Rote Memorization Factoids Flashcards
What trinucleotide repeat causes Huntington disease and what is the mnemonic?
CAG
Caudate has decreased
ACh
GABA
What trinucleotide repeat causes myotonic dystrophy and what is the mnemonic?
CTG
Cataracts
Toupee
Gonadal atrophy
What trinucleotide repeat causes Fragile X syndrome and what is the mnemonic?
CGG
Chin
Giant
Gonads
What trinucleotide repeat causes Friedreich ataxia and what is the mnemonic?
GAA
Ataxic GAAit
What bone abnormality is common in Down syndrome patients?
Hypoplastic nasal bone
How do you tell Edwards syndrome and Down syndrome apart via Quad screen?
Down syndrome: decreased aFP, INCREASED B-hCG, decreased estriol, INCREASED inhibin A
Edwards syndrome: decreased aFP, DECREASED B-hCG, decreased estriol, DECREASED or NORMAL inhibin A
Down syndrome is only one where Beta-HCG will be increased
What chromosome is associated with Wilson disease?
13 - so unlucky he lost his ball
What chromosome is associated with NF-1?
17 - von Recklinghaus
What chromosome is associated with BRCA1 and Li Fraumeni?
17
Li Fraumeni = p53
Same chromosome as NF-1
What chromosome is associated with ADPKD 1?
16 - same as alpha thalassemia
What chromosome is associated with ADPKD2?
4 - same as Huntington
What chromosome is associated with achondroplasia?
4
FGF3, baby is wee
What chromosome is associated with Friedrich ataxia?
9 - memorize the slide
What chromosome is associated with Wilms tumor?
11
Remember, Beckwith-Wiedmann is 11p15 and is associated
What chromosome is associated with beta-globulin defects?
11
What chromosome is associated with Rb1 and BRCA2?
13 - same as Patau
Remember that BRCA1 and p53 are associated on the same chromosome as NF-1
What chromosome is associated with alpha-globulin defects?
16, 6 looks like a backwards a
Same as ADPKD
What chromosome is associated with hemochromatosis?
6
What chromosome is associated with both Cri-du-chat and familial adenomatous polyposis (FAP)?
5
What chromosome is associated with Huntington disease?
4, same as ADPKD2 and achondroplasia
Hunting 4 Food
What chromosome is associated with cystic fibrosis and Williams syndrome?
7 (10 less than NF-1)
What chromosome is associated with von Hippel-Lindau disease and renal cell carcinoma?
Chromosome 3 (3 letters)
What is the Rheumatoid factor antibody targeted against in Rheumatoid arthritis? What type of Ab is it?
IgM antibody targeted against Fc region on IgG
What two nucleotides are at the 5’ and 3’ ends of a splice site?
5’ end - donor side - GU
3’ end - acceptor side - AG
Donor side will attack middle to form a lariat (looped intermediate), then 3’ hydroxyl of 5’ side of intron will attack the phosphodiester bond between G and the exon to splice out the intron. This whole process is mediated by snRNPs.