1. Changes in DNA that affect genetic information
MUTATIONS
Changes in DNA that affect genetic information

2. What Causes Mutations? Mutations can be inherited.
Parent to child
Mutations can be acquired.
Environmental damage
Mistakes when DNA is copied

3. Significance of Mutations
Some are harmful
Down Syndrome
Some are beneficial
Immunity to HIV
MOST ARE NEUTRAL!
Eye color
Birth marks

5. Gene Mutations changes in one or more nucleotides on one section of DNA Example: Point, and Frameshift
Point Mutations – changes in one or a few nucleotides
THE FAT CAT ATE THE RAT
1 Nucleotide Substitution
THE FAT HAT ATE THE RAT
3 nucleotide Insertion
THE FAT CAT SAT ATE THE RAT
3 nucleotide Deletion
THE FAT ATE THE RAT

6. Gene Mutations
Frameshift Mutations – shifts the reading frame of the genetic message so that the protein may not be able to perform its function.
THE FAT CAT ATE THE RAT
1 nucleotide Insertion
THE FAT HCA TAT ETH ERA T
1 nucleotide Deletion
TEF ATC ATA TET HER AT

7. Chromosome Mutations Changes in number and structure of entire chromosomes
Original Chromosome ABC * DEF
Deletion AC * DEF
Duplication ABBC * DEF
Inversion AED * CBF
Translocation ABC * JKL
GHI * DEF

8. Karyotype Set of chromosome photographs grouped in order and in pairs
Can be used to diagnose chromosomal mutations

11. Chromosome Mutations Down’s Syndrome
Chromosome 21 does not separate correctly.
They have 47 chromosomes in stead of 46.
Children with Down’s Syndrome develop slower, may have heart and stomach illnesses and vary greatly in their degree of inteligence.

12. Chromosome Mutations Cri-du-chat
Deletion of material on 5th chromosome
Characterized by the cat-like cry made by cri-du-chat babies
Varied levels of mental handicaps

13. Pataos Syndrome Trisomy 13
Incomplete brain
Severe mental retardation
Cleft lip and palate
Absence of eyes
Heart valve disorder
Average live expectancy = 130 days

14. Edward’s Syndrome Trisomy 18
Clenched fists
Rocker bottom feet
Malformed heart
3 months – 15 years

15. Sex Chromosome Abnormalities
Klinefelter’s Syndrome (Hermaphrodite)
XXY, XXYY, XXXY
Male
Sterility
Small testicles
Breast enlargement

16. Sex Chromosome Abnormalities
Jacob’s Syndrome
XYY
Normal male traits
Often tall and thin
Associated with antisocial and behavioral problems

17. Sex Chromosome Mutations
Turner’s Syndrome X
Female
sex organs don't mature at adolescence
sterility
short stature

18. Sex Chromosome Mutations
Trisomy X
Female
Little or no visible differences
tall stature
learning disabilities
limited fertility

20. Some mutations even make it on SNL!