Mutations Flashcards
Mutation
a change in the nucleotides of a DNA molecule, original source of all genetic varation, occur when mistakes are made during DNA replication or when DNA damage does not get repaired properly, occur constantly at low rate, chemicals and radiation are not common causes
Mutations in coding region
affect amino acid sequence
Mutations in noncoding region
affect levels of transcription of nearby genes, where most mutations occur
Germ line mutations
occur in cells giving rise to sperm and egg cells, possibly transmitted from parent to offspring, every cell in the offspring that inherits the mutation carries the mutation
Somatic cell mutations
body cells, occur when new cells are made, more of these, not transmitted from parent to offspring, only some cells in organism carry the mutation
Somatic cells
body cells, same number of genes, alleles, chromosomes, DNA sequence, produced by mitosis
Mitosis
process by which cell after replicating its DNA divides into 2 identical cells, daughter cell identical to each other and parent, diploid to diploid
starts with diploid cell, DNA replication occurs, cell division process, diploid cell divides once to produce two identical diploid cells
Meiosis
process by which humans and most animals make gametes, diploid to haploid, pairing, recombination 2 divisions
starts with diploid cell, DNA replication occurs, cell division process, diploid cell divides twice to produce four nonidentical haploid cells, pairing of chromosomes, recombination, independent assortment
Segregation
alleles will separate in final meiosis stage
Haploid
daughter cells of meiosis, only have one of two alleles not both
Daughter cells
develop into gametes
Genetic recombination
creates new combinations of alleles in the gamete DNA
Independent assortment
creates diverse combinations of chromosome copies among gametes produced by an individual
Conceptual models
important because they integrate data from different sources, can be tested using studies and fine tuned using the results, used to build explanations and guide clinical intervention