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level: Level 1

Questions and Answers List

level questions: Level 1

Question	Answer
Protein or non coding RNA	Functional gene product
Process where gene information is used to produce a functional gene product	Gene expression
Generally regulate gene expression	Non-coding RNA function
tRNA, rRNA	non coding RNA examples
Cystic Fibrosis, Huntingtons, Downsyndrome, Fragile X, Thalassaemia	Common genetic disorders
Region of DNA that specifies production a functional gene product	Gene
Chemical that contains all the genetic information required to specify all aspects of what make a human	DNA
Passed down maternally, 1% of DNA	Mitochondrial DNA
Diploid (2n)	Somatic cells
haploid (n)	Gametes
99% of DNA, 46	Chromosomes
1 to 1.5% of all DNA	Protein coding genes
Regulatory DNA segment recognised by RNA polymerase to initiate transcription	Promoter
Contain regulatory elements that influence on gene expressional at the transcriptional and translational level. Transcribed but not usually translated	5' and 3' UTR
Contain regulatory elements that influence on gene expression at the transcriptional and translational level	Introns
Prevents mRNA degradation, regulated translation and nuclear export, promotes intron excision	5' G cap
Prevents mRNA degradation, regulates translation and nuclear export	Poly A tail
Short stretch to which activators bind. Increase rate of transcription	Enhancers
Bind inhibitors decrease rate of transcription	Silencer
Jumping genes, aka transposable elements, 45% of genome	Transposons
DNA changes that many of us have (natural variation)	Polymorphisms
Rare changes in DNA that deviate away from the norm	Mutation
No effect on functional gene product	Neutral mutation
A new or improved function	Advantageous mutation
Effect on gene product is deleterious and causes genetic disease	Disadvantageous mutation
Type of mutation, Location in gene and Location in protein structure or ncRNA sequence	Mutation effects on product depend on
Number of chromosomes changes	Chromosomal mutation
Trisomy 21	Chromosomal mutation example
Parts of a chromosome change or are rearranged	Subchromosomal 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, translocation	Subchromosomal mutation types
Subchromosomal, creates 2 little genes	Deletion mutation
Subchromosomal, region is flipped only a problem if in coding or regulatory region	Inversion mutation
Small alteration of the DNA sequence	DNA mutation
Single nucleotide mutation, insertion or deletions, frameshift, dynamic	DNA mutation types
single nucleotide mutation, synonymous substitution	Silent mutation
single nucleotide mutation, non-synonymous substitution	Missense mutation
single nucleotide mutation, codes for premature stop codon	Nonsense mutation
Silent, missense, nonsense, frameshift	Single nucleotide mutation types
A small number of bases are inserted or deleted, indels that are not multiples of 3 will cause frameshift mutations	Insertion or deletion mutations
Sequence beyond mutation is changed, can often lead to stop codons	Frameshift mutation
expansion of polymorphic DNA repeat sequence beyond a copy number threshold	Dynamic mutation (?)
Huntingtons, fragile X	dynamic mutation examples
abnormal gene products, abnormal regulation or frameshift	Dynamic mutation consequences
10nm configuration, transcriptionally active	Euchromatin
50nm configuration, transcriptionally inactive	Heterochromatin
Special DNA packaging protein	Histone
DNA wrapped around a histone	Chromatin
Chemical covalent modifications of DNA that result in changes to regulation of a gene but don't affect the DNA sequence	Epigenetics
Change in response to stimuli	Dynamic chemical modifications of DNA
Are passed on to future generations	Stable chemical modification of DNA
genetics deals with a single gene whereas genomics deals with the entire genome	Epigenetics vs Epigenomics