All the difficult terms of Medical Genomics named in the book "Medical Genomics in biomedical sciences by Sander Groffen" are explained in this document by this you can easily study. It will save you a lot of time. I passed this course with an 7,3. Good luck :)
Terms Medical Genomics
Little RNA processing; mRNA is already mature
Heavy RNA processing; mRNA is not mature, splicing needed
Monocistronic mRNA; contains only genetic information to translate only a single
protein chain (polypeptide) --> in Eukaryote
Polycistornic mRNA; mRNA carry several open reading frames each of which is
translated into a polypeptide --> in Prokaryote
Elongation; (E-P-A) amino acid added to growing polypeptide
Enzyme histone acetyltransferase (HATs) and Enzyme histone deacetylase (HDACs)
are for histone modification
Nuclear matrix; network of fibers found throughout the inside of a cell nucleus
(analogous to the cell cytoskeleton)
Insulator is a segment of DNA that function as a boundary between 2 genes. It
protects (insulates=isoleert) a gene from the regulatory effects neighboring genes.
Polonies; combination colonies and polymerase (foundation next generation
sequencing)
Next generation sequencing/parallel sequencing; samples can be analyzed
simultaneously in a single reaction mixture
Blunt ends; equal ends
Ligation adapter; small double-stranded DNA with known sequence
Bridge amplification; principle the same as PCR but it happens on glass (flow cell),
new formed DNA stuck to the glass. Copy bend and interact with other primer.
Clone; collection of many identical items
Library; many different clones (entire information of vectors)
Shearing; breaking DNA into small pieces
Contigs; set of overlapping DNA, uninterrupted
Fingerprinting; bands on gel electrophorese that overlap are maintained rest is
digested.
Probes; stukje DNA dat bijv. met isotopen wordt gemerk en wordt gebruikt om een
bepaald DNA aan te tonen
,Chromosome walking; when probe is combinate with research for overlapping
restriction fragments
Identical; corresponding feature (kenmerk) shared between species
Similar; degree to which species share identicals
Homologous; similar due to common ancestry (voorouder)
• Orthologous; homologous characters with same function in species
• Paralogous; homologous characters with different function in species
Analogous; similar due to common evolution
Stringency; minimum number of matches that must be achieved to achieve a positive
score
Query; user provided sequence
BLASTP; protein query vs protein database
BLASTN; nucleotide query vs nucleotide database
BLASTX; translated DNA (nucleotide) query vs protein database
TBLASTN; protein query vs translated DNA (nucleotide database)
TBLASTX; translated DNA (nucleotide) query vs translated DNA (nucleotide)
database
E-value: probability that sequence with that score is found in database by
coincidence
Comparative genomics; genome sequence of different species are compared
Phylogeny; sequence of events involved in the evolutionary development of species
(phylogeny tree describes this)
Principle of parsimony; order of speciation with lowest number of evolutionary
changes is most likely to have occurred
Synteny; conservation of blocks of order within 2 sets of chromosomes
Phylogenetic foot printing; compare phylogenetic distant (verre) species --> method
for identifying important non-coding DNA sequneces (mutations in this will lead to
disease)
Phylogenetic shadowing; compare phylogenetic close species --> method for food
printing closely related species
C-value paradox; genome size does not correlate with organism’s complexity
,Non-coding DNA;
• Isochores; spots where the base-pair composition may vary from the average
• Pseudogenes; duplication goes wrong
• Tandem (in the same direction) Repeats; copies of the same identical DNA
sequence behind each other
• Mobile elements (transposons and retroviruses); DNA can jump from spot to
spot
, Lecture 1 – Introduction
Wildtype allele; normal
Null allele; knock out
Mutant allele; knock in
Floxed allele; conditional knock out
1’ base 2’H 3’ OH 4’H 5’ phosphate group
RNA; 2’ OH instead of H, mostly single stranded
mRNA; encode proteins
rRNA; component of ribosome that from protein translation machinery
tRNA; couple amino acids to protein. Adapter molecule act between mRNA and
protein
• Has anti-codon that binds to mRNA
• Amino tRNA synthetase attach the correct amino acid to acceptor site
Promotor and transcription termination signal = transcription
Stop and start codon = translation
Prokaryotes; operons, little RNA processing, polycistronic mRNA, DNA in cytoplasm
Eukaryotes; introns and exons, heavy RNA processing, monocistromic mRNA, DNA
in nucleus
Poly-A-tail to 3’ end contributes to;
• Transcription termination
• Release of RNA polymerase from the template
RNA polymerase unwinds double helix:
• Antisense or template; RNA becomes complementary to this
• Sense or coding strand
Elongation; (E-P-A) amino acid added to growing polypeptide
Protease; cutting enzyme
C-terminus 3’
N-terminus 5’
Promotor; decrease gene expression
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