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DNA Polymorphism
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User has deleted their subject information Mind Map on DNA Polymorphism, created by Deleted user on 20/12/2016.
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polymorphism
snps
sslp
cnv
transcription
translation
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Resource summary
DNA Polymorphism
Locus
anonymous locus
DNA locus without any apparent function
make up 98.5% of genome
Most mutations occur here
designated location anywhere on a chromosome, single nucleotide or stretch of many nucleotides
Gene:
coding locus: produce either a protein or functional RNA
change in DNA sequence can occur at any locus
called: DNA Polymorphisms
becomes a mutation when phenotype is affected
3 regions of genome that allow polymorphs to become mutations
Regulatory sequences important for transcription
Northern Blotting
detect changes in RNA
terminator
Destroys termination site - longer product
Promoter
Prevent transcription machinary from binding
Bind more strongly to promoter, enhance transcript rates
PPEs and enhancers in Eukaryotes
RNA Poly Bind more strongly or not at all
Coding regions
codon changes
SNP
silent or Synonymous mutaiton
codon codes for same aa
Missense (conservative)
codon codes for chemically similar amino acid (transition)
Missense (nonconservative)
codon codes for chemically dissimilar aa (transmutation)
Nonsense
Premature stop codon
SSLP
Indel
Framshift mutations
insertion of nucleotide
deletion of nucleotide
Western Blotting
detect changes in protein
Intron Boundaries (eukaryotes only))
All introns must be removed before translation
Western Blotting
protein
Northern Blotting
RNA
GU-AG rule
exon---AG /splice/ GU---intron--AG /splice/ GU---exon
Mutations
New Splice site formed (GC/A/G becomes GT)
Splice site eliminated (GT becomes GC/A/G)
Gene structure
Prokaryotic gene
Promoter
-35: TTGACAT
-10: TATAAT
Attach sigma-70 and RNA polymerase enzyme that begins transctipion
+1
Transcription start site
Shine-Dalgarno Sequence
ribosome ids this site to find start codon for translation
gene
start codon
start translation
stop codon
stop translation
Transcription Terminator
Rho-dependent
intrinsic (hairpin)
Eukaryotic gene
Promoter
-30 TATA box
bound by RNA polymerase and GTFs
PPEs
upstream of promoter
help make enhancesome for transcription
+1
Transcription start site
gene
start codon
start translation
stop codon
stop translation
Transcription Terminator
Polyadenylation signal
Polymorphic
2 or more different DNA sequences at a DNA locus
3 types of DNA polymorphisms
Single Nucleotide Polymorphisms (SNPs)
replacing 1 nucleotide with another
2 types of SNPs
transitions
diameter of double helix not changed
repair mechs less likely triggered
purine to purine: A->G or G->A
pyrimidine to pyrimidine: C->T or T->C
transversions
changes diameter
likely to trigger repair
purine to pyrimidine (vice versa)
3 Causes of SNPs
Replication error
DNA pol adds incorrect base = mismatched base pair
1:10^10
Tautomerization of base
tautomeric forms of purines and pyrimidines allow them to base pair with wrong partner
Cause SNP in one daughter strand after DNA replication
Spontaneous/Induced Lexions
Mutagen
replacing a base in DNA
altering base so it mispairs
damage base so no pairing
Simple Sequence Length Polymorphisms (SSLPs)
repetitive sequence of nucleotides
# of repeats can vary from person to person
which allele at the loci = DNA fingerprint
Each person is unique
Basis of CODIS system
3 types of SSLPs
microsatellites
repeated sequence of 2-3 nts
short tandem repeats (STRs)
repeating sequence of 4-6 nts
variable number tandem repeats (VNTR)
dozens of nts repeated
Cuases of SSLPs
Slippage
Insertion
Daughter strand slips during replication
Delection
Template strand slips during replication
Observed in second round of replication
Large-scale chromosomal changes
Copy Number Variants (CNV)
whole chrom or gene
Relocation of genetic material
Translocation
segment from another chromosome
Inversion
Gain of Genetic material
extra chromosomes
Duplication
Increase copy number
Loss of genetic material
Deletion
Missing Chromosome
decrease copy number
Media attachments
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