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DNA Polymorphism

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

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