Genetics Mnemonics

Genetics Mnemonics

A

Achrondroplasia dwarfism: inheritance pattern

• Achondroplasia Dwarfism is Autosomal D
  • Robert O’Connor University College Dublin

B

Blots: function of Southern vs. Northern vs. Western: “SN0WDR0P“:

­                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.

• • Reference: http://medicalmnemonics.com/

C

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)
  • Reference: http://medicalmnemonics.com/

Chromosome 15 diseases: Chromosome 15 has its own MAP:

• Marfan syndrome
• Angelman syndrome
• Prader-Willi syndrome
  • Christopher Jordan UAG

Codons: nonsense mutation: “Stop talking nonsense!”:

• Nonsense mutation causes premature stop.
  • Robert O’Connor University College Dublin

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.
  • Reference: http://medicalmnemonics.com/

D

1. DiGeorge/ Velocardiofacial syndrome: features: CATCH 22:

• Cardiac abnormalities
• Abnormal facies
• Thymic aplasia
• Cleft palate
• Hypocalcemia
• 22q11 deletion
  • Reference: http://medicalmnemonics.com/

DNA: Z vs. B form: which is inactive

• ZZZZ is sleeping (inactive).
• B form is therefore active DNA.
  • Robert O’Connor University College Dublin

Down syndrome pathology: DOWN:

• Decreased alpha-fetoprotein and unconjugated estriol (maternal)
• One extra chromosome twenty-one
• Women of advanced age
• Nondisjunction during maternal meiosis
  • Rinku S. Uberoi UNIBE

E

1. Exon vs. intron function

• Exons Ex
• InTrons In Tr
  • Reference: http://medicalmnemonics.com/

H

Hurler syndrome features: HURLER’S:

• Heptosplenomegaly
• Ugly facies
• Recessive (AR inheritance)
• L-iduronidase deficiency (alpha)
• Eyes clouded
• Retarded
• Short/ Stubby fingers
  • Robert O’Connor University College Dublin

I

1. 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.
  • Robert O’Connor University College Dublin

M

Marfan syndrome features: MARFAN’S:

• Mitral valve prolapse
• Aortic Aneurysm
• Retinal detachment
• Fibrillin
• Arachnodactyly
• Negative Nitroprusside test (differentiates from homocystinuria)
• Subluxated lens
  • Rinku Uberoi and Wabbas Mahmud UNIBE and Punjab Medical College Faisalabad, Pakistan

N

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).

• • Reference: http://medicalmnemonics.com/

Nucleotides: double vs. triple bonded basepairs: “TU bonds” (two bonds):

• T-A and U-A have Two
• G-C therefore has the three bonds.
  • Robert O’Connor University College Dublin

Nucleotides: which are purines: “Pure Silver“:

• ­Chemical formula of Pure silver is Ag.
• Therefore, Purines are Adenine and G
  • Jason Mounts Medical College of Georgia

P

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].
  • Robert O’Connor University College Dublin

T

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)
  • Robert O’Connor University College Dublin