Genomes, Genetic Variation & Mutations Flashcards
what is significant about eukaryotic genomes?
are large
arranged as linear chromosomes
mitochondrial genome
What are exons?
only a small part of the genome
lots of the sections of the chromosome are non-coding DNA
protein coding regions only 1.5%
What are transposons?
45% transposons of human genome
can replicate and insert into other parts of the genome
discovered in 1940s in maize
some transpose via mRNA
What are the 2 cateogories of transposons?
DNA transposons (Class2)
Retrotransposons (Class1)
What are DNA transposons?
move via a DNA intermediate
via a cut and paste mechanism
can insert into different sections
most mobile elements in bacteria
What are retrotransposons?
move via an RNA intermediate phase
most mobile elements in eukaryotes
most common type in human genome
inserted by an enzyme coded by the RNA
or by different type of reverse transcription
Eukaryotic genomes
highly variable in size
variability attributed to repeated sequences & non-coding DNA
transposons can insert copies elsewhere in the genome
retrotransposons transpose via RNA
How are genomes sequenced?
- sequence many small fragments
- assemble sequence in silico (bioinformatics)
fragments held together by overlapping sections
First generation sequencing
very easy and advantageous
wouldn’t use to sequence a genome now
second generation sequencing
creates short fragments
high throughput
cost effective
often doesn’t get a complete genome
third generation sequencing
single molecule sequencing
produce long sequences
flow cell pores full of DNA molecules
pores detect current as DNA passes through
Genome Sequencing
allows rapid sequencing of non-repetitive parts of genomes
sequence repeated sections also required single molecule sequencing
types of genetic variation (4)
single nucleotide polymorphism (SNPs)
indwells (insertions and deletions)
copy number variations (CNVs)
Structural rearrangements
What is an allele?
term to describe alternative forms of a heritable trait
What is polymorphism?
variation within a population of a given trait