Pt1420 Final Exam

Powerful Essays
Exam 1:
The complete set of hereditary information carried by an organism is its genome
Human DNA contains 20% C on a molar basis. What are the mole percents of A, G, and T? A- 30% G- 20% T- 30% In a polynucleotide, a phosphate group is linked to the 3’ and 5’ carbons 2 pentoses
Which of the following is a transition mutation? A-T —> G-C - transition= purine —> purine or pyrimidine —> pyrimidine - Purines- GA - Pyrimidines- CT
The basic building block of nucleic acids is the nucleotide. Nucleotides are composed of 3 parts. What are they?
Nitrogenous base
Phosphate
Sugar
DNA replication is semiconservative, meaning that each daughter duplex consists of 1 parental strand and 1 newly synthesized daughter strand
In the
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Why is it so awesome that you can find 2D- PAGE gels for any tissue type on ExPASY? - 2D page contains data on protein identified


Tay-Sachs:
What is Tay-Sachs Disease? - A rare, inherited disorder (autosomal recessive) that progressively destroys nerve cells in the brain and spinal cord. - The most common form becomes apparent in infancy. - Symptoms include loss of muscle and motor skills; can cause mental retardation or paralysis - There is no cure
Is Tay-Sachs Disease common? - It is very rare in the general population. The genetic mutations that cause this disease are more common in people of Ashkenazi Jewish heritage than other people.
What genes are correlated to Tay-Sachs Disease? - Mutations in the HEXA gene cause Tay-Sachs. - Chromosome 15
How do people inherit Tay-Sachs Disease? - It is inherited in an autosomal recessive pattern. Both parents must be carriers, so there is a 25% chance of child developing disease and 50% chance the child will be a carrier. - Adult late onset is very rare

Lesch-Nyhan Disease
At what age are Lesch-Nyhan symptoms first
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- Because girls have 2 X chromosomes, whereas boys only have 1. The extra X chromosome that they lack can protect their bodies form being completely overcome by the disorder.
What role does genetics play in Retts Syndrome? - caused by a MECP2 mutation. This gene is found on a person’s X chromosome

Muscular Dystrophy:
1. What are the most common types of muscular dystrophy? - myotonic- most common form in adults- affects both men and women; prolonged spasm or stiffening muscles; causes muscle weakness - duchenne- most common form in children- affects only males; muscles decrease in size and grow weaker over time; usually need a wheelchair; arms legs and spine become progressively deformed; usually die in late teens - becker- much milder, symptoms appear later and progress more slowly; affects only males and causes heart problems -limbgirdle,- appears in teens to early adulthood- affects males and females; causes progressive weakness that begins in the hips and moves to shoulders, arms, and legs - congenital- present at birth, affect male and females
2. Which gender is more susceptible to muscular

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