Download File

Unit 9 - Mutations
On the following slides, the
orange sections identify the
summary; underlined words
= vocabulary! Hyperlinks are
in turquoise.
Image Accessed 01/04/2011
The Verbiage: Mutant
What is the meaning of the word mutant? How
does it relate to the word mutation? On the
post-it note, jot down some definitions in your
own words.
Image Accessed 01/04/2011
Is this a mutant?
Image Accessed 01/04/2011
Hemophilia
Albinism
http://upload.wikimedia.org/wikipedia/commons/thu
mb/9/9a/Albinisitic_man_portrait.jpg/230pxAlbinisitic_man_portrait.jpg
http://www.hemophilia-information.com/history-ofhemophilia.html
Sickle
Cell
http://i.i.com.com/cnwk.1d/i/tim/2012/01
/04/AP1111141114811RyanClark_620
x350.jpg
These mutants!
Dwarfism
http://www.fansofrealitytv.com/forums/imagehosting/2459
3efbbf0194.jpg
Image Accessed 01/04/2011
Knowledge Check
What is a gene? Where
does the
information for a
“gene” come
from? Turn and
talk to your
neighbor.
http://www.accessexcellence.org/RC/VL/GG/imag
es/genes.gif
Image Accessed 01/04/2011
What is a mutation?
• A mutation is a change in the DNA base sequence.
– What would happen if a mutation occurs in a gene?
– The protein created could be changed!
– Animation
Image Accessed 01/04/2011
http://classes.midlandstech.edu/carterp/Courses/bio225/chap08/08-16_Substitution_1.jpg
Image Accessed 01/04/2011
• Point mutations occur when there is a change in a
single nucleotide of a DNA sequence.
• There are three types:
– Missense
– Nonsense
– Silent
• Animation
http://animalsciences.missouri.edu/biotech/low/basics/prot
ein/10-mutation/point_mutation/point_mutation.gif
Point Mutations
Image Accessed 01/04/2011
Knowledge Check
What amino acid
does the DNA
sequence “CAT”
code for? Turn and
talk to your
neighbor.
http://1.bp.blogspot.com/-cVyodqtS0R8/UIYZ-2JehVI/AAAAAAAAAK0/TpvG7nXYTHo/s640/codon_table.jpg
Image Accessed 01/04/2011
Point Mutations Cont.
• Point silent mutations
occur when there is no
change in the resulting
protein.
– CAT (Original; AA = Val)
– CAC (Mutation; AA =
Val; silent)
http://biology.unm.edu/ccouncil/Biology_124/Images/codon%20chart.gif
Image Accessed 01/04/2011
Point Mutations Cont.
• Point missense mutations
occur when there is a
change in the resulting
protein.
– CAT (Original; AA = Val)
– CCT (Mutation; AA = Gly;
Missense)
http://wiki.ggc.edu/images/b/b8/Missense.jpeg
Image Accessed 01/04/2011
Knowledge Check
What amino acid
does the DNA
sequence “ATG”
code for? What
about “ATT”? Turn
and talk to your
neighbor.
http://1.bp.blogspot.com/-cVyodqtS0R8/UIYZ-2JehVI/AAAAAAAAAK0/TpvG7nXYTHo/s640/codon_table.jpg
Image Accessed 01/04/2011
Point Mutations Cont.
• Point nonsense mutations occur when there is a
change in the resulting protein because of an early
stop codon.
– ATG (Original; AA = Val)
– ATT (Mutation; Stop; nonsense)
Image Accessed 01/04/2011
Frameshift Mutations
• Frameshift mutations completely change how codons
are read in a gene because of an insertion or deletion.
Animation
- insertion occurs when 1+ nucleotides are added to the
gene.
- deletion occurs when 1+ nucleotides are removed from
the gene.
Image Accessed 01/04/2011
http://classes.midlandstech.edu/carterp/Courses/bio225/chap08/10th_ed_figures/figure_08_17_labeled.jpg
Image Accessed 01/04/2011
Fall Semester Break
• The information on the following slides will be
covered in the spring semester. Do not continue.
• Review Animation
http://www.beltina.org/pics/mutation.gif
Image Accessed 01/04/2011
Karyotype
• Remember a karyotype is a picture of the
chromosomes of an organism arranged from largest
to smallest; a tool used to diagnose chromosomal
disorders.
http://www.biotechnologyonline.gov.au/images/contentpages/karyotype.jpg
Image Accessed 01/04/2011
Normal Male (XY)
• Males:
• 46 xsomes (23
pairs)
• Autosomes (22
pairs) – non sex
xsomes
• X and Y
chromosomes
are the sex
xsomes for
males.
Image Accessed 01/04/2011
Normal Female (XX)
• Females:
• 46 xsomes (23
pairs)
• Autosomes (22
pairs) – non sex
xsomes
• Two X
chromosomes are
the sex xsomes for
females.
http://www.daviddarling.info/images/karyotype.jpg
Image Accessed 01/04/2011
The Verbiage: Aneuploid
Aneuploid - having a chromosome number that
is not an exact multiple of the usually haploid
number
Image Accessed 01/04/2011
http://drugline.org/img/ail/2082_2095_3.jpg
Johnson, Paul A. "Trisomy 13." The Gale Encyclopedia of
Genetic Disorders. Ed. Brigham Narins. 2nd ed. Vol. 2. Detroit:
Gale, 2005. 1284-1287. Gale Virtual Reference Library. Web.
13 Jan. 2014.
http://img.wikinut.com/img/1cbm3q6ouuwy8fu1/jpeg/0/Ed
ward-s-Syndrome.jpeg
http://www.lifeinflux.com/wp-content/uploads/2011/09/becky.jpg
Image Accessed 01/04/2011
Common Chromosomal Disorders
• Down Syndrome - Extra chromosome; Trisomy 21
– What It’s Like Article
• Edward Syndrome – Extra chromosome ; Trisomy 18
• Patau Syndrome – Extra chromosome ; Trisomy 13
• Female Disorders:
– Metafemale – XXX
– Turner syndrome – X (missing 2nd x); Monosomy X
• Video
• Male Disorders:
– Klinefelter syndrome – XXY
• More Information & Support
– Jacob syndrome – XYY
Image Accessed 01/04/2011
Get it? Got it? Good!
1. What is the sex of parent (A, left)? Explain. (B,
right)? Explain.
2. Which parent (A) or (B) would pass a mutation to
their child? Explain.
Image Accessed 01/04/2011
Chromosomal Mutations
• Chromosomal mutations result
from a change in the # or
structure of chromosomes.
• They can include “extra”
chromosomes or parts moved or
missing.
http://employees.csbsju.edu/hjakubowski/classes/ch331/dna/mutation2.gif
Image Accessed 01/04/2011
Chromosomal Mutations Cont.
• Original gene sequence on the chromosome =
ABC DEF
•
•
•
•
Deletion – AB DEF (part “C” deleted)
Duplication – ABBC DEF (part “B” doubled)
Inversion – AED CBF (sections switched)
Translocation – ABC JKL (sections added from a different
xsome)
• Animation
Image Accessed 01/04/2011
Knowledge Check
Photomicrograph
of human
chromosomes
showing
male mutation on
chromosome 7,
which determines
cystic fibrosis.
Does that mean
that every cell has
this mutation?
Turn and talk to
your neighbor.
"Human male chromosomes showing mutation on chromosome 7." World
of Genetics. Gale, 2010. Science in Context. Web. 20 Dec. 2013.
Image Accessed 01/04/2011