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1. DNA: Z vs. B form: which is inactive
ZZZZ is sleeping (inactive). B form is therefore active DNA.
2. Hurler Syndrome features HURLER'S:
- Hepatospenomegaly
- Ugly facies
- Recessive (AR inheritance)
- L-iduronidase deficiency (alpha)
- Eyes clouded
- Retarded Short/
- Stubby fingers
3.
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.
4. Marfan syndrome features MARFAN:
- Mitral valve prolapse
- Aortic Aneurysm
- Retinal detachment
- Fibrillin
- Arachnodactyly
- Negative Nitroprusside test (differentiates from homocystinuria)
5.
Mitochondrial DNA (mt DNA) properties
"mt DNA".
mt stands for:
Maternal Transfer
Mutates Tremendously (high mutation rate)
6. 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.
7. Chromosome 15 diseases
Chromosome 15 has its own MAP:
Marfan syndrome
Angelman syndrome
Prader-Willi syndrome
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