Medical Genetics

Question 1

what is a chromosome

Answer 1

long double stranded DNA molecule coated with proteins

Question 2

what are the effects of genetic variants

Answer 2

complete inactivation of function
decreased function
no significant effect
increased or changed function

Question 3

describe what can lead to complete inactivation of function

Answer 3

deletions
premature translation stop

Question 4

describe what can lead to decreased function

Answer 4

amino acid substitutions in key regions, regulatory variants

Question 5

describe what can lead to no significant effect

Answer 5

non coding DNA, no change in amino acid, alters less important region of protein

Question 6

what can lead to an increased or changed function

Answer 6

amino acid substitutions in key regions, regulatory variants or duplications

Question 7

describe the genetics of cystic fibrosis

Answer 7

affects males and females
horizontal pattern
autosomal recessive inheritance
affects children and young adults
can affect digestion and respiration

Question 8

how many pairs of chromosomes normally

Answer 8

23

Question 9

can chromosomes be seen with a normal microscope

Answer 9

yes

Question 10

what is a pedigree

Answer 10

a family tree

Question 11

what is the proband

Answer 11

this is who brings the family to attention, like the person in the clinic

Question 12

what does a double horizontal line mean

Answer 12

the people are dating and related

Question 13

what is indicated if someone develops cancer at a young age

Answer 13

that it is genetic

Question 14

what does horizontal pattern of inheritance mean

Answer 14

this is when people in a single generation are affected. vertical is more than one generation

Question 15

what is a vertical pattern of inheritance

Answer 15

this is when multiple generations are affected