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Amino Information and Courses from MediaLab, Inc.

These are the MediaLab courses that cover Amino and links to relevant pages within the course.

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Alpha Thalassemia
Thalassemia results fromView Page

Beta Thalassemia
Thalassemia results from which of the following?View Page

Electrophoresis
Amphoteric

An amphoteric molecule has the ability to be negatively or positively charged. Changing the pH using buffers will alter the charge and magnitude of the charge. A molecule with this amphoteric ability is sometimes referred to as an ampholyte or even by the older term, zwitterion.Proteins with their ionizable amino and carboxyl groups are amphoteric. Nucleic acids (deoxyribonucleic acid or DNA and ribonucleic acid or RNA) are charged and thus are amphoteric.

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CE Advantages and Applications

CE is very rapid, efficient, easily automated, computerized, and requires only a microvolume of sample. Again a cooling system is included in instrumentation to prevent problems associated with the heat generated as discussed previously. The resolving power of CE is another important advantage.Proteins can be separated with CE along with inorganic ions, amino acids, drugs, vitamins, carbohydrates, oligonucleotides, and DNA fragments.

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Fundamentals of Molecular Diagnostics
Types of Nucleic Acid Synthesis

A gene is a hereditary unit or sequence of the nucleotide bases ACGT, occupying a fixed location or locus on the chromosome. It is these genes that carry all the information for life processes.DNA is rewritten into 3 types of RNA, each with a specific task: Messenger RNA (mRNA)carries the protein message to the cytoplasm. Ribosomal RNA (rRNA) is the location of protein synthesis. Transfer RNA (tRNA) is responsible for amino acid transport.Each 3-base nucleotide sequence (codon) codes for a specific amino acid. Some amino acids have more than one codon to direct their placement; this is termed degeneracy.

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Writing the Code

Every time a cell divides, the hereditary information must be passed from the parent cell to the daughter cells. This is called replication.Transcription is the copying of the DNA to RNA and translation is the ordering of the amino acid sequences in correct order to make proteins.For these events to occur, the double stranded helix that DNA exists in must be separated.

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Which of the following types of RNA is responsible for amino acid transport?View Page
Terms and Definitions

Term Definition Codon A three nucleotide base sequence that codes for an amino acid Genome The genetic code composed of 64 codons that code for 21 amino acids and 3 stop codons. (amino acids are the building blocks of proteins and stop codons stop the writing process much like a period at the end of a sentence) Nucleic acid Polymer made of monomers; two examples are RNA and DNA Transcription Process of transferring information from DNA into an RNA message Translation The formation of an amino acid from RNA Deoxyribonucleic Acid (DNA) A double-stranded polymer of nucleotides that houses genetic information Ribonucleic acid (RNA) Typically a single-stranded polymer that is much shorter than DNA but chemically similar with a few differences (e.g.- uracil replaces thymine). Replication Reproduction of DNA content from parent to daughter cell during cell division Amplification methods Techniques that increase the amount of the target, the detection signal, or the probe so that sequences are readily detected Fluorescence The emission of light at a longer wavelength when the light is excited at a shorter wavelength Oligonucleotide Short single-stranded nucleic acid Probe A nucleic acid used to identify a hybridization target Polymerase Chain Reaction (PCR) An amplification method performed in vitro

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Match the following terms with the most appropriate response:View Page
The three base nucleotide sequence that provides the information necessary to identify an amino acid is termed a(n):View Page
When Nucleic Acids Get Altered

The reason to chose a particular molecular method can be influenced by disease detection, monitoring or therapy in certain patient populations. Molecular methodologies can be used to identify alterations or variations or changes in DNA sequencing that can cause disease. Sequence alterations that are known to cause disease are termed mutations. These changes or mutations can be applied to areas of the clinical lab such as infectious disease, paternity, genetic testing, and pharmacogenetics. Some of the more common alterations are:Deletion: a missing nucleotide or other portion of DNA sequence Insertion: an extra DNA nucleotide or other portion of DNA sequence Missense: a nucleotide or sequence substitution that codes for a different amino acidNonsense: a nucleotide substitution that ends in early termination of the protein manufacturing process; usually due to a stop codon.The most common alteration is a single base change or single nucleotide polymorphism (SNP)

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What is the name of the substitution nucleic acid alteration that causes a coding for a different amino acid?View Page

Hereditary Hemochromatosis
Specific HFE Mutations

Several mutations of the HFE gene have been described. In the C282Y mutation, a base substitution leads to a change in the amino acid in position 282 from cysteine (C) to tyrosine (Y). The loss of the sulfhydryl-containing amino acid disrupts the tertiary structure of HFE so that it no longer binds to beta-2 microglobulin. Beta-2 microglobulin appears to act along with other proteins to chaperone the newly synthesized HFE out of the Golgi apparatus and to the cell surface where it can then bind to TfR. In the C282Y mutation, HFE remains in the Golgi, never making it to the cell surface. The result is that transferrin binding to TfR is enhanced and excessive amounts of iron enter the cells of the small intestine, liver, and other tissues. A second mutation, H63D, causes a histidine (H) residue in position 63 to be replaced by aspartic acid (D). The mechanism by which this mutation leads to increased iron uptake is less well understood when compared to the C282Y mutation. Unlike the C282Y mutation, the H63D mutation does not seem to affect the binding of beta-2 microglobulin and intracellular movement, since detectable concentrations of the mutated protein are found on cell membranes. Some researchers speculate that the H63D mutation affects the binding of proteins involved in iron regulation and uptake at the cell surface.A third mutation, S65C, leads to a serine-to-cysteine substitution in its associated protein. This mutation has been been found in some compound heterozygotes for C282Y or H63D, but is rarely associated with iron overload in HH.Additional mutations of HFE have been identified, but their clinical significance is unclear. Most laboratories performing molecular assays test for only the C282Y, H63D, and S65C mutations.

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The Urine Microscopic: Microscopic Analysis of Urine Sediment
Leucine Crystals

Leucine crystals indicate a problem with the metabolism of the amino acid leucine. These crystals are round to oval with radiating bands going from a center point out to the periphery, often referred to as a "wagon wheel." These crystals are soluble in hot alcohol and alkali.

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Cystine Crystals

Cystine crystals indicate an abnormality in metabolism of the amino acid cystine. These crystals appear as colorless, refractile, hexagonal plates with even sides. Cystine crystals sometimes occur in pairs. They produce a red color in the nitroprusside reaction. Cystine may be confused with the hexagonal forms of uric acid but does not polarize light. Cystine crystals occur in acid urine.

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