Genetic Analysis, Genomics and Modern Tools: every key term you need (+ practice quiz)
25 flashcard terms for Genetics Topic 7, written to match the course framework. Study them here, then drill them as interactive flashcards, or test yourself with the 8-question quiz — free, no account needed.
Cuts at a specific short sequence, often leaving overhanging ends that pair with any fragment cut by the same enzyme.
Gel electrophoresis
Separates fragments by size as they migrate through a matrix toward the positive electrode, since the backbone charge scales with length.
Polymerase chain reaction
Amplifies a defined region exponentially through repeated cycles of separation, primer pairing and extension using a heat-stable enzyme.
Primer design
Primers must flank the target, match closely in melting temperature and avoid pairing with each other, or amplification produces artefacts.
Quantitative amplification
Measures product accumulation during each cycle, so the cycle at which signal crosses a threshold reports the starting amount.
Reverse transcription
Copies an RNA molecule into DNA, which is how transcript populations are converted into a form that can be amplified and sequenced.
Cloning vector
A carrier molecule that replicates in a host and holds an inserted fragment, typically with a selectable marker to identify successful hosts.
Selectable marker
A gene whose product allows only transformed cells to grow, converting a rare event into a population that can be recovered.
Genomic versus complementary library
A genomic library represents all sequence including introns and regulatory regions; a complementary library represents only transcripts from one tissue and state.
Chain termination sequencing
Reads sequence by incorporating labelled terminators that stop extension, so fragment lengths report base positions.
Next-generation sequencing
Reads many short fragments in parallel, trading read length for enormous throughput and making whole-genome studies routine.
Read depth
The average number of times each position is covered. Higher depth is needed to call variants confidently, especially in mixed samples.
Genome assembly
Reconstructs the original sequence by overlapping reads, with repeats being the main obstacle because they can be joined in more than one way.
Annotation
Identifies where genes and regulatory regions lie in an assembled sequence, using both computational prediction and evidence from transcripts.
Single nucleotide polymorphism
A single-base variant common enough in a population to serve as a marker for tracking regions through pedigrees and populations.
Genome-wide association study
Tests millions of markers for statistical association with a trait, identifying regions rather than causal variants and requiring very large samples.
Linkage disequilibrium
Non-random association of alleles at nearby loci, which is what allows a marker to report on an untyped causal variant close to it.
Quantitative trait locus mapping
Locates regions contributing to a continuous trait by testing marker genotypes against measured values across a segregating population.