Molec Exam 2 - Origin Of Mutations

Front 1

Which type of sequence is more conserved? coding or noncoding?

Back 1

coding

Front 2

Natural selection (increases/reduces) the overall frequency of mutations of coding sequences

Back 2

Reduces

Front 3

Frameshift mutations are more common to coding or noncoding sequences?

Back 3

noncoding

Front 4

How many sequence variations exist between 2 people?

Back 4

3 million

Front 5

What is the average heterozygosity of the human genome?

Back 5

1/1250 bases

Front 6

Which chromosome(s) has the lowest substitution rate?

Back 6

X

Front 7

Which chromosome(s) has the highest substitution rate?

Back 7

19,21

Front 8

Which nucleotide (C,T,A,G,U) is the most prone to error?

Back 8

C

Front 9

Are proteins involved in the immune system conserved or highly mutable?

Back 9

highly mutable

Front 10

Are proteins involved in cell function conserved or highly mutable?

Back 10

conserved

Front 11

Give the mechanism and frequency (per cell division) by which a whole chromosome is gained or lost.

Back 11

Malsegregation, 1 in 100

Front 12

Give the mechanism and frequency (per cell division) of a point mutation (list frequency per bp, gene and cell)

Back 12

DNA replication mistakes or DNA damage. 10^-10 per bp, 10^-5 per gene, .5 per cell.

Front 13

Name the six origins of mutations

Back 13

non-disjunction, recombination, dna damage, replication errors, erroneous splicing, insertion of mobile elements

Front 14

Non-disjunction is especially common during which stage of the cell cyle?

Back 14

Meiosis I

Front 15

Non-disjunction is influenced by which three factors:

Back 15

# chiasmata per chromosome, paternal age, # mitotic divisions between conception and production of gametes

Front 16

How many cell division between conception and production of a female gamete?

Back 16

23

Front 17

How many cell divisions between conception adn production of a male gamete (20 yo and 40 yo)?

Back 17

150, 600

Front 18

T/F Recombination and crossing over are the same event.

Back 18

True

Front 19

T/F Recombination is common in both mitosis and meiosis.

Back 19

False, Recombination is common to meiosis but rare in mitosis

Front 20

T/F Recombination is the exchange of genetic material between non-sister chromatids.

Back 20

True

Front 21

What is the average frequency of recombination?

Back 21

1 event per chromosome arm

Front 22

T/F All chromosomes undergo recombination.

Back 22

False

Front 23

Where do males most frequently experience crossing over? Where do females?

Back 23

Telomeric regions, centromeric regions

Front 24

Name the 8 hot spots for recombination

Back 24

rRNA genes, satellite DNA, Alu repeats, LINES, SINES, Duplicated sequences, gene families, pseudogenes

Front 25

Do the X chromosomes of a female undergo normal recombination?

Back 25

Yes

Front 26

Do the X and Y chromosomes of a male undergo normal recombination (just like a pair of autosomes)?

Back 26

No, the undergo obligatory recombination at the tip of the p arms

Front 27

T/F Sister chromatid exchange is a common event in mitosis and meiosis.

Back 27

True

Front 28

Tay Sachs arises from a deletion of which gene?

Back 28

hexosaminidase A

Front 29

Prader-Willi arises from a deletion on which chromsome?

Back 29

15

Front 30

Williamson arises from a deletion on which chromsome?

Back 30

7

Front 31

Langer-Giedon arises from a deletion on which chromsome?

Back 31

8

Front 32

DiGeorge arises from a deletion on which chromsome?

Back 32

22

Front 33

Which dinucleotide has the highest mutation rate?

Back 33

CpG

Front 34

C --> T mutations account for what percentage of all nucleotide substitutions?

Back 34

20%

Front 35

C --> T mutations account for what percentage of all substitutions that lead to human disease?

Back 35

30%

Front 36

What is the most common mobile element to insert itself in the human genome?

Back 36

Alu repeat

Front 37

The Alu insertion may account for up to what percent of all human disease?

Back 37

.3%