MUTATION

Question 1

defined as a heritable alteration or change in the genetic material

Answer 1

MUTATION

Question 2

drive evolution but can also be pathogenic

Answer 2

MUTATION

Question 3

Sequence variants with no obvious effect upon phenotype

Answer 3

POLYMORPHISM

Question 4

may cause adult-onset disease, such as cancer, but cannot be transmitted to offspring.

Answer 4

SOMATIC MUTATION

Question 5

can be transmitted to future generations unless it affects fertility or survival into adulthood

Answer 5

GAMETE

Question 6

It is estimated that each individual carries up to _____________ alleles that in the homozygous state would have very
serious effects.

Answer 6

SIX LETHAL

Question 7

what are the types of mutation

Answer 7

SUBSTITUTION
DELETION
INSERTION

Question 8

replacement of a single nucleotide by another

Answer 8

SUBSTITUTION

Question 9

the most common type of mutation

Answer 9

SUBSTITUTION

Question 10

If the substitution involves replacement by the same type of nucleotide

Answer 10

TRANSITION

Question 11

Substitution of a pyrimidine by a purine or vice versa

Answer 11

TRANSVERSION

Question 12

involves the loss of one or more nucleotides

Answer 12

DELETION

Question 13

the addition of one or more nucleotides into a gene

Answer 13

INSERTION

Question 14

If a mutation does not alter the polypeptide product of the gene

Answer 14

SYNONYMOUS

Question 15

are observed to occur less frequently than synonymous mutations

Answer 15

NON SYNONYMOUS

Question 16

If a mutation leads to an alteration in the encoded polypeptide

Answer 16

NON SYNONYMOUS

Question 17

single base-pair substitution can result in coding for a different amino acid and the
synthesis of an altered protein

Answer 17

MISSENSE

Question 18

If the mutation codes for an amino acid that is
chemically dissimilar, the structure of the protein will be altered and can lead to a gross
reduction, or even a complete loss, of biological activity

Answer 18

NON CONSERVATIVE SUBSTITUTION

Question 19

result in the replacement of a different amino acid that is chemically similar, and may have no functional effect, it retains its normal biological activity

Answer 19

CONSERVATIVE SUBSTITUTION

Question 20

substitution that leads to the generation of one of the stop codons will result in
premature termination of translation of a peptide chain

Answer 20

NONSENSE

Question 21

substitution that leads to the generation of one of the stop codons will result in
premature termination of translation of a peptide chain

Answer 21

NONSENSE MEDIATED DECAY

Question 22

If a mutation involves the insertion or deletion of nucleotides that are not a multiple of three, it will disrupt the reading frame and constitute

Answer 22

FRAMESHIFT

Question 23

DNA are less likely to have a phenotypic effect

Answer 23

MUTATION IN NONCODING DNA

Question 24

Mutations of the highly conserved splice donor (GT) and splice acceptor (AG) sites.

Answer 24

aberrant splicing

Question 25

which resemble the sequence of an authentic splice site, may be activated when the conserved splice sites are mutated.

Answer 25

Cryptic splice sites

Question 26

reduced activity or of decreased stability of the gene product

Answer 26

HYPOMORPH

Question 27

complete loss of the gene product.

Answer 27

AMORPH

Question 28

Loss-of-function mutations in the heterozygous state in which half normal levels of the gene product result in phenotypic effects

Answer 28

HAPLOINSUFFICIENCY

Question 29

esult in either increased levels of gene expression or the development of a new
function(s) of the gene product

Answer 29

Gain-of-Function Mutations

Question 30

Mutations that alter the timing or tissue specificity of the expression of a gene can also be considered

Answer 30

Gain-of-Function Mutations

Question 31

are dominantly inherited and the rare instances of gain-of-function mutations occurring in the homozygous state are often associated with a much more severe phenotype

Answer 31

Gain-of-Function Mutations

Question 32

example of prenatally lethal disorder

Answer 32

HOMOZYGOUS ACHONDROPLASIA OR WAARDENBURG SYNDROME TYPE1

Question 33

is one in which a mutant gene in the heterozygous state results in the loss of protein activity or function

Answer 33

DOMINANT-NEGATIVE MUTATION

Question 34

are particularly common in proteins that are dimers or multimers, for instance structural proteins such as the collagens

Answer 34

DOMINANT-NEGATIVE MUTATION

Question 35

are particularly common in proteins that are dimers or multimers, for instance structural proteins such as the collagens, mutations in which can lead to ______________

Answer 35

OSTEOGENESIS IMPERFACTA

Question 36

Developments in molecular genetics increasingly allow identification of the mutational basis of the specific features that occur in a person with a particular inherited disease

Answer 36

PHENOTYPE

Question 37

This has resulted in attempts to correlate the presence of a particular mutation

Answer 37

GENOTYPE

Question 38

with the specific features
seen in a person with an inherited disorder, this being referred to as

Answer 38

GENOTYPE-PHENOTYPE CORRELAION

Question 39

Naturally occurring mutations are referred to as

Answer 39

SPONTANEOUS MUTATIONS

Question 40

Environmental agents that cause mutations are known as

Answer 40

MUTAGENS

Question 41

Includes electromagnetic waves of very short wavelength (x-rays and γ
rays) and high-energy particles (α particles, β particles, and neutrons).

Answer 41

RADIATION

Question 42

the measurement of radiation.

Answer 42

DOSIMETRY

Question 43

include cosmic rays, external radiation from radioactive materials in certain rocks, and internal radiation from radioactive materials in tissues.

Answer 43

Natural sources of radiation

Question 44

diagnostic and therapeutic radiology, occupational exposure and
fallout from nuclear explosions.

Answer 44

Artificial sources of radiation

Question 45

may be more important than radiation in producing genetic damage.

Answer 45

chemical mutagens

Question 46

Mutations in at least eight of the genes encoding these proteins can cause

Answer 46

xeroderma pigmentosum

Question 47

characterized by extreme sensitivity to ultraviolet light and a high frequency of
skin cancer.

Answer 47

xeroderma pigmentosum