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I. Introduction
A. Mutations
1. A mutation is any change in genetic
material (genes or chromosomes).
2. Fortunately, the cell has a variety of
methods for correcting most simple
mutations.
II. Mutations of Genes [Point Mutations]
A. Silent Mutations
B. Missense Mutations
1. Example: Sickle Cell Anemia
a. Valine is used instead of glutamic acid
in producing hemoglobin.
C. Frameshift Mutations
III. Mutations of Chromosomes
A. Changes in Chromosome Structure
1. Deletion
a. Cri-du-chat Syndrome
i. Deletion of part of chromosome 5
2. Duplication
3. Inversion
4. Translocation
B. Changes in Chromosome Number
1. Polyploidy
(If it helps, think of "ploid" as meaning
one complete set of chromosomes, N.)
a. Haploid Number (N)
("haplo-" = "simple" [think "single"])
b. Diploid Number (2N)
("diplo-" = "double")
c. Polyploidy (3N, 4N, etc.)
("poly-" = "many")
2. Aneuploidy ("without true ploidy")
a. Nondisjunction
b. Trisomy
i. Trisomy 21 [Down Syndrome]
IV. Mutagens and Cancer
A. Mutagens
1. Physical Mutagens
a. Radiation
i. Ultraviolet Light
a) Melanoma
ii. X-rays
iii. Gamma Rays
2. Chemical Mutagens
a. Cytotoxins
B. Cancer
1. Proto-Oncogene
2. Oncogene
3. Carcinogens
4. Viruses
a. Retroviruses
V. Genetic Screening
A. Karyotype
1. Blood
2. Chorionic Villus Biopsy
a. Chorionic Villi
3. Amniocentesis
a. Amniotic Fluid
VI. Summary
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