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Protein Synthesis
Mutations and Genetic
Disorders
Standards:
BI4. c. Students know how mutations in the DNA
sequence of a gene may or may not affect the
expression of the gene or the sequence of
amino acids in an encoded protein.
BI5. c. Students know how genetic engineering
(biotechnology) is used to produce novel
biomedical and agricultural products.
BI5. a. Students know the general structures and
functions of DNA, RNA, and protein.
Objectives:
explain the genetic factors that influence the way we look.
recognize that DNA contains the genetic information that determines
the way we look.
explain the structure and function of DNA, RNA, and proteins.
predict the physical characteristics of an organism based on its
genetic make up.
understand the general pathway by which ribosomes make proteins.
explain the causes of gene and chromosomal mutations in
multicellular organisms.
understand how changes in DNA sequences can cause
changes in the proteins that are produced.
Review-What is the central dogma?
The central dogma describes the flow of
information from DNA to RNA to proteins.
Review-How does your DNA
determine what you look like at the
molecular level?
Your traits are determined by your DNA
because your DNA has codes/instructions
for your traits called genes. Genes contain
the codes for proteins, which make-up
many structures such as your fingernails,
hemoglobin, muscles, and the color of
your eyes. The process of converting the
instructions of your traits from your genes
into protein molecules is called protein
synthesis.
Mutations!!!!!!!!
What happens when protein
synthesis doesn’t work properly?
When there is a change in an organism’s
DNA this can change the organism’s
phenotype. By changing the DNA
sequence we are changing the
“instructions” for proteins and this can
change an organism at the molecular level.
This is similar to what happens when you
change a step in a recipe or shift the
reading frame in a sentence. These
changes alter the product.
Gene Mutations
Changes in a single gene
Point mutations=occur at a single point in
the nucleotide, change one amino acid in
a protein, substitution
Frameshift= insertion or deletion of a
nucleotide, shift reading frame of amino
acids, alters function of proteins
Point and Frameshift Mutations
Point=
Biology is so much fun.
Biology is so much dog.
Frameshift=
The cat ate the rat.
Thc ata tet her at.
Chromosomal Mutations
Changes in the number or structure of
chromosomes
Can change the location or number of
copies of some genes
Deletion, Duplication, Inversion,
Translocation
What are genetic disorders?
A genetic disorder, or genetic disease is
a disease caused by abnormal expression
of one or more genes in a person causing
a phenotype.
Genetic Disorders
PKU- metabolic disease, affects the way
body processes one of the building blocks
of protein
Osteogenesis Imperfecta- bone structure
is not produced properly
Achondroplasia- dwarfism
Trisomy 21-three chromosome 21’s,
Down Syndrome
Achondroplasia
Osteogenesis Imperfecta
Individuals with DS
Hemophilia
Sickle Cell Anemia
Albinism
Summary Questions:
What happens when protein synthesis doesn’t
work properly?
How do gene mutations cause changes in the
proteins that are produced?
What are chromosomal mutations?
How do genetic changes (DNA sequences,
chromosome #) cause changes in the proteins
that are produced?