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Genomics in Medicine
Medical School Biochemistry
17
Biochemistry
Graduate
08/27/2011

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Cards

Term
Are Viral Genomes DNA or RNA?
Definition
They can be either
Term
Are viral genomes single stranded or double stranded?
Definition
They can be either
Term
What are plasmids?
Definition
Circular genetic code found in bacterium, often codes for resistance
Term
Is bacterial DNA double stranded or single stranded?
Definition
double-stranded
Term
What is polycistronic mRNA?
Definition
This is an mRNA sequence that codes for more than one protein
Term
What is an operon?
Definition
A DNA coding sequence that codes for several proteins
Term
About how many base pairs does a diploid human cell contain?
Definition
6 billion
Term
Humans code for roughly how many protein genes?
Definition
~27,000
Term
What are the physical characteristics of mitochondrial DNA?
Definition
Circular, double-stranded DNA

shares many characteristics with bacteria

medically this is relevant because some antibiotics can affect mitochondrial DNA
Term
What are microsatellites? What is the clinical significance of microsatellites?
Definition
Microsatellites (Short sequence repeats, SSRs, Short tandem repeats): are short (1-6bp) repeating sequences in genetic code.

Microsatellites are causative agents in a variety of diseases.

Huntingdons disease, for example, comes from a mutation in the huntintin gene (microsatellite is too long, changing the makeup of the protein)
Term
What is the medical relevance of SINE elements?
Definition
SINE elements have been associated with many illnesses including: some colon cancers, some breast cancers, Hemophillia A, and Acute Intermittant Porphyria
Term
What is a pseudogene?
Definition
A pseudogene is a genetic code that has characteristics of a gene (introns etc) but does not code for a protein

Full impact not fully known, but what is know:
they are selected for
modification of pseudogenes can result in disease
some code for RNA (miRNA or long RNA with structural importance. not mRNA)
Term
What is interesting about hemoglobin gene expression?
Definition
Hemoglobin genes are differentially expressed dependent on the age of the subject

remember hemoglobin is a tetramer

In the first trimester the tetramer is composed of Hemoglobin Alpha and Hemoglobin Episilon

In the Second trimester (until around 3 months) the tetramer is Hemoglobin Alpha and Gamma

Finally by 6 months and on the tetramer is Hemoglobin Alpha and Beta
Term
What is a multigene family?
Definition
genes (across and within species) that share such similar characteristics as to assume that they arose from a common ancestor
Term
What mechanism is theorized to have caused multigene families?
Definition
L1 line sequence transpositions. The idea is that unequal transfer occurs and then a chromosome has two copies of the same gene (over time this copy could become modified giving rise to different genes)
Term
What is a gene paralog?
Definition
Two genes within the same species that seem to belong in the same gene family
Term
What is a gene ortholog?
Definition
Two genes across species that seem to belong in the same family
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