Genetics

Question 1

???

Answer 1

!!!

Question 2

for a genetic change to cause a disease it must have what features? (5)

Answer 2

be in a gene that matches the phenotype 
mutation affects gene function
not listed as polymorphism
evolutionary conserved bit of gene 
de-novo in child or present in oner affected family members

Question 3

name the 3 general mental abilities that impact adaptive functioning

Answer 3

conceptual-language/reading/writing/maths
social-empathy/social judgement/communication skills
practical

Question 4

first line investigations when genetic problem suspect? (9)

-second line

Answer 4

-CK, TFT’s, U&Es, bone group, LFT’s, FBC, film
chromosomal micro array for fragile X

-neuro imaging, lead levels, biotinidase, uric acid, ammonia/lactate, organic & amino acids, oligo & mucopolysaccharides
EEG, CSF, skeletal survey