Genetics in child diseases

Question 1

How many base pairs are there in the human genome ?

Answer 1

3,000,000,000 base pais

Question 2

How many genes make a human ?

Answer 2

30,000

Question 3

How many polymorphisms do you find on average in a person ?

Answer 3

3,000,000

Question 4

What is Chromosome Microarray - Array genomic hybridisation?

Answer 4

Allows you to look for sub-microscopic deletions or duplications of chromosome material across the whole human genome

Question 5

Whta is the use of FISH?

Answer 5

usually to analyse cancer

Question 6

How do babies look like when they are first born?

Answer 6

Squished and like their dads (to prevent them from eating it xD llol)

Question 7

What is the first test to check for genes?

Answer 7

Array - as it is more sensitive

Question 8

Why is karyotype not preferred?

Answer 8

as they look quite similar and is different to pick up details

Question 9

What does Next generation Sequenes do?

Answer 9

sequence a little panel of the genes

Question 10

What is considered normal?

a. The commonest form of gene sequence
b. The form of sequence that doesn’t cause disease
c. The sequence of Frederick Sanger (d.2013)
d. The Sequence of Frances Crick
e. You

Answer 10

the commonest form of gene sequence

Question 11

What is the biggest problem with genomewide analysis ?

Answer 11

Data files big
Identification of many polymorphisms
Data interpretation is complex

Question 12

What percent of the genome acutally codes for anything?

Answer 12

1-3%

Question 13

How do we know if the info from exons are important or not?

Answer 13

if a variation/ polymorphism is present in the data base , higher chance it doesnt cause a disease

Question 14

How do we know a genetic change causes disease

Answer 14

It is in a gene that matches the phenotype
It has an effect on gene function
It is not listed as a polymorphism
It is in an evolutionarily conserved bit of gene
It is de-novo in child – if only child is affected
or
It is present in other affected family members

Question 15

If a mom has it and the children have the same mutation?

Answer 15

polymorpohism

Question 16

A pattern that you can recognise

Answer 16

syndrome

Question 17

Very drooly for 9 year old, round eyes and odd eye brows

Answer 17

Kabuki makeup syndrome

Question 18

What are the features of Kabuki Makeup syndrome?

Answer 18

speech delay
cleft palate
unusual ayeyes and eyebrows 
tendency to drool
Short 2nd phalanges of 5th finger

Question 19

The mutated gene in Kabuki syndrome

Answer 19

Heterozygous for mutation in MLL2

Question 20

What does the mutation in Kabuki do?

Answer 20

the splice site is abolished

Question 21

How likely is it to find a causative mutation in a child with a severe developmental disroder with next generation sequencing?

Answer 21

30%

Question 22

What is the best test for identifying de novo mutations?

Answer 22

Next generation sequencing with clinical assessment

Question 23

What is the best test for identifying developmental disorders/ de novo mutations?

Answer 23

Next generation sequencing with clinical assessment

Question 24

What is spinomuscular atrphy?

Answer 24

recessive genetic condition
type II - less serious
adenurophysis mRNA gene - treatments that involve gene splicing (intrathecal injections)

Question 25

How is PKU identified?

Answer 25

Screened for

Question 26

How do we treat tuberous sclerosis?

Answer 26

Rapamycin targets mTor signalling

Question 27

Which test is used to test for genetic imbalances, and t sequence the entire genome?

Answer 27

Array

Question 28

Why are arrays preferred over NGS?

Answer 28

Cheap!
They can sequence the entire genome/ genome-wide
Can look for imbalances
usually done on everyone

Question 29

When is NGS used?

Answer 29

To check for point mutations in exons only
Usually 2nd line to array if you didn’t find anything specific in an array
**1st line in neonates who are floppy, and they haven’t found a cause
more expensive

Question 30

Which test is the best to look for developmental disorders?

Answer 30

NGS and examination