Genetics Mnemonics

 

 

Chromosome 15 diseases Chromosome 15 has its own MAP:Marfan syndromeAngelman syndromePrader-Willi syndrome

Bartter syndrome: inheritance BARtter syndrome isautosomal recessive (AR).

DNA probes available for prenatal diagnosis "ABCDEFGHProbes":Alpha globin probe: alpha thalassaemia, polycystic kidneyAlpha 1 AT probe: alpha-1 anti-trypsin deficiencyBeta globin probe: beta thalassaemia, sickle cell anaemiaCFTCR probe: cystic fibrosisDystrophin probe: Duchenne's modystrophyEnormous CAG repeat probe: Huntington's diseaseFactor VIII probe: haemophilia AGH probe: growth hormone deficiencyHemochromatosis probe: hemochromatosisPAH probe: phenylketonuria

Nucleotides: double vs. triple bonded basepairs "TUbonds" (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 retardationFailures (failure to thrive and hear failure secondary to coronary arterydisease)

Achrondroplasia dwarfism: inheritance pattern AchondroplasiaDwarfism is Autosomal Dominant.

Marfan syndrome features MARFAN'S:Mitral valve prolapse

Aortic AneurysmRetinal detachmentFibrillinArachnodactylyNegative Nitroprusside test (differentiates from homocystinuria)Subluxated lens

Imprinting diseases: Prader-Willi and Angelman "Prayto an Angel":Prader-Willi and Angelman are the 2 classic imprinting diseases.· Which disease results, depends on whether 15q deletion is maternal orpaternal. Keep them straight by:Paternal is Prader-Willi.

Down syndrome pathology DOWN:Decreased alpha-fetoprotein and unconjugated estriol (maternal)One extra chromosome twenty-oneWomen of advanced ageNondisjunction during maternal meiosis

Hurler syndrome features HURLER'S:HeptosplenomegalyUgly faciesRecessive (AR inheritance)L-iduronidase deficiency (alpha)Eyes cloudedRetardedShort/ Stubby fingers

Tay Sach's features SACHS:Spot in maculaAshkenazic JewsCNS degenerationHex A deficiencyStorage disease· Extra details with TAY:Testing recommendedAutosomal recessive/ AmaurosisYoung death (<4 yrs)

Down syndrome features: complete "My CHILD HAS PROBLEM!":Congenital heart disease/ CataractsHypotonia/ HypothyroidismIncure 5th finger/ Increased gap between 1st and 2nd toeLeukemia risk x2/ Lung problemDuodenal atresia/ Delayed developmentHirshsprung's disease/ Hearing lossAlzheimer's disease/ Alantoaxial instabilitySquint/ Short neckProtruding tongue/ Palm creaseRound face/ Rolling eye (nystagmus)Occiput flat/ Oblique eye fissureBrushfield spot/ BrachycephalyLow nasal bridge/ Language problemEpicanthic fold/ Ear foldedMental retardation/ Myoclonus

APKD: genetics ADult Polycystic Kidney Disease isAutosomalDominant· Also, "Polycystic kidney" has 16 letters and is due to a defect onchromosome 16.

DiGeorge/ Velocardiofacial syndrome: features CATCH 22:Cardiac abnormalitiesAbnormal faciesThymic aplasiaCleft palateHypocalcemia22q11 deletion

Nucleotides: purines vs. pyrimidines "Guardian Angelsare 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 · "Pyrimadines areCUT from purines"· Pyrimidines are:CytosineUracilThiamineThey are cutfrom purines so the pyrimadines must be smaller (one ring).

Pedigree symbols: gender and affected Gender: The cIRcleis a gIRl [so boys are squares].Affected: Black plague was a disease, so black-filledsymbol means an affected/diseased person [so non-filled-in isunaffected].

Cell cycle stages "Go Sally Go! MakeChildren!":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 "MaggieMay Does Not Smoke":MutationsMigrationDriftNon-random matingSelection

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

Blots: function of Southern vs. Northern vs. Western "SN0WDR0P":· Match up the 1st word letter with 2nd word letter:Southern=DNANorthern=RNAWestern=Protein· The 0's in snow drop are zeros, since there is no Eastern blot.

Pyrimidines nucleotides "CUT the PY" (cut thepie):CytosineUracilThiamineare 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 startswith 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.