Flashcards in Mendelian Inheritance Deck (36)

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1

## What do disease associated mutations do

### Alter protein function as it will have a non functioning or missing protein

2

## What causes sickle cell disease

### Abnormal HB gene

3

## What type of inheritance does sickle cell disease show

### Autosomal recessive

4

## Where is sickle cell disease most prevalent

###
Africa

Mediterranean

Middle-East

India

5

## What does SCD do to RBCs

### Causes them to become sickle shaped which causes pain, tissue damage,infection and even death

6

## What kind of problems can SCD cause

###
Problems with anaesthesia

Also: severe pain, cold, dehydration, infections, jaundice, stroke, leg ulcers, eye problems and kidney problems

7

## In a family pedigree what shape are the boys

### Square

8

## In a family pedigree what shape are the girls

### Circle

9

## What is it called hen there is a risk of 0

### Population risk

10

## What is the chance of having a carrier child when the mother and father are both carriers of an autosomal recessive disorder

### 1/2 (50%)

11

## What is the chance of having an affected child when the mother and father are both carriers of an autosomal recessive disorder

### 1/4 (25%)

12

## What is the chance of being a carrier when your mother and father are both carriers of an autosomal recessive disorder and you know you do not have the disorder (e.g. 23 years old and have no symptoms of the disease)

### 2/3 (66%)

13

## What is the chance of being a carrier when the mother and father are both carriers of an autosomal recessive disorder and you know you do not have the disorder (e.g. 23 years old and have no symptoms of the disease)

### 2/3 (66%)

14

## What is the chance of being unaffected when your mother and father are both carriers of an autosomal recessive disorder and you know you do not have the disorder (e.g. 23 years old and have no symptoms of the disease)

### 1/3 (33%)

15

## What is the chance of having a carrier child when only one parent is a carrier of an autosomal recessive disorder

### 50%

16

## What is the chance of having an unaffected child when only one parent is a carrier of an autosomal recessive disorder

### 50%

17

## What is the chance of having an affected child when only one parent is a carrier of an autosomal recessive disorder

### 0%

18

## What can CF affect

###
Sinuses

Lungs

Skin

Liver

Pancreas

Intestines

Reproductive organs

19

## What happens to the airways in CF

### Airway walls tend to have thick, sticky mucus which blocks the airway and they may have bacterial infections and blood in their mucus

20

## What is the chance of a child being a carrier if the grandparents are both carriers (and mother is definitely unaffected) and the father is from the UK where there is a 1/25 chance of being a carrier

###
The child's mother's chance of being a carrier is 2/3

The child's father's chance of being a carrier is 1/25

So the chance of both of them being a carrier is 2/3 x 1/25 = 2/75

So the child's chance of being a carrier is 2/75 x 1/4 = 1/150

The child's chance of being a carrier is 1/150

21

###
The child's mother's chance of being a carrier is 2/3

The child's father's chance of being a carrier is 1/25

So the chance of both of them being a carrier is 2/3 x 1/25 = 2/75

So the child's chance of being a carrier is 2/75 x 1/4 = 1/150

The child's chance of being a carrier is 1/150.

22

## What is the chance of a child being a carrier when the child's maternal cousin (mother's nephew) has CF

###
The child's mother chance of being a carrier is 1/2 (as she either is a carrier or not and she definitely does not have the disease)

The child's father is ignored in this situation as it is very unlikely he has the disease

So the child's chance of being a carrier is 1/2 x 1/2 = 1/4

23

## What is the chance of having a carrier child when the father is a carrier of an autosomal dominant disorder

### 1/2 (50%)

24

## With autosomal dominant disorders can there be skipped generations

### No

25

## Can there be male to male transmission in autosomal dominant conditions

### Yes

26

## Is a male or female more likely to pass on autosomal dominant conditions

### Equally transmitted by men and women

27

## What type of disease is Huntington's disease

###
Autosomal dominant

Neurodegenerative

28

## What type of inheritance does Duchenne Muscular Dystrophy have

### X-linked

29

## In X-linked inheritance, if the father is affected by a condition and the mother is not, what is the likely outcome for their children

###
The sons will not have the condition

All of the daughters will carry the gene

30