Genetics Mnemonics

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.