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level: Level 1

Questions and Answers List

level questions: Level 1

Protein or non coding RNAFunctional gene product
Process where gene information is used to produce a functional gene productGene expression
Generally regulate gene expressionNon-coding RNA function
tRNA, rRNAnon coding RNA examples
Cystic Fibrosis, Huntingtons, Downsyndrome, Fragile X, ThalassaemiaCommon genetic disorders
Region of DNA that specifies production a functional gene productGene
Chemical that contains all the genetic information required to specify all aspects of what make a humanDNA
Passed down maternally, 1% of DNAMitochondrial DNA
Diploid (2n)Somatic cells
haploid (n)Gametes
99% of DNA, 46Chromosomes
1 to 1.5% of all DNAProtein coding genes
Regulatory DNA segment recognised by RNA polymerase to initiate transcriptionPromoter
Contain regulatory elements that influence on gene expressional at the transcriptional and translational level. Transcribed but not usually translated5' and 3' UTR
Contain regulatory elements that influence on gene expression at the transcriptional and translational levelIntrons
Prevents mRNA degradation, regulated translation and nuclear export, promotes intron excision5' G cap
Prevents mRNA degradation, regulates translation and nuclear exportPoly A tail
Short stretch to which activators bind. Increase rate of transcriptionEnhancers
Bind inhibitors decrease rate of transcriptionSilencer
Jumping genes, aka transposable elements, 45% of genomeTransposons
DNA changes that many of us have (natural variation)Polymorphisms
Rare changes in DNA that deviate away from the normMutation
No effect on functional gene productNeutral mutation
A new or improved functionAdvantageous mutation
Effect on gene product is deleterious and causes genetic diseaseDisadvantageous mutation
Type of mutation, Location in gene and Location in protein structure or ncRNA sequenceMutation effects on product depend on
Number of chromosomes changesChromosomal mutation
Trisomy 21Chromosomal mutation example
Parts of a chromosome change or are rearrangedSubchromosomal mutation
Due to chromosomal mutation. Baby survives as chromosome 21 is the second smallest chromosome so the gene dosage is not big enough to cause death.Trisomy 21
Insertion, deletion, duplication, inversion, translocationSubchromosomal mutation types
Subchromosomal, creates 2 little genesDeletion mutation
Subchromosomal, region is flipped only a problem if in coding or regulatory regionInversion mutation
Small alteration of the DNA sequenceDNA mutation
Single nucleotide mutation, insertion or deletions, frameshift, dynamicDNA mutation types
single nucleotide mutation, synonymous substitutionSilent mutation
single nucleotide mutation, non-synonymous substitutionMissense mutation
single nucleotide mutation, codes for premature stop codonNonsense mutation
Silent, missense, nonsense, frameshiftSingle nucleotide mutation types
A small number of bases are inserted or deleted, indels that are not multiples of 3 will cause frameshift mutationsInsertion or deletion mutations
Sequence beyond mutation is changed, can often lead to stop codonsFrameshift mutation
expansion of polymorphic DNA repeat sequence beyond a copy number thresholdDynamic mutation (?)
Huntingtons, fragile Xdynamic mutation examples
abnormal gene products, abnormal regulation or frameshiftDynamic mutation consequences
10nm configuration, transcriptionally activeEuchromatin
50nm configuration, transcriptionally inactiveHeterochromatin
Special DNA packaging proteinHistone
DNA wrapped around a histoneChromatin
Chemical covalent modifications of DNA that result in changes to regulation of a gene but don't affect the DNA sequenceEpigenetics
Change in response to stimuliDynamic chemical modifications of DNA
Are passed on to future generationsStable chemical modification of DNA
genetics deals with a single gene whereas genomics deals with the entire genomeEpigenetics vs Epigenomics