Mendelian Inheritance Flashcards Preview

principles of disease > Mendelian Inheritance > Flashcards

Flashcards in Mendelian Inheritance Deck (29)
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1
Q

What does a normal chromosome consist of?

A

Centromere

P arm

Q arm

2
Q

What do mutations in genes do?

A

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

3
Q

What is an example of a disease associated mutation?

A

Sickle cell disorder

4
Q

What kinds of inheritance does sickle cell disorder show?

A

Recessive

5
Q

What is sickle cell disorder caused by?

A

Single mutation in one gene

6
Q

What is a pedigree chart?

A

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
Q

What are boys shown as in a pedigree chart?

A

Squares

8
Q

What are girls shown as in a pedigree chart?

A

Circles

9
Q

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

A

Coloured in

10
Q

What can children be in a pedigree chart?

A

Unaffected

Carrier

Affected

11
Q

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

A

Punnet square

12
Q

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

A

Lowercase is recessive

Uppercase is dominant

13
Q

What can some kinds of recessive inheritance give?

A

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

14
Q

What is cystic fibrosis caused by?

A

A single gene mutation

15
Q

How many kinds of mutations cause cystic fibrosis?

A

3000

16
Q

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

A

1/25

17
Q

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

A

1/2500

18
Q

What kind of disorder is cystic fibrosis?

A

Autosomal recessive

19
Q

What kind of disorder is achondroplasia?

A

Autosomal dominant disorder

20
Q

What is achondroplasia?

A

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

21
Q

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

A

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

No skipped generations

Equally transmitted by men and woman

22
Q

What kind of disorder is Huntington’s disease?

A

Autosomal dominant

23
Q

What is Huntington’s disease?

A

Autosomal dominant disorder that is neuro-degenerative

24
Q

What are some genetic disorders that are not autosomal?

A

Sex linked (X linked)

25
Q

What are properties of sex linked disorders?

A

Only males affected classically

Can skip generations

Unaffected woman and affected men can transmit the condition

No male to male transmission

26
Q

What kind of disorder is Duchenne muscular dystrophy?

A

Sex linked disorder

27
Q

Multiple genes in the same molecular pathway can cause what?

A

The same mendelian disease

28
Q

What are examples of disorders caused by many genes?

A

Long QT

ARVC

Cardiomyopathy

29
Q
A