BMS1031 human genetics

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In which direction does DNA polymerase move?
5' to 3'
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What is the start codon for translation in mRNA?
AUG
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Which AA causes a 'kink' in the polypeptide chain?
Proline
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What structure is found on the 5' end of a mature mRNA?
CAP
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What is the process in eukaryotes whereby ribosomes find the start site of translation?
Scanning
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What is the name of the process by which sugar molecules are added to a polypeptide?
Glycosylation
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All of these can be found in chromatin EXCEPT?
Ribosomes
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Centromeres.....?
A and C
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Heterochromatin....?
B and C
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Nucleosomes...?
Are naked DNA
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All of these are true EXCEPT...?
Nucleosomes are the string in the beads on a string chromatin fibre
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The histone octamer core comprises...?
2xH2A/H2B + 2xH3/H4
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What diameter is the chromatin fibre in a chromatid?
700nm
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What is the size of the human genome?
3x10^9 bp
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How many protein coding genes are there in the human genome?
3x10^4
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What differentiates retrotransposons from any other mobile genetic elements?
RNA intermediate
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A TATA box...?
Positions RNA polymerase
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An enhancer is...?
Position and orientation independent
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Which enzyme transcribes mRNA?
RNA polymerase II
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A reporter gene assay...?
Tests for transcriptional activity
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An electrophoretic mobility shift assay (EMSA)...?
Directly shows binding of nuclear proteins to a specific part of the promoter
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Transcriptional activators always have a...?
C) Transcriptional activation domain
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A homodimeric nuclear receptor...?
Translocates into the nucleus on ligand binding
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A heterodimeric nuclear receptors...?
Is exclusively in the nucleus
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What does heterodimeric nuclear receptors do at/to its target genes in the absence of ligand?
Promotes histone deacetylation
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A homodimeric nuclear receptor binds to...?
Inverted repeats
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How is diversity generates during meiosis?
Synapsis and crossing over
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How many (minimum) mutant (disease) genes does someone affected with an autosomal recessive disease have?
two
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An example of an autosomal recessive disease is?
phenylketonuria
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An example of an X linked recessive disease is...?
duchenne muscular dystrophy
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The phenotype of an individual heterozygous for a codominant mutation is...?
Intermediate between the wildtype and mutant homozygotes
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One X chromosome in females is randomly inactivated by...?
Xist
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Single nucleotide polymorphisms are...?
common
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A base change in the promoter region may prevent...?
Transcription
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A base change in the coding sequence may...?
All the things
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A base change that leads to insertion of a stop codon may cause mRNA to be degraded by...?
Nonsense-mediated decay
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What is the name of the tandem repeat of type CA(n) or CACACACACA?
Microsatellites
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Anticipation in triplet repeat diseases means...?
Phenotype worsens as repeat number increases
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How many genes would you expect to be involved in a complex disease?
Many
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How would you investigate the genetics of a complex disease in an unrelated population?
Association studies
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Card 2

Front

What is the start codon for translation in mRNA?

Back

AUG

Card 3

Front

Which AA causes a 'kink' in the polypeptide chain?

Back

Preview of the front of card 3

Card 4

Front

What structure is found on the 5' end of a mature mRNA?

Back

Preview of the front of card 4

Card 5

Front

What is the process in eukaryotes whereby ribosomes find the start site of translation?

Back

Preview of the front of card 5
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