Review for test 2 ( Genetic testing)

Question 1

Best approach for single gene

Answer 1

Sanger

Question 2

Benefits of single gene

Answer 2

Focused

Correlates well with known phenotype

Question 3

Limitations of single gene

Answer 3

Condition may not just involve one gene

May not detect deletions or duplications

Mutations may lie under a primer site

Lots of prep (time consuming)

Question 4

Next generation sequencing is also called

Answer 4

Massively Parallel sequencing

Question 5

Benefits of multi gene testing

Answer 5

1. Can test multiple genes at the same time
2. No ranking
3. Helpful when phenotype is open ended

Question 6

Limitations of multi gene testing

Answer 6

1. More uncertainty
2. May not detect deletions and duplications
3. Mutation may lie under a primer site.
4. Coverage of some genes may be higher/ better than others.
5. We don’t know causation of all genes.

Just because the panel is negative, doesn’t mean that its not genetic.

Question 7

COL2A1 mutations are involved in a spectrum of disorders , prognosis is largely based on

Answer 7

clinical status and not mutation

Question 8

Genotyping

Answer 8

spot checking of commonly known genes

Question 9

Examples of ways to perform genotyping

Answer 9

PCR

Allele specific oligonucleotides

Question 10

May look for what in genotyping

Answer 10

Single nucleotide polymorphisms (SNPs)

Question 11

Benefits of genotyping

Answer 11

Small data , focused, manageable

Question 12

Limitations of genotyping

Answer 12

We detect novel mutations ,limited scope

Question 13

When a panel isn’t enough

Answer 13

Exome and genome sequencing

Question 14

ES will not detect

Answer 14

Entire exome
Mito 
translocations
large dels and dups
Trinucleotide repeats 
UNiparental disomy

epigenetic (methylation)

Question 15

Exome sequencing does not account for

Answer 15

Modifier gene effects

Reduced penetrance

Variable expressivity

Question 16

Some variants in recessive genes cant

Answer 16

explain phenotype