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Genetix
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:
Heptosplenomegaly
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: pussy).
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. ? See diagram for cardinal symptom of each disease.
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:
Heptosplenomegaly
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: pussy).
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. ? See diagram for cardinal symptom of each disease.
