T4 genetics Flashcards
definition of a gene
base sequence of DNA that codes for the amino acid sequence of a polypeptide or functional RNA mol
definition of a chromosomes
bundles of DNA coiled around histones (proteins) that keep their structure. humans have 23 pairs.
definition of genome
an organisms complete set of genes
definition of proteome
all of the proteins a cell is ABLE to make
definition of allele
a different version of the same gene - eg. blue/brown eye colour gene
definition of homologous chromosome
pair of matching chromosomes
-have same shape, size, genes
-could have different alleles
-alleles coding for the same characteristic will be found on the same locus (location on chromosome).
features of Eukaryotic DNA
-long, linear DNA mols
-found in nucleus
-found as chromosomes
-wound around histones (proteins)
-has introns
features of prokaryotic DNA
-shorter, circular DNA mols
-found in cytoplasm
-found as coiled chromosomes or plasmids
-not associated w proteins
-no introns
3 features of the genetic code + explanations
- non-overlapping - each base triplet is completely separate from the triplet before and after - dont share bases
2.degenerate - more possible combinations of triplets than amino acids that can be produced
3.universal - same base triplets code for the same amino acid in all living things
what is an intron
NON-coding DNA found between genes as non-coding multiple repeats (contain same base sequences repeated multiple times)
what are exons
coding DNA
what is splicing
-introns removed from pre-mRNA and exons joined together to form mRNA which can be translated into protein
what is alternative splicing
selectively including/excluding certain exons, creating different mRNA sequences from a single gene. This means that a different protein isoform is produced.
features of mRNA
-long, single polynucleotide strand in a linear structure
-no h bonds
-no amino acid binding site
-made during transcription
-has codons (base triplets)
features of tRNA
-smaller, single polynucleotide strand folded into a clover leaf shape
-has H bonds (hold cloverleaf structure together)
-has amino acid binding site (at top)
-involved in translation
-has anticodons (base triplets, at bottom)
process of transcription
- DNA helix unwinds as H bonds break to expose the bases to act as a template (only one chain is template)
- free mRNA nucleotides in the nucleus align opposite exposed complementary DNA bases
3.the enzyme RNA polymerase bonds together the RNA nucleotides, forming phosphodiester bonds to create a new pre-mRNA polymer chain. one entire gene is copied - splicing then occurs to the pre-mRNA, where introns are removed and exons are joined together to create mRNA.
why does mRNA need to be made to leave the nucleus
-mRNA is much shorter than DNA, so it is able to fit out of the nuclear pore to carry the genetic code to the ribosome in the cytoplasm
-there are enzymes in cytoplasm that may damage DNA
process of translation
- mRNA attaches to a ribosome in the cytoplasm at the start codon
2.a tRNA mol w the complementary anticodon to the start codon on mRNA aligns opposite, held in place by the ribosome.
3.the ribosome moves along the mRNA mol to enable the rest of the tRNA mol to align w the codons on the mRNA. - the two amino acids that have been aligned by the tRNA are joined by peptide bonds using ATP and an enzyme
- this continues until the stop codon is reached and the ribosome detaches. a polypeptide chain has been produced.
definition of genetic mutation
change in the DNA base sequence which may result in an altered or non-functional polypeptide.
occur spontaneously during DNA rep (S)
what is a mutagenic agent + example
something that increases the mutation rate of cells eg. UV light, ionising radiation
2 types of mutation (yr 12)
- substitution mutation
-deletion mutation
what is a substitution mutation
- a single nucleotide base is replaced by another
-this only affects the amino acid for the triplet in which the mutation occurs and will NOT have a knock-on effect.
-can take 3 forms:
1.silent
2.missense
3.nonsense
what is a nonsense mutation
-type of substitution mutation
-mutation that creates a premature STOP codon, causing the polypeptide chain produced to be incomplete and therefore affecting the final protein structure and function
what is a silent mutation
-type of substitution mutation
-mutation that doesn’t affect the amino acid (due to the degenerative nature of the genetic code)
what is a nonsense mutation
-type of substitution mutation
-mutation that causes a premature stop codon
what is a deletion mutation
- a nucleotide base is deleted from the DNA sequence
-this changes the amino acid that would have been coded for and has a knock-on effect for the rest of the triplets after by causing a frame shift
-this may dramatically change the amin acid sequence produced and therefore the ability of the polypeptide to function
what happens in prophase 1
-chromosomes condense and become visible
-spindle fibres form from centrioles at opposite poles of the cell
-nuclear envelope breaks down
-HOMOLOGOUS chromosomes wrap around each other and exchange alleles and DNA (crossing over)
what happens in metaphase 1
-pairs of HOMOLOGOUS chromosomes line up at the equator of the cell
-spindle fibres attach to centromeres
what happens in anaphase 1
-spindle fibres shorten
-HOMOLOGOUS chromosomes move towards opposite poles of the cell
-independent assortment occurs - homologous chromosomes are randomly organised on either side of the equator