Genetics

Question 1

name the order of bases in a DNA sequence

Answer 1

ACGT

Question 2

name the order of bases in an RNA sequence

Answer 2

ACGU

Question 3

how many possible places are there for polymorphisms to occur?

Answer 3

10,000,000

Question 4

how many base pairs are there?

Answer 4

3 billion

Question 5

how many genes are there in the genome?

Answer 5

30 000

Question 6

how many polymorphisms are in the average human genome?

Answer 6

3 000 000

Question 7

what is the biggest genetic change that can happen to a chromosome?

Answer 7

entire chromosome deletion

Question 8

what is the smallest genetic mutation that can happen to a chromosome?

Answer 8

a point mutation (1 affected base)

Question 9

how much of a chromosome does a deletion affect?

Answer 9

10 megabases

Question 10

what is the minimum amount of genetic change to a chromosome that a karyotype can detect?

Answer 10

a deletion aka 10 megabases

Question 11

what kind of genetic change can FISH detect?

Answer 11

deletions and microdeletions

Question 12

what should be used for mutations of under 500 bases?

Answer 12

PCR amplification

next gen sequencing

Question 13

mainstay investigation for mutations affecting more than 1 megabase?

Answer 13

array CGH

Question 14

array CGH only detects balanced chromosome rearrangements: T or F

Answer 14

F, only detects unbalanced

Question 15

first test for suspected genetic patients?

Answer 15

array CGH

Question 16

what percentage of the genome actually codes for anything?

Answer 16

1-2%

Question 17

2 types of deletion you can get?

Answer 17

in frame

out of frame

Question 18

best investigation for de novo mutations?

Answer 18

NGS