Human Genetics Exam #1

Question 1

a single nucleotide is deleted from the sequence, producing a different or incorrect amino acid sequence, causing a malfunctioning protein

Answer 1

Deletion Mutation

Question 2

a single nucleotide is added to the sequence, producing a different or incorrect amino acid sequence, causing a malfunctioning protein

Answer 2

Insertion Mutation

Question 3

repeated sequencing of amino acids, causing an incorrect sequence

Answer 3

Dynamic Mutations

Question 4

one amino acid is exchanged by another one, might or might not affect the functioning of the protein

Answer 4

Missense Mutation

Question 5

A single nucleotide is changed and codes for a stop codon, ending the sequence before it is finished

Answer 5

Nonsense Mutation

Question 6

sit outside of the coding region of a gene and may not be analyzed (rare compared to the others)

Answer 6

Splicing Mutations

Question 7

Result in decreased activity or complete loss of gene product, mostly recessive

Answer 7

loss of function

Question 8

gene copies are called “alleles”, one can have two identical or two different alleles for a specific gene

Answer 8

chromosomes

Question 9

An affected person usually has one affected parent

Answer 9

autosomal dominant

Question 10

An affected person usually has unaffected parents, Both parents are usually carriers, Can affect either sex

Answer 10

autosomal recessive

Question 11

Mostly affects males, Females are carriers, No transmissions from fathers to sons, Mothers are asymptomatic

Answer 11

X-linked recessive

Question 12

Both sexes are affected, very rare, all sons unaffected, all daughters affected

Answer 12

X-linked dominant

Question 13

Uses one or more specific fluorescence-labelled “probed” which bind to the DNA

Answer 13

FISH analysis

Question 14

growth of cell

Answer 14

G1 phase

Question 15

duplication of genetic material

Answer 15

synthesis (S) phase

Question 16

further growth of the cell in preparation for division

Answer 16

G2 phase

Question 17

the cell has excited the cell cycle and is in a nondividing state

Answer 17

G0 phase

Question 18

Several specific probes all binding to their respective chromosomes

Answer 18

chromosomal painting

Question 19

First step in sanger-sequencing mutation analysis and is essentially required to test for dynamic mutations

Answer 19

PCR

Question 20

Long-term small effective population size will reduce the genetic
diversity of a population

Answer 20

founder effect

Question 21

DNA from fossils merges the scientific fields of palentology with genetics

Answer 21

ancient DNA (aDNA)

Question 22

early extinct humans

Answer 22

hominins