GEnetics

1. NUR FARRA NAJWA BINTI ABDUL AZIM
082015100035

2.  At the end of the seminar, students should be
able to explain
 What is gene
 Allele
 Polymorphism
 Mutation
 What is gene therapy

3. Genes are made up of DNA. Each
chromosome contains many genes.
Credit: U.S. National Library of Medicine

4.  A gene is the basic physical and functional
unit of heredity.
 Made up of DNA, act as instructions to make
molecules called proteins.
 Genes vary in size from a few hundred DNA
bases to more than 2 million bases.
 The Human Genome Project has estimated
that humans have between 20,000 and
25,000 genes.

5.  Every person has two copies of each gene,
one inherited from each parent.
 Most genes are the same in all people, but a
small number of genes (less than 1 percent
of the total) are slightly different between
people.

6.  Alleles are forms of the same gene with small
differences in their sequence of DNA bases.
 These small differences contribute to each
person’s unique physical features
 Eg : eye color, hair color, and blood type
POLYMORPHISM

8.  The property of a molecule to exist in more
that two form
 The presence of genetic variation within a
population, upon which natural selection can
operate.
 Which means that there is the differences
sequence of DNA on homologous
chromosomes that result different fragment
of different length (restricted fragment
length polymorphism) RFLP

10.  The DNA also contains large sequences that do
not code for any protein and their function is
not known.
 The gene of the coding region encodes
instructions that allow a cell to produce a
specific protein or enzyme.
 In order to make proteins, the gene from the
DNA is coped by each of the chemical bases
into messenger RNA (ribonucleic acid) or
mRNA.

12.  Mutation that affect one or few nucleotides in a
gene
 Types
 Point mutations
 Splice site mutations
 Frameshift mutations
 Mutations can lead to missing or malformed
proteins, and that can lead to disease.
 Eg: Cancer, Adenosine deaminase deficiency
(ADA)

14. HOW TO TREAT
THE GENETIC
DISORDERS?

15.  An experimental technique that uses genes to
treat or prevent disease.
 In the future, this technique may allow doctors
to treat a disorder by inserting a gene into a
patient’s cells instead of using drugs or surgery.
 Researchers are testing several approaches to
gene therapy, including:
 Replacing a mutated gene that causes disease with a
healthy copy of the gene.
 Inactivating, or “knocking out,” a mutated gene that
is functioning improperly.
 Introducing a new gene into the body to help fight a
disease.

16.  Types :

20.  At the end of the seminar students should be
able to explain
 What is gene
 What is gene therapy

21.  https://ghr.nlm.nih.gov/primer/therapy/gen
etherapy
 Textbook of Biochemistry, DM Vasudevan

22. THANK YOU