Genetics Flashcards
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?
cystic fibrosis
What was the first genetic disease to be routinely tested for at birth?
Phenylketonuria (PKU)
One protein can only have one mutation?
Nope. many mutations possible
Types of single gene disorders?
Autosomal dominant autosomal recessive X-linked dominant X-linked recessive Y-linked Mitochondrial
What is the PCR technique used for genetic testing?
Gene amplification
What’s the self mutilation condition called?
Lesch-Nyhan syndrome
What’s the collagen defect gene called?
Ehlers Danlos syndrome
What did Archibald Edward Garrod describe in 1902?
Alkaptouria (Dark urine after air exposure)
Common Trisomies?
21 = downs
18
13 = cyclops
XXY Klinefelter’s
Red green colour blindness is X-linked_____
Recessive
Blue Yellow colour blindness is autosomal______
dominant
What do these all have in common? Hemophilia A 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
Lesch-Nyhan syndrome?
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?
PKU prevention
CF incidence?
1 in 2500
CF affects lungs, what else?
pancreas/liver/reproductive
