PCOL 838 Final
DNA damage - ANS-Cellular metabolism, UV light, ionizing radiation, chemical
exposure, replication error
Non-sense mutation - ANS-will often be deleterious by putting a stop codon
silent mutation - ANS-hereditable with an allele in the population, does not change the
amino acid sequence
missense mutation - ANS-hereditable, changes the amino sequence coding for protein
missense conservative mutation - ANS-change in the sequence but still codes for the
same protein
Missense non-conservative mutation - ANS-sequence codes for a different protein
Amorphic - ANS-complete loss of function
neomorphic - ANS-gained a new function
hypermorphic - ANS-function is more active
hypomorphic - ANS-function is less active
antimorphic - ANS-express a negative dominant effect, suppressing the funcition
insertion and deletion (INDELS) - ANS-cause a frameshit in AA sequence altering the
protein function, can be on a single nucleotide
Chromosomal rearrangement - ANS-chromosomes are arranged based on structure
Locus - ANS-where the gene is located on a chromosome
aneuploidy - ANS-one or more extra or missing chromosome leading to an unbalanced
chromosome complement
Klinefelter Syndrome (XXY) - ANS-Males have an extra X chromosome will have breast
enlargement and absence of hair, are infertile
DNA damage - ANS-Cellular metabolism, UV light, ionizing radiation, chemical
exposure, replication error
Non-sense mutation - ANS-will often be deleterious by putting a stop codon
silent mutation - ANS-hereditable with an allele in the population, does not change the
amino acid sequence
missense mutation - ANS-hereditable, changes the amino sequence coding for protein
missense conservative mutation - ANS-change in the sequence but still codes for the
same protein
Missense non-conservative mutation - ANS-sequence codes for a different protein
Amorphic - ANS-complete loss of function
neomorphic - ANS-gained a new function
hypermorphic - ANS-function is more active
hypomorphic - ANS-function is less active
antimorphic - ANS-express a negative dominant effect, suppressing the funcition
insertion and deletion (INDELS) - ANS-cause a frameshit in AA sequence altering the
protein function, can be on a single nucleotide
Chromosomal rearrangement - ANS-chromosomes are arranged based on structure
Locus - ANS-where the gene is located on a chromosome
aneuploidy - ANS-one or more extra or missing chromosome leading to an unbalanced
chromosome complement
Klinefelter Syndrome (XXY) - ANS-Males have an extra X chromosome will have breast
enlargement and absence of hair, are infertile
