Mutations

1
Mutations
On the following slides, the orange sections
identify the summary underlined words
vocabulary! Hyperlinks are in turquoise.
2
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.

3
Is this a mutant?
4
These mutants!
Hemophilia
Sickle Cell
http//i.i.com.com/cnwk.1d/i/tim/2012/01/04/AP1111
141114811RyanClark_620x350.jpg
Albinism
http//www.hemophilia-information.com/history-of-h
emophilia.html
Dwarfism
http//upload.wikimedia.org/wikipedia/commons/thum
b/9/9a/Albinisitic_man_portrait.jpg/230px-Albinisi
tic_man_portrait.jpg
http//www.fansofrealitytv.com/forums/imagehosting
/24593efbbf0194.jpg
5
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/images/ge
nes.gif
6
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

7
http//classes.midlandstech.edu/carterp/Courses/bi
o225/chap08/08-16_Substitution_1.jpg
8
Point Mutations

• 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/bas
ics/protein/10-mutation/point_mutation/point_mutat
ion.gif
9
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
10
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
/codon20chart.gif
11
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
12
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
13
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)

http//ghr.nlm.nih.gov/handbook/illustrations/nons
ense.jpg
14
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.

15
http//classes.midlandstech.edu/carterp/Courses/bi
o225/chap08/10th_ed_figures/figure_08_17_labeled.j
pg
16
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
17
Karyotype

• 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/conte
ntpages/karyotype.jpg
18
Normal Male (XY)

• Males
• 46 xsomes (23 pairs)
• X and Y chromosomes are the sex xsomes for males.
  

19
Normal Female (XX)

• Females
• 46 xsomes (23 pairs)
• Two X chromosomes are the sex xsomes for females.
  

http//www.daviddarling.info/images/karyotype.jpg
20
The Verbiage Aneuploid

• Aneuploid - having a chromosome number that is
  not an exact multiple of the usually haploid
  number 

21
Common Chromosomal Disorders

• Down Syndrome - Extra chromosome Trisomy 21
• What Its 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

22
http//img.wikinut.com/img/1cbm3q6ouuwy8fu1/jpeg/0
/Edward-s-Syndrome.jpeg
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//www.lifeinflux.com/wp-content/uploads/2011/
09/becky.jpg
http//drugline.org/img/ail/2082_2095_3.jpg
http//intersexual.files.wordpress.com/2011/03/xyy
1.jpg
http//www.propagator.gr/mysite/index.php?optionc
om_contentviewarticleid220Itemid685
23
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.

24
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/ch
331/dna/mutation2.gif
25
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

26
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.
27
Mutagen

• Mutations can occur naturally, typically enzymes
  within the cell proof read the DNA to correct
  the mistakes.
• Unfortunately, if the mutation occurs in a sperm,
  egg, or early in gestation, then the mutation
  will be part of the offsprings DNA.
• An agent that causes mutations is called a
  mutagen.
• Chemicals
• Radiation
• Poisoned Waters