Post on 28-Dec-2015
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Unit 9 - MutationsOn the following slides, the
orange sections identify the summary; underlined words = vocabulary! Hyperlinks are in turquoise.
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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.
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These mutants!
Albinism
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http://www.fansofrealitytv.com/forums/imagehosting/24593efbbf0194.jpg
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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
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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
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http://classes.midlandstech.edu/carterp/Courses/bio225/chap08/08-16_Substitution_1.jpg
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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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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
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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
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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
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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
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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
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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.
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http://classes.midlandstech.edu/carterp/Courses/bio225/chap08/10th_ed_figures/figure_08_17_labeled.jpg
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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
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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
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Normal Male (XY)• Males: • 46 xsomes (23
pairs)• Autosomes (22
pairs) – non sex xsomes
• X and Y chromosomes are the sex xsomes for males.
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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
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The Verbiage: Aneuploid
Aneuploid - having a chromosome number that is not an exact multiple of the usually haploid number
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http://www.lifeinflux.com/wp-content/uploads/2011/09/becky.jpg
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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
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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.
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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
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• 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.
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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.