Exam 1 material Flashcards
What is the most common type of polymorphism? What is the frequency?
Single nucleotide polymorphism
Occurs in 1/300-750bp in the genome
How many SNPs are deposited in the SNP database.
55M SNPs deposited
What is the difference between Non-synonymous SNP and Synonymous SNP?
Non synonymous is changing amino acid in the protein
Synonymous SNP does not change amino acids, usually does not change gene function.
What is the difference between Missense and Nonsense SNP?
Missense is amino acid substitution
Nonsense is amino acid changes to a stop codon.
What is a silent SNP?
it is a synonymous SNP that has no amino acid change.
What is a CNV?
Copy number variations. It is a polymorphism. It is a DNA region that has 0-n copies in a population. This makes a chromosome longer or shorter.
EX: CYP2D6, CYP2A6, SULT1A1, UGT2B17, GSTM1, GSTT1
What is Indel?
It is a type of polymorphism that is an insertion/deletion. nucleotides are either present or absent from a locus: 0 or 1 copy. Can be 1 to N nucleotides.
True or False
A gene/allele name can be recognized because it will be italicized.
True
Will a protein name be italicized, bold or regular print?
Regular
What does a * indicate?
Allele or haplotide
what does a “ dot” indicate?
Protein isoform
True or False
A single DNA variant can cause a disease.
True
EGFR
Epidermal Growth Factor Receptor gene
CYP3A4 - What does this mean?
Cytochrome p450 gene family 3 subfamily A gene #4
What does C9ORF106 mean?
Chr 9 opening reading frame #106
What is transcription and where does it occur?
It changes DNA into RNA in the NUCLEUS. There is now a U instead of T in RNA. 5’ cap and 3’ - polyA tail
What is translation and where does it occur?
RNA into a protein. Occurs in the cytoplasm. Has a tart and stop codon. Start: AUG,
STOP: UAA, uAG, UGA
Genetic coding system has how many codons and amino acids?
64 codons (3 stop and 1 initiation) 20 amino acids
In Transcription, what are the CIS regulatory elements?
Promoter (usually about 500bp upstream of a gene, Enhancer (can be multiple sites in the gene or far away), Suppressor (multiple sites), Transcription start site (TSS: TATA box, CAAT box, transcription factor binding sites, Transcription stop signal.
What are the Trans-regulatory elements in transcription?
Protein transcription factors (TFs), Non coding RNA’s (miRs) targeting 3’-UTR
What makes the diversity and adaptability of humans to a changing environment?
Sequence Variation
What is a polymorphism?
a sequence variation at the same position of homologous chromosomes (diploid genome)
Is there a polymorphism in the genome of a single germ cell (haploid genome)?
NO!! Has to be diploid
True or False: Polymorphism can lead to inter patient differences in response to a drug
True
What is the significance of a UGT1A1-53 (TA)n polymorphism
Anticancer drugs can be metabolized by this.
What controls blood levels of warfarin?
Cyp2c9
What enzyme controls drug target for warfarin?
Vkorc1
What polymorphism is single biggest predicted for warfarin dose?
Vkorc1
