Image Accessed 01/04/2011 Mutations On the following slides, the orange sections identify the...

Image Accessed 01/04/2011

MutationsOn the following slides, the orange sections identify the summary; underlined words = vocabulary! Hyperlinks are in turquoise.


Is this a mutant?


These mutants!

Albinism

Sickle

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Hemophilia

Dwarfism

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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


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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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


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


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


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.


http://classes.midlandstech.edu/carterp/Courses/bio225/chap08/10th_ed_figures/figure_08_17_labeled.jpg


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


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/contentpages/karyotype.jpg


Normal Male (XY)• Males: • 46 xsomes (23

pairs)• X and Y

chromosomes are the sex xsomes for males.


Normal Female (XX)

• Females: • 46 xsomes (23

pairs)• Two X

chromosomes are the sex xsomes for females.

http://www.daviddarling.info/images/karyotype.jpg


The Verbiage: Aneuploid

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


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.


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


• 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.


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.


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 offspring’s DNA.

• An agent that causes mutations is called a mutagen. – Chemicals– Radiation

• “Poisoned Waters”

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