Mutations Flashcards
point mutation
Occur when a single nucleotide base is changed, inserted or deleted from a DNA or RNA sequence of an organism’s genome
frameshift mutation
Caused by indels of a number of nucleotides in a DNA sequence that is not divisible by three. Due to the triplet nature of gene expression by codons, the insertion or deletion can change the reading frame, resulting in a completely different translation from the original
indels
insertions or deletions
reading frame
the grouping on the codons
failure of homologous chromosomes or sister chromatids to separate properly during cell division includes:
failure of a pair of homologous chromosomes to separate in meiosis I
the failure of sister chromatids to separate during meiosis II, or mitosis
mutagen
a physical or chemical agent that can change genetic material
nondisjunction
a pair of homologous chromosomes has failed to separate or segregate at anaphase so that both chromosomes of the pair pass to the same daughter cell resulting in daughter cells with abnormal chromosome numbers (aneuploidy)
Trisomy 21
Down syndrome; extra chromosome
Trisomy 13
Patau Syndrome; extra chromosome
Trisomy 18
Edward’s syndrome; extra chromosome
XXY male
Klinefelter’s Syndrome; two x chromosomes and one y chromosome
XYY male
XYY Syndrome; one x chromosome and two y chromosome
Trisomy X
XXX female; extra chromosome
Monosomy X
Turner’s syndrome; one x chromosome no y chromosomes