Midterm Flashcards
(33 cards)
Population genetics 2 goals:
- describe the genetic structure of populations
- hypothesize the evolutionary forces acting on populations
Gene
any defined region of the genome
Allele
Variation of a gene
Genotype
combination of alleles
Haplotype
a combined of linked alleles inherited together
Locus
position on a chromosome (interchangeable with gene)
Genetic variation:
change in allele frequencies overtime
3 sources of genetic variation:
Mutations
Gene recombination
Gene flow
Mutations
Changes in genes (DNA) or chromosomes
Gene recombination
mixing of genes that result from meiosis and sexual reproduction
Gene flow
movement and reproduction of individuals ; produces a novel genetic combination (migration)
Point mutations
- most from paternal line
- 150 mutations for every 3 billion base pairs
- base sub, insertions, deletions
Changes in chromosomes structure
- inversions, translocations
Changes in Chromosome Number
Genome duplications, polyploidy
Subsitution
a different base pair from the original sequence to the mutated one
Insertion
Extra base pairs in a mutated seq.
Deletion
deletion of base pairs
- usually not harmful
Recombination (chromosome crossover)
- involves the exchange of
genetic material either between multiple
chromosomes or between different regions of the
same chromosome - produces genetic variation in organisms that reproduce sexually
- happens as a result of the separation of genes that occurs during gamete formation in meiosis
(must happen)
Gene flow (migration)
- any movement of individuals and/or the genetic
material they carry, from one population to another - if alleles are carried to a population where those gene versions do not exists, gene flow is a very important source of gene variation
Marty Kreitman
- “Nucleotide polymorphism at the
alcohol dehydrogenase locus of Drosophila
melanogaster,” - first to describe sequence variation in a
sample of alleles obtained from nature. - 1983
exons
expressed
introns
gene is removed
silent mutation
any mutation in the 3rd position in a DNA sequence does not change the protien
segregating site (polymorphism)
- A site with different nucleotides in independently
sampled individuals