Image Accessed 01/04/2011 Unit 9 - Mutations On the following slides, the orange sections identify...
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Image Accessed 01/04/2011 Unit 9 - Mutations On the following slides, the orange sections identify the summary; underlined words = vocabulary ! Hyperlinks are in turquoise.
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Transcript of Image Accessed 01/04/2011 Unit 9 - Mutations On the following slides, the orange sections identify...
Image Accessed 01/04/2011
Unit 9 - MutationsOn 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
These mutants!
Albinism
Sickle
Cell
Hemophilia
Dwarfism
http://upload.wikimedia.org/wikipedia/commons/thumb/9/9a/Albinisitic_man_portrait.jpg/230px-Albinisitic_man_portrait.jpg
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http://www.fansofrealitytv.com/forums/imagehosting/24593efbbf0194.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/images/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• Point mutations occur when there is a change in a
single nucleotide of a DNA sequence.• There are three types:
– Missense– Nonsense– Silent
• Animation
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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)
http://ghr.nlm.nih.gov/handbook/illustrations/nonsense.jpg
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://img.w
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yndrome.jpeg
http://www.lifeinflux.com/wp-content/uploads/2011/09/becky.jpg
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http://intersexual.files.wordpress.com/2011/03/xyy1.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
• 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
Chromosomal Mutations Cont.
Image Accessed 01/04/2011
Knowledge Check
"Human male chromosomes showing mutation on chromosome 7." World of Genetics. Gale, 2010. Science in Context. Web. 20 Dec. 2013.
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.
