DNA: Z vs. B form: which is inactive
ZZZZ is sleeping (inactive). B form is therefore active DNA.
Nucleotides: purines vs. pyrimidines
Guardian Angels are Pure, with two Wings: G and A are Purines, with two Rings.
AGUA PURa: Adenine and GUAnine are PURines.
· Agua pura is spanish for pure water.
Hurler Syndrome features HURLER'S:
Recessive (AR inheritance)
L-iduronidase deficiency (alpha)
Nucleotides: which are purines
· Chemical formula of Pure silver is Ag. Therefore, Purines are Adenine and Guanine.
Down syndrome features: complete
My CHILD HAS PROBLEM!:
Congenital heart disease/ Cataracts
Hypotonia / Hypothyroidism
Incure 5th finger/ Increased gap between 1st and 2nd toe
Leukemia risk x2/ Lung problem
Duodenal atresia / Delayed development
Hirshsprung's disease / Hearing loss
Alzheimer's disease / Alantoaxial instability
Squint/ Short neck
Protruding tongue/ Palm crease
Round face/ Rolling eye (nystagmus)
Occiput flat/ Oblique eye fissure
Brushfield spot/ Brachycephaly
Low nasal bridge/ Language problem
Epicanthic fold/ Ear folded
Mental retardation/ Myoclonus
Blots: function of Southern vs. Northern vs. Western
· Match up the 1st word letter with 2nd word letter:
· The 0's in snow drop are zeros, since there is no Eastern blot.
Down syndrome pathology DOWN:
Decreased alpha-fetoprotein and unconjugated estriol (maternal)
One extra chromosome twenty-one
Women of advanced age
Nondisjunction during maternal meiosis
CUT the PY (cut the pie):
Cytosine Uracil Thiamine are the PYrimidines
DiGeorge/ Velocardiofacial syndrome: features CATCH 22: Cardiac abnormalities
Marfan syndrome features MARFAN:
Mitral valve prolapse
Negative Nitroprusside test (differentiates from homocystinuria)
Cell cycle stages
Go Sally Go! Make Children!:
G1 phase (Growth phase 1)
S phase (DNA Synthesis)
G2 phase (Growth phase 2)
M phase (Mitosis)
C phase (Cytokinesis)
chromosomal deletion causing it is 5p(-)
What's another name for a cat that's five letters long and starts with a P? (Answer: kitty).
Why is the cat crying? Missing its P.
ADult Polycystic Kidney Disease is Autosomal Dominant
· Also, Polycystic kidney has 16 letters and is due to a defect on chromosome 16.
Hardy-Weinberg equilibrium: causes for deviations from it
Maggie May Does Not Smoke:
Mutations Migration Drift Non-random mating Selection
Achrondroplasia dwarfism: inheritance pattern
Achondroplasia Dwarfism is Autosomal Dominant.
Exon vs. intron function
Exons Expressed. InTrons In Trash.
Nucleotides: class having the single ring·
Pyrimadines are CUT from purines
· Pyrimidines are: Cytosine Uracil Thiamine They are cut from purines so the pyrimadines must be smaller (one ring).
Codons: nonsense mutation
Stop talking nonsense!:
Nonsense mutation causes premature stop.
Tumor suppressor vs. proto-onogene mutations:
recessive vs. dominant
Tumor suppressor mutations are recessive. Proto-oncogenes are opposite (dominant).
Pedigree symbols: gender and affected
Gender: The cIRcle is a gIRl [so boys are squares].
Affected: Black plague was a disease, so black-filled symbol means an affected/diseased person [so non-filled-in is unaffected].
Tay Sach's features SACHS:
Spot in macula
Hex A deficiency
· Extra details with TAY:
Autosomal recessive/ Amaurosis
Young death (<4 yrs)
Chromosome 15 diseases
Chromosome 15 has its own MAP:
Bartter syndrome: inheritance
BARtter syndrome is autosomal recessive (AR).
Nucleotides: double vs. triple bonded basepairs
TU bonds (two bonds):
T-A and U-A have Two bonds. G-C therefore has the three bonds.
Imprinting diseases: Prader-Willi and Angelman
Pray to an Angel:
Prader-Willi and Angelman are the 2 classic imprinting diseases. · Which disease results, depends on whether 15q deletion is maternal or paternal. Keep them straight by: Paternal is Prader-Willi.