Genetics

Question 1

How many base pairs does the human genome have?

Answer 1

3,000,000,000 base pairs

Question 2

How many genes does the human genome have?

Answer 2

30,000 genes

Question 3

How many polymorphisms (genetic variation) does the human genome have?

Answer 3

3,000,000 polymorphisms

Question 4

What is the initial gene test done? What does this show?

Answer 4

Array genomic hybridisation - looks for chromosome inbalance in the whole genome

Question 5

What would you do after array testing? What does this look for?

Answer 5

genomic sequencing - variation at the base level

Question 6

What is next generation sequencing good for?

Answer 6

de novo mutations - can sequence lots then only analyse little bits

Question 7

What happens to a gene if a mutation affects the splice junction?

Answer 7

the gene will stop working

Question 8

How can spinomuscular atrophy be avoided?

Answer 8

can give intrafoetal injections

Question 9

How is tuberous sclerosis treated?

Answer 9

Rapamycin - targets mTor signalling

Question 10

What is Prader Willi syndrome?

Answer 10

very floppy at birth, weak ability to suck so need tube feeding
food seeking and lack of satiety at childhood
learning difficulties, hypogonadism and short stature at adolescence

Question 11

What is bardet biedl syndrome?

Answer 11

visual impairment
renal abnormalities
polydactyly 
learning difficulties
hypogonadism
obesity
hyperphagia