BSCI 1511 Study Guide - Midterm Guide: Tandem Repeat, Wild Type, Copy-Number Variation

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Exam 3 Review Session
It takes one generation of random mating to randomize alleles
Can have phenotypic diversity without any genetic diversity
oEnvironment can cause differences
Can have genetic diversity without phenotypic diversity
oDifferent genes producing same phenotype
oE.g. Mendelian locus: 3 genotypes (AA, Aa, aa) and only 2 phenotypes
Why genetic diversity does NOT equal phenotypic variation
If genes are more than 50 map units apart, their recombination frequency is 50%
oEssentially on different chromosomes
Sickle cell, Tay-Sachs, achondroplasia, color-blindness, Drosophilia
oKnow what is dominant, what is recessive
oRed eyes dominant in fruit fly, white eyes recessive
Tay-Sachs disease
oWild type breaks down lipids
oMutant does NOT breakdown lipids  accumulation of lipids
What is the frequency of a sex-linked phenotype?
oFor females, allele frequency = q, genotype = q2
oFor males = genotype frequency = allele frequency (b/c only 1 allele)
Population genetics #6
oQ = 0.08
oP = 0.92
o2pq = 2(0.08)(0.92)
Copy number variation versus tandem repeats
oCNV = duplications of entire genes
Genes that are often next to each other
We often have more than one copy of a gene, but when the number of
copies varies between people, called copy # variants
oTandem repeats = repeats of short sections of DNA
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Document Summary

It takes one generation of random mating to randomize alleles. Can have phenotypic diversity without any genetic diversity: environment can cause differences. Can have genetic diversity without phenotypic diversity: different genes producing same phenotype, e. g. Mendelian locus: 3 genotypes (aa, aa, aa) and only 2 phenotypes. Why genetic diversity does not equal phenotypic variation. If genes are more than 50 map units apart, their recombination frequency is 50: essentially on different chromosomes. Sickle cell, tay-sachs, achondroplasia, color-blindness, drosophilia: know what is dominant, what is recessive, red eyes dominant in fruit fly, white eyes recessive. Tay-sachs disease: wild type breaks down lipids, mutant does not breakdown lipids accumulation of lipids. What is the frequency of a sex-linked phenotype: for females, allele frequency = q, genotype = q2, for males = genotype frequency = allele frequency (b/c only 1 allele) Population genetics #6: q = 0. 08, p = 0. 92, 2pq = 2(0. 08)(0. 92)

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