Mendelian Inheritance

Question 1

What does a normal chromosome consist of?

Answer 1

Centromere

P arm

Q arm

Question 2

What do mutations in genes do?

Answer 2

Alter the structure of the protein produced so change the function due to incorrect amino acid

Question 3

What is an example of a disease associated mutation?

Answer 3

Sickle cell disorder

Question 4

What kinds of inheritance does sickle cell disorder show?

Answer 4

Recessive

Question 5

What is sickle cell disorder caused by?

Answer 5

Single mutation in one gene

Question 6

What is a pedigree chart?

Answer 6

A family history that can show inheritance of mutations where:

Boys are shown as squares

Girls are shown as circles

Affected are coloured in

Question 7

What are boys shown as in a pedigree chart?

Answer 7

Squares

Question 8

What are girls shown as in a pedigree chart?

Answer 8

Circles

Question 9

What are people who are affected shown as in a pedigree chart?

Answer 9

Coloured in

Question 10

What can children be in a pedigree chart?

Answer 10

Unaffected

Carrier

Affected

Question 11

What is used to determine the risk of a child inheriting a disorder?

Answer 11

Punnet square

Question 12

What is recessive and what is dominant in a punnet square?

Answer 12

Lowercase is recessive

Uppercase is dominant

Question 13

What can some kinds of recessive inheritance give?

Answer 13

A mild version of the disease (carrier shows mild symptoms)

Question 14

What is cystic fibrosis caused by?

Answer 14

A single gene mutation

Question 15

How many kinds of mutations cause cystic fibrosis?

Answer 15

3000

Question 16

How many people are a carrier of cystic fibrosis in the UK?

Answer 16

1/25

Question 17

How many people are affected by cystic fibrosis in the UK?

Answer 17

1/2500

Question 18

What kind of disorder is cystic fibrosis?

Answer 18

Autosomal recessive

Question 19

What kind of disorder is achondroplasia?

Answer 19

Autosomal dominant disorder

Question 20

What is achondroplasia?

Answer 20

Autosomal dominant disorder where long bones are shortened due to a mutation

Question 21

What do you see in a pedigree chart of autosomal dominance?

Answer 21

Each child has a 50/50 change of inheriting the mutation

No skipped generations

Equally transmitted by men and woman

Question 22

What kind of disorder is Huntington’s disease?

Answer 22

Autosomal dominant

Question 23

What is Huntington’s disease?

Answer 23

Autosomal dominant disorder that is neuro-degenerative

Question 24

What are some genetic disorders that are not autosomal?

Answer 24

Sex linked (X linked)

Question 25

What are properties of sex linked disorders?

Answer 25

Only males affected classically

Can skip generations

Unaffected woman and affected men can transmit the condition

No male to male transmission

Question 26

What kind of disorder is Duchenne muscular dystrophy?

Answer 26

Sex linked disorder

Question 27

Multiple genes in the same molecular pathway can cause what?

Answer 27

The same mendelian disease

Question 28

What are examples of disorders caused by many genes?

Answer 28

Long QT

ARVC

Cardiomyopathy