploidy: the non-disjunction of a complete

set of chromosomes
– 2n + n  3n zygote, 2n +2n  4n zygote
 In animals, this is usually lethal
 In plants, individual is usually larger or more vigorous
and some are seedless
Genetic Research
 Cloning: Producing a group of genetically identical
offspring from the cells of an organism
Genetic Engineering
 Transferring genetic information from one
organism to another, resulting in the
formation of recombinant DNA
 Engineers have been successfully taking
human genetic information and transferring
them into certain bacteria cells. Bacteria cells
reproduce in great numbers producing
human chemicals useful in treating human
disorders.
Mixture of cloning and engineering

 Humans have been

creating cows and
sheep that make
therapeutic proteins
 Scientists use
recombinant DNA and
engineering techniques
to make insulin for
diabetics in this manor.
Medical Genetic Research
 Designing ways to
diagnose, treat, control,
and cure disease
 Most research is on
“lower” life forms
because human
subjects are not
suitable
Genetic Counseling
 Discussion between
physician and the
family that include
probabilities of
inheritance patterns,
predictions of genetic
disorders, and family
planning.
Genetic Screening
 Chemical analysis of
body fluids for the
presence of certain
chemicals which are
associated with genetic
disorders
Karyotyping
 Preparations of an
enlarged picture
showing paired
homologous
chromosomes
Amniocentesis
 Removal of amniotic
fluid for chemical
analysis. Shows the
chromosome content of
the cells of the embryo
Selective Breeding
 Artificial Selection: Breeding
– Putting two certain individuals together to
reproduce because of the desirable traits they
have.
– Inbreeding: Reproducing with closely related
individuals
– Hybridization: Cross breeding, breeding two
different species.
– Vegetative Propagation
The Labradoodle

A Labrador
and a poodle
mixed so that
people allergic
to dogs can
still have a lab
The Human Genome Project
 Project goals were to
– identify all the approximately 20,000-25,000 genes in
human DNA,
– determine the sequences of the 3 billion chemical base
pairs that make up human DNA,
– store this information in databases,
– Improve tools for data analysis,
– transfer related technologies to the private sector, and
– address the ethical, legal, and social issues (ELSI) that may
arise from the project.