Block 3 Flashcards
what are two traits of polymorphisms?
- may or may not have phenotypic effects
- generally very old and are passed down through numerous generations
what is a general distinction between variants and mutations?
- mutations are usually linked to a disease or phenotype whereas variation may not be.
(- both are present in <_ 1% of the population)
what is an SNP?
Single Nucleotide Polymorphism - DNA sequence variation occurring commonly within a population in which a single nucleotide — A, T, C or G — in the genome differs between members of a biological species or paired chromosomes.
For example, two sequenced DNA fragments from different individuals, AAGCCTA to AAGCTTA, contain a difference in a single nucleotide. In this case we say that there are two alleles.
what are microsatellites?
Short, tandem repeats of 2-7 nucleotides (=STR, SSR)
What are minisatellites?
variable number tandem repeats (=VNTR, 8 to <50 base pairs)
what are copy number variants?
0, 1, 3 or more copies of a large stretch of DNA sequence (1000bp (1kb) > Mb)
where is highly repetitive satellite DNA generally found?
near telomeres and around centromeres
alpha-satellite DNA (alphoid) is mostly present at …… and repeats extend for …… of base pair. Each repeat unit contains …….. between 3 and 32 base pairs
- centromeres
- millions
- smaller repeat units
what are transposons and retrotransposons?
transposons - DNA based
retrotransposons - RNA intermediate
in what way can mobile DNA elements be harmful?
they move and may copy proteins that cut them out and insert them elsewhere in the genome
what are the two types of tandem repeats?
- microsatellites
- minisatellites
what are seven applications of polymorphisms?
- restriction fragment length polymorphisms (RFLP)
- forensic sample identification
- biodiversity
- food quality
- ancestry and archaeology
- preparing to sequence the human genome
- mapping of disease genes
what are restriction enzymes?
enzymes that act as primitive immune system for bacteria
they cut viral DNA sequences and can be used as a research tool
in forensic scenarios, ……. were originally needed to detect ……. from DNA. Now, ……. is used for this
- restriction digests
- microsatellites/VNTRs
- PCR
which alleles can be used as a sex marker and how is this done?
- AMELX and AMELY
- AMELX is 106bp long, AMELY is 112bp long
- by amplifying a segment of DNA and analysing the sizes of the fragments, the sex of the sample donor can be determined
how can polymorphisms be used in ancestry?
the polymorphisms present in DNA give an indication of the donor’s ancestry and origin
how can polymorphisms be used in food quality testing?
PCR can detect polymorphisms in meat for certain animals (eg. cow vs horse)
what is the difference between a physical and a genetic map?
genetic - based on the recombination frequency between molecular markers
physical - alignment of DNA sequences with distances between markers measured in bps
why are genes considered “linked” and how can this be helpful in creating rough genetic maps?
they are positioned close together on the chromosome, not separated by recombination between chromosomes during meiosis therefore rough genetic maps are possible
why was this process not feasible for human genetic mapping and what was the solution?
unethical to breed humans, not enough visible traits to observe eg. no antennae.
polymorphisms without corresponding phenotypes/traits to be used as genetic markers
what were four lab techniques that helped with the above process?
- RFLPs
- DNA sequencing
- gel electrophoresis/Southern Blotting
- PCR
what does it mean if two microsatellite loci are completely, partially or unlinked?
completely - inherited together all of the time
partial - inherited together most of the time
unlinked - inherited 50% of the time
what are linkage maps based on?
determining the relative position of genetic markers by frequency of marker separation during meiosis through the generations
what is a centimorgan (cM)? (include conversion)
human genome linkage measurement
recombination fraction of 1/100 meioses
physically equivalent to between 0.7 and 1 Mb of DNA (depending on recombination frequency)
why are genetic maps not the be all and end all of mapping?
they only provide a rough idea of where markers are and where a disease gene is located
what are the functions of DNA libraries and databases?
libraries - offer infinite clones of any bit of the genome
databases - can map relationships/links (same chromosome, linked? etc)