Flashcards in Genetics Deck (36)
Who is this Archibald Edward Garrod character?
English physician who pioneers the field of inborn errors of metabolism
What is the major Australian genetic disease?
What was the first genetic disease to be routinely tested for at birth?
One protein can only have one mutation?
Nope. many mutations possible
Types of single gene disorders?
What is the PCR technique used for genetic testing?
What's the self mutilation condition called?
What's the collagen defect gene called?
Ehlers Danlos syndrome
What did Archibald Edward Garrod describe in 1902?
Alkaptouria (Dark urine after air exposure)
21 = downs
13 = cyclops
Red green colour blindness is X-linked_____
Blue Yellow colour blindness is autosomal______
What do these all have in common?
Duchenne muscular dystrophy
Lesch Nyhan syndrome
male patter baldness
All X-linked recessive conditions
What's Mendel's first law?
Parents have two copies of the gene for a character
What is Mendel's second law?
Different characters are inherited independently
Do congenital abnormalities have to have a genetic basis?
Nope. could be a teratogen
What is Ehlers Danlos syndrome?
collagen defect gene
self mutilation one
PKU is a lack what?
lack of enzyme that breaks down PKU, builds up and damages brain.
What does a build up of PKU inhibit?
Tyrosinase which makes melanin, so you get blond hair from dark haired parents
What's the prevention of PKU?
Low phenylalanine diet?
What first disease was associated with the Guthrie heel prick test?
1 in 2500
CF affects lungs, what else?
What is the product of the CF gene?
Cystic Fibrosis Transmembrane conductance Regulator
What does Cystic Fibrosis Transmembrane conductance Regulator do?
Chloride channel protein in certain mucous membranes that help to clear mucous in lungs and other areas
What does the Guthrie heel prick test detect in regards to possible CF babies?
IRT (immunoreactive trypsin) via pancreas
The diagnosis of cystic fibrosis confirmed?
Excessive NaCl in sweat
What kind of helix is collagen? Where are the glycines?
triple helix with glycines stacked in the centre
What does kinked collagen in bone present as?
Is Ehler Danlos syndrom Autosomal recessive?
Nope. Autosomal dominant
Why was Niccolo Paganini so special?
Violinist with Marfan's syndrome, long extremities, could span the whole finger board, defect in Fibrillin 1 gene
What's defective in Albinism?
Tyrosinase, which leads to no melanin
Two examples of polygenic inheritance?
What kind of mutation occurs in sickle cell anemia?
point mutation of valine instead of glutamic acid