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Flashcards in Mendelian Inheritance Deck (29)
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1

What does a normal chromosome consist of?

Centromere

P arm

Q arm

2

What do mutations in genes do?

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

3

What is an example of a disease associated mutation?

Sickle cell disorder

4

What kinds of inheritance does sickle cell disorder show?

Recessive

5

What is sickle cell disorder caused by?

Single mutation in one gene

6

What is a pedigree chart?

A family history that can show inheritance of mutations where:

 

Boys are shown as squares

Girls are shown as circles

Affected are coloured in

7

What are boys shown as in a pedigree chart?

Squares

8

What are girls shown as in a pedigree chart?

Circles

9

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

Coloured in

10

What can children be in a pedigree chart?

Unaffected

Carrier

Affected

11

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

Punnet square

12

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

Lowercase is recessive

Uppercase is dominant

13

What can some kinds of recessive inheritance give?

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

14

What is cystic fibrosis caused by?

A single gene mutation

15

How many kinds of mutations cause cystic fibrosis?

3000

16

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

1/25

17

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

1/2500

18

What kind of disorder is cystic fibrosis?

Autosomal recessive

19

What kind of disorder is achondroplasia?

Autosomal dominant disorder

20

What is achondroplasia?

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

21

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

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

No skipped generations

Equally transmitted by men and woman

22

What kind of disorder is Huntington's disease?

Autosomal dominant

23

What is Huntington's disease?

Autosomal dominant disorder that is neuro-degenerative

24

What are some genetic disorders that are not autosomal?

Sex linked (X linked)

25

What are properties of sex linked disorders?

Only males affected classically

Can skip generations

Unaffected woman and affected men can transmit the condition

No male to male transmission

26

What kind of disorder is Duchenne muscular dystrophy?

Sex linked disorder

27

Multiple genes in the same molecular pathway can cause what?

The same mendelian disease

28

What are examples of disorders caused by many genes?

Long QT

ARVC

Cardiomyopathy

29