1. 12.4 MUTATIONS I. Kinds of Mutations
Mutations are changes in the genetic material
A. Gene mutations – changes in a single gene
1. point mutation – changes in one or a few nucleotides

2. 3 TYPES OF MUTATIONS a. substitution – one base is changed to another
* usually affects only one amino acid
b. insertion or deletion – a base is added or removed from DNA sequence

3. FRAMESHIFT MUTATIONS
i. Insertion & Deletion are known as frameshift mutations because the reading frame of the genetic message is shifted when a base is added or removed
ii. may change every amino acid that follows the point of mutation
iii. can alter a protein so much that it can not function

4. Gene Mutations: Substitution, Insertion, and Deletion

5. CHROMOSOMAL MUTATIONS
B. Chromosomal mutation – changes in the number or structure of chromosomes
1. Four types of chromosomal mutations:
a. Deletion – all or part of chromosome is lost

6. CHROMOSOMAL MUTATIONS
b. Duplication – produces extra copies of parts of a chromosome
c. Inversion – reverses the direction of parts of chromosomes
d. Translocation – part of one chromosome breaks off and attaches another chromosome

7. Chromosomal Mutations
Deletion
Duplication
Inversion
Translocation

8. MUTATIONS II. Significance of Mutations
A. many mutations are neutral and have little or no effect on expression of a gene or function of protein
1. mutations allow genetic diversity in a species

9. MUTATIONS
B. harmful mutations are the causes of many genetic disorders or even cancer
beneficial mutations produce proteins that can be helpful in different environments

10. MUTATIONS
Meiosis is a process where gametes (sex Cells) half the number of chromosomes.
a. Nondisjunction occurs when a complete set of chromosomes fails to separate during Meiosis.
gametes (sperm & egg) may produce triploid (3N) or tetraploid (4N) organisms

11. What happens if nondisjunction occurs?
The gamete will die or result in conditions known as trisomy or monosomy.
Trisomy - a person has more than 2 copies of the same chromosome.
Monosomy – a person only has one copy of a chromosome.

12. How can you tell that? Take a picture of the chromosomes
This is known as a karyotype.

13. Normal Female Karyotype

14. Normal Male Karyotype

15. Abnormal Karyotype-Trisomy #21
Down’s Syndrome

16. Abnormal Karyotype – Monosomy of the X chromosome
Turner’s Syndrome