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carrier
someone who carries the recessive trait, but doesn’t show it due to having a dominant “X” to mask it. Carriers are heterozygous!
mutation
any change in the DNA sequence of a cell
duplication
a mutation where a gene (section of DNA) is duplicated or replicated.
translocation
a mutation where sections of DNA get traded between the wrong chromosomes.
Nondisjunction
When chromosomes DO NOT separate correctly during Meiosis 1 or Meiosis 2. This causes cells to have the wrong number of chromosomes.
Missense mutation
A single base changes, but the amino acid is different. Severity varies for this mutation.
ex (dwarfism)
Nonsense Mutation
A single base change that codes for an early or premature stop codon. There’s a very serious effect!
ex (hurler syndrome)
Insertion Mutation
A mutation where one or more bases are added into the DNA sequence.
ex (crohns disease)
Deletion Mutation
A mutation where one or more bases are removed from the DNA sequence.
ex (albinism)
silent mutation
A mutation that does not alter the amino acid sequence of a protein, often due to redundancy in the genetic code.