PCOL 838 Final (1)

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