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Flashcards in GiM week 2 Deck (43)
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what is epigenetics?

the study of changes in organisms caused by modification of gene expression rather than alteration of the genetic code itself


which end of a DNA strand is the phosphate group found on?



what is another name for the coding strand of DNA (ie the one that mRNA is a copy of)?

sense strand


what are the small sections of DNA that are synthesised on the lagging strand of replicating DNA called?

and why are such sections only found on the lagging strand and not the leading strand?

okazaki fragments

because of the way the original dna is unzipped, the new daughter strand of dna on the leading strand is synthesised from 5'-->3' in one long section but, on the lagging strand the dna on the daughter strand needs to be synthesised from 3'-->5' but, since dna can only be synthesised in 5'-->3' direction, the lagging strand is synthesised in chunks (okazaki fragments)


do all genes code for proteins?

no, some are just transcribed into RNA which is then used for other purposes like signalling and structure


what is a well known example of a promoter sequence before a gene?

TATA box


what happens after splicing at the 5' end and the 3' end of RNA?

5' - guanine cap added
3' - polyadenylation


what is the difference between an exon and an intron?

exons are kept in mature RNA and are translated

introns are removed from RNA by splicing


what is the benefit of alternative splicing?

one gene can code for more that one mRNA sequences (and thus more than one protein)


what are the two types of alternative splicing?

exon skipping

mutually exclusive exon choice


what are pseudogenes?

genes that were once functional, in our evolutionary history, but, due to mutation, are no longer functional


what are processed genes?

intronless copies of other genes

(produced by reverse transcription and reintegration [into the dna], for example by retroviruses)

if the processed gene has then undergone mutation, rendering it non-functional, it's called a pseudo processed gene

occasionally remain functional, most are non-functional


what are the two types of repetitive dna?

satellite DNA - large blocks of repetitive DNA sequence

interspersed repeats - scattered around the genome


what does the word heterochromatic mean?

and what are heterochromatic chromosomal regions?

"differently staining" - ie they stain differently from most DNA

this is because they contain a lot of repeating sequences (satellite dna)


what is alphoid dna? and what is it used for in the study of genetics?

a type of satellite DNA found at centromeres on every chromosome.

but it is slightly different and unique to each chromosome

so if different staining methods are used, you can use the different alphoid DNA to differentiate between chromosomes and identify which is which


what is a SINE?

Short Interspersed Nuclear Element

they make up 5% of the genome

are often dispersed by RETROTRANSPOSITION (reverse transcription followed reintegration into the DNA)

have a role in generation of molecular pathology


what can interspersed repeats cause?

molecular pathology from unequal crossing over

ie during normal recombination between non-sister chromatids at meiosis, if there are interspersed repeats, the section of DNA that is swapped may be reattached at the wrong point (for example leaving chromatid A with two copies of gene 1 while chromatid B has no copies of said gene)

therefore this can lead to a genetic disorder (or there can be no phenotypic change)


Why is the deletion of an exon which has a number of base pairs that is a multiple of 3 less likely to result in a phenotypic change than if the number of base pairs was not a multiple of 3?

if multiple of 3: only causes deletion of whatever amino acids that exon coded for

if not: not only causes deletion of exon but also causes a frame shift for the rest of the gene and possible truncation of the mutated protein (if a premature stop codon is coded for)


what is Charcot-Marie-Tooth disease and what causes it?

CMT is a group of varied inherited disorders of the peripheral nervous system characterised by progressive loss of muscle tissue and touch sensation across various parts of the body. Currently incurable, this disease is the most commonly inherited neurological disorder

The most common cause of CMT (70-80% of the cases) is the duplication of a large region on the short arm of chromosome 17


what is duchenne muscular dystrophy caused by?

deletion of the dystrophin gene on the X chromosome


what is Haemophilia A caused by?

a 'gross rearrangement'

INTRAchromosomal recombination (instead of INTER) occurs causing a segment of the X chromosome to be inverted


why are a lot of point mutations 'silent' in the phenotype?

because there are more codons than there are amino acids so more than one codon codes for each amino acid

so if the point mutation causes GAC to become GAT then both of these code for Asp so there will be no change in the phenotype


why are CG --> TG mutations so common (make up 1/3 of pathogenic mutations)?

because one of the ways that DNA is stabilised is that methylation occurs on C residues that are next to G residues.

However methylCytesine is very similar to tyrosine so during the next replication tyrosine can be incorrectly inserted instead of cytesine, thus causing a CG --> TG mutation


what can a point mutation at a splice junction cause?

mRNA insertion (as splicing occurs at wrong point), deletion and/or frame shift mutation

all --> possible pathology


when naming base pairs in a gene, what is number 1 always?

the A of the ATG (which codes for the start aa of methionine)


what does a * mean when talking about genetic codes?

a stop codon

also written as: ter


what is an example of a genetic bottleneck?



The heterochromatic region on chromosome 1 is an example of this type of DNA...

satellite dna


what types of genes are enriched for CNVs?

olfactory receptor genes

huge variation in what things smell like to different people


what are most genes examples of?

single copy sequences