Chapter 12

Individual Genetic Variation

Necessary Vocabulary
• • • • • • • • • Phenotype Genotype Genetic variation Modifications Mutations Chromosome Polyploidy Flexibility (genetic) Reduced genetic • • • • • • • variation Deletions Translocations Sickle cell anemia Base substitutions Homozygous Heterozygous Transposons

Questions
• What do we mean when we talk about variation in an individual? • Why does the sickle cell allele persist in human populations? • What are the similarities between the chromosomes of the Human, Chimpanzee, Orangutan and Gorilla? Where are the variations? • What are structures creating variation in a species? • What are the mechanisms creating variation in a species? • What current research is being performed in order to develop or bring out variation in a species? • How does variation relate to the process of natural selection?

Alternative Splicing of mRNA

Disease

Population

Gene Frequency
.20

Frequency of Frequency of Homozygote Carriers s
1 in 25 1 in 3

Sickle Cell Anemia Sickle Cell Anemia Albinism Albinism Cystic Fibrosis

Africa

African Americans Panama Norway EuropeanAmericans Ashkenazi Jews

.04

1 in 625

1 in 13

.09 .01 .03

1 in 132 1 in 10, 000 1 in 1000

1 in 6 1 in 50 1 in 16

Tay-Sachs Disease

.01

1 in 3000

1 in 28

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