GENETICS
MNEMONICS

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.

Nucleotides: purines
AGUA PURa: Adenine and GUAnine are PURines.
· Agua pura is spanish for pure water.

Hurler Syndrome features HURLER'S:
Hepatospenomegaly
Ugly facies
Recessive (AR inheritance)
L-iduronidase deficiency (alpha)
Eyes clouded
Retarded Short/
Stubby fingers

Nucleotides: which are purines
Pure Silver:
· 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
SN0W DR0P:
· Match up the 1st word letter with 2nd word letter:
Southern=DNA
Northern=RNA
Western=Protein
· 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

Pyrimidines nucleotides
CUT the PY (cut the pie):
Cytosine Uracil Thiamine are the PYrimidines

DiGeorge/ Velocardiofacial syndrome: features CATCH 22: Cardiac abnormalities
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia
22q11 deletion

Marfan syndrome features MARFAN:
Mitral valve prolapse
Aortic Aneurysm
Retinal detachment
Fibrillin
Arachnodactyly
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)

Cri-du-chat syndrome:
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.

APKD: genetics
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
Recess Suppress:
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
Ashkenazic Jews
CNS degeneration
Hex A deficiency
Storage disease
· Extra details with TAY:
Testing recommended
Autosomal recessive/ Amaurosis
Young death (<4 yrs)

Chromosome 15 diseases
Chromosome 15 has its own MAP:
Marfan syndrome
Angelman syndrome
Prader-Willi syndrome

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.