Genetics Quiz Genetic Diversity & Disease

Front 1

Person has two identical alleles of a gene

Back 1

Homozygous

Front 2

Person has 2 different alleles of a gene

Back 2

Heterozygous

Front 3

A gene that has many different alleles in a population, which increases diversity

Back 3

Polymorphic locus

Front 4

The most prominent allele in a population

Back 4

Wild-type Allele

Front 5

Any allele other than the wild-type

Back 5

Mutant-type Allele
(mutant does not mean something is wrong with it)

Front 6

1 purine for another purine
1 pyrimidine for another pyrimidine

Back 6

Transitions

Front 7

1 purine substituted for a pyrimidine

Back 7

Transversions

Front 8

Informational change that has no effect

Back 8

Silent mutation

Front 9

Informational change that results in change of an amino acid

Back 9

Missense mutation

Front 10

Informational change from amino acid codon to stop codon

Back 10

Nonsense mutation

Front 11

Duplications or amplifications can result in?

Back 11

Gene dosage effects
evolutionary impact (keep 1 copy intact, improve other)

Front 12

Informational change if add/delete nt NOT in a multiple of 3

Back 12

Frameshift mutations

Front 13

Informational change from a very large insertion or deletion of nucleotides

Back 13

Disruptions

Front 14

Change in Codon #6 in B-globin coding sequence for Hb

Back 14

Sickle-cell B-globin

Change in codon #6-->transversion-->missense-->sticky patches and sickling

Front 15

Mutations in regulatory regions of the B-globin gene may result in transcription regulatory signal changes

Back 15

B-thalassemiase

Front 16

The gene product from the mutant allele is either not expressed at all or the expressed product is defective

Typically recessive

Back 16

Loss of function alleles
LOF

Front 17

LOF-homozygous

Back 17

pathology from lack of product or from accumulation of the intermediates

Front 18

LOF-heterozygous

Back 18

Individual considered a "carrier"

loss of activity from one allele is often compensated by allosteric regulation of enzyme from wild type allele

Front 19

"half is not enough"

Back 19

Haplo-insufficiency

Front 20

Mutant protein interferes with the function of a normal protien

Back 20

Dominant-negative alleles

Front 21

The gene product from the mutant allele either does the wrong job or does the right job at the wrong time or place.

Results from loss of regulation

Typically dominant

Back 21

Gain of functional alleles (GOF)

Front 22

Mutation in the first enzyme in a multi-enzyme pathway

No product made

Back 22

Allelic Heterogeneity

Front 23

Mutation in one enzyme or one subunit of one enzyme in a multi-enzyme pathway

Not enough product is made

Back 23

Locus Heterogeneity

Front 24

Maple Syrup Urine Disease results from

Back 24

a defect in one subunit of one enzyme therefore Locus Heterogeneity

Front 25

Result in "traits" that are not necessarily disease

Back 25

Genetic polymorphism

Front 26

Occurs when an individual is not affected by a genetic condition until placed in a specific situation

Back 26

Situational phenotypes

Front 27

Field that is studying how specific genetic differences increase/decrease the efficacy of prescribed medications

Back 27

Pharmacogenetics

Front 28

Inclusion cell disease

Back 28

absence of mannose-6-P on proteins targeted for lysosomal destruction therefore not targeted by lysosomes & not degraded properly

Mutations that result in processing errors

Front 29

Phenocopies

Back 29

Environmental factors act as phenocopies that mimic some genetic disorders

Thalidomide