Genetics

Exon vs. intron function

Exons Expressed. InTrons In Trash. Show Details / Rate It ---Anonymous Contributor

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). Show Details / Rate It ---Anonymous Contributor

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]. Show Details / Rate It ---Robert O'Connor University College Dublin

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) Show Details / Rate It ---Anonymous Contributor

Hardy-Weinberg equilibrium: causes for deviations from it

"Maggie May Does Not Smoke": Mutations Migration Drift Non-random mating Selection Show Details / Rate It ---Anonymous Contributor

Tumor suppressor vs. proto-onogene mutations: recessive vs. dominant

"Recess Suppress": Tumor suppressor mutations are recessive. Proto-oncogenes are opposite (dominant). Show Details / Rate It ---Anonymous Contributor

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. Show Details / Rate It ---Anonymous Contributor

Pyrimidines nucleotides

"CUT the PY" (cut the pie): Cytosine Uracil Thiamine are the PYrimidines Show Details / Rate It ---Ken Evans Saskatchewan Health, Acute and Emergency Services

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. Show Details / Rate It ---Anonymous Contributor

Nucleotides: which are purines

"Pure Silver": · Chemical formula of Pure silver is Ag. Therefore, Purines are Adenine and Guanine. Show Details / Rate It ---Jason Mounts Medical College of Georgia

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Achrondroplasia dwarfism: inheritance pattern

Achondroplasia Dwarfism is Autosomal Dominant. Show Details / Rate It ---Robert O'Connor University College Dublin

Marfan syndrome features

MARFAN'S: Mitral valve prolapse Aortic Aneurysm Retinal detachment Fibrillin Arachnodactyly Negative Nitroprusside test (differentiates from homocystinuria) Subluxated lens Show Details / Rate It ---Rinku Uberoi and Wabbas Mahmud UNIBE and Punjab Medical College Faisalabad, Pakistan

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. Show Details / Rate It ---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 Show Details / Rate It ---Rinku S. Uberoi UNIBE

Hurler syndrome features

HURLER'S: Heptosplenomegaly Ugly facies Recessive (AR inheritance) L-iduronidase deficiency (alpha) Eyes clouded Retarded Short/ Stubby fingers Show Details / Rate It ---Robert O'Connor University College Dublin

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) Show Details / Rate It ---Robert O'Connor University College Dublin

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 Show Details / Rate It ---Lau Yue Young Geoffrey Medical Student '03, Hong Kong University

APKD: genetics

ADult Polycystic Kidney Disease is Autosomal Dominant · Also, "Polycystic kidney" has 16 letters and is due to a defect on chromosome 16. Show Details / Rate It ---Anonymous Contributor

DiGeorge/ Velocardiofacial syndrome: features

CATCH 22: Cardiac abnormalities Abnormal facies Thymic aplasia Cleft palate Hypocalcemia 22q11 deletion Show Details / Rate It ---Anonymous Contributor

Nucleotides: purines vs. pyrimidines

"Guardian Angels are Pure, with two Wings": G and A are Purines, with two Rings. · See diagram. Show Details / Rate It ---V. Coleman University of Washington SOM, Seattle

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Chromosome 15 diseases

Chromosome 15 has its own MAP: Marfan syndrome Angelman syndrome Prader-Willi syndrome Show Details / Rate It ---Christopher Jordan UAG

Bartter syndrome: inheritance

BARtter syndrome is autosomal recessive (AR). Show Details / Rate It ---Anonymous Contributor

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. Show Details / Rate It ---Robert O'Connor University College Dublin

Codons: nonsense mutation

"Stop talking nonsense!": Nonsense mutation causes premature stop. Show Details / Rate It ---Robert O'Connor University College Dublin

DNA: Z vs. B form: which is inactive

ZZZZ is sleeping (inactive). B form is therefore active DNA. Show Details / Rate It ---Robert O'Connor University College Dublin

Nucleotides: purines

"AGUA PURa": Adenine and GUAnine are PURines. · "Agua pura" is spanish for "pure water". Show Details / Rate It ---Patricia Sanchez INTEC University, Santo Domingo, Dominican Republic