Mapping Mendelian Disease

Question 1

How can you carry out linkage analysis?

Answer 1

Gene mapping tool
Using observed loci to draw inferences about unobserved loci
A family based design

Question 2

What is the method for linkage analysis?

Answer 2

Get as many DNA samples from a pedigree as possible
Use a tool to observe alleles
Generate a file with your pedigree information and the genotyping data from the microarray
Run the file in a linkage programme

Question 3

What does non-parametric linkage give you?

Answer 3

A plot for each chromosome of how likely linkage is for each part of the chromosome

Question 4

Are inheritance patterns taken into account when using non-parametric linkage?

Answer 4

No

Question 5

What do you have to tell the computer in parametric analysis?

Answer 5

Specifically what they’ve been looking for

Question 6

What does parametric analysis impose rules about?

Answer 6

Inheritance and disease frequency

Question 7

What regions does parametric analysis highlight?

Answer 7

Where:
All affected are equal but different to unaffected
The genotypes follow the imposed inheritance pattern

Question 8

What are the symptoms of Generalised lymphatic dysplasia?

Answer 8

Antenatal hydrops with ascites and pleural effusions
Oedematous at birth
Intestinal lymphangiectasia
Peripheral lymphoedema; arms, legs, face
Mild developmental delay

Question 9

What chromosome is Generalised lymphatic dysplasia linked to?

Answer 9

18

Question 10

What chromosome is 4-limb lymphodema linked to?

Answer 10

1