Genetics Mnemonics

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Genetics Mnemonics



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).


DNA probes available for prenatal diagnosis "ABCDEFGHProbes":
Alpha globin probe: alpha thalassaemia, polycystic kidney
Alpha 1 AT probe: alpha-1 anti-trypsin deficiency 
Beta globin probe: beta thalassaemia, sickle cell anaemia
CFTCR probe: cy stic fibrosis
Dy strophin probe: Duchenne's mody strophy
Enormous CAG repeat probe: Huntington's disease
Factor VIII probe: haemophilia A
GH probe: growth hormone deficiency
Hemochromatosis probe: hemochromatosis
PAH probe: phenylketonuria


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.


Codons: nonsense mutation "Stop talking nonsense!": Nonsense mutation causes premature stop.


DNA: Z vs. B form: which is inactive ZZZZ is sleeping (inactive).
B form is therefore active DNA.


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


Hurler's syndrome: symptoms BLUFF:
Blind (corneal opacity)
Little (dwarfish)
Ugly (coarse facial features)
Fool (mental retardation Failures (failure to thrive and hear failure secondary to coronary artery disease)


Achrondroplasia dwarfism: inheritance pattern Achondroplasia Dwarfism is Autosomal Dominant.


Marfan syndrome features MARFAN'S:
Mitral valve prolapse
Aortic Aneurysm
Retinal detachment
Fibrillin
Arachnodactyly
Negative Nitroprusside test
(differentiates from homocystinuria) Subluxated lens


Imprinting diseases: PraderWilli 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.


Down syndrome pathology DOWN:
Decreased alpha-fetoprotein and unconjugated estriol (maternal) 
One extra chromosome twenty-one
Women of adv anced age
Nondisjunction during maternal meiosis


Hurler syndrome features HURLER'S:
Heptosplenomegaly
Ugly facies
Recessive (AR inheritance)
L-iduronidase deficiency (alpha)
Ey es clouded
Retarded
Short/ Stubby fingers


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)


Down syndrome features: complete "My CHILD HAS PROBLEM!":
Congenital heart disease/ Cataracts
Hy potonia/ Hypothyroidism
Incure 5th finger/ Increased gap between 1st and 2nd toe 
Leukemia risk x2/ Lung problem 
Duodenal atresia/ Delayed dev elopment 
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


APKD: genetics ADult Polycystic
Kidney Disease is
Autosomal
Dominant
· Also, "Poly cystic kidney" has 16 letters and is due to a defect on chromosome 16.


DiGeorge/ Velocardiofacial syndrome: features CATCH 22:
Cardiac abnormalities
Abnormal facies
Thymic aplasia
Cleft palate
Hy pocalcemia 22q11 deletion Nucleotides: purines vs. pyrimidines "Guardian Angels are Pure, with two Wings": G and A are Purines, with two Rings.


Exon vs. intron function Exons Expressed. InTrons In Trash.


Nucleotides: class having the single ring · "Py rimadines are CUT from purines" · Py rimidines are:
Cy tosine
Uracil
Thiamine
They are cutfrom purines so the py rimadines must be smaller (one ring).


Pedigree symbols: gender and affected Gender: The cIRcle is a gIRl [so boy s are squares]. Affected: Black plague was a disease, so black-filled sy mbol means an affected/diseased person [so non-filled-in is unaffected].


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)
Cphase (Cytokinesis)


Hardy-Weinberg equilibrium: causes for deviations from it "Maggie May Does Not Smoke":
Mutations
Migration
Drift
Non-random mating Selection


Tumor suppressor vs. protoonogene mutations: recessive vs.
dominant "Recess Suppress": Tumor suppressor mutations are recessive. Proto-oncogenes are opposite (dominant).


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.


Pyrimidines nucleotides "CUT the PY" (cut the pie): Cy tosine
Uracil Thiamine are the PYrimidines


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: pussy). Why is the cat crying? Missing its P.


Nucleotides: which are purines "Pure Silver": · Chemical formula of Pure silver is Ag. Therefore, Purines are Adenine and Guanine.


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Genetics Mnemonics
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