Mutation

Question 1

a permanent change in the DNA
sequence that makes up a gene.
• ____ range in size from one DNA base to a
whole chromosome change.

Answer 1

Mutation

Question 2

Gene mutations occur in two ways:

Answer 2

inherited from a parent
occur in the
DNA of individual cells

Question 3

mutations can be grouped according to

Answer 3

• their sizes,
• phenotypic effects,
•the cause of occurrence
•the type of cell in which they occur

Question 4

Types of chromosomal abnormalities
poliploidy:
triploidy, tetraploidy - aneuploidy: trisomy,
monosomy

Answer 4

Numerical abnormalities

Question 5

Types of chromosomal abnormalities
translocation, deletion, inversion,
duplication, ring, marker

Answer 5

Structural

Question 6

A type of chromosome rearrangement
involving the exchange of chromosome segments between two
chromosomes that do not belong to the same pair of chromosomes.

Answer 6

Reciprocal Translocation

Question 7

if there is no gain or loss of chromosomal material

Answer 7

balance
translocation, inversions

Question 8

if there is gain or loss of chromosomal material

Answer 8

Unbalanced
Duplication
•Deletion
•Insertion
•Ring chromosome

Question 9

BALANCED
occurs
when the segment
between two breakpoints is
inverted before rejoining
the breaks

Answer 9

Inversion

Question 10

UNBALANCED
loss of a segment
of the chromosome

Answer 10

Deletion

Question 11

UNBALANCED
occurs when a
segment of the chromosome is
repeated, once or several
times.

Answer 11

Duplication

Question 12

UNBALANCED
Two ends of the segment
between breakpoints are joined to form a
circular structure.

Answer 12

Ring chromosome

Question 13

mutation occurs when a DNA gene is damaged
or changed in such a way as to alter the genetic
message carried by that gene

Answer 13

the cause of occurence

Question 14

Caused by replication mistakes

Answer 14

spontaneous

Question 15

Induced by exposure to a variety of
mutagenes

Answer 15

induced

Question 16

the mutation is not passed along to
the next generation Cancer tumours are a unique
class of somatic mutations.

Answer 16

somatic cells

Question 17

germ cells give rise to gametes,
some gametes will carry the mutation and it will
be passed on to the next generation.

Answer 17

germinal cells

Question 18

Typically germinal mutations are ___ expressed in
the individual containing the mutation.

Answer 18

Not

Question 19

Mutations by size
• Microscopic (macro mutations, chromosomal abnormalities)

Answer 19

it varies from 2000 kb to larger

Question 20

Mutation by size
• Submicroscopic (micro mutations, gene mutations)

Answer 20

• a single base or
• mutations that are too small not to be evaluated at the
  microscope level

Question 21

Base pair substitution mutations in a nucleotide is

Answer 21

observed as conversion to another nucleotide

Question 22

replace
one amino acid
with another
in gene product. These
are nonsynonymous
substitutions
occur in coding region and changes the triplet codon for
different amino acid

Answer 22

missense mutations

Question 23

replace
an amino
acid
codon
with
a
stop codon. Point mutation,
which
converts
the
normal
codon
to UAA, UGA, UAG, creating a premature STOP codon is
called

Answer 23

nonsense mutations

Question 24

do not change the sequence
of the gene product. Causes a codon change but does not
result in an altered amino acid because of the degenaracy of
the genetic code.

Answer 24

synonymous (silent) mutations

Question 25

Insertion or deletion of a small number
of nucleotides (different than multiplication of three) into a
coding region, which alter the reading frame of translation
from that point.

Answer 25

frameshift mutation

Question 26

caused
by
the
expansion of
trinucleotide
repeats
within
the
genome

Answer 26

dynamic mutation

Question 27

repeat
units
lies within
or adjacent
to
a
diseaseassociated
gene,
there
is a tendency
for
the
tract to
become progressively larger by expansion at meiosis, it
becomes
«unstable» by reaching a certain treshold size

Answer 27

Trinucleoside

Question 28

the tendency for the severity of a condition in
successive
generations

Answer 28

Anticipation

Question 29

example of dynamic mutation

Answer 29

Huntington’s disease

Question 30

an example for repeat
extension

Answer 30

fragile x syndrome

Question 31

Such mutations cause
protein to be partially (hypomorph) or totally
(amorph) loss of function.

Answer 31

Loss function mutations

Question 32

Due to such mutations,
the gene product acquires a new, hypermorphic
function.

Answer 32

gain of function mutations

Question 33

seen in genes with vital
functions.

Answer 33

lethal types of mutations