DNA Flashcards
what are the molecules that have CBP with 2 H bonds
ATU
what are the molecules that have CBP with 3 H bonds
GC
what are purines and pyrimidines
AG and CTU
Define a gene mutation
`An alteration in the sequence of nucleotides which may change the sequence of Aas in a ppt chain. this may change the 3D shape and hence the function of the protein and thus the phenotype of the organism; thus mutations can result in new alleles
whats the structure of a nucleotide
a nitrogenous base attached to C1
a phosphate group attached to C5
and a pentose sugar
structure of RNA and DNA
DNA: constant width between sugar phosphate backbone = 2nm
strands run antiparallel; one complete turn of the double helix has 10BP and a distance of 3.4nm
RNA–> no fixed AUCG ratio; ss
what is semi-conservative DNA replication
Both strands of DNA separate by the breaking of hydrogen bonds and each strand acts as a template for the synthesis of a new strand through CBP
types of mutation
substitution inversion insertion deletion
what is an inversion mutation
segment inverts
what is a substitution mutation
replacement of a nucleotide by another
what is a deletion mutation
nucleotides are removed from a sequence
what is a insertion mutation
nucleotides are inserted into the sequence
whats a frame-shift mutation
it is due to an insertion or deletion of a number of nucleotides that is indivisible by3, disrupting the reading frame and resulting in a completely different and non-functional ppt chain formed.
what is a miss-sense mutation
point mutation that results in a codon that codes for a diff aa; if similar then no change and vv.
what is a silent mutation
a point mutation that does no change the aa sequence in a ppt as the genetic code is degenerate
what is a nonsense mutation
a point mutation that results in a premature stop codon UAG UAA UGA causing the ppt to be truncated and non-functional
outline how sickle cell anemia arises due to a mutation
affects beta globin chain of haemoglobin
due to a substitution mutation CTC to CAC; the change in mRNA GAG to GUG; there is a change in amino acid from glutamate to valine;
the charged and hydrophilic glutamate is replaced by non-polar hydrophobic valine in HBS; at low oxygen concentrations, HbS will lose the oxygen and undergo a conformation change which will cause the hydrophobic patches on HbS to stick out.
the hydrophobic areas of the different HbS will stick tgt and the polymerisation of HbS results in the formation of abnormal, rigid, rod-like fibres which will distort the shape of the biconcave RBC and make it sickle shaped. when oxygen binds to HbS it is reversed.