Genetics

Question 1

How is array genomic hybridisation used

Answer 1

Allows you to look for unbalanced mutations in chromosomes

Sub-microscopic deletions or duplications across whole genome

Question 2

What is considered the ‘normal’ genotype

Answer 2

The commonest form of the gene sequence

in Caucasian Americans

Question 3

What are the major issues with genome-wide analysis

Answer 3

Big data files and complex interpretation

Major one is the identification of many polymorphisms when only 1 is the disease causing mutation

Question 4

What is the NOMAD system

Answer 4

A database that holds thousands of previously seen genetic variants in ‘normal’ population
If the mutation is in the database it is less likely to cause the disease

Question 5

What is a de-novo mutation

Answer 5

One that occurs spontaneously in the child - not inherited

More likely to be disease causing

Question 6

What is kabuki makeup syndrome

Answer 6

Genetic condition caused by a mutation in MLL2

Gives cleft palate, classical facial features and odd fingers